ZMP

sh3glb1

Ensembl ID:

ENSDARG00000010956

ZFIN ID:

ZDB-GENE-030131-6851

Description:

SH3-domain GRB2-like endophilin B1 [Source:UniProtKB/TrEMBL;Acc:B0V151]

Human Orthologue:

SH3GLB1

Human Description:

SH3-domain GRB2-like endophilin B1 [Source:HGNC Symbol;Acc:10833]

Mouse Orthologue:

Sh3glb1

Mouse Description:

SH3-domain GRB2-like B1 (endophilin) Gene [Source:MGI Symbol;Acc:MGI:1859730]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa39794	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa31267	Nonsense	Available for shipment	Available now
sa39795	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa39794

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
ENSDART00000045933	Essential Splice Site	156	360	None	9

The following transcripts of ENSDARG00000010956 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 2 (position 16001950)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	16512777
GRCz11	2	16181367

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CCTCACTCCTTTTAGGAACTTCATTGAGGGAGATTTTAAAACCATATTGG[T/C]GAGCATGCATTTTAATTCATTATATTATATTATATTATATTATATTATAT

Long Flanking Sequence:

AATAATTTAAAAAATAGTCCGCTAAAGATTTTTACAGCTTCAAAATGTTGGGCTCTCTTCTGAAAATGTCCAGCTGGTAGCGCTTGAAAAAATATGTAGTAGCTTTAGGACAGAGGATCAGATCTGCTTTACAATTGATTGGCACAAAAAAAAGTTCCATTAATGTTTCATAATTGAGGCCTAATATTTTTGTGAAACCTGAGATTAGTTTTCTTTGTAGGAATCAAAAACTCATATATTAATTTATAAATAATATCTAAATACTCTTTGTAAGCACCTTATTCTGTAACAATAAATGTTGACAACTGTTCTTGATTAATGTGTGGGCTGAGATTAATATGCTCTCTTCCTGTGCTGTGCTGCAGGTAGTGCTCTTATTAAATGCGGGGAGACGGAAAAGCTGTTAGGCAGTGCAGAGAAAGAGTTCATTCACAGCTCTGCCATCAACTTCCTCACTCCTTTTAGGAACTTCATTGAGGGAGATTTTAAAACCATATTGG[T/C]GAGCATGCATTTTAATTCATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTTTTAAACTGTTGTATTGATGTTTTTGTCTTCACAGAAAGAACGGAAACTGCTTCAGAATAAGCGTCTAGATTTGGATGCAGCTAAAAACAGAATGAAGAAGGCTAGAGTGGCTGATGCTCGCTCTGCAGTAAGTGTTTCACACACACACAAATGCATACACATACATGCAAAAGTCAGCTGTTTTACTTTACAGTAATATTTCCAGCTCAAGGTCAGACACTGCAGGCCAAAAGTGTTTTTTTGTTTTTTTCTTCTTCTTATTTTGGGCTTTTTGTCTTCTTTTTTGTTTGTTCTTTACAGTTAGATGGAAAGAAAGCATCTTTTAAGTGTTTCCTTAATTACCTCTTATCAATTTGGGTCTGTAGATTTTAATGACATATACCAGACTTTAGAAAAATATATTTTAATATGCATACAGTCATGCCCAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa31267

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:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000045933	Nonsense	248	360	7	9

The following transcripts of ENSDARG00000010956 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 2 (position 16012040)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	16522867
GRCz11	2	16191457

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGGCTGCGTATTACGCCCAGTGTTACCAGTATACAGTCAATCTGCAGAAA[C/T]AGCTGGGCAGGTTGGCACCCTCATATCTTTATGCATTTTGTTGTGATATC

Long Flanking Sequence:

AACATGCTACCTACTGCGCCACTGCGTTGCCTGAATTAGTCATTTAAATTAATCAGTCAGAATGGGCGTTTTTTATTTAGTTTAATAAATTATTCTTATGAGCCTGTTATGTTGCTAAATAAGTCGAAATGGTCATGAATAATTCTGTTAATAATTGTAATCAATAATTAATATGTGTCAATCAATAGTTAACACTTCAAACCCTCTTTTCAATAAAACCAGTCAATCAATGAACCGATCCAAAGACTGAATTGTTGTCTTGATTCATGACTCCTAATGAATCTTTTACCTTAATGAATTTGTCAGTTAGGATCCAAACACTTTAAATGCTATAGGAACGTAATATTTAGTTGTTTTCGTATGCATGTGGGAAGCACTGATGTATGTTTGATATGTTCTCCTCTGCTCAGGCCCATCACTTGCGGTGTCTGAATGATTTTGTGGACGCTCAGGCTGCGTATTACGCCCAGTGTTACCAGTATACAGTCAATCTGCAGAAA[C/T]AGCTGGGCAGGTTGGCACCCTCATATCTTTATGCATTTTGTTGTGATATCAATGTTTTTTCTGTACTCCAATTCCTCTGTTTTATACTAAATGCATCCGGAATCATCTGTTCTCTCAAACAGTCAAACTGCAATGTAAGCTTTTTTGTAATCTTCAAGAAGCAAACGTACATGGATGTATTCCCACAGTTAAGCCAGCAGTACTAACTCTTACTATATCTCCTCCAGTTTTCCATCCACGTTCTCTAACAACAATCAGCCGTCTGGCAGCTCGTCCGCCAGTGTGTGCGTACCCACAGCACCACCAGCTGCGTCTCTGCCCGCTCCTCCACCCAGCCAGGCTTCACCTGCTCTCAATGAGCTGCGCAGCTCCTCCGGCACCCGAAAGGCCCGTGTGCTGTATGACTATGACGCCGCCAGCAGCACGGAGCTCTCTCTACTGGCAGACGAGGTGCGCCTTCATCAGCCCACATTTCACATTTATGGCATACCTAACGGCAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa39795

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
ENSDART00000045933	Essential Splice Site	251	360	7	9

The following transcripts of ENSDARG00000010956 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 2 (position 16012051)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	16522878
GRCz11	2	16191468

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TACGCCCAGTGTTACCAGTATACAGTCAATCTGCAGAAACAGCTGGGCAG[G/A]TTGGCACCCTCATATCTTTATGCATTTTGTTGTGATATCAATGTTTTTTC

Long Flanking Sequence:

TACTGCGCCACTGCGTTGCCTGAATTAGTCATTTAAATTAATCAGTCAGAATGGGCGTTTTTTATTTAGTTTAATAAATTATTCTTATGAGCCTGTTATGTTGCTAAATAAGTCGAAATGGTCATGAATAATTCTGTTAATAATTGTAATCAATAATTAATATGTGTCAATCAATAGTTAACACTTCAAACCCTCTTTTCAATAAAACCAGTCAATCAATGAACCGATCCAAAGACTGAATTGTTGTCTTGATTCATGACTCCTAATGAATCTTTTACCTTAATGAATTTGTCAGTTAGGATCCAAACACTTTAAATGCTATAGGAACGTAATATTTAGTTGTTTTCGTATGCATGTGGGAAGCACTGATGTATGTTTGATATGTTCTCCTCTGCTCAGGCCCATCACTTGCGGTGTCTGAATGATTTTGTGGACGCTCAGGCTGCGTATTACGCCCAGTGTTACCAGTATACAGTCAATCTGCAGAAACAGCTGGGCAG[G/A]TTGGCACCCTCATATCTTTATGCATTTTGTTGTGATATCAATGTTTTTTCTGTACTCCAATTCCTCTGTTTTATACTAAATGCATCCGGAATCATCTGTTCTCTCAAACAGTCAAACTGCAATGTAAGCTTTTTTGTAATCTTCAAGAAGCAAACGTACATGGATGTATTCCCACAGTTAAGCCAGCAGTACTAACTCTTACTATATCTCCTCCAGTTTTCCATCCACGTTCTCTAACAACAATCAGCCGTCTGGCAGCTCGTCCGCCAGTGTGTGCGTACCCACAGCACCACCAGCTGCGTCTCTGCCCGCTCCTCCACCCAGCCAGGCTTCACCTGCTCTCAATGAGCTGCGCAGCTCCTCCGGCACCCGAAAGGCCCGTGTGCTGTATGACTATGACGCCGCCAGCAGCACGGAGCTCTCTCTACTGGCAGACGAGGTGCGCCTTCATCAGCCCACATTTCACATTTATGGCATACCTAACGGCACACGAGGCAATA

Associated Phenotype:

Not determined