Busch Lab

ZMP

JAKMIP3

Ensembl ID:
ENSDARG00000021213
Description:
Janus kinase and microtubule interacting protein 3 [Source:HGNC Symbol;Acc:23523]
Human Orthologue:
JAKMIP3
Human Description:
Janus kinase and microtubule interacting protein 3 [Source:HGNC Symbol;Acc:23523]
Mouse Orthologue:
Jakmip3
Mouse Description:
janus kinase and microtubule interacting protein 3 Gene [Source:MGI Symbol;Acc:MGI:1921254]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa42094 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa35370 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa24920 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa38905 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa31894 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa42094
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000054593 Essential Splice Site 212 628 6 19
Genomic Location (Zv9):
Chromosome 12 (position 43764061)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 41155569
GRCz11 12 41650110
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATTACATATTTGTGATTTTGACATACTTTTGTTTTTAATGGTGTTCTTC[A/T]GGAGCGAGATATGCTGCTGAGATATAGGAGACAGGACAGCCTGCGCAGGA
Long Flanking Sequence:
TTTGCAGGCTCTGGAAACCGCTGGATATGTGAAGACTGTGATAGTAAGTAATTTTGCCTCTGGGAAATATTCACACTTTATGTTGCTAAAATATGTCAGGGTTTTTTTTTGCATATGAGTTATATACTGTACGTCTTGCCTAACAAAACCCAGATGAAAAATGTGTTTTCTCAAAGGGTGAATGATATTATCAACTACTGTATGTGTGTGATGTTCAAATATTAATCTAAATGCAAATACCAGGCATCACCTTATGGATAAACCTACAAATGTTGTGCAAACGACACATTTTAAAAACACCACAGAAGTGAGATGTTCTTGTAGGACAGTGATTTTGATGTGTTTGGTTTTTATTTATTTGGATTAATTCCTTGAGATACACAGTACCATCTCATTTTTAAGGGAGTCCCACAATTTAATAGAACCACAAAAACACAAAACAAAAACACTTATTACATATTTGTGATTTTGACATACTTTTGTTTTTAATGGTGTTCTTC[A/T]GGAGCGAGATATGCTGCTGAGATATAGGAGACAGGACAGCCTGCGCAGGAAGAAGCCCTTCAGAACCTGTAGAGTACGCAGACATCAGGATAAATCTACACATCGCACTGTCAAATAATAATATTAATAGGGCAGCATGATAGCTCGATGGTTAGCACTGTCGCCTCACAGCAAAAACATTGCTGTTTTGAGTCCTGGCTGGGTTAGTTTACATTTCTGTGTGGAGTTTGCATGTTCTCCCCATGTTCGCGTGGGTTTCTTTCGGGTGCTCAGGTTTCATTCATTCATTCATTTTCCTTCAGCTCAGTCCAATATTTATAAGGGGTGGCTACAGTGGAATGAACCACCAACTATTCCAGCATATGTTTAAACCTATGCAACCCAGTACTGGGAAACACCCATACACACTTATGCACACACACACACACACTCATTAGTTTATTCAATTCACCTACAGTGCATGTGGTTGCACTGTGGCGGAACACCCAGAGGAAACCCGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35370
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000054593 Essential Splice Site 275 628 8 19
Genomic Location (Zv9):
Chromosome 12 (position 43767177)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 41152856
GRCz11 12 41647397
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTTTGTGTAAGCTGTGCCTGTAAACGCGTTGTGTGGGTGTGTGTGTGT[A/G]GGGCATGCTGAAGGAGGAGACAGAGCTGCGTTTCCGTCAGCTGACGATGG
Long Flanking Sequence:
TACAAAAAGGAGGTGAAATGTGAGGACATTGGTGACGTCCTCATTTCTCAAAATGCTTTTAAATCCAACAGAGTGAGTTTAATCAGAGAGTAAAGCTGCACACAGTCTCTTGTGATGGTTGGGTTTAGGGGTAGGGTAGGATGAGGGCAATATAATATACGGTTTGGGCAGTATAAAATGAATGGAAACCTATGTAATGTCCCCAATTTTCACAAAAACAAACGTGTGTATGAATGAATGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCACGCATATACTGTGCATGTTAATGTGTTGTGTGTGTGTGTTTGTGTATGCTGTGCCTTCAAATGTTGTGTGTGTATACTCTGCCTGTAAGTGTGTGCGTGTACACATGTAAGTGTGTGTATGCCTGTGCTGTGCCTGTTAATGTGTTGTATGTGTGTTTGTGTAAGCTGTGCCTGTAAACGCGTTGTGTGGGTGTGTGTGTGT[A/G]GGGCATGCTGAAGGAGGAGACAGAGCTGCGTTTCCGTCAGCTGACGATGGAGTATCAGGCTCTTCAGAGGGCTTACGCTCTTCTGCAGGAGCAGGTGGGAGGAACCTTTGATGCAGAGAAGGAACTGAAGGTAAATCATTTAAACACATCAAACATTTACAGTCGCCTAACAACAACATCTCAGCTCTTAGCCGACGCTTCTTCATACTGCAGGAATGTCATTCTTTTAGCTGCGTTACTAGGTCATAAATAACACTATGAACTAAAGTATCATGCTGTAAAAATGTATTACTTCTGTATTAATGACTTCTTGGCGGCACAGTGGCTCAGTGGCTAGCACAGTCACCTCACAGCAAGGAGGTCACTAGTTCAAGTACCGGCTAGGCATTTCTTTGTGGATTTGGCATGTTTTCCCCATGTTGGCGTGGGTCTACTGTTGATAGTAGAAATGATAGTTATAATGACAGTAAAAATGACAACAACCATAATAATAAATATAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24920
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000054593 Essential Splice Site 317 628 8 19
Genomic Location (Zv9):
Chromosome 12 (position 43767308)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 41152725
GRCz11 12 41647266
KASP Assay ID:
554-7803.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTGCAGGAGCAGGTGGGAGGAACCTTTGATGCAGAGAAGGAACTGAAG[G/A]TAAATCATTTAAACACATCAAACATTTACAGTCGCCTAACAACAACATCT
Long Flanking Sequence:
TAGGGTAGGATGAGGGCAATATAATATACGGTTTGGGCAGTATAAAATGAATGGAAACCTATGTAATGTCCCCAATTTTCACAAAAACAAACGTGTGTATGAATGAATGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCACGCATATACTGTGCATGTTAATGTGTTGTGTGTGTGTGTTTGTGTATGCTGTGCCTTCAAATGTTGTGTGTGTATACTCTGCCTGTAAGTGTGTGCGTGTACACATGTAAGTGTGTGTATGCCTGTGCTGTGCCTGTTAATGTGTTGTATGTGTGTTTGTGTAAGCTGTGCCTGTAAACGCGTTGTGTGGGTGTGTGTGTGTAGGGCATGCTGAAGGAGGAGACAGAGCTGCGTTTCCGTCAGCTGACGATGGAGTATCAGGCTCTTCAGAGGGCTTACGCTCTTCTGCAGGAGCAGGTGGGAGGAACCTTTGATGCAGAGAAGGAACTGAAG[G/A]TAAATCATTTAAACACATCAAACATTTACAGTCGCCTAACAACAACATCTCAGCTCTTAGCCGACGCTTCTTCATACTGCAGGAATGTCATTCTTTTAGCTGCGTTACTAGGTCATAAATAACACTATGAACTAAAGTATCATGCTGTAAAAATGTATTACTTCTGTATTAATGACTTCTTGGCGGCACAGTGGCTCAGTGGCTAGCACAGTCACCTCACAGCAAGGAGGTCACTAGTTCAAGTACCGGCTAGGCATTTCTTTGTGGATTTGGCATGTTTTCCCCATGTTGGCGTGGGTCTACTGTTGATAGTAGAAATGATAGTTATAATGACAGTAAAAATGACAACAACCATAATAATAAATATAGCTGCAAGCAGCAATTAAGGGGCCAAGCAGTTCAGAGGCAGAATGAGCAAAGCAGTCCAGAGGCAGAATGAGCAAAGCAGTCCAGAGGCAGAATGAGCAAAGCAGTCCAGAGGCAGAATGAGCAAAGCAGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38905
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000054593 Essential Splice Site 472 628 14 19
Genomic Location (Zv9):
Chromosome 12 (position 43773308)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 41146725
