ZMP

E2F1

Ensembl ID:

ENSDARG00000079349

Description:

E2F transcription factor 1 [Source:HGNC Symbol;Acc:3113]

Human Orthologue:

E2F1

Human Description:

E2F transcription factor 1 [Source:HGNC Symbol;Acc:3113]

Mouse Orthologue:

E2f1

Mouse Description:

E2F transcription factor 1 Gene [Source:MGI Symbol;Acc:MGI:101941]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa44434	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa30528	Nonsense	Mutation detected in F1 DNA	Not yet available
sa45025	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa44434

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 > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000109944	Essential Splice Site	189	433	3	7

Genomic Location (Zv9):

Chromosome Zv9_NA947 (position 15405)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	43586234
GRCz11	23	43478598

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GAGGGCATTCACTTAATCTCCAAGAAGTCCAAGAACAACATCCAGTGGCT[G/T]TGAGTCTTTCAGAACGTTACTGCTTTATATAAATGTGGAGTGTAGTTGTG

Long Flanking Sequence:

AAATGTAATTATAGTAGTTTTTTATATAAAAACTATTGATTTCCCCATCAATATAGCATCGCTGCAGAAATGGAAAAATAAATGAGCTTTAATGCTCTTGCCAAAATAGTAAACCCTGTCAAAGGTGTTAAAGTATTGAAAATCATCATTTAAATTGTAATCTGCCATTGGGATTTGTATATAGCAATATGCACATTTGTGATATATATAGATTTTTTGCACAGTTCTACTCAACAGTATTGATATAAACCCCTTTTCTCATGTTATCTGTGTGTTTTAGTGCCTAAGCTGGCTGTGGAGAAATCCCGCTACGACACGTCTCTGAATCTGACCACCAAACGCTTTCTGGATCTCCTGGCTCAGTCTCCGGACGGCGTGGTGGACCTGAACTGGGCCTCACAGGTGCTGGACGTCCAGAAGCGACGCATCTACGACATCACCAACGTCCTGGAGGGCATTCACTTAATCTCCAAGAAGTCCAAGAACAACATCCAGTGGCT[G/T]TGAGTCTTTCAGAACGTTACTGCTTTATATAAATGTGGAGTGTAGTTGTGTTTGTTTCTACACTACTATATACTAATTTTGTGATACTAATTTTCTTTATCCCTGTAAAATCACTTGTACATCACTACTGACAGCCTTTGCTCAACACTTTATTGATGGACCTTTGGCAGCGATTACAGCCTCAAGTCTTTTTAAATATGATGCCACAAGCTTGGCTCACCTGTCTTTGGGAATTTTTGCCCATTCCTCTTTGCAGTACCTCTCAAGCTCTATCAGGTTGGATGGGAAGCGACGGTGTACAGCCATTTTCAGATCTCTCCAGAGATGTTCAATAGGATTTAGGTCTGGGCTCTGGCTGGGCCACTCAAGGACATTCACCGAGTTGTTGTGAAGCCGCTCCATTGATATTTTGGCAATGTGCTTGGGGTCATTGTTCTGCTGGAAAAAACAGTCTGAGCTCAAGAGCGCTCTGAAGCAGGTCTTCATTCAGGATGTCTCTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa30528

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
ENSDART00000109944	Nonsense	241	433	4	7

Genomic Location (Zv9):

Chromosome Zv9_NA947 (position 12956)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	43583785
GRCz11	23	43476149

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGCAGTTTACAGCTACGGCTCCTCACTGAGGACACACACAACAAGAAATA[T/G]CCTTTACCTGCACAGTGTTAGTGGCGTCACGATCGCCTCACAACAAGAAG

Long Flanking Sequence:

CAATCTTGAGTCACAGTCATAGCGCCACCTGCTGACAGGAAGAAGTTTGGCATAAATCTGTGATTTTTTTTTTTTTTTTTTTCCCCAGGTTTTATATATATATATATATATATATCAGCTTAAATTATTATTGTTCGCTGTTCTCTGTTATACTAAGGCCACCGGGCGGCGGTGAGCTCGGGTGCGAGGTCCCTTTCATTGCTGCTTGCAGCTTTAATTTAAATTGTTCTTGAATTTTTTTTGTAGATTTAGAGTATGTTTTAGTTTTGATGAATCAAGATTAGTTTATGAAAATGTCTCCGCATATACTCTGTGATTGTTTATGGTTTTGTGTGGTTTTGCAGAGGGAATCGTATCGACGGCGCATCTCTGGCCAGGTTTCAGGAGCTGCAGAAGGAGGTTTCTGAGCTGACGGAGGCCGAGGAGAAACTGGACGAACTCATTAATAAATGCAGTTTACAGCTACGGCTCCTCACTGAGGACACACACAACAAGAAATA[T/G]CCTTTACCTGCACAGTGTTAGTGGCGTCACGATCGCCTCACAACAAGAAGGTCGCTGGTTCGAACCCCGAGGGATTCAGTTGGCATTTCTGTGTGGAGTTTGCCTGTTCTCACAGTGTTGGCGTGTGTTTCCTCCGGGTGCTCCTGTTTCCCCGACAGTCCAAAGACATGAGCTATAGGGGAATTGAATAAGCTAAATCAGCTGTAGTATATGTGTGTGAAAGAGAGTGTATGGGTGTTTTCCAGGGTTGGGTTGCGGCTGGAAAGGCATCCGCTGTGTAAAACACATACTGGAAAAGTTGGCAGTTCATTCCGCTGTTGCGACCCCTGATTAATAAAAGGACTAAGTCTAATAGAAAATGAATGAATGCACAGTATTAATCGACAGGCTGCTCATTTCAGCTCTTCTGCATGCTCTAAATCGGTGGTTCTCCAAGGTGTGTGTGATTAATTTACAGTAATCATTCATTTAATTTCTCATGCACTCTTTGGTAACACTTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa45025

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 > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000109944	Nonsense	423	433	7	7

Genomic Location (Zv9):

Chromosome Zv9_NA947 (position 4639)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	43575468
GRCz11	23	43467832

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TATCACTTCGGCCTGGAGGATCATGAGGGCGTCAGTGAGCTGTTCGACTG[C/A]GACTTCAGTGACCTCGTCCCTCTGGAGTTCTGATGGACGCATCCGAGTGC

Long Flanking Sequence:

CGTCACTTTGGCTCAAAAATAACGTTTGTCTTATTGACTGTATTTGAGTACGTGCATTTTAGATTTTTATAGCATTTACACGAACATTTATATTATCTAATTCATTTTTAAGTATAATTTAAATTGTAAATGAACACATTAAAAGTAGTTTAATATTAAATATTATAAATCTTAATTATGAAAGTTATTTATAATTGTAAAGTTCATTATCTTATTTTTTCTGCATAAGATTTTGGTTTATTTTGTTAAAACAAATTAATCATATTAATTTTGTTCTCTTTTTCAGAATCGTTTCTGGACTCTGACCCGTTTTCTGGCATATGTGCGATGCCAGATTTCGATTTGTCTCCTTTGGACTCTGATTTCCTTCTGGAGCGGAGCGGGGCAGCAGACGGGCTCGGCCTCCCACTGGACAGCTTTATCTGCCTGTCTCCGCCGCACAGCCAGGACTATCACTTCGGCCTGGAGGATCATGAGGGCGTCAGTGAGCTGTTCGACTG[C/A]GACTTCAGTGACCTCGTCCCTCTGGAGTTCTGATGGACGCATCCGAGTGCTTCATTCCAAGTGTGAATGCATAACTGACTCACTTTGCTTCACTTTTGAATCCAGATTTGCTCAGATGGCTTTGAACAGTGCCGATTCACTTTGCTTCATTTTTAAATCCAGAATTGCTTTGAACATCGCAGAATCACTTCGTTTTACATTTGGATCCTGAATTGCACAGGTAATTGAAATGACAGCGAGTCAATTCGCTTCACTTTCGGATCCTAATTAGCTCAGATGGACATTAGCATCTCAGATTCAATTCACTTTACATTTGGTGCCTAATTCCCTCAGATGGACATAACCATCTCAGATTCACTTCACATTTAAACCTGAATTTAAACAGCGTGATTCAGTTCGCTTCACTTTTGAATCCTTTTAGCTCAGGTGAATTTTAACATTGCAGATTCGCTTCACTTTTGGATCCTGATTTGCACAGACTGATTTAAATAACGCAAATT

Associated Phenotype:

Not determined