Busch Lab

ZMP

LOC100333073

Ensembl ID:
ENSDARG00000053678
Human Orthologue:
SLC4A3
Human Description:
solute carrier family 4, anion exchanger, member 3 [Source:HGNC Symbol;Acc:11029]
Mouse Orthologue:
Slc4a3
Mouse Description:
solute carrier family 4 (anion exchanger), member 3 Gene [Source:MGI Symbol;Acc:MGI:109350]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa34759 Nonsense Mutation detected in F1 DNA Not yet available
sa34758 Nonsense Mutation detected in F1 DNA Not yet available
sa41548 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa34759
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075745 Nonsense 41 1172 2 23
Genomic Location (Zv9):
Chromosome 9 (position 47251726)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 46803373
GRCz11 9 46603852
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGAAGTACATTAACATCATGCTGATTTTAACCTGTCTTTGTTTTCTCAGA[T/G]CACCGGCACACCTTCCACCATACCCACCACCCCCTGTCCACACATCTTCC
Long Flanking Sequence:
CTGCGATACCTGTTTCTGATTGATGCTCTGAACATCGGTGGTGGCATTCTCTGAGCAAATATGTTTGTATAATGATACTCAACTATATAATTGGCCATTTGTCAAAGCTAGTCGATTGCCTACATTGCTGTACTAGTCTCTAGTAGCATTCTCAATGTTATCTGTTATTTGAAGTTTGTGTGAAATTAAAATTTACAGTGTTCCTTTTGATAGCGCACATTGTTATTCTTTAGGTGAACAATAAATTTGTTTGTTTTGGTAATATTCAATCAAAGTCTGACCGTTTTCTTCTGTGTTTGGATGGGCGATCCATCTATGATGATGTCAGTTTGAAGGCTTCAGCCACACTATTATTAACCACGCCTCTCTTGTCATTAGCTTGCAATTAGGTAATGTTGTACAAAAAGAAAGCTCCGCCCCCTACTCAATATTCAATACTCCATTTCAGTTGGAAGTACATTAACATCATGCTGATTTTAACCTGTCTTTGTTTTCTCAGA[T/G]CACCGGCACACCTTCCACCATACCCACCACCCCCTGTCCACACATCTTCCACCGCAGCGTTTCCGAAAAAGGGTGCTCAGTATGGACCGCCGGCGGAAGAGAAAGAGGAAGAAAAAGAAGACGTCTATGCCTCCGTCAGATGTCACACCCACTATTCATGAAGTGGATGAGGAGGAGGCGGAGTCTGAAATCGAGGGGCAGTGTCAAGCAGCCACACCTACTGAGCCATCTGAAGAGCTGCCACAGGTAACCTGAAAGAAAATATCATACTACTGTTTAGGGCAGAAAGTGCACACTGCCATTAAAGAAGTGCAAGTTACCTTTGCCAAGTGCACTGACACAACCCATTCCACGACAGACCCCGGCTTTTTGACTTGTTGGAGTCTGGATGATCCTTTTCTTCTTTGGTCTGGAGCATACAGCATCCATTTCTCCTCAAAAATACCTGAAATACTGATTCATCTGACTACAGTACAAGTTTCCACTGTGTGATGGTCCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34758
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075745 Nonsense 123 1172 2 23
Genomic Location (Zv9):
Chromosome 9 (position 47251482)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 46803617
GRCz11 9 46604096
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGGGCAGTGTCAAGCAGCCACACCTACTGAGCCATCTGAAGAGCTGCCA[C/T]AGGTAACCTGAAAGAAAATATCATACTACTGTTTAGGGCAGAAAGTGCAC
Long Flanking Sequence:
ATTTGTTTGTTTTGGTAATATTCAATCAAAGTCTGACCGTTTTCTTCTGTGTTTGGATGGGCGATCCATCTATGATGATGTCAGTTTGAAGGCTTCAGCCACACTATTATTAACCACGCCTCTCTTGTCATTAGCTTGCAATTAGGTAATGTTGTACAAAAAGAAAGCTCCGCCCCCTACTCAATATTCAATACTCCATTTCAGTTGGAAGTACATTAACATCATGCTGATTTTAACCTGTCTTTGTTTTCTCAGATCACCGGCACACCTTCCACCATACCCACCACCCCCTGTCCACACATCTTCCACCGCAGCGTTTCCGAAAAAGGGTGCTCAGTATGGACCGCCGGCGGAAGAGAAAGAGGAAGAAAAAGAAGACGTCTATGCCTCCGTCAGATGTCACACCCACTATTCATGAAGTGGATGAGGAGGAGGCGGAGTCTGAAATCGAGGGGCAGTGTCAAGCAGCCACACCTACTGAGCCATCTGAAGAGCTGCCA[C/T]AGGTAACCTGAAAGAAAATATCATACTACTGTTTAGGGCAGAAAGTGCACACTGCCATTAAAGAAGTGCAAGTTACCTTTGCCAAGTGCACTGACACAACCCATTCCACGACAGACCCCGGCTTTTTGACTTGTTGGAGTCTGGATGATCCTTTTCTTCTTTGGTCTGGAGCATACAGCATCCATTTCTCCTCAAAAATACCTGAAATACTGATTCATCTGACTACAGTACAAGTTTCCACTGTGTGATGGTCCATTCCAGATGCCTCCTAGCAAAGTTAGGTTGACAGCGATTTTGGACACTGTTAACATATGGCTTCCTTTTGGCATAGTACAGTTTTATCTGGCATTTGTGGATGTAACAACATATTGTGGTACTTGACAAAGGTCTGCCAAAGTGGTCCTGAGCTCATGTGGTGATATTGCTTATAGATGATTCTATAGAGACAATTCTTAATGCAGCTTTTGAAAAAAACAGTGCCTATATGGTATAAATGAACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41548
Status:
Mutation detected in F1 DNA
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
ENSDART00000075745 Nonsense 472 1172 11 23
Genomic Location (Zv9):
Chromosome 9 (position 47198612)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 46856487
GRCz11 9 46656966
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGTTTGTGTGGTTTGTGATTTTTACCGCAGTAAATGTGTTTATAGGGTG[T/A]GTGGAGTTCCTAGAGAAGCCTGCGATGGCCTTTGTCCGGCTGAACGAGTC
Long Flanking Sequence:
GGTTTAGATTTGCTCTCGGTGATGCAAAACAGGCACAATGGTTCATTAAAATTCACCAAACGCACATGCATGCTGAATCCATGAACGAAACAGCCGTATGGAACAATAAACAATCGCAGCGAGGGTAGCTGTGCATGTGCTATCTGCCAACGCTTGCCTGTCACAGCTCCAGGCTGATGTGTGTGATGTTTGAATGGCACTAACTATTTTCTTCTCTCCACAAAAGAAAAGCCTCCACCCCATCCCAGCTGAGGGACACGCCGCCTCCAGATCTTTGAAACTCTTGGCAAAGATTCCCAAGGATGCCGAAGCAACTGTGGTCTTAGTGGGTAAGCTTCGTTCCAGCGTTTGTTGTTTTCAGGTCCTGCGAAGATGTTGAGTCACCGCACCAGAGCTCAGCTAACCCAAGACGAATGCTTTCTGTTGTGTTTGATTTCTGTCACTAGTTCTTGGTTTGTGTGGTTTGTGATTTTTACCGCAGTAAATGTGTTTATAGGGTG[T/A]GTGGAGTTCCTAGAGAAGCCTGCGATGGCCTTTGTCCGGCTGAACGAGTCTATCCTGCTGGAGTCCATTCTGGAAGTCCCTGTTCCCATTCGCTTCATCTTTGTGCTGTTGGGTCCCACGCAGACCAACGTGGACTATCATGAGATCGGGCGCTCCTTTTCTACCCTCATGTCTGATAAGGTTGATATGCATCCATTATGAATCATGATTTGCTTATTATTAGGTCACAAATTTCAAGATGGTACAAACCCAGTGATATATTTAAGTGAACCTATTATGCAAGAATCACTTTTATAAAGGGTTTAAACACAGTCAGAGACAGCCCTCAGTGAGAAGCAGCCGTCCGCCATTAGAATTTTCATGCAGTACAAACTAAATATAATGTGGAATAAAGATAAAAAGCATAGTGTAGTTTTTCAGAGAGATAATATTAGCCCTGTTTTAAATCTGCCGCTATGCTGATTCATAGGTGTTTGTAGCTCCTCCCTCTTTTGAAAAGA
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa27481
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075745 Essential Splice Site 948 1172 19 23
Genomic Location (Zv9):
Chromosome 9 (position 47184329)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 46870770
GRCz11 9 46671249
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCGGCCCTGCTGGTTTTTATCCTCATATTCATGGAGACGCAGATCACCAC[G/T]TGAGTAAGCTAACATTACCATGCACAGTCCAAAGTTATTATAGTTTTGCC
Long Flanking Sequence:
TGGATATACTCATCCCTGATACATACACACAGGTAACCACACACACACACACACACACACACACACACACACACAAAAAAAAAAAAATAAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAAATAACCACAAAAATCTCTACTCCCAATGTACACTCTACTTATTAAGCACTGGCCTTTAATTGGAACCAGGTTTCCTCTGAGTCTGTATTACATTGTGGTTGGTTTGGCAGAGCGCTGTAACCAGTGTAGCCTGGGATCTCTGGGATACGAGGACTTGTGTTTTTTGTGGTTGCAGAAACTGAACGTCCCCTCTGGTTTCTCGGTCACATCTCCGGACAAACGAGGCTGGTTTATCAGCCCGTTTGGAGATAAACAGCCGTTCCCGGTCTGGATGATGGGGGCCTCTGTGATCCCGGCCCTGCTGGTTTTTATCCTCATATTCATGGAGACGCAGATCACCAC[G/T]TGAGTAAGCTAACATTACCATGCACAGTCCAAAGTTATTATAGTTTTGCCTTTCAAATTAGCTTTGATTTCAATAGTAATTTCAAGTTTGGTGTAAGTTTTTTTTATTTTTATTGGTGGCTTCGCTAGTTTTAGTTTGCGAACACATTTATATTTTATTTTATATATACAGTATCATGGATAGTATATTTTAGTTAACTATATTAACTCTTGAGCAAACCTCTTATGCAGGATTCATAACAAACGCAGAGCACTGTGACACTGACGCAAGGTTTTTCATCTCAGGTGAATTTTCAATTGAGCTGAAATTCATCTATATTTGCACATTTGTATTCACTTTATATGTAATATACTTAATACCACTTAAGTGAATACCTAGTTTTACTTTTTGGTGTGAACAAATATATAAAATAAATAACAAAAAATCCATAAAATGTATAATATGTAAAAGTAAAAATAATAAATTATATTTTGTCAAACATGCCTAGTTACATATTTTGG
Associated Phenotype:
Not determined