Incidental Mutation 'R5166:Mlh1'
| ID |
397311 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5166 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
111057296-111100854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111070581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 378
(V378A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035079]
[ENSMUST00000135218]
|
| AlphaFold |
Q9JK91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035079
AA Change: V378A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000035079
Gene: ENSMUSG00000032498
AA Change: V378A
| 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 |
noncoding transcript
Transcript: ENSMUST00000123713
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123869
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199404
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
T |
C |
5: 121,738,083 (GRCm39) |
T435A |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,184,438 (GRCm39) |
I38N |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,902,523 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
A |
G |
2: 153,243,041 (GRCm39) |
E1197G |
probably damaging |
Het |
| Brinp3 |
T |
A |
1: 146,777,105 (GRCm39) |
N517K |
probably damaging |
Het |
| Carmil1 |
C |
T |
13: 24,338,966 (GRCm39) |
|
probably null |
Het |
| Ccdc185 |
G |
A |
1: 182,576,564 (GRCm39) |
Q42* |
probably null |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdh10 |
A |
G |
15: 19,013,446 (GRCm39) |
E682G |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,738,330 (GRCm39) |
R456L |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,529,489 (GRCm39) |
R307H |
probably benign |
Het |
| Flt4 |
T |
C |
11: 49,524,084 (GRCm39) |
|
probably null |
Het |
| Fstl5 |
A |
C |
3: 76,536,267 (GRCm39) |
K26Q |
possibly damaging |
Het |
| Gk5 |
G |
T |
9: 96,056,821 (GRCm39) |
A413S |
probably damaging |
Het |
| Glcci1 |
T |
A |
6: 8,537,854 (GRCm39) |
S157R |
probably benign |
Het |
| Gzmc |
G |
A |
14: 56,471,433 (GRCm39) |
A36V |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,318,512 (GRCm39) |
N283S |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,249,774 (GRCm39) |
E2239G |
possibly damaging |
Het |
| Igkv10-95 |
A |
T |
6: 68,657,544 (GRCm39) |
Y20F |
probably benign |
Het |
| Il17re |
A |
G |
6: 113,439,923 (GRCm39) |
T181A |
probably benign |
Het |
| Kcnh6 |
G |
A |
11: 105,911,145 (GRCm39) |
A514T |
possibly damaging |
Het |
| Kcnk10 |
G |
A |
12: 98,401,254 (GRCm39) |
R460W |
probably damaging |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,721 (GRCm39) |
S320T |
unknown |
Het |
| Larp1b |
G |
T |
3: 40,918,487 (GRCm39) |
E24* |
probably null |
Het |
| Mettl22 |
A |
G |
16: 8,296,115 (GRCm39) |
T135A |
probably benign |
Het |
| Mmrn1 |
A |
T |
6: 60,953,474 (GRCm39) |
H585L |
probably benign |
Het |
| Myh14 |
A |
G |
7: 44,278,279 (GRCm39) |
F1024L |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,926,874 (GRCm39) |
H776Q |
probably damaging |
Het |
| Nod2 |
A |
G |
8: 89,390,875 (GRCm39) |
D372G |
possibly damaging |
Het |
| Nptn |
C |
T |
9: 58,526,263 (GRCm39) |
R137* |
probably null |
Het |
| Or9k2 |
T |
C |
10: 129,998,430 (GRCm39) |
Y255C |
possibly damaging |
Het |
| Pm20d2 |
C |
T |
4: 33,181,803 (GRCm39) |
V267I |
probably benign |
Het |
| Rassf10 |
A |
G |
7: 112,553,627 (GRCm39) |
D76G |
probably benign |
Het |
| Rbbp5 |
A |
G |
1: 132,418,303 (GRCm39) |
T41A |
possibly damaging |
Het |
| Rttn |
T |
C |
18: 89,031,218 (GRCm39) |
V643A |
possibly damaging |
Het |
| Sbno2 |
C |
A |
10: 79,902,762 (GRCm39) |
E421* |
probably null |
Het |
| Slc17a3 |
T |
C |
13: 24,026,525 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
T |
A |
10: 78,632,103 (GRCm39) |
|
probably null |
Het |
| Slco2b1 |
A |
G |
7: 99,338,220 (GRCm39) |
S106P |
possibly damaging |
Het |
| Spef1 |
T |
C |
2: 131,016,511 (GRCm39) |
N28S |
probably damaging |
Het |
| Srebf2 |
C |
A |
15: 82,069,603 (GRCm39) |
T675N |
probably damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,500,216 (GRCm39) |
L1114H |
possibly damaging |
Het |
| Tex15 |
T |
C |
8: 34,066,420 (GRCm39) |
V1950A |
probably benign |
Het |
| Tnfsf9 |
T |
A |
17: 57,413,263 (GRCm39) |
F148Y |
possibly damaging |
Het |
| Traf6 |
A |
G |
2: 101,520,402 (GRCm39) |
D150G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,693,717 (GRCm39) |
Y262H |
possibly damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,994,027 (GRCm39) |
Y386C |
probably damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,125 (GRCm39) |
E119V |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,842,100 (GRCm39) |
|
probably null |
Het |
| Zfp398 |
A |
G |
6: 47,842,838 (GRCm39) |
I165V |
probably benign |
Het |
| Zfp850 |
A |
T |
7: 27,689,781 (GRCm39) |
C142* |
probably null |
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTCTCACTCTCAGCAGCTG -3'
(R):5'- AACTCCATCTGACTCTGACATC -3'
Sequencing Primer
(F):5'- TGCTTCAGCGGGGGCTG -3'
(R):5'- GACATCTTTGTCCACTGCTGTTCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation