Incidental Mutation 'IGL02811:Mlh1'
| ID |
360579 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mlh1
|
| Ensembl Gene |
ENSMUSG00000032498 |
| Gene Name |
mutL homolog 1 |
| Synonyms |
1110035C23Rik, colon cancer, nonpolyposis type 2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02811
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
111057296-111100854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111100582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 4
(V4A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035079]
[ENSMUST00000060711]
[ENSMUST00000135218]
[ENSMUST00000135807]
|
| AlphaFold |
Q9JK91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035079
AA Change: V4A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000035079
Gene: ENSMUSG00000032498
AA Change: V4A
| Domain | Start | End | E-Value | Type |
|---|
|
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
AA Change: V4A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135807
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200053
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
C |
T |
13: 4,562,682 (GRCm39) |
R90H |
possibly damaging |
Het |
| BC048679 |
A |
T |
7: 81,144,937 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,832,221 (GRCm39) |
R984G |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,285 (GRCm39) |
I1139T |
possibly damaging |
Het |
| Coq3 |
A |
G |
4: 21,900,273 (GRCm39) |
R167G |
probably damaging |
Het |
| Crim1 |
A |
G |
17: 78,658,130 (GRCm39) |
K670E |
possibly damaging |
Het |
| Crtac1 |
T |
C |
19: 42,322,350 (GRCm39) |
E130G |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,196,069 (GRCm39) |
T426A |
probably benign |
Het |
| Dimt1 |
T |
C |
13: 107,084,175 (GRCm39) |
|
probably benign |
Het |
| Dnal1 |
G |
A |
12: 84,178,166 (GRCm39) |
|
probably null |
Het |
| Fes |
T |
C |
7: 80,029,589 (GRCm39) |
Y631C |
probably damaging |
Het |
| Hemk1 |
A |
T |
9: 107,208,750 (GRCm39) |
V149E |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,657,076 (GRCm39) |
V397A |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,026 (GRCm39) |
L2028* |
probably null |
Het |
| Krt33b |
C |
A |
11: 99,920,395 (GRCm39) |
C86F |
probably benign |
Het |
| Lmx1a |
A |
G |
1: 167,618,943 (GRCm39) |
I101V |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,944,718 (GRCm39) |
I440V |
possibly damaging |
Het |
| Mrpl35 |
A |
G |
6: 71,795,804 (GRCm39) |
Y28H |
probably benign |
Het |
| Oas3 |
C |
A |
5: 120,902,387 (GRCm39) |
E636D |
unknown |
Het |
| Olfm4 |
T |
A |
14: 80,259,113 (GRCm39) |
S454T |
probably damaging |
Het |
| Or4l15 |
T |
A |
14: 50,197,590 (GRCm39) |
|
probably benign |
Het |
| Or52ab2 |
T |
C |
7: 102,970,140 (GRCm39) |
I174T |
probably benign |
Het |
| Otoa |
G |
T |
7: 120,717,878 (GRCm39) |
G365V |
possibly damaging |
Het |
| Pdgfrl |
G |
T |
8: 41,430,005 (GRCm39) |
R124L |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,411,851 (GRCm39) |
V380E |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,836,106 (GRCm39) |
D345G |
probably damaging |
Het |
| Shq1 |
A |
T |
6: 100,607,945 (GRCm39) |
I322N |
probably damaging |
Het |
| Skint4 |
C |
A |
4: 111,944,200 (GRCm39) |
T4K |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,107,149 (GRCm39) |
I469T |
probably damaging |
Het |
| Thoc3 |
T |
C |
13: 54,607,988 (GRCm39) |
R319G |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,793,348 (GRCm39) |
I507M |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,923,458 (GRCm39) |
I271N |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,858,335 (GRCm39) |
D2157G |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,231,899 (GRCm39) |
V586D |
probably benign |
Het |
|
| Other mutations in Mlh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Mlh1
|
APN |
9 |
111,081,980 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02530:Mlh1
|
APN |
9 |
111,058,943 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02892:Mlh1
|
APN |
9 |
111,082,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03394:Mlh1
|
APN |
9 |
111,097,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
andalusia
|
UTSW |
9 |
111,100,478 (GRCm39) |
makesense |
probably null |
|
|
andalusia2
|
UTSW |
9 |
111,100,591 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
andalusia3
|
UTSW |
9 |
111,058,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
ANU23:Mlh1
|
UTSW |
9 |
111,081,980 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
PIT4495001:Mlh1
|
UTSW |
9 |
111,076,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0496:Mlh1
|
UTSW |
9 |
111,070,624 (GRCm39) |
missense |
probably benign |
|
|
R0723:Mlh1
|
UTSW |
9 |
111,100,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:Mlh1
|
UTSW |
9 |
111,076,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Mlh1
|
UTSW |
9 |
111,057,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Mlh1
|
UTSW |
9 |
111,058,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Mlh1
|
UTSW |
9 |
111,086,092 (GRCm39) |
intron |
probably benign |
|
|
R1885:Mlh1
|
UTSW |
9 |
111,087,624 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1992:Mlh1
|
UTSW |
9 |
111,057,631 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2186:Mlh1
|
UTSW |
9 |
111,087,634 (GRCm39) |
unclassified |
probably benign |
|
|
R2680:Mlh1
|
UTSW |
9 |
111,065,085 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4693:Mlh1
|
UTSW |
9 |
111,084,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Mlh1
|
UTSW |
9 |
111,068,866 (GRCm39) |
missense |
probably benign |
|
|
R5007:Mlh1
|
UTSW |
9 |
111,100,478 (GRCm39) |
makesense |
probably null |
|
|
R5130:Mlh1
|
UTSW |
9 |
111,058,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5166:Mlh1
|
UTSW |
9 |
111,070,581 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5265:Mlh1
|
UTSW |
9 |
111,100,591 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
R5481:Mlh1
|
UTSW |
9 |
111,058,905 (GRCm39) |
splice site |
probably null |
|
|
R5483:Mlh1
|
UTSW |
9 |
111,060,126 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5602:Mlh1
|
UTSW |
9 |
111,081,946 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5658:Mlh1
|
UTSW |
9 |
111,076,448 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5890:Mlh1
|
UTSW |
9 |
111,057,563 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6810:Mlh1
|
UTSW |
9 |
111,070,626 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7607:Mlh1
|
UTSW |
9 |
111,058,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Mlh1
|
UTSW |
9 |
111,081,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7894:Mlh1
|
UTSW |
9 |
111,059,145 (GRCm39) |
splice site |
probably null |
|
|
R7912:Mlh1
|
UTSW |
9 |
111,090,581 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7995:Mlh1
|
UTSW |
9 |
111,064,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Mlh1
|
UTSW |
9 |
111,085,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8280:Mlh1
|
UTSW |
9 |
111,078,286 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8804:Mlh1
|
UTSW |
9 |
111,093,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Mlh1
|
UTSW |
9 |
111,060,013 (GRCm39) |
missense |
|
|
|
| Posted On |
2015-12-18 |
Incidental Mutation