Busch Lab

ZMP

LOC568741

Ensembl ID:
ENSDARG00000079672
Human Orthologues:
AC103965.1, EFTUD1
Human Descriptions:
Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:A6NKW7]
elongation factor Tu GTP binding domain containing 1 [Source:HGNC Symbol;Acc:25789]
Mouse Orthologue:
Eftud1
Mouse Description:
elongation factor Tu GTP binding domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2141969]

Alleles

There are 7 alleles of this gene:

Allele Name Consequence Status Availability
sa30883 Nonsense Mutation detected in F1 DNA Not yet available
sa34011 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa20868 Essential Splice Site Available for shipment Available now
sa12887 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa30883
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113905 Nonsense 82 1133 4 21
Genomic Location (Zv9):
Chromosome 7 (position 13183370)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 12111484
GRCz11 7 12364445
GRCz11 KZ115966.1 7890
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTGTCATTGCTCCTGTAGCTGAGATATCTGGACAGCAGGGAGGATGAG[C/T]AGATCAGAGGAATCACCATGAAGTCCAGCGCTATTTCATTACATTTCGCA
Long Flanking Sequence:
ATTATTATTATTATTATTTCTTAAAAAAACATAAAAATATTCAAGTAAATAATAAATATTTTTTTCAGTACTGGGTTGCGACTGGAAGGGCATCCACTTTGTAAAACATATGCTGAAATAGTTGTAGGTTCATTGCACCATTGTGACCCCTGACAAATAAGGAACTAAGCCGAATGAAAATTACTGAATGAATCATAAAAAATACATTTAAAAGTTGAACTAATTATGAATTATAATTAAAATAAATGATTGATAGACAGACAGACAGACATTTACATGACTTTTTTTATGTCAACCGCTGTCCTTCCAAAATTCAAAATTGTAACTATCCATAAAATAATATTTTGAAAATAGTATTACAGTACACTCATACACACACACCCCTGTTGGTTTGGAGTTGAAATAAGACTCATACAATTGAAGCTCACCATCTTGTCTGTCACTGCTGCTTTCTGTCATTGCTCCTGTAGCTGAGATATCTGGACAGCAGGGAGGATGAG[C/T]AGATCAGAGGAATCACCATGAAGTCCAGCGCTATTTCATTACATTTCGCAACAGGTGATGGCCATCGTGGTCTGTATTGTTTTTACTGATTCGACACGATGTACTGCTCTGGCTTATGTTTGCCGTTGTCATTGCAGGAGGAGTGGAGTTCCTCATTAATCTGATCGACTCTCCCGGTCATGTGGACTTCTCCTCTGAGGTGTCCACCGCTGTCAGATTATGTGACGGGGCCATTGTTGTGGTCGATGCTGTGGAGGGAGTGTGTCCGCAGGTATCATCCAACATCGAGAGTCTTTTCACTTGTTTTTCGTAGATTAGACACACAAAGTGCATAGAAATTAAATGCTTTAAAAGTTACACTGTAATTCGCCCAGCCTCATGCTTTTTTTGACTTGTATGTAATAGCATACGTTTGACCATCCATAACAAATAGAGAAAAAAAGGGCGAAATAATATATACAGTTGAAGTCATAATTATTAGCCCCTGTATAGTTTAATAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34011
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113905 Essential Splice Site 418 1133 11 21
Genomic Location (Zv9):
Chromosome 7 (position 13162380)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 12090494
GRCz11 7 12343455
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCGCGCAGGTTCGACTCTCTGCCCGACAAGACGCAGGAGCTAAAAAAAGG[T/G]GAGTGTGTGTTCACGGCTACAGCAGAGGATGTGATTCACACAGCGTTTCC
Long Flanking Sequence:
ATATACAGTATATAATATACAAATGTACATATATATATATATATATATATAAATACAGTATATATAATATTAATTATATTTTTCATATTTGAAACAGTTTTTTTTAAATTATTATTAAAATAACTTTAATAAATAAATAAAAAAACATCCTTTAAAACAAATTAAATATTAAACAAAAATACTGTTAAAAAGCATGCCTCTGATAAATAAGATGAAAAAATCTAACTCGTGCAATTTTCTATGGACACGCTGAGACTGTCAAGCAACGCTTTCTTTTCGTCAGCTCTTTTAACTGACCATTTATTAATAAAACATTTGGGTTTTTATTTAGTGCAGTGGCAGGCGAGTGTGTGTTTTCTTTGACTGTGTTACTCAGCGATGGTGTGTGAAAAGCTGCCCAGCCCAGCTGAGATCTCGGCTGAGCGAGTGGAAAAGCTGATGAGCGTGGGAGCGCGCAGGTTCGACTCTCTGCCCGACAAGACGCAGGAGCTAAAAAAAGG[T/G]GAGTGTGTGTTCACGGCTACAGCAGAGGATGTGATTCACACAGCGTTTCCTCCAGACTCCATCTGTGAATACAGCGCTTTGAAAACTACCATGCGCATGTGCTCTTTTATATCGTTTCTAGCACTTTCTGCCCACTGGAAGCACCCTGGGTCTGCAGCACCTGCTTTATGAACTGTGTTTGGATCGAATTGGGACTTATTTTAAGCTGTACGATGGTGGCATTTTGTTATGTATCCACTTTTTGAGGCTTTCTAAAAAAGTCTCAATTTAATCTTGCACAAATCAAGGTGTTAAGACCTATTAGACTGATCAAAAGTGATTATTCTCTAAAATAATTTATTAATAATTAAAAGTGACTGTTGTTTTCAAATATGCAAACATCCCAAATCTACACAACCTGACAAAAGTCTTGTCAACGATTCCAGTTGTAAGAGCAACAAATAATAACTTGACTTCTAGTTGATCACTTGGAAGTGGCAGTAGGTCGATTTTTCTGATGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20868
