ZMP
PXN (3 of 3)
Ensembl ID:
Description:
paxillin [Source:HGNC Symbol;Acc:9718]
Human Orthologue:
PXN
Human Description:
paxillin [Source:HGNC Symbol;Acc:9718]
Mouse Orthologue:
Pxn
Mouse Description:
paxillin Gene [Source:MGI Symbol;Acc:MGI:108295]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa11930 | Essential Splice Site | Available for shipment | Available now |
sa34282 | Splice Site, Nonsense | Mutation detected in F1 DNA | Not yet available |
sa328 | Nonsense | Confirmed mutation in F2 line | Not yet available |
sa17685 | Nonsense | Available for shipment | Available now |
sa17848 | Nonsense | Available for shipment | Available now |
sa11924 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa11930
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085993 | Essential Splice Site | 47 | 1197 | 1 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 3681498)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 3430027 |
GRCz11 | 8 | 3488776 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CRGGTGGGACTGAAWACTGGGASRCATTCTGGAATACTCTCTAAACTCTG[T/G]GAGTACTTGTTTTCTGGAAACATTACTGCATTGCGTGTTTGTGGTKAGTT
Long Flanking Sequence:
TTCCTCGAATCAAATATCTTGTTTGTCGCGAGGGGCATGAATGAATTCCCTGAATGAAAGAGCCAAACTGCAGTTAAAGTCCACCATTTAATAATTTGGCAAATAATTCGACTACAGATGTCCATGTAGGTTAAACACCATCACTTTCTCCTGTGTGTGTATTTTGACTGAAACTCGCGCGTGCCCAAATAGACACTCCCACACCCTCCCACTTTAGTTCCTCCGACACTCCCCCCTAAACAGAGCTGGACACGCCCACTTTATTTTGACTTTTTCCAAAGTAGAGGTGTGAAAACACCCTGCTGAAACGAGGGGGTTTCATAGCCCTTTAAAAAATTTTGTCTGTGTAGAAAAGGGTTAATGACTTACGTCTACTGTGTGTTCCTCCCCTTCACACTCTCTCTTTTTCTTTCACACACACTCATACACACACACGTATACACTCACACTCAGGTGGGACTGAATACTGGGACACATTCTGGAATACTCTCTAAACTCTG[T/G]GAGTACTTGTTTTCTGGAAACATTACTGCATTGCGTGTTTGTGGTTAGTTTTGACCCCTGGGTAACTTCTGGAGCGGAATAGCAGCAGACGCGACTTCCTTTCACTGTTAAAAATAGAGCAAACTCAAGAAAGACGCTCTTCTGTTTAAAGAACTAAAACCGAGCTGAGCTTTACAGTTTGGGCTATTTTAATGATGAGTTGTTTCTAATTGCTGGATGATGTGTTTTTTTTTTTTTTTTATATAATAATGCCTTAAATGTTTAGATTGATTCAATTTCAGATGAATTTACTTGTATGTCTTTTGGACTAACTTGCTCTTTTAAATAAAGTTAATCAATCGTAAGCACAAAGCATTTATTATATTAGAGGTCATTTATTACCTTTAATTTTTCTGAACTAAGTACAGGGTTCTTACGGGTGCTGGAAATCCTGGAAAATGCTTGATTTTTAATAGTGTTTTCAAGGTTAGAAAAGTGCTTGGATTTTGAACAAAGTGCTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34282
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085993 | Splice Site, Nonsense | 112 | 1197 | 2 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 3693176)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 3440148 |
GRCz11 | 8 | 3498897 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTCAGCTGAAGCCCTGAACGGATCTCTCTCCCCACGGCCGGACTCACAA[C/T]AGGTTCAGCTCAAACTGCACTTTCACAATAAACTTAGATTCATAGTCACT
Long Flanking Sequence:
AGACATGCGGTACAGGTGAATTGGGCAGGCTAAATTGTCCGTAGTGTATGAGTGTGAATAAATGTGTGGATGTTTCCCAAAGATGGGTTGTGGCTGGAAGGGCATCCACTGTGTAAAAACGTGCTGGATAAGTTGGTGGTTCATTCCGCTGTGGCGACCCTGGATTAATAAAGGGACAAAGCCGAAAAGAAAATTAATGAATGAATGAATGAATAATCAACTTGATCATACAAAAATATTTTACCTGAAGTACTATAATCTAAATCTAATTTATCTAAATTACAATGAAGTTTGCTTTCTGCACAGATGCATTGCTTGCAGATCTGGAGTCTTCCACCGCCCATATCTCCAAGTGCCCAGTGTTTCTGCCCGAGGAGACGCCGTACTCGTACCCCAGTGGAGGTCAGCTGTTTCAGGATGACTCTCCTCCTCCACCCCTGCCTCCTCCACCTTCAGCTGAAGCCCTGAACGGATCTCTCTCCCCACGGCCGGACTCACAA[C/T]AGGTTCAGCTCAAACTGCACTTTCACAATAAACTTAGATTCATAGTCACTTAGATTGTACACTGAGCATCGAATAGTCAACTGTCTTGCTAACAAAAATGTTTAATTCATGACTTTGAAAGGTTTTGTACCACATGGACCTAAAGTATTTATTAATTATGGCTCTATTTTAACGGTCTAGGTGCAAAGTCTAAAGCGCATGGTGCAAAAGCATTAAGGGTGTGTTCCTATACACTTTTGCTATTTTAAGGCTGGAAAAATAAGCTCTGCGCCCCGGCGCATGGTCTAACATGGTTGTGCTTAATCTATTAATGAGTTATGGGTGTGTTTTGAGCATAACGTGCATTAAACCAATCAGAGTCTCATTTCACATTCCCTTTAAGACTCAGTTGCACAGCGACATGGTGCATTGTTATATGGCGGGTTTTGTAAGTGTAAAAACTGAACGCTTCACTAGTGAGAAAACAGTTAAACAGAGCATCTGCAGCGTGAGAATAAAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa328
Status:
Confirmed mutation in F2 line
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085993 | Nonsense | 261 | 1197 | 6 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 3697813)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 3444784 |
GRCz11 | 8 | 3503533 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATGTTAATTTATGTAAACAGACCCAGCCCATGTGCTTTGACAAGCAATT[T/A]GACTGACGGCCAGTTGGACGCACCTTCCGAGCAGCAGGGCAGAATTTCAG
Long Flanking Sequence:
TCTTTTGCTAACACATCTGATTCAGTTCTTTCCAAAAACAGACATGCAACATGTTCTATATATATAGTGTTCACTGATTCCTACCTCATGCATATGGGAAATTGAATAAAATTAACTTGATTTTTATTTAAAAAAATGCTGCACTATTGATTGCAACATATCCAATCATTACAGAAGTGTGAAGGGTTATTCCATAATCATGTGGTTAGCATGGTAGCCACATCTTGTGCATGGTAGCCATATAATTAAATGATTTCAAACATGAATCATGGCACGATCTCTTGTGATGTCTACTTCATACGGTTGAATGGAACAAACCTCAAAAGAGGTGAGAGAAACGCATAAAAATATGCATAGTGGGGATTATGAGGATCAGTATTGAGAATTGCTGCTCTACAGTTAGGGAACCATGCCTTTGCATTGTGTATTTTAACGGAATGCTGTTTATTTTATGTTAATTTATGTAAACAGACCCAGCCCATGTGCTTTGACAAGCAATT[T/A]GACTGACGGCCAGTTGGACGCACCTTCCGAGCAGCAGGGCAGAATTTCAGCAACCTCTGCCACACGAGAACTTGAGGAGCTCATGGCCTGCCTCTCAGACTTTAAGGTGCAGAGCAATGTGAGTGTGTGTATAGATGCCAGCAACTTGGAATGGCTTTAGTAGGACAGTGTGAGTGAGCTGAAGAGACGTTGTGTCTTGGAATGCGTGCTGAACTATGTTGTTTGGGTGATCTATTTTTATAACTCCTTTACAATCTGGGCTATGTTTCCCAAAAACGCTGTAAGCAGATTGTCGAGACAGTTGGTGCCAATGGTATCTGCAATCTTCTTGGGCTTACAGTGCTGTTGGGAAACTTGCGTGTTTTCATCTGACATTCACAAAATTAACCAGTTTTATTCTTGTAAACTTTTTTGGCTGCTTGTCTATCTCTTTATTTTCATCTCATGATTTCACCATTGTGCCAAGTATCAGTTTCATTTTTCTTTGTTTTTTCCCTTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17685
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085993 | Nonsense | 379 | 1197 | 7 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 3698665)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 3445636 |
GRCz11 | 8 | 3504385 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACCAGGGGCTGTGCCTCTACCTTCCAATGGTGTATTTAAGTCTTACTCT[C/T]GACTGTCTCCCCCTCCAGCATCTAGTCCAYGTTTCTCTCCAGCGCCTGAC
Long Flanking Sequence:
AACTTGCGTGTTTTCATCTGACATTCACAAAATTAACCAGTTTTATTCTTGTAAACTTTTTTGGCTGCTTGTCTATCTCTTTATTTTCATCTCATGATTTCACCATTGTGCCAAGTATCAGTTTCATTTTTCTTTGTTTTTTCCCTTTGCTGTTTTGTATATGCTATTGAAGCTTTTTAATTATTTCTCATTCTCTGCATCCCTTAATCTGTCGATCTCTTCTGTTTCTCTTCTTTCTTCCCCTGTCCCTTCCTTATGTCCTCCAGCCAAGTTCTTTAGGCTCCCTGAACTCTGAGCCACTGTTTGAGCAAACTACTACCATTGCTGAAATCCACCCTCCTCCTACGACTACCGTGTCCAAATCCCTGTCCCCTACCTTACCAGCAGAATCTAGGCAATTTTCTCCAGGTCCTTCAAGCTTTGAACTGCACATTGTGGAGGATTCTGGTGAACCAGGGGCTGTGCCTCTACCTTCCAATGGTGTATTTAAGTCTTACTCT[C/T]GACTGTCTCCCCCTCCAGCATCTAGTCCACGTTTCTCTCCAGCGCCTGACTTGGGCTTGGATTCTGCCATTGATGTTTCTGCTTCCCTGCTCTCCTCGGAGGTGGAATCTCTAGTTGTTCTATCTCAGACTATACCCATGACTTCTGCACCTAGAGGTCAGTACCTTTCTCCTGTCAGAGAGGGGAGTCCATCTGCCAAATTGATGAACTCTGGACTGAACTCCTATTCGCCTAACACCAAGTCTCCTAGTCCAAGAAGTTCACCAGCGATTAGCAGAGTCAATGAACGAGTTAGTCCTTTGATGACACCGGCATCTATAGATCTCTATCTCTCCAGACCTGAAACAAAACCTTTGAGCCCAGTGCCATCCCTTCCCAGGTCTCCACTTCCTGCAGTCTCTGAATCATCTTTTCTGTCTCTTCCCAGAGCTCTCTCACCTCCTCCTATCATACCCACTTCCCCAACTCTTGGGGTTTCTAAGTCTCCAAGCCCAAAACAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17848
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085993 | Nonsense | 1012 | 1197 | 11 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 3708142)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 3454720 |
GRCz11 | 8 | 3513469 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGAGATTGGTTCCAGGAACTTCTTTGMGAGAGAAGGACAGCCATATTGC[G/T]AGAGGGATTATCACCATTWAWTCTCTCCAAGATGCTACTACTGTAACGGA
Long Flanking Sequence:
CCCAGTCATTTTCTTCAATAGTTTGACCAATATCCTTCTCCCAAACATCTTTAAGTTCTAGCCAGGCAGAAGTGCAGTTGTTAGACAAAGTGTCATAAATCCTTGTTATCAATCCTTTTAAACAAGGTGAATTCAGTAAAAGGTATTCAATCTCTGTTGTTTTGGATCTCAGCTCTCCTTTGTCCAACTTTGGTTTTAAAAAATGTCGCAATTGTATTTATAAAAATTGGATTTTGGAACGTTATATTAATCTACAATCTGTTGGAAAGATTTTATGGTGCCTTCTGAAAGTAAGCAAGATATTTGAGAGATGCCCACCATGCTGAAAAAACAGTGTTTTGCAATGTTAAAGGCATATCGGGATTAAAAGTGTGTTTGTTTCTGTACAGGTGGTAACTGCAATGGGGCGCACATGGCATCCTGAGCATTTCGTGTGCACACATTGTCAAGAGGAGATTGGTTCCAGGAACTTCTTTGAGAGAGAAGGACAGCCATATTGC[G/T]AGAGGGATTATCACCATTTATTCTCTCCAAGATGCTACTACTGTAACGGACCCATCCTGGACGTGAGAAGAAACTTCATTAATTTGATACATTTTCATTTGACTAGCATCAAAACCTGATGCCAATCCAGACTATGTGTGGAAAAATCCAGTTTCAGTTTTAGTTTCCTTTATTTATGTCATTCAACACATCACAATAGAATTGTAATGCAGAACGAAATTACGTTGCAACAGACCCAACAAGAACATTAAAAACATCACTCTACAAACAATATAAAATCCTAACATAATAAATAAGCTTTTATATTTCCATAAAAATATAATTATATAAGATATAACCTATTTTAAAAAATCTCTGAAGAGAATTACTTAATAATTAAATACCTATTTCACCATTTGCTGTAATATTAACAATTTATGCTAGTTTAACATATTTATTAACTTATTATTTAACACTAGCTTTCAACAATGCTTAAGAAATGGTATTATTCAAAAGTCTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11924
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085993 | Nonsense | 1018 | 1197 | 11 | 14 |
Genomic Location (Zv9):
Chromosome 8 (position 3708161)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 3454739 |
GRCz11 | 8 | 3513488 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTCTTTGMGAGAGAAGGACAGCCATATTGCGAGAGGGATTATCACCATT[T/A]AWTCTCTCCAAGATGCTACTACTGTAACGGACCCATCCTGGAYGTGAGAA
Long Flanking Sequence:
AGTTTGACCAATATCCTTCTCCCAAACATCTTTAAGTTCTAGCCAGGCAGAAGTGCAGTTGTTAGACAAAGTGTCATAAATCCTTGTTATCAATCCTTTTAAACAAGGTGAATTCAGTAAAAGGTATTCAATCTCTGTTGTTTTGGATCTCAGCTCTCCTTTGTCCAACTTTGGTTTTAAAAAATGTCGCAATTGTATTTATAAAAATTGGATTTTGGAACGTTATATTAATCTACAATCTGTTGGAAAGATTTTATGGTGCCTTCTGAAAGTAAGCAAGATATTTGAGAGATGCCCACCATGCTGAAAAAACAGTGTTTTGCAATGTTAAAGGCATATCGGGATTAAAAGTGTGTTTGTTTCTGTACAGGTGGTAACTGCAATGGGGCGCACATGGCATCCTGAGCATTTCGTGTGCACACATTGTCAAGAGGAGATTGGTTCCAGGAACTTCTTTGAGAGAGAAGGACAGCCATATTGCGAGAGGGATTATCACCATT[T/A]ATTCTCTCCAAGATGCTACTACTGTAACGGACCCATCCTGGACGTGAGAAGAAACTTCATTAATTTGATACATTTTCATTTGACTAGCATCAAAACCTGATGCCAATCCAGACTATGTGTGGAAAAATCCAGTTTCAGTTTTAGTTTCCTTTATTTATGTCATTCAACACATCACAATAGAATTGTAATGCAGAACGAAATTACGTTGCAACAGACCCAACAAGAACATTAAAAACATCACTCTACAAACAATATAAAATCCTAACATAATAAATAAGCTTTTATATTTCCATAAAAATATAATTATATAAGATATAACCTATTTTAAAAAATCTCTGAAGAGAATTACTTAATAATTAAATACCTATTTCACCATTTGCTGTAATATTAACAATTTATGCTAGTTTAACATATTTATTAACTTATTATTTAACACTAGCTTTCAACAATGCTTAAGAAATGGTATTATTCAAAAGTCTTATAATGACAGGATAAAACTA
Associated Phenotype:
Not determined