Busch Lab

ZMP

NFXL1

Ensembl ID:
ENSDARG00000070127
Description:
nuclear transcription factor, X-box binding-like 1 [Source:HGNC Symbol;Acc:18726]
Human Orthologue:
NFXL1
Human Description:
nuclear transcription factor, X-box binding-like 1 [Source:HGNC Symbol;Acc:18726]
Mouse Orthologue:
Nfxl1
Mouse Description:
nuclear transcription factor, X-box binding-like 1 Gene [Source:MGI Symbol;Acc:MGI:1923646]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa37790 Nonsense Mutation detected in F1 DNA Not yet available
sa39428 Nonsense Mutation detected in F1 DNA Not yet available
sa37791 Nonsense Mutation detected in F1 DNA Not yet available
sa30003 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa37790
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
ENSDART00000102658 Nonsense 252 822 6 20
Genomic Location (Zv9):
Chromosome 23 (position 44065079)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 44095246
GRCz11 23 43896764
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGTGTGTTTCAGGCCCGTGTCCCCCCTGCCCACAGATGGTGAGTGTGT[C/A]GTGTCTGTGTGGGAAATCGTCTCGTGTTCCTCGCCGCTGCAGTGCTAAAG
Long Flanking Sequence:
GTGAGTCCTAATGCCCCAGTAAAAGTGAAGGGGACACTACACTGTCAGTGGGCGCCGTCTTTCGGATGAGACGTTAAACCGAGGTCGTGACTCTCTGTGGTCATTAAAAATCCCATGGCACTTCTCGTGAAAGAGCAGGGGTGTAACCCCGGTGTCCTGGCCAAAGTCCCTCTATCGGCCCTTATGATCATGGCCTCCCAATCATCCCCTTCCACCGAATTGGCTCTATCACCGTCTCTCCACTCCACCAATAGCTGGTGTGTGGTGAGCGCACTGGCGCCGTTGTCCTGTGGCTGCCGTCGCATCATCCAAGTGGATGCTGCACACTGGTGGTGGTGTGGAGAGACCCCCCCTCATGATTGTGAAGCGCTTTGGGTGTATGGCATTTGGGTGTACATTAAATGCGTTATATAAATACACATTACACTATTGGTAATTGTTATGTATGTCTGTGTGTGTTTCAGGCCCGTGTCCCCCCTGCCCACAGATGGTGAGTGTGT[C/A]GTGTCTGTGTGGGAAATCGTCTCGTGTTCCTCGCCGCTGCAGTGCTAAAGCCTGGAGCTGCACCAAGATCTGTGGACGGAAACTGCCGTGCCGAACACACACCTGTGCAAACACCTGTCATGCAGGTAACACACACACATTTAAAAAAAAACTACTTTTTTACTTTTATTTAAGATGCTGATGACCGTTAAATCGATTATTGTGTGTGTGTGTGTCAGGCGAGTGTGCGGCATGCCCGAGGGTCAGTCTGCAGGCGTGTGCGTGTGGCCGACAGCGAGCAGAGAGACCCTGCGCCAGTCCAGAGTGGCACTGTGACCAGGTGACCTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGTGAGAGAGAGAGTGATTGAGTGGTCAGAGTGTGTGTGTGTTTGTGTGTTTGTTTTTTATCTTGTGTGTATGTGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39428
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
ENSDART00000102658 Nonsense 313 822 7 20
Genomic Location (Zv9):
Chromosome 23 (position 44065354)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 44095521
GRCz11 23 43897039
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGCGGCATGCCCGAGGGTCAGTCTGCAGGCGTGTGCGTGTGGCCGACAG[C/T]GAGCAGAGAGACCCTGCGCCAGTCCAGAGTGGCACTGTGACCAGGTGACC
Long Flanking Sequence:
GGCGCCGTTGTCCTGTGGCTGCCGTCGCATCATCCAAGTGGATGCTGCACACTGGTGGTGGTGTGGAGAGACCCCCCCTCATGATTGTGAAGCGCTTTGGGTGTATGGCATTTGGGTGTACATTAAATGCGTTATATAAATACACATTACACTATTGGTAATTGTTATGTATGTCTGTGTGTGTTTCAGGCCCGTGTCCCCCCTGCCCACAGATGGTGAGTGTGTCGTGTCTGTGTGGGAAATCGTCTCGTGTTCCTCGCCGCTGCAGTGCTAAAGCCTGGAGCTGCACCAAGATCTGTGGACGGAAACTGCCGTGCCGAACACACACCTGTGCAAACACCTGTCATGCAGGTAACACACACACATTTAAAAAAAAACTACTTTTTTACTTTTATTTAAGATGCTGATGACCGTTAAATCGATTATTGTGTGTGTGTGTGTCAGGCGAGTGTGCGGCATGCCCGAGGGTCAGTCTGCAGGCGTGTGCGTGTGGCCGACAG[C/T]GAGCAGAGAGACCCTGCGCCAGTCCAGAGTGGCACTGTGACCAGGTGACCTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGTGAGAGAGAGAGTGATTGAGTGGTCAGAGTGTGTGTGTGTTTGTGTGTTTGTTTTTTATCTTGTGTGTATGTGTGATGTGTTTGGGTGCGTTTAGTGTGTGTGTGTGTGTGTGCGCACAGTCTGTTTCTAAGTGTGTGTAATGTGTGTTCAGATTCATGTTTAAGATGTTTGTGCATATTGTGCATATTGTGTATCTGCATGTGTGTATGTGCACAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGTGAATGAGTGGTCAGAGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37791
