Busch Lab

ZMP

LOC100333724

Ensembl ID:
ENSDARG00000074149
Human Orthologue:
ITPR1
Human Description:
inositol 1,4,5-triphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Mouse Orthologue:
Itpr1
Mouse Description:
inositol 1,4,5-triphosphate receptor 1 Gene [Source:MGI Symbol;Acc:MGI:96623]

Alleles

There are 11 alleles of this gene:

Allele Name Consequence Status Availability
sa10895 Nonsense Available for shipment Available now
sa31844 Essential Splice Site Available for shipment Available now
sa21954 Essential Splice Site Available for shipment Available now
sa21953 Nonsense Available for shipment Available now
sa12719 Nonsense Available for shipment Available now
sa21952 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa10895
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Nonsense 235 2782 7 61
Genomic Location (Zv9):
Chromosome 11 (position 36810974)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35708202
GRCz11 11 35970185
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGAAGATTGTTTTATTTAWGAAGTGGAGCGACAACAAGGAGGCYATTCTT[A/T]AAGGGGTAGATGACCTATGAAATGTCATTTTTTTNYAAGATATGATGCTT
Long Flanking Sequence:
TTTTTACACAGTTTTTTTTAACTACCTCACACGTTTCTGTTAATATTATTAAAGCAATGGCTAATCAGAGATGTAGTTCTGTTGAGCTGCATACTTTCAAATTCTCTCACCATCAGCACCAGCAAACTCCTGAAACTATGAACTAAGGGAATCATTTTGCGGCGTCAGTGATTAAAACTGGAGTTTCAGCATAACTAATGCTTGACTAACGACACAGACGGACATGTTCTGACGAGACATTCCTTCAATTAAAATGATTTTATTTGTAATCAATTTATAAACAGATGTTGTCCACAAATCCTGAATCTGAACATCCTGACTCTTTATGCTCTGGTAACTCTCATTTCAGAGCCAGAATGACTCTGTAGTGTGAAATGTAGTTTGTATTAAGTGCTGTTTTTTCCCTCTGTGTTTCTCCTCAGGTGAACTCGGTGAACTGCAACACGAGCTGGAAGATTGTTTTATTTATGAAGTGGAGCGACAACAAGGAGGCTATTCTT[A/T]AAGGGGTAGATGACCTATGAAATGTCATTTTTTTTCAAGATATGATGCTTCTGTAGTAATTGCATCTCTGTGGTTGTTTAGGGGGACGTTGTTCGGCTGTTTCACGCGGAGCAGGAGAAGTTTCTGACCTGCGATGAGCACCGGAAGAAGCAGCACGTGTTTTTGAGAACCACCGGCCGTCAGTCCGCCACCTCTGCCACCAGCAGCAAAGCATTGTGGGAAATAGAGGTGAGTTTTAAAGTTGTATCTGTCGGGGTGATTGTCACAGATTAACACAACCTAAATGAGTTTGGCCTGAATATAATGTGAATCTGGCTGAATAGATTGAAGTAGTGGGAGTATAAACAGTGCTGTATAAGGAGTTGTAAAAAATAAAGCTGCAAGCAGCGATGAAAGGGACCTCGCACCTGGGTTTAAGCTGACATATATATATATATATACACCATTCTTCATATATAAATAGACTTCAACTATATATATATATATATATATATATATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31844
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Essential Splice Site 342 2782 11 61
Genomic Location (Zv9):
Chromosome 11 (position 36806290)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35703518
