ZMP

specc1lb

Ensembl ID:

ENSDARG00000042232

ZFIN ID:

ZDB-GENE-090423-1

Human Orthologue:

SPECC1L

Human Description:

sperm antigen with calponin homology and coiled-coil domains 1-like [Source:HGNC Symbol;Acc:29022]

Mouse Orthologue:

Specc1l

Mouse Description:

sperm antigen with calponin homology and coiled-coil domains 1-like Gene [Source:MGI Symbol;Acc:MGI:

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa43597	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa11703	Nonsense	Available for shipment	Available now
sa6665	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa43597

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 > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000061912	Essential Splice Site	97	1121	2	15
ENSDART00000142569	Essential Splice Site	97	1121	3	16
ENSDART00000146062	None	None	106	None	3

Genomic Location (Zv9):

Chromosome 21 (position 11446890)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	13148255
GRCz11	21	13245243

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCCTCTCAGATCACCAGCAACACTGAGACAAGGTCCAAGACCACTTCAGG[T/C]AGTGTTAGGTATTGCCTTGGTTCTAGCATATTCAGCAGGAGGTTTTTTTG

Long Flanking Sequence:

AGCTTATTCGTCCAAATGATTTACCATCTGCTTTCATTTATATAGATTACGCTGTAAATGTATCAAGAACTTGGAACCAAGCATGAAAAAGGCGACCAAGCCCACGGCCGCCACCTCCAGGACCTCAGTGGGCACTAAAGCCCCAGGCAGATCAGAGGGAAGCAGCAATATGGGCACAGGAGGCAAGATGACAAACAAAACCCAGAGTTCAGCTCCACTTTCTAAGGTAGCAGTTTTACTCTGAGGAATCTGAAACGTTTGTTTTTAAGCATGTTGAACCAAGTGCCAGCTAAGACTGCTGGATTTAACTTGTCTGTTGCAGATCATTAACTTAATTTTTTGCTTGCTAACCAGGCAAAGAGCAGTGATGATCTCCCAGCGGTGAGTGCAGGAAGTGGATCTGTTTCTGCTAGCAACAGTAACACTACTGCTAGAAACAAGAGAGGATCCTCCTCTCAGATCACCAGCAACACTGAGACAAGGTCCAAGACCACTTCAGG[T/C]AGTGTTAGGTATTGCCTTGGTTCTAGCATATTCAGCAGGAGGTTTTTTTGATAATGAAATGTCTATAGTAGTTATACATTTATGGACACATTCTGCTTTTACAGGTCTTTCAGGAAGGCGTGCAACGTCAACTGTGTCTAAGGAGCCAGGCTTGACTAGAGATAACTTGCGAGAAAGATCCAGAACCAGTGTTGCCAAAAAACCCACCGATACCATGCCTCAAAAGCGTTCACGATGTCGTACCTTACCTGACTCTGAGTCAAAAATGAGCAAATCTCGCTCAGACAGCCAGATAAGCCATAAAGCAGTTCTTGAGTGTCAAGTGAATGACCTTCTTGGTTTAGCCAAGAGCAAAGACCTGGAAATCCTTCATCTTCGCTCTGAACTTCGAGGCATGAGAACTCAGCTTGGCTTGGAAGAACTTGAGGCTCCTAACCAAGAACAAGTGTCTCAAGAGACCATGCAGCCTCCAGAGAAAGAGGTTATCAGTGCCACAGATG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa11703

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:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000061912	Nonsense	572	1121	3	15
ENSDART00000142569	Nonsense	572	1121	4	16
ENSDART00000146062	None	None	106	None	3

Genomic Location (Zv9):

Chromosome 21 (position 11448419)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	13149784
GRCz11	21	13246772

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CCAAAGCAGAGTTAGARGCATTAAGGGTGCTGTCTGAAGGGGAGCAGGTG[G/T]AGCTGAACCGCTGTAGAATCCAACTTGAGCAAGAGAGGCAGAGAGTGGCC

Long Flanking Sequence:

