ZMP
mlh1
Ensembl ID:
ZFIN ID:
Description:
DNA mismatch repair protein Mlh1 [Source:RefSeq peptide;Acc:NP_956953]
Human Orthologue:
MLH1
Human Description:
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) [Source:HGNC Symbol;Acc:7127]
Mouse Orthologue:
Mlh1
Mouse Description:
mutL homolog 1 (E. coli) Gene [Source:MGI Symbol;Acc:MGI:101938]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa14372 | Essential Splice Site | Available for shipment | Available now |
| hu1919 | Splice Site, Nonsense | Available for shipment | Available now |
| sa31959 | Nonsense | Available for shipment | Available now |
| sa31960 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14372
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000038360 | Essential Splice Site | 179 | 724 | 7 | 20 |
| ENSDART00000133388 | Essential Splice Site | 180 | 725 | 7 | 20 |
| ENSDART00000147996 | Essential Splice Site | 180 | 215 | 6 | 8 |
Genomic Location (Zv9):
Chromosome 13 (position 43258687)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 42479646 |
| GRCz11 | 13 | 42605706 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTAAAGAGCCCCAGTGAGGAATATTCCAGAATCGTCGAGGTTGTGAGCAG[G/A]TGTGTTTCACSACATTCAGAAGGCTCTTCTTTTATCTTTAGRTCCTGAAT
Long Flanking Sequence:
CACATCAAAGTTCCTGAAAGCAACAAAGGTCAAGGTGCTCCAGGATTGGCCATCCCAGTCACCAGACTCAAACATTATTGAGCATGTCTGGCTTAAAAACGAGGAGGCAGATGAATTGAAGATGAATCCAAAGAATCTTAATGAACTCTGGGAACACTTTCTTTGCCATTACAATTTTGCCATAGAATATTAATTCATAAATTATATATTATTTTCTTTTGTAAAGTGCAAATTTTGACTGCTTTTTGTTGACAGGGCCAATTACTGTGATGGGAAACTAAAATCTCCACCCAAACCCTGTGCTGGAAACCAGGGGACACTGATTTCTGTAGGTTTACCTGACATTAAGACATTTTTATAACAATATAAATCCTCTATTCATCGTTTTCCTTAATGTTTTCCCCTCAGGTAGAGGATCTGTTTTATAATGTGTCTACGCGACGGAAAGCCCTAAAGAGCCCCAGTGAGGAATATTCCAGAATCGTCGAGGTTGTGAGCAG[G/A]TGTGTTTCACGACATTCAGAAGGCTCTTCTTTTATCTTTAGATCCTGAATGATTGTCCATGTCAACCTGCGTACATTTCTTTTTGACAGATACGCCATTCACAACTCTGGGAAAAGTTTTTCTGTCAAGAAGGTGACAAGCCTATTTCATAGCAGTATTGATTTTGCCAGCTAAACGTAAATATATGGGTAGAATTTTTGATCAAATGTATGTGTGACTCAATACGTACAGTACATATTAAATGTTGTTAAAGTTTCATCTTCAAATAAATATGGGCGGTATAATCATAACATTGTGAAAAATAATTACGTTGTCATTTATTATAATGTAAAATATTCAATAAAGTATAAGTAAATATAATGCCACATACTTATTCTGAGCGGTACTAATTAAAATGTATACCACATACTAAATTTATCATTATGCTAATTTTAAAGTAAAAAGATAATGCCACATATTCTGAGCTGTGGAAATTAAAATATATATCTCATACTAAATGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
hu1919
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000038360 | Splice Site, Nonsense | 262 | 724 | 11 | 20 |