GRCz11 11 35965501
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCTGTTTCCTGCTTCAGGTGGCAGATTTTTCACCCTTTAACTTCCAGG[T/C]ACAGTCAATCTCTCAAACGGCTCTCACTACTGTACCTTCATGTTCATCTC
Long Flanking Sequence:
ACTTGTCAGTGATTACTGGTCTTTAAAAATAGTTTCTGCTACAATCAAAAGCATTTTTAAGAGCGATGAACACCTGTTATTTACAATAGGACCAAAATTTTGCATTTAGTGCACTTGAAGCTTTTCAGAAGGGGAAATACTGTGTTAATGTCAAGTCTTCAAAAAAAAAAAAAAGATGAAAAAATCTTGCTATGCAGGTAAACCATGTTCAAAGATCAGGCCCTGACTATCTTGATTAGCTTGTGCCCACAAGTCTATCAGTTTCCTGCTGATTTCTCAGATTTCGTTGCACAATTTAAGGATGTTTTTGGTGTCTTTTTGCATTCACAGGTCAATCCTGACTATGAGGAAGAATCGCAGGAATCCCGTTCATCTGTAAGCAGTCAAATAGCTGTCGTTCTTGTGTTTGTGCTTTTGCTTTGTGTGAAGGCAAATAAACTGTTGGCTGTGTTTCTGTTTCCTGCTTCAGGTGGCAGATTTTTCACCCTTTAACTTCCAGG[T/C]ACAGTCAATCTCTCAAACGGCTCTCACTACTGTACCTTCATGTTCATCTCAGATGCCTAAATCAAAAGATGCCTCTTATCTTGAAGTTTTGTGCAGCATTGTGCTTTTGTCAAGTGTTTGTGCATTTTGTGCCATTTAAAAATTTCATTTGATTTTCTTTTTAGGCTTTGGTGGTTTTCTTTGGTTCTCATTTAACAAATGATTATAACTATTATTTAAATCTGTAGATACAGTGGGTTATAATTAAAGGGGTGGTCCAGAATTTATTTTAAGGCTTGGTTGTGTTTATAAGATGCAAAGCAATGTGTGCTCATGCTTCACTTTACTTTTTTTTCATCTTACTTTGATTATATACAGCTACTCCGCTATCATGAAAACGACATATTTCCTAGTAACGACATATTTCCTAGTTCCTCCAAAGGCCCGCCCTCAAGAGACTCTGATTAGTCAGAAATCATAATGTGCTGTGATTCGTGGATCGGTTCCATGTCACCAGGAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21954
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Essential Splice Site 1188 2782 28 61
Genomic Location (Zv9):
Chromosome 11 (position 36771129)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35668357
GRCz11 11 35930340
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAAAAGACGGACGGAAATGGCAGTGACAATTACAGAGACGTAAAAGAGG[T/A]AAAGTGTCTTTCACACGCACGCACATTTAGCTTTGTGTAGCAGTCAGCGG
Long Flanking Sequence:
ACAATCCTTTAAAACATTTTTTTGTTTTATTTAATTTTAGAACTTCTTAAATAGAGCTTTAACTTACATTTGTTAATAATTATGTTATTATTAACATGATTATTAGTATTATATTTTAATAATTACAGTTAACTTAAAATCTAACAATATTGCATGATATAACATTTATAAATATTAAAATAATTCATAAAAAATATTTTATGTAATTAACTACCTGGCTGTAGCCTAATTTGATATAATTGGTAAAATACATTAATATATTTTGTATTTTGTAAGCTGTCTTATGTTCTGTTTTTGTAAGGTCTATTTTATTTTAAAACTTCTCTCACCTTTTCTTTGGGACCTTGAAACTGTTATTAATTAAATTCAATGCATCATTCACACTTCATCCACACACTTTATTTAGCCCTCGTGTTTATTCCTTTTCTAGAGGGACTCTGGCTCAGACAAAAAAAAGACGGACGGAAATGGCAGTGACAATTACAGAGACGTAAAAGAGG[T/A]AAAGTGTCTTTCACACGCACGCACATTTAGCTTTGTGTAGCAGTCAGCGGTTATATTGCCATTCACCATAAACACTGGCAAAGCTATTTATGTGGCCTCCTTTTCTAAAGTTGATCTAATTAGCCAGTGCTGAAGTGTTCATCTAGAGGAATTAACTCCACATGAACTGTCGAAGAGTGTTTGAGCTCTTCTTTTTCTCCTGTTTGAAATAAACCCAAATATACATAAAAGACACTTTTGAAATGTTGTTTTTAAGACCAGGCATTAACAGACTTAATATTCCAGATGCCGAATCGGTCACTTTTGGTTGACTCATTTGTACAGTGCTCAACATAAATAAGTAAACATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTTTCAGTGAATATAGGTCATCTATTTTGTGCATTTGAACAAAGCAGATTTATCAAACAGATATATTTATTAACAATAGTGTTTTAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21953
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Nonsense 1468 2782 33 61
Genomic Location (Zv9):
Chromosome 11 (position 36757565)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35654793
GRCz11 11 35916776
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCAGCAATCACATGTGGAAGCTCTTTGAAAACTTTCTGGTCGACATATG[C/A]AGGGTAACGAAAGCTTATTCGGGGATTTTTAGCAACCCCAATTATTTGTT
Long Flanking Sequence:
GTATTTAAAAATGGAAATAACATACATATTTTGACCTGTACTTGAACTAAGTTCTACTTTTTGGATATAGATTGTTATTTCACTGATTAAACATGTATTACTAAAAAATAGGCTAAACTTAGTTATTTAAAACCTAGTGGCAAAAGTGGTACAGGTTTAAAATGGCATTAATTAGTACTGTGGGTATGCAGAGCAATGTTCTTGAACCCATATCAAATGTTTCTAGTTCTAAATATGCCTGACTATTTTTTATTTAATTTTTCTATGAAATTATCCTCACACTGAATGACATTTTAATTGGTGTCTTTTGTAAGTCATACTAAATATGTGTGATATAATCGTTTTCATACTTGAAAACTTCTTTACATCCCATCTTAGGTCAAAATAGCATACATCAACTTCCTGAACCATTGCTACGTGGACACAGAGGTGGAAATGAAGGAGATTTACACCAGCAATCACATGTGGAAGCTCTTTGAAAACTTTCTGGTCGACATATG[C/A]AGGGTAACGAAAGCTTATTCGGGGATTTTTAGCAACCCCAATTATTTGTTTAGCTGTGAAGTACAAAAAAAGTACCAATCTCTTGCTCGCTATCTTGAAACCAACATCAATTAAATGTTGCTGATTGCCTGTGTTTTTCAAAAAGACAAAAAGGAGTGATTCAATTTGTGTGGTATTATATGGGTTTGATGTATGATTTCTTATCATCTGAAACTGATGTGACATTTATTTTGGTGCAGGAAAGACGTGAATGAGTGTTTGTTCTGACTGTACAAATACCTCAATCTCTTAATTATTCTCCTTTCTATGGTTGTTTTCATCCAGGTCTGCAACAATACAAGTGACCGCAAACATGCTGACACGACACTAGAAAGCTACGTGACTGAAACCGTGATGAGTATTGTGACGACATTTTTCAGCTCCCCTTTCTCCGACCAGAGCACTAGTTTACAGGTAATGACCCCAATACAGCACAACATGTAAATATATATACTTGGTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12719
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Nonsense 1883 2782 44 61
Genomic Location (Zv9):
Chromosome 11 (position 36685802)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35583030
GRCz11 11 35845013
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTCAGAGAAGTTCTTYAAGGTGTTTTACGAGCGRATGAAACTCGCCCAG[C/T]AGGAGATCAAGGCCACAGTGACGGTGAACACCAGCGATCTAKSCAGCAAA
Long Flanking Sequence:
CATAAACTGTTATCAATTGTACAAAGATCTCACAAAGATAATATAATAATAGTTTATGTAATAATATAGATATATAATTATAGGTTTTATTGTATTTTGCTGTATATTATTGTAATATACAATAATATTGTTATTAAGGCATATATAATATTACAGTGCAACTAAACTTACAATTACATGTATTTATCTTGTTTATTTATCATGGTTTTGGAATTTAACTTGTTTATTAGTATAATTTGTGCTTAGATGTCAGTAATTGTTTGATTTTTATCTCATTCTAAAGGTCTAATATTATTATTATGATAAACTAAATGTTGACTATTATTTGTGCACAAAAATGTCCAGATTCAGGGGAAAAGACTTTTTTTTTTTTGTATACATCTATACACAGTATCTGTCTTCTTACCTTCCTACAGCGGTCGTTCTTCTGCCGCTTGACGGGTGATAATAAGTCAGAGAAGTTCTTTAAGGTGTTTTACGAGCGGATGAAACTCGCCCAG[C/T]AGGAGATCAAGGCCACAGTGACGGTGAACACCAGCGATCTAGGCAGCAAACGCAAAGATGAGGACACCAATGATAAGGATGTACAATCACGCAAGAAAGGTCAGGACTAATCGTAACAAGTAGTCGAAATCTAATGATCTAAAGTTTTGCAATTAGTTAATCGCCACGTCTATGCTATATTGAAAAAAAGTGATATGCTATAGCATGCTAAATAGTGTCATAATCAATATGTGGACTGATTTATTGACCTTAAAATTGTTTTTTTAAAAAATGAAAAACTGCTTGAGTGCATTATAAACTACAGACAAATGCACATCATGCTACACAAACATAATCCTCTCTATCTCTCAGTCAAAGATGTGGCTGTTATAACCGAAGAAGTGCGAGAGCAGCTACTAGAAGCCTCTACGGTCACTAAGAAGGCCTTCAGCACTTACAGAAGAGAAGCGGACGCGGATGAGCATCTGAATGCTACGGAGGGACCAAGCAGCACAGCTGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21952
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000031993 Essential Splice Site 2450 2782 54 61
Genomic Location (Zv9):
Chromosome 11 (position 36655247)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35552475
GRCz11 11 35814458
KASP Assay ID:
2260-4544.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCATATGCAGCCTTGGGGTCTTCGTTCACGTCTTCTTCTATAGTTTACTT[G/T]TGAGTACAAACACAAGCGCTCATTCACTCCAGCTCATCTTTCACACATCG
Long Flanking Sequence:
CCTCCTTGCTGAAGGAATGATTTAAGTTTCCAAAATAAAAGAGATTGTATTTTTTCCTGCAAAACTCAAAATGAGCTTACATCTTTTTATTATATTCAAAACATTTGAAGTTTATTTTTTTCTTTTGCTTTAGAAAAATCAGCAGAAAGCTTATGTTCAAATAATGACATCTCATTAACTTTATGGAAACATCTTATAACTGTCACATTAAAAAACACTTCAATCTCAGGTTGCATTCAATTGTAGGCTACTAAAATAACTGTTCTCATTGTTGCTTATCATTACACAAGAGAGAGAGCTAAAAATCTGTGGTCAAACTTTGCTGTTGTTTTCAGGTGGGCAATAAAGTGATCTTCCTAATGAGTTTTGTGGGCAATCGGGGCACGTTCACGAGAGGATACAAGGCCATGATCATGGACGTGGAGTTCCTGTATCATCTGCTGTACCTCATCATATGCAGCCTTGGGGTCTTCGTTCACGTCTTCTTCTATAGTTTACTT[G/T]TGAGTACAAACACAAGCGCTCATTCACTCCAGCTCATCTTTCACACATCGACCTCTGACCTCTCACACTTTCACTGACACTGTTTCCCAGTTCTGGGTTGGGGCTGGAAGGGCATCCGCTGCGTAAAACATATGCCGGATTAGTTGCTGATTCATTCCTCTGTGGTGACCCCTAATAAATAAGACACTAAGCCAAAGGAGAGTGAATGAATGAACTATTCTGTTTAGAAATCTTCTTACTATTAAACAAAACTATACTGGAGGGCTAATAATTTTGAACGGCTAATAATTCTGACTTCAACTGTATTTTTAGAATGGGCGTCTCTTCTAACACACACACACACACACACACATACACACAAGCACACACACACACACACACGCGCTTTCATTCACCCCATCCCAGCTTTAACATATGGACGTCTCTTCTAACTCTGACCTCTGACCTCTCGCACTTTCACCGACACTGTATACACACACACACACACACACACACACACA
Associated Phenotype:
Not determined