GCACGTCAGAAGAACTCCAGGCCACCCTGCAGGAGCTTGCAGATCTGCAGCAGATCACTCAAGAGCTGAGCACAGAGAATGAACGGCTGGGCGAGGAGCGTGCTATTCTGGTGGACTCCCTCTGTCAGCAAGGGGAGCGTCTGGAGCTATATGGAAGACAACTGGAGTACTTTCGTGGACTTCTTGATGAGCATTGTGTGGCCTATGTCAAGGATGATGAAGACGCCAAAAGTGGGCGCTATGTAGAGCTGGAAAGGCGCTATGCCGAGCTGAATGAGGGCTCCCGTTTTGAACGGGAGCAACTTCTGGGAGTGCAGCAACAGCTAAGCAGTGCCCTAAAGATGGCAGAACATGAGAATGCAGAAGCCCAAGGCCTCATGGCAGCATTGAAAGAGCGTGTCATTATGGCAGAGAGAGCTGTGGAAATAGAGCGGCGGGAGCGAGCAGTTGCCAAAGCAGAGTTAGAAGCATTAAGGGTGCTGTCTGAAGGGGAGCAGGTG[G/T]AGCTGAACCGCTGTAGAATCCAACTTGAGCAAGAGAGGCAGAGAGTGGCCCAGCTCCTCTCCATCCACAATGCAGGGGATAAGACGGACATACGCCACCTGCTGGAAAGCGAGAGATTAGATAAAGAGCGAGCAGAGGCCAAAGCAGCTCAGTTAAAAGAAGAACTTGGGCACACACGCAGTGAAGCTGCCCAGCTCCAGGAGGCGATTAGCAAGGTGAAACATATTCAGAAAATGTATACCTTTGCTTGCCTTAAAGGAACTCTCTACGCTTTTTGGAAATAGGCCACTTTTACAAGTCACCCAGAGTTCAACAGTTGTCTTTAGCCATTTTTTAATCTATTCAGTTGGCGGCAACGATTTTAGCTTAGCATAGCGTAGATTATTAAATATGATTTTAAAAACTTTTAAATCTATAGTCAATCCAAACATTAATTCTGGAAACCAATTTCTATTGGGGTATTTATTTTTTGTTTTATTATTTTTGTATTGTTTTGTACA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa6665

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000061912	Essential Splice Site	1092	1121	14	15
ENSDART00000142569	Essential Splice Site	1092	1121	15	16
ENSDART00000146062	None	None	106	None	3

Genomic Location (Zv9):

Chromosome 21 (position 11485464)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	13186829
GRCz11	21	13283817

KASP Assay ID:

554-4492.1 (used for ordering genotyping assays)

KASP Sequence:

CACTTTAGCCTTCCAGGCAGCAGAAAGCGTTGGAATTAAATCAACACTGG[T/A]GAGTTGAGTTTAATATGATCATCACCACTATTTTACATATCCATTTGCTC

Long Flanking Sequence:

TTCCAGATGACTTTATTAATAAGTGATTTGAGTCATTGCAGAGATGTATGGATGCAGTCCTCCAAGCTCATGAGAGACATACACAGTATTAATTCTTTTTCCACTGCACCATGACTTTATATTTTTTACTGTACATTATTTCTGTTAAGTGACAAGACATTTGAGTAAGCAAAGTCAGACCTTAGTGTCCTAATTAAATAATAAAAAATCAAGGCATGATTATATTGTATTTTGGTAAAATAAGCGTAATCTAGAGGCCTTTGACTTTCATATAAGCCACTTCTGATGTCAAATGATCAACTAGTAGTCAAGTTATTATTTGTTATTCCTAAAAGACTTTTGTCAGGTAGTGTACATTTTGTTTTTCAGTACCAGTCATTACTAAACTGTCTTTTAGAGTGTTTACAAATTTCAGTTCATTCATTGATGTCTTTTGCAGAGGCGAAATTTCACTTTAGCCTTCCAGGCAGCAGAAAGCGTTGGAATTAAATCAACACTGG[T/A]GAGTTGAGTTTAATATGATCATCACCACTATTTTACATATCCATTTGCTCAACTTCCTTGAATTTTTTATATGTACAATGTTTTAGGAAGAAATTCAACATTTTATTTAGCAAGAATGGCTTAATTTTCTCATAAGTGACTGAAAAGATATTCTGATCAGGCTGTTTAAAGTATATCAAAGTAGTTTCCAATTATAATATTTCACAATACTACAGCTGTTCATATATATATATATATATGAACATGGTGAACATATTTGTAGATTCATTTTTATCAGATTAGACTTATTGAAATCTGTCATACACAACTTTTCTTTAGGATTTTCCTAGATTTTGTGTTTATAAATTGTGCTTTATCAGTTGTGAATTGTGATTGCCGTTGTATTTAATTGAATGATTTCATAAAGCTGTGTTTGCAGTAAATGGTGACTGCTTGCCATGTTATAAAAGCTGTTTTGTGTGCCCTTTGCTCAACAAGCTTTGCAAGATACTTCTGTAACA

Associated Phenotype:

Not determined