Incidental Mutation 'IGL03394:Mlh1'
ID421170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mlh1
Ensembl Gene ENSMUSG00000032498
Gene NamemutL homolog 1
Synonymscolon cancer, nonpolyposis type 2, 1110035C23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03394
Quality Score
Status
Chromosome9
Chromosomal Location111228228-111271791 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 111268243 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 61 (I61N)
Ref Sequence ENSEMBL: ENSMUSP00000035079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035079] [ENSMUST00000060711] [ENSMUST00000135218] [ENSMUST00000135807]
Predicted Effect probably damaging
Transcript: ENSMUST00000035079
AA Change: I61N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035079
Gene: ENSMUSG00000032498
AA Change: I61N

DomainStartEndE-ValueType
HATPase_c 23 158 4.57e-1 SMART
DNA_mis_repair 216 335 1.08e-44 SMART
low complexity region 363 375 N/A INTRINSIC
low complexity region 429 454 N/A INTRINSIC
Pfam:Mlh1_C 504 760 8.3e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134316
Predicted Effect probably benign
Transcript: ENSMUST00000135218
Predicted Effect probably benign
Transcript: ENSMUST00000135807
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced pairing in meiotic prophase I and produce no mature germ cells. Mutants also display increased microsatellite instability and a predisposition for developing intestinal and other tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,324,351 L242P probably damaging Het
Adam22 T C 5: 8,167,379 I139V probably benign Het
Ahr G T 12: 35,503,752 Y789* probably null Het
Ankrd27 C A 7: 35,607,098 probably null Het
Ano1 T C 7: 144,595,439 probably null Het
Ap4e1 T A 2: 127,063,397 M996K probably benign Het
Bglap T C 3: 88,384,005 K42E probably benign Het
Ccdc30 A T 4: 119,359,582 S220R probably damaging Het
Clic5 A G 17: 44,237,218 N50S probably benign Het
Cyp20a1 T G 1: 60,366,681 D211E probably damaging Het
Dctn1 G A 6: 83,191,284 V408I possibly damaging Het
Exoc6 T C 19: 37,599,572 I551T probably benign Het
Fat4 C T 3: 38,892,019 T1687M probably damaging Het
Fat4 T A 3: 39,009,364 C4490S probably damaging Het
Fras1 T A 5: 96,667,477 I1351N probably damaging Het
Gm10031 A T 1: 156,525,222 Q331L probably benign Het
Igkv2-116 T C 6: 68,152,343 noncoding transcript Het
Iws1 T G 18: 32,088,248 probably benign Het
Mtmr7 C T 8: 40,608,929 V38M probably damaging Het
Myh7 G T 14: 54,975,361 A1409D probably damaging Het
Myt1 A T 2: 181,797,845 I387F probably damaging Het
Nars2 A G 7: 97,040,013 N381D possibly damaging Het
Nsd3 T C 8: 25,675,749 probably benign Het
Nup107 A G 10: 117,782,028 S162P probably damaging Het
Olfr904 A G 9: 38,464,221 Y60C probably damaging Het
Oog2 T C 4: 144,194,006 F3S probably benign Het
Oxgr1 T C 14: 120,022,610 M62V possibly damaging Het
Pcgf1 A G 6: 83,079,140 Y75C probably damaging Het
Ppp3cc C A 14: 70,225,028 E396* probably null Het
Ptx4 T A 17: 25,124,675 C300S probably damaging Het
Rassf4 C T 6: 116,641,747 V192I probably damaging Het
Rundc3b T C 5: 8,548,261 T203A possibly damaging Het
Serpinb3c T C 1: 107,271,873 D306G probably benign Het
Sipa1l2 T C 8: 125,491,659 E313G possibly damaging Het
Snx5 G A 2: 144,253,754 A329V probably damaging Het
Stx1b T C 7: 127,807,884 D213G probably damaging Het
Tpd52l2 G A 2: 181,515,086 V172I probably benign Het
Trim50 A T 5: 135,363,953 I241F probably damaging Het
Ttn G A 2: 76,750,416 H23378Y probably benign Het
Vmn1r193 T A 13: 22,219,769 M18L probably benign Het
Vmn1r226 A G 17: 20,688,184 N226S probably benign Het
Vmn2r14 T A 5: 109,219,836 Q430L probably null Het
Xirp2 T A 2: 67,515,194 V2593D probably damaging Het
Zfp169 A T 13: 48,489,924 F576I possibly damaging Het
Zfp667 T C 7: 6,289,439 probably null Het
Zzef1 A G 11: 72,886,775 probably null Het
Other mutations in Mlh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Mlh1 APN 9 111252912 missense possibly damaging 0.84
IGL02530:Mlh1 APN 9 111229875 missense probably benign 0.09
IGL02811:Mlh1 APN 9 111271514 missense probably benign 0.04
IGL02892:Mlh1 APN 9 111252969 missense probably benign 0.00
andalusia UTSW 9 111271410 makesense probably null
andalusia2 UTSW 9 111271523 start codon destroyed probably null 0.93
andalusia3 UTSW 9 111229838 critical splice donor site probably null
ANU23:Mlh1 UTSW 9 111252912 missense possibly damaging 0.84
PIT4495001:Mlh1 UTSW 9 111247260 missense probably benign 0.00
R0496:Mlh1 UTSW 9 111241556 missense probably benign
R0723:Mlh1 UTSW 9 111271472 missense probably damaging 1.00
R1395:Mlh1 UTSW 9 111247377 missense probably damaging 1.00
R1694:Mlh1 UTSW 9 111228475 missense probably damaging 1.00
R1762:Mlh1 UTSW 9 111229929 missense probably damaging 1.00
R1865:Mlh1 UTSW 9 111257024 intron probably benign
R1885:Mlh1 UTSW 9 111258556 missense probably benign 0.18
R1992:Mlh1 UTSW 9 111228563 missense probably damaging 0.96
R2186:Mlh1 UTSW 9 111258566 unclassified probably benign
R2680:Mlh1 UTSW 9 111236017 critical splice acceptor site probably null
R4693:Mlh1 UTSW 9 111255658 missense probably damaging 1.00
R4784:Mlh1 UTSW 9 111239798 missense probably benign
R5007:Mlh1 UTSW 9 111271410 makesense probably null
R5130:Mlh1 UTSW 9 111229838 critical splice donor site probably null
R5166:Mlh1 UTSW 9 111241513 missense probably benign 0.04
R5265:Mlh1 UTSW 9 111271523 start codon destroyed probably null 0.93
R5481:Mlh1 UTSW 9 111229837 splice site probably null
R5483:Mlh1 UTSW 9 111231058 missense possibly damaging 0.82
R5602:Mlh1 UTSW 9 111252878 missense probably damaging 0.97
R5658:Mlh1 UTSW 9 111247380 missense probably damaging 0.99
R5890:Mlh1 UTSW 9 111228495 missense possibly damaging 0.88
R6810:Mlh1 UTSW 9 111241558 missense possibly damaging 0.52
Posted On2016-08-02