GRCz11 12 41641266
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCAAGTGGTGGTTATTCATGCCAGGACCGTACTAACATTAGCAGAGAAG[G/A]TATGAGACGTTTCATTGTAAGTTATTTTATATTGTTCGCTTGCTGTTTTA
Long Flanking Sequence:
TTGGATATAATGGGACATTAAATAGGATGTTTAAAAAATTCTGAAAATACAGGTATTGATGAAAACCATTCACATGTAAAACAACACCTATTTACCTAGAATTATTATTATTATTGTTAATTTATTATACATGATCTGAGAGCTTCAATGTTTTGTGCAGTTTTCAGTTGTTGATATCAAATGAAATAGACTGTGCTTTTTTATCTGATAGAAGGAGTTTTTGGTTAATTTCTCTTAATATTAAAGTCTTTTTCACACTGCAGGATATTGTGATCACGGAGCTGATGAAGAAGCTTGATATTCTGGGGGATAACGCCGTAAGTGTATGTTGATTTCATCTGTAAATGTGTGTTTCCTCATGCCTGGTTTTGTGTTCGATACACACGTGTTTCTGTCACTGATGTCTGTCTTCTGATTGGATGACACACACACAGAATCTGACTAATGAGGAGCAAGTGGTGGTTATTCATGCCAGGACCGTACTAACATTAGCAGAGAAG[G/A]TATGAGACGTTTCATTGTAAGTTATTTTATATTGTTCGCTTGCTGTTTTATTAATTTGTCTTTGTTGTTTTCAGTGGTTAGAAAATATTGAAGTCACCAAATCAGCATTACAGCAGAAGATGATGGACATTGAAAGTGAAAAGGTAAATACTTTACATCCTTTCATTTCATCTTACTGATATTATCCAGAATAAATAAATTAATAATATAATACAGTAATACATTATAATTCAGAAGTGAATTGTGACTTATAAAAAATGCAAAGTCCTTTAATTAATAAAAAAAGTTGTTTTTTATATTACATTTTTCTCTTTGAGCTTTGTCATTAGATATTATATTTATAGATAATATTTTGTTTTATTTTTTATTAAAAAATATTTTTCATTGTTTATGTTTGTTTATATTTGTTTCATTATCATTGTCATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATAGATAAGTAATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31894
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
ENSDART00000054593 Nonsense 570 628 17 19
Genomic Location (Zv9):
Chromosome 12 (position 43777893)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 41142139
GRCz11 12 41636680
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCGCTGAGAGGAGCTGTGGATCAGTGGAAGCGGCAGGTCTTGAGTGAAT[T/A]ACGAGAGAGAGACGCGCAGATCCTGAGAGAGAGAATGGAGCTGCTGCAAC
Long Flanking Sequence:
GTGAGTTTCGGGTAGAACTTCTCCCGGATCTCTGAGTATTTTGTGCACTCCGTAAGGAAGTGCAGTTCTGTTCAATCGGCTGCTGAGGGCAGTGTGGGCACAGCCGCTCCTCCACCGGCAGCCATGTTTGTCTGTGCCGGCCCGTCTCTATAGCCAGCTGGTGTCCGCTGAGTCTGTATCTGCTCAGGGTGTTCCTCAGACCTTTATCTGTCACTGTGTTAAGGTAGTCTGCCAGAGTATATTGTCTCTTCAGGGCCAGATAACATTGCATTTTGCTTTGCAGTTGTGTTTGAGTGTCCCAGTGGTGTGTGTAGCTGTTCTTGATCTGGTGTGTCTCTCTCTCTCTCTCTCTCAGCGTATCCTGGAGCTGGAGGCGATGCTGTTTGACGCTCTGCAGCGAGAGGAGTCGAGCGGGAAGGTATCGGAGCTTCTGAGTGAACAGGACCGGGATTCGCTGAGAGGAGCTGTGGATCAGTGGAAGCGGCAGGTCTTGAGTGAAT[T/A]ACGAGAGAGAGACGCGCAGATCCTGAGAGAGAGAATGGAGCTGCTGCAACATGCTCAAGCGGTACACTATTACACAAAACACTTTATTCATATCTAGCTATGTATCATATTTATGTATTCAATTAATTTCATCTTTATTTCTATAGCACTTTTACAATGTAGAACCAATGTCAAACCAGCTTAACGTAGAAGTTCTAGTAAATTGAAACTGTGTCAGTCAAGTTTACAGGATCGAAGTTCAGTTTAATTCAGTATGGTTTTCCCCCATTTTTGCACTGTAAAACCCAATAGTCAACTTTATCAAATGAAATGAGTGTCGTTAACTCAATTAAATCAGCATGTCTGAAACTCTAAAAATTCTACTCATTTGAAAAGAGTTTTGAACTCTGTGTTGAGAGTAATGAGTTCATTAAATATCTCATTACTTCATATTATAAGTTCACAGTACTCATAGAGATTAGTTTTTGAACTTAAGTGGTTTGAGTTACCTTAACTTTTTG
Associated Phenotype:
Not determined