| ENSDART00000133388 | Splice Site, Nonsense | 263 | 725 | 11 | 20 |
| ENSDART00000147996 | None | None | 215 | None | 8 |
Genomic Location (Zv9):
Chromosome 13 (position 43260213)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 42481172 |
| GRCz11 | 13 | 42607232 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTATTATGGATAAGCACATCTTTTTAATCACCTTGTTGTCTTCTAGAT[C/T]GATTGGTGGAGTCTAGTGCCTTGAAGAAAGCAATTGAGACCGTCTACACC
Long Flanking Sequence:
GCAATACCATCATATAACTAATTCCACAACAGTAGCAATAATTAATGATACTCAATTAAATTAAAAGAGTAAAGTCTATTTATAATTGTATAATAAGATTTCATCTCTCTGTCTAGCAAGGTGAGATGGTTGCAGATGTGAAGACTCTCCCAAACGCCTCTGTGCTGGACAACATCCGTGTGGTGTTTGGAGTCGCAGTTAGCAGGTACTTTTATTAGCCTATTCTCAGGTACTGTGAGCATTTTAACTAAAGCATACTTTGATTTGACGTGAGCATCTCTGTATGTGTTTGTGTTTCAGGGAGCTGATTGAAGTTGAATGCGAGGATCAGAAATTTGCTTTTAAAGTGAAGGGCTACATCTCCAATGCTAACTACTCTGTCAAGAAATGCATCCTTATCCTTTTTATCAATCGTATGTGTTATGAGTTTAAATCTACCAAAGTTTTCTTTTTTATTATGGATAAGCACATCTTTTTAATCACCTTGTTGTCTTCTAGAT[C/T]GATTGGTGGAGTCTAGTGCCTTGAAGAAAGCAATTGAGACCGTCTACACCGCTTATCTTCCCAAAAACACTCATCCTTTTCTTTATCTCAGGTAAATCAATAACTTAATTTATGCAAACATATGTTATTTGAAAATCACAGTTAAGTGAATGTATACTATTCAGCAAGAAATCGAATTGAATTGGTAAAAAGTGACCATAAAGACATTTATAGTGTCAGAAAAGATTTAACATTTTCAATAGATGCACTACTTTTAAACTTTCTAGTTATTAAATTATGCAAAAAATTAATATGGTTTTTCTCCCATTGACTGTGTTGACTATTTTCAACACAGTAAATGTTTGTAAATGATGCTGAAAATTCAGTTTAGATTCTCTGCCCAGGCCCAGTATGGGTCAGGCCGATATTTCTTGCCACGATCAAGCATGTGTTTTTTTTGTTATTACTTAATTAGCCTTATTGGGTGAAAAGCTTATGTCATAATTATAAATATTATTTGA
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |
Mutation Details
Allele Name:
sa31959
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000038360 | Nonsense | 271 | 724 | 11 | 20 |
| ENSDART00000133388 | Nonsense | 272 | 725 | 11 | 20 |
| ENSDART00000147996 | None | None | 215 | None | 8 |
Genomic Location (Zv9):
Chromosome 13 (position 43260240)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 42481199 |
| GRCz11 | 13 | 42607259 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATCACCTTGTTGTCTTCTAGATCGATTGGTGGAGTCTAGTGCCTTGAAG[A/T]AAGCAATTGAGACCGTCTACACCGCTTATCTTCCCAAAAACACTCATCCT
Long Flanking Sequence:
