ZMP

ENG

Ensembl ID:

ENSDARG00000088795

Description:

endoglin [Source:HGNC Symbol;Acc:3349]

Human Orthologue:

ENG

Human Description:

endoglin [Source:HGNC Symbol;Acc:3349]

Mouse Orthologues:

Eng, Gm14378

Mouse Descriptions:

endoglin Gene [Source:MGI Symbol;Acc:MGI:95392]
predicted gene 14378 Gene [Source:MGI Symbol;Acc:MGI:3833469]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa25986	Nonsense	Mutation detected in F1 DNA	Not yet available
sa19936	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa38368	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa25986

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
ENSDART00000125008	Nonsense	139	861	4	18

Genomic Location (Zv9):

Chromosome 3 (position 6305608)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	5833894
GRCz11	3	5743815

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGTTGTTCATTGTGTGTTCCAGTTGTCTGTGAACTCCACGGCAGAGTCTT[C/A]GAGTCTGTCTGTCCGCGTAACGCAGGTCCCATCTCTGCCGCGGCGGCCTC

Long Flanking Sequence:

GTGCTCAGCTCTCAGCAGGCCGTGCGTTGGGTTTTGGAAAATGAGGGACTGTCAAGCAACATCAATGTGCTGGTGCAGGTGTGTGTGATGTTACAGATGTTTTTTAGCTCTTTCCAGTGTGCAGGTGATCATTGTGTGACATTATTTTTGAAAACAAGACTATTTTTCTACGTGTCTAGAATTTTTAGATAGACTATAAATAAGACATAAGACATAAGTAAAAAAAAACTCTACAGACATATTTGTGATGAGACTTTTTTTCATGTATAATATTTATTTTACAGGTTACCCAAATTTTACTTACAGATTTTAGATCAATATACTTACCTAAAAGGAATGTCAGGAGAACATTGTGTTTGTTGGATACTTAGATGTTTAACAAGCAATTGCAGTGGCCACGTTTTCACTTTTTCATAAAATTGAGGGATTTCTGAGAAAAACATTTATTTCAGTTGTTCATTGTGTGTTCCAGTTGTCTGTGAACTCCACGGCAGAGTCTT[C/A]GAGTCTGTCTGTCCGCGTAACGCAGGTCCCATCTCTGCCGCGGCGGCCTCGAGTGCTGCTGCGCTGGGTTCTGCAGCGCCACGCCACCGTCACCTCCCTCACACACACCACACACTCCAACCGGATTTACTTGCGCCTGGGAGAGGGTGAGACACACACACTCACACATGCATACACAAACCTGAAGAACAGCTTTTCTGATCACACTCATTCTAATGTCACTACTGATTCATTTCAAATCAGTTTCTAATGTCAGTCCTGATTCACTCCTGATCACACTCATTCTAATGTCACTCCTGATTAATTTCGGATCACACTCATGCTAATATCGCTCTTGATTCATTTCTGATTGCACTGTTTTTAATGTCACTCCTGATTTACTCCTGATCACACTCATCCTAACATCACTCCTGATTCACACCGGATCACACTCATCCTAATCTCACTCCTGATTCATTTCTGATCACACTTATCTTGATGTCACTCCTAATTCATTACTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa19936

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
ENSDART00000125008	Essential Splice Site	398	861	8	18

Genomic Location (Zv9):

Chromosome 3 (position 6297289)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	5825575
GRCz11	3	5735496

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GTGTGAAGGCGGAGCTCTGACTGTTACCGTGGATATGCAGATGCTAAAGG[T/C]AGCAGACACACACACTGTATGATCCAGTGAACTAAAAATAAATGTTACAC

Long Flanking Sequence:

TTTCTCGAAACATTTCAATTTTATTCTCATAACATTTCGACTTTATTCTTGTAACATTTCAACTTTATTTTTTTAACATTTCGACTTTATTCTTTTAACATTTCGACATTTTTCTCTTAACATTTCAACTATTTTCTCATAACATTACAACATTATTCTCGTAACATTTCAACTTTTTTCCCGTAACATTTTGACTGTTCTTTTAACATTTCAACTTTTTCAGTTTTATTCTCATAACATTTCGACTTTTTTGTTCTCTTTACTCTCGTTACATTTAAAATTTTCTCAAAACATTTGACCTTATATTCTTAACATAGAAAAGAGTGTGTTGTTCACTAGTGTGTGTCTATAACGATGTGTTTTGTGATCTTCAGACTCTGATGATGCGTCTTCAGTCTGGCATCATCACGATGACATCACGATTGACAGTGCTGATGCGCTCAGCTATCAGTGTGAAGGCGGAGCTCTGACTGTTACCGTGGATATGCAGATGCTAAAGG[T/C]AGCAGACACACACACTGTATGATCCAGTGAACTAAAAATAAATGTTACACAAATATAAGTGTTGTAAGAAAAATGTGCAAGTGGGACGTGAAGGAAGAACAAGGAAGGGAACTGGCAAAAATCATAATAAAATAAATAATAATAATGCATATAATTATAATATCTGACCTATAATAATAATGCCAAACTGTTTGACCTGTCTGCAGACACAGGTTTGGCCAGTGACGGCGGTGACCCTGCAAGATCCAGAGTGTAAAGCTGAATTTAACGGAAGTCATTTCCTGTTGGTTTCCCCCATCATTTCCTGTGGTACCGAGGGAGAAATGGATGAAGCCAGTGGAAGGGTTCATTACACAAACACAGTGAGAGTAAAACATGATTAAACACATGCTGTATCTGCTAAAGCATCACACTTGTTTCTCAAGACGATTTGTGTTGCTTGTGTGATTTAAAAAATAGTGGCTCAGGTTTTGCTCTAAAATAAAATGTATTTATATACA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa38368

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000125008	Nonsense	413	861	9	18

Genomic Location (Zv9):

Chromosome 3 (position 6297040)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	5825326
GRCz11	3	5735247

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GTCTGCAGACACAGGTTTGGCCAGTGACGGCGGTGACCCTGCAAGATCCA[G/T]AGTGTAAAGCTGAATTTAACGGAAGTCATTTCCTGTTGGTTTCCCCCATC

Long Flanking Sequence:

TTTGTTCTCTTTACTCTCGTTACATTTAAAATTTTCTCAAAACATTTGACCTTATATTCTTAACATAGAAAAGAGTGTGTTGTTCACTAGTGTGTGTCTATAACGATGTGTTTTGTGATCTTCAGACTCTGATGATGCGTCTTCAGTCTGGCATCATCACGATGACATCACGATTGACAGTGCTGATGCGCTCAGCTATCAGTGTGAAGGCGGAGCTCTGACTGTTACCGTGGATATGCAGATGCTAAAGGTAGCAGACACACACACTGTATGATCCAGTGAACTAAAAATAAATGTTACACAAATATAAGTGTTGTAAGAAAAATGTGCAAGTGGGACGTGAAGGAAGAACAAGGAAGGGAACTGGCAAAAATCATAATAAAATAAATAATAATAATGCATATAATTATAATATCTGACCTATAATAATAATGCCAAACTGTTTGACCTGTCTGCAGACACAGGTTTGGCCAGTGACGGCGGTGACCCTGCAAGATCCA[G/T]AGTGTAAAGCTGAATTTAACGGAAGTCATTTCCTGTTGGTTTCCCCCATCATTTCCTGTGGTACCGAGGGAGAAATGGATGAAGCCAGTGGAAGGGTTCATTACACAAACACAGTGAGAGTAAAACATGATTAAACACATGCTGTATCTGCTAAAGCATCACACTTGTTTCTCAAGACGATTTGTGTTGCTTGTGTGATTTAAAAAATAGTGGCTCAGGTTTTGCTCTAAAATAAAATGTATTTATATACAGTATTTATACATGTAATAGAGTTCGTTGTTTGGGAAGAAGGAGGCGGAGAACCGACGCAGTTTTTAAACTATTTATTATTACAGTTTTTTACAATGGCTATGACACTTTTTTCAATAAATTTAACAAGTTTGCTAAACTCTTAACGCAGCAACACACCTAAAACACACAATTGGCAAAACAGTTAATTTTATGCTCAAAATCACACATTATAAACTAAACCTCTAAACTACTTTTCAAAATACAATAAT

Associated Phenotype:

Not determined