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
ENSDART00000102658 Nonsense 720 822 18 20
Genomic Location (Zv9):
Chromosome 23 (position 44092967)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 44123058
GRCz11 23 43924576
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTGTGTGTGTGTGTGTGTGTTTGCAGGAAGTTTACATCTGCTGATGAA[C/T]AAGACAAACAGCTGCTGATGTCCTGCCAGAATCAGTGTCCAAAACAGGTG
Long Flanking Sequence:
TATATATATGTATGTGTATATATATATATATATATATATATGTATGTGTATATATATATATATATATATATATATATATATATATATATATATGTGTGTGTGTATGTATATATATATATATATATATTTATATATGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTATGTATATATATATATATATATATTTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATATATAATGCTAAAGAAGGAAACTCACTAAGGAACCTCGCTGTCATTTAAAGATTAAAGCTCATTGGAAAAAATGGTCATCTGCACAACACGTCTCTTCATCAGCCAGTCTTCACACACAAACAAATATAAGCCTATTATTTCTTGTTAAGAACACTGATGTGTGTGTGTGTGTGTGTGTGTGTGTTTGCAGGAAGTTTACATCTGCTGATGAA[C/T]AAGACAAACAGCTGCTGATGTCCTGCCAGAATCAGTGTCCAAAACAGGTGCTCGATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACGTGTTTTTGTGACATATCAGGACACAAATATGTATAATGACATGGGTATGACACAGGTATTACAAAAAGAAGGTGAAATATGAAAAAATCGGTGACGTCCTCATTTCTCAAAATGCTTATAAATCCTAGAGAATGAGTTTAATCAGAGAGTAAAGCTGGACACAGTCTCCTGTGATGGTTGGGTTTAGGGGTGGGGTGAGGGCAATATAATATGCGGTTTGGACCGTATAAAATGAATGGAAACCTATGTAATGTCCCAACTTTTCACAAAAACAAACGTGTTTAGATGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTCTGTGTCATACCTGCCAACATTTGTCCCTGAAAATCCGGGAGACCAGGGGCGGTAGGTGTTCAGGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30003
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
ENSDART00000102658 Essential Splice Site 770 822 19 20
Genomic Location (Zv9):
Chromosome 23 (position 44094203)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 44124294
GRCz11 23 43925812
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGCGGTCAGAAGGTGAAGATCAGGTGTCCCTGCAAGAGGATCAAAAAGG[T/C]AAAAAACACACAGAATGTCACATGACACTGTCCATCACACACTCAAGCAC
Long Flanking Sequence:
CGTCGTCTTGATGAACAGACACAAAGCCAAGAAGAACAAAATCTGCTGTGCCCTGTTTGTGTTTTATGAGTCCGTCTAAAAGTGCGAGCGGTTTCACTTTGTCCAGAGAGCTCGCGATCACTTCTACATTCAAAATAACAAACTTCTTGAGCTCATATTAATAAAGTGCTCGTGATCATTGTAGCGCTCTGAAATCTTGTTAAAACTGTTATGATTAGAAATGTGCTGAAAAAAAATCCTAACACAGAAATTGGGGGGAAAATATATAAAATAATTAGAATTTAACAGGCGAGAGAATGATTCTGACTTCAGATGTGTGTGATACTCATTGCTAAAACTCAGGGGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCTGCTGTGTGGCCATCGCTGTAAGCTTCTGTGTCACGCCGGTGATTGTGACCAGAACTGCGGTCAGAAGGTGAAGATCAGGTGTCCCTGCAAGAGGATCAAAAAGG[T/C]AAAAAACACACAGAATGTCACATGACACTGTCCATCACACACTCAAGCACTGGGATGATTGTTCCTGTTTACACCCAGTATTAAAGTCTGCATGAGCCAGAAGCTGCAACCGTTTTCTTTTTGTCATTTTGTGACGCAGTTCCCAGAGAAACGGAATATTAAATAATAAAGCAGTGGGCGTGGCTTGTTTTTATATACTGCAAGCTGATTGGTTGTAGTAAAGTAGGCGTTCATTGTGAAAGATGGGGAGAAGGGTTTGAGGAGAGTTATTACAAACTAACAGACTCCGCCTCCTCACCATTTCTGCTTGCTGTCAAAACTGACAGCTGGAGGGGTTAAGTGTGTTAGCCACGCCCAATACCACACACACACACATACACTCACTAACAAGCACAAGCACATAAACAGACACAAAAAATAAACACACACACACACACTCTTCACAGCCGTTGTATGATTCAAAACTTTTACTTCAGTCTTTACCTCATATAACACTGAGA
Associated Phenotype:
Not determined