AACAGTAGCAATAATTAATGATACTCAATTAAATTAAAAGAGTAAAGTCTATTTATAATTGTATAATAAGATTTCATCTCTCTGTCTAGCAAGGTGAGATGGTTGCAGATGTGAAGACTCTCCCAAACGCCTCTGTGCTGGACAACATCCGTGTGGTGTTTGGAGTCGCAGTTAGCAGGTACTTTTATTAGCCTATTCTCAGGTACTGTGAGCATTTTAACTAAAGCATACTTTGATTTGACGTGAGCATCTCTGTATGTGTTTGTGTTTCAGGGAGCTGATTGAAGTTGAATGCGAGGATCAGAAATTTGCTTTTAAAGTGAAGGGCTACATCTCCAATGCTAACTACTCTGTCAAGAAATGCATCCTTATCCTTTTTATCAATCGTATGTGTTATGAGTTTAAATCTACCAAAGTTTTCTTTTTTATTATGGATAAGCACATCTTTTTAATCACCTTGTTGTCTTCTAGATCGATTGGTGGAGTCTAGTGCCTTGAAG[A/T]AAGCAATTGAGACCGTCTACACCGCTTATCTTCCCAAAAACACTCATCCTTTTCTTTATCTCAGGTAAATCAATAACTTAATTTATGCAAACATATGTTATTTGAAAATCACAGTTAAGTGAATGTATACTATTCAGCAAGAAATCGAATTGAATTGGTAAAAAGTGACCATAAAGACATTTATAGTGTCAGAAAAGATTTAACATTTTCAATAGATGCACTACTTTTAAACTTTCTAGTTATTAAATTATGCAAAAAATTAATATGGTTTTTCTCCCATTGACTGTGTTGACTATTTTCAACACAGTAAATGTTTGTAAATGATGCTGAAAATTCAGTTTAGATTCTCTGCCCAGGCCCAGTATGGGTCAGGCCGATATTTCTTGCCACGATCAAGCATGTGTTTTTTTTGTTATTACTTAATTAGCCTTATTGGGTGAAAAGCTTATGTCATAATTATAAATATTATTTGAATATTTTAGCAAAGACGGCATAAACAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31960
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000038360 | Nonsense | 280 | 724 | 11 | 20 |
| ENSDART00000133388 | Nonsense | 281 | 725 | 11 | 20 |
| ENSDART00000147996 | None | None | 215 | None | 8 |
Genomic Location (Zv9):
Chromosome 13 (position 43260269)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 42481228 |
| GRCz11 | 13 | 42607288 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGGAGTCTAGTGCCTTGAAGAAAGCAATTGAGACCGTCTACACCGCTTA[T/A]CTTCCCAAAAACACTCATCCTTTTCTTTATCTCAGGTAAATCAATAACTT
Long Flanking Sequence:
TAAATTAAAAGAGTAAAGTCTATTTATAATTGTATAATAAGATTTCATCTCTCTGTCTAGCAAGGTGAGATGGTTGCAGATGTGAAGACTCTCCCAAACGCCTCTGTGCTGGACAACATCCGTGTGGTGTTTGGAGTCGCAGTTAGCAGGTACTTTTATTAGCCTATTCTCAGGTACTGTGAGCATTTTAACTAAAGCATACTTTGATTTGACGTGAGCATCTCTGTATGTGTTTGTGTTTCAGGGAGCTGATTGAAGTTGAATGCGAGGATCAGAAATTTGCTTTTAAAGTGAAGGGCTACATCTCCAATGCTAACTACTCTGTCAAGAAATGCATCCTTATCCTTTTTATCAATCGTATGTGTTATGAGTTTAAATCTACCAAAGTTTTCTTTTTTATTATGGATAAGCACATCTTTTTAATCACCTTGTTGTCTTCTAGATCGATTGGTGGAGTCTAGTGCCTTGAAGAAAGCAATTGAGACCGTCTACACCGCTTA[T/A]CTTCCCAAAAACACTCATCCTTTTCTTTATCTCAGGTAAATCAATAACTTAATTTATGCAAACATATGTTATTTGAAAATCACAGTTAAGTGAATGTATACTATTCAGCAAGAAATCGAATTGAATTGGTAAAAAGTGACCATAAAGACATTTATAGTGTCAGAAAAGATTTAACATTTTCAATAGATGCACTACTTTTAAACTTTCTAGTTATTAAATTATGCAAAAAATTAATATGGTTTTTCTCCCATTGACTGTGTTGACTATTTTCAACACAGTAAATGTTTGTAAATGATGCTGAAAATTCAGTTTAGATTCTCTGCCCAGGCCCAGTATGGGTCAGGCCGATATTTCTTGCCACGATCAAGCATGTGTTTTTTTTGTTATTACTTAATTAGCCTTATTGGGTGAAAAGCTTATGTCATAATTATAAATATTATTTGAATATTTTAGCAAAGACGGCATAAACAACATATGTAAGTCTACAAAGTTGCACAATT
Associated Phenotype:
Not determined