Incidental Mutation 'R5265:Mlh1'
ID |
401667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mlh1
|
Ensembl Gene |
ENSMUSG00000032498 |
Gene Name |
mutL homolog 1 |
Synonyms |
1110035C23Rik, colon cancer, nonpolyposis type 2 |
MMRRC Submission |
042833-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5265 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
111057296-111100854 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to C
at 111100591 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 1
(M1R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035079]
[ENSMUST00000060711]
[ENSMUST00000135218]
[ENSMUST00000135807]
|
AlphaFold |
Q9JK91 |
Predicted Effect |
probably null
Transcript: ENSMUST00000035079
AA Change: M1R
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035079 Gene: ENSMUSG00000032498 AA Change: M1R
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 null
Transcript: ENSMUST00000135218
AA Change: M1R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135807
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200053
|
Meta Mutation Damage Score |
0.9702 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (59/59) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
G |
9: 57,166,177 (GRCm39) |
W66R |
probably damaging |
Het |
Adamts3 |
A |
G |
5: 90,009,411 (GRCm39) |
V84A |
possibly damaging |
Het |
Caap1 |
C |
A |
4: 94,389,465 (GRCm39) |
E290* |
probably null |
Het |
Cant1 |
G |
A |
11: 118,298,876 (GRCm39) |
R296C |
probably damaging |
Het |
Cdh5 |
A |
T |
8: 104,869,371 (GRCm39) |
H699L |
probably benign |
Het |
Cfdp1 |
T |
C |
8: 112,557,617 (GRCm39) |
T175A |
probably benign |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Comtd1 |
G |
A |
14: 21,898,861 (GRCm39) |
T27I |
probably benign |
Het |
Copg1 |
T |
A |
6: 87,869,252 (GRCm39) |
V155D |
probably damaging |
Het |
Dag1 |
A |
G |
9: 108,084,898 (GRCm39) |
Y748H |
possibly damaging |
Het |
Dmwd |
T |
A |
7: 18,814,206 (GRCm39) |
N285K |
possibly damaging |
Het |
Dsp |
A |
G |
13: 38,379,159 (GRCm39) |
E1968G |
possibly damaging |
Het |
Ednra |
A |
G |
8: 78,394,004 (GRCm39) |
I364T |
probably damaging |
Het |
Elovl3 |
C |
A |
19: 46,123,120 (GRCm39) |
T232K |
probably damaging |
Het |
Ercc3 |
T |
A |
18: 32,387,296 (GRCm39) |
I503N |
probably damaging |
Het |
Ercc6 |
C |
A |
14: 32,291,580 (GRCm39) |
A1008D |
probably benign |
Het |
Gm10563 |
TTTC |
TTTCATTC |
4: 155,698,953 (GRCm39) |
|
probably null |
Het |
H2-DMb2 |
G |
T |
17: 34,367,536 (GRCm39) |
V117F |
probably damaging |
Het |
Helt |
A |
T |
8: 46,745,470 (GRCm39) |
W138R |
probably damaging |
Het |
Itga11 |
A |
T |
9: 62,644,694 (GRCm39) |
H215L |
probably benign |
Het |
Kcnn1 |
T |
A |
8: 71,307,297 (GRCm39) |
I156F |
probably benign |
Het |
Kdm1b |
A |
G |
13: 47,216,445 (GRCm39) |
N272D |
probably benign |
Het |
Kdm2b |
T |
C |
5: 123,016,651 (GRCm39) |
T1161A |
probably damaging |
Het |
Lin54 |
A |
G |
5: 100,633,378 (GRCm39) |
L102P |
probably damaging |
Het |
Naip2 |
G |
A |
13: 100,289,068 (GRCm39) |
L1165F |
probably damaging |
Het |
Nfkbiz |
A |
G |
16: 55,640,004 (GRCm39) |
S118P |
probably damaging |
Het |
Nkx3-2 |
T |
A |
5: 41,919,191 (GRCm39) |
M266L |
probably benign |
Het |
Npr1 |
T |
C |
3: 90,364,309 (GRCm39) |
E771G |
probably benign |
Het |
Obox8 |
C |
T |
7: 14,065,954 (GRCm39) |
R188H |
probably benign |
Het |
Odad1 |
T |
A |
7: 45,596,859 (GRCm39) |
D395E |
probably damaging |
Het |
Or5h19 |
A |
T |
16: 58,856,506 (GRCm39) |
V198D |
possibly damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,609 (GRCm39) |
V277E |
possibly damaging |
Het |
Palm3 |
T |
C |
8: 84,748,159 (GRCm39) |
|
probably null |
Het |
Palmd |
A |
T |
3: 116,717,498 (GRCm39) |
V333D |
possibly damaging |
Het |
Pikfyve |
A |
G |
1: 65,306,988 (GRCm39) |
E1747G |
possibly damaging |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Ranbp3l |
T |
A |
15: 9,037,077 (GRCm39) |
F127I |
probably benign |
Het |
Rsl1d1 |
A |
G |
16: 11,019,248 (GRCm39) |
F97L |
possibly damaging |
Het |
Scaper |
A |
G |
9: 55,771,830 (GRCm39) |
V362A |
probably benign |
Het |
Scg5 |
A |
T |
2: 113,607,210 (GRCm39) |
L192* |
probably null |
Het |
Slc34a2 |
T |
C |
5: 53,218,776 (GRCm39) |
I198T |
probably damaging |
Het |
Slc45a3 |
T |
A |
1: 131,905,932 (GRCm39) |
D318E |
possibly damaging |
Het |
Sorl1 |
A |
G |
9: 42,017,812 (GRCm39) |
M105T |
possibly damaging |
Het |
St3gal5 |
T |
A |
6: 72,126,115 (GRCm39) |
I320N |
probably damaging |
Het |
Stx17 |
A |
G |
4: 48,183,470 (GRCm39) |
|
probably benign |
Het |
Syt5 |
C |
T |
7: 4,544,074 (GRCm39) |
|
probably null |
Het |
Thrap3 |
A |
G |
4: 126,061,433 (GRCm39) |
S774P |
probably damaging |
Het |
Tnc |
A |
T |
4: 63,911,443 (GRCm39) |
M1376K |
probably benign |
Het |
Tnks1bp1 |
T |
A |
2: 84,893,098 (GRCm39) |
D1008E |
probably benign |
Het |
Trav7-1 |
G |
T |
14: 52,892,761 (GRCm39) |
A105S |
probably damaging |
Het |
Vmn1r28 |
T |
A |
6: 58,242,949 (GRCm39) |
V264D |
probably damaging |
Het |
Vmn1r44 |
T |
C |
6: 89,870,821 (GRCm39) |
V46A |
probably benign |
Het |
Vmn2r10 |
A |
G |
5: 109,143,586 (GRCm39) |
I788T |
probably damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,332 (GRCm39) |
I75N |
probably damaging |
Het |
Zfp821 |
T |
C |
8: 110,450,991 (GRCm39) |
M328T |
probably damaging |
Het |
Zfp995 |
G |
A |
17: 22,099,604 (GRCm39) |
P210L |
possibly damaging |
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 |
IGL02811:Mlh1
|
APN |
9 |
111,100,582 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- CCGTGTGCATAATGGGAAAC -3'
(R):5'- TTTAGAGCGGGACAGAGATCC -3'
Sequencing Primer
(F):5'- GAAACCAGCCTGGCACG -3'
(R):5'- CGGGACAGAGATCCCAGGAAC -3'
|
Posted On |
2016-07-06 |