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113905 Essential Splice Site 502 1133 13 21
Genomic Location (Zv9):
Chromosome 7 (position 13129014)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 12057128
GRCz11 7 12310089
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATGCAGGAGGAGATTCAATCCCAGCCCCAGCCGCAGCAGGTGTCACAGG[C/A]AAGAATAAGACCTTTTTAATGATCAGTGTGTGAAATTGAGTGAGGAAAAT
Long Flanking Sequence:
AACATATGCTGGATAAGTTGGTGGTTCATTCCGTTGTGGCGACCCCAGATTAATAAAGGGACTAAGCTGGAAGAAAATGAAAGAATGAATGAATTAAGAAAATATTTTACATTTATTTATTTTTAAAATTTTTCTAAATATTTATTTTCTTTTTTTTTTATTTGTTTTATTGTTATTTTTTTCCTTTTTTTTTTTTTTTTAACTCCGGCAGATAAATGTGAGGGATTGCCCTGCCAATATTTCTTCATGTTATGGAAAATTAAATTGAGTGTGGTTATTTTAAAGGTATCGCTGGAAGGTATAAATTTGTGACGCTGTTAATAGTTTGTGTTGTGTTGTTTATTCAGACCGCTGACTCATGAGGAAATCTCCCAGAGAAGAGAACTGGCCCGACAGCGGCACGCAGAGAAACAAGCAGCCAATCAGAGTGCAGAGAGCCTCGCGTCTGGTGATGCAGGAGGAGATTCAATCCCAGCCCCAGCCGCAGCAGGTGTCACAGG[C/A]AAGAATAAGACCTTTTTAATGATCAGTGTGTGAAATTGAGTGAGGAAAATCGCTGTGGTTGAGTTTATGTTTTTAACTAATGCCTAGTTCAGACTGTGTGATTTTAGCCCTGATTTTGGCTCGCCGACAGGTTTTGAGAAATCGCAGACAAATGCCTGAAATCACAGGCAAATCGCTGCTCGTGCACGTGAGTGACAATCACACAGTATGAACTTTCAAAGACGCGATCGTAGAGAATCGCCGATGCCTGCGAGATATTTGGCGTGCTAAATATCTGGAGCTGTTGGCGATTCAAATCATACCGTGTGAATTGAGTTTTGACTGTAAATAACATCAGCGATCGTCTACAGCCAATGAGAGAGCAGCTTTCACTTGTGTGTGCGTGTGTGTATACCTGCTGCAGGCCAGCGGGAGGCTTGGGAAGAAGTTAAAAGCGCTCTTTTTCGGTTTATTTGGACCCACGAAATGGAGGAAAAACTAGTGGAGGTTTGACAGGACTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12887
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113905 Essential Splice Site 1010 1133 19 21
Genomic Location (Zv9):
Chromosome 7 (position 12999897)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 11928011
GRCz11 7 12180972
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AYGGCTGCGATGTACACCTGCGAGATCATGGCCACGGCTGAGGTCCTGGG[T/A]AAGCTGASTTTATTCACRTTTCTTTGATTAAAAGACYGCMTTGGATTTAA
Long Flanking Sequence:
TTTGGTCCTCGCCGCTGTGGCCCAAATATCCTCCTCAACAGCATCGAGGGCTACAGAAGACCCTCTGTATGGCAGTGTCTGGAAACCGAGAAAACTGAGTCCAGCGCGCTTCGAGACTTCGACAACAGCATTGCCAGTGGCTTCCAGTTAGCGACACTCGCCGGCCCCATGTGTGAAGAGCCTTTGATGGGTGTGTGCTTCTCTGTGGAGTCCTGGGACATGAAGATTTCCACACCTGTAGCTCAGCAAGACTCCGTAGATGAAGGTTCCCAGCCTGCAGAGCTTAATAATGAGCATTCGGAAGTCTCTCCTGTGAGCTCTAGCCGAAGCCGGAGCAAAGCAGAGGCTGCTGGGAGTTCGGTTGACTGTTACGGGCCATTTTCAGGTCAGCTGATCGCCGCTGTGAAGGAGGCCTGCAGATACGCTTTCCAAGCCAAACCTCAGCGACTCATGGCTGCGATGTACACCTGCGAGATCATGGCCACGGCTGAGGTCCTGGG[T/A]AAGCTGAGTTTATTCACGTTTCTTTGATTAAAAGACTGCCTTGGATTTAAAAGTCTGAGTGTGCTAGTTTAGGCTCAGTTCAACAAGACAGTTCAGATGTTTTTTTTTATAATGTGTTAAAAAGTGTCATGTTGGGGGCGTGTACACAGCTCGCTGTTTTAGGGGCGTGTTGCTTCACATAAAAATTAGTTTCGGCTTCCCGCCCAACGAAACAAGGGGGCGGAGCCAAGAGCTCCCACACTCTCTGTTTGCAACAGACAGGCTGACAGAGAGATCAGCATTCAGCCGAACATGTACGACTCGGACACAGACCAAGCAGAGAGTACAAAATCAAAGACAAAATGTGTCTTTGTATAGTCTCGGTGTACAATTGCCGAGCTTGTACACCGAGACTAATAACCACACACACTAAATTAACTTTGACTGAGGCACTGAATGAACCGTGACACGGCACACCTGACACTCTCAGTGGCGCGGTTGAAACATGAAGTGTCCCGAAT
Associated Phenotype:
Not determined