Incidental Mutation 'R2186:Mlh1'
ID |
237772 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mlh1
|
Ensembl Gene |
ENSMUSG00000032498 |
Gene Name |
mutL homolog 1 |
Synonyms |
1110035C23Rik, colon cancer, nonpolyposis type 2 |
MMRRC Submission |
040188-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2186 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
111057296-111100854 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 111087634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035079]
[ENSMUST00000135218]
[ENSMUST00000135695]
|
AlphaFold |
Q9JK91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035079
|
SMART Domains |
Protein: ENSMUSP00000035079 Gene: ENSMUSG00000032498
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: ENSMUST00000123869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134316
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135218
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135695
|
SMART Domains |
Protein: ENSMUSP00000119170 Gene: ENSMUSG00000032498
Domain | Start | End | E-Value | Type |
Blast:HATPase_c
|
1 |
53 |
8e-33 |
BLAST |
SCOP:d1b63a2
|
1 |
75 |
7e-22 |
SMART |
PDB:4P7A|A
|
1 |
76 |
2e-47 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199404
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (51/51) |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
A |
G |
11: 59,099,340 (GRCm39) |
N29S |
probably damaging |
Het |
Ap1b1 |
T |
C |
11: 4,965,737 (GRCm39) |
V92A |
possibly damaging |
Het |
Asgr1 |
G |
A |
11: 69,947,075 (GRCm39) |
R66Q |
probably benign |
Het |
Atp8b4 |
T |
A |
2: 126,200,780 (GRCm39) |
Q796L |
probably damaging |
Het |
Camk4 |
A |
C |
18: 33,315,394 (GRCm39) |
D307A |
probably damaging |
Het |
Catsperb |
T |
A |
12: 101,447,041 (GRCm39) |
I223K |
probably benign |
Het |
Ccdc80 |
A |
G |
16: 44,938,468 (GRCm39) |
Y725C |
probably damaging |
Het |
Cep164 |
T |
A |
9: 45,679,876 (GRCm39) |
Q1119L |
probably damaging |
Het |
Cep85l |
G |
A |
10: 53,224,714 (GRCm39) |
P292S |
probably damaging |
Het |
Cfap53 |
A |
G |
18: 74,462,576 (GRCm39) |
|
probably null |
Het |
Cilk1 |
C |
T |
9: 78,038,769 (GRCm39) |
T6M |
probably benign |
Het |
Cts8 |
C |
A |
13: 61,399,545 (GRCm39) |
C138F |
probably damaging |
Het |
Dis3l |
C |
A |
9: 64,246,894 (GRCm39) |
E54* |
probably null |
Het |
Dnaja1 |
T |
A |
4: 40,732,853 (GRCm39) |
D367E |
probably benign |
Het |
Duoxa2 |
T |
C |
2: 122,129,655 (GRCm39) |
I45T |
probably damaging |
Het |
EU599041 |
C |
T |
7: 42,875,333 (GRCm39) |
|
noncoding transcript |
Het |
Exoc5 |
T |
C |
14: 49,252,936 (GRCm39) |
M561V |
probably benign |
Het |
Fam184a |
T |
C |
10: 53,514,290 (GRCm39) |
I296V |
probably damaging |
Het |
Fbxl18 |
C |
T |
5: 142,864,516 (GRCm39) |
V686M |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,222,318 (GRCm39) |
S2088P |
probably damaging |
Het |
Fus |
G |
A |
7: 127,584,706 (GRCm39) |
|
probably benign |
Het |
Gpr183 |
T |
A |
14: 122,191,727 (GRCm39) |
I265L |
probably benign |
Het |
Herc1 |
T |
G |
9: 66,347,183 (GRCm39) |
L2013V |
probably benign |
Het |
Iqca1 |
T |
C |
1: 90,009,066 (GRCm39) |
K430R |
probably benign |
Het |
Iqca1l |
C |
T |
5: 24,759,524 (GRCm39) |
G82E |
probably damaging |
Het |
Itpripl2 |
A |
G |
7: 118,090,500 (GRCm39) |
C20R |
probably damaging |
Het |
Kmt2c |
C |
A |
5: 25,492,110 (GRCm39) |
C852F |
probably damaging |
Het |
Lamb1 |
A |
T |
12: 31,368,466 (GRCm39) |
K1199* |
probably null |
Het |
Lrba |
A |
G |
3: 86,211,643 (GRCm39) |
Y421C |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,375,914 (GRCm39) |
L96P |
probably benign |
Het |
Mcc |
A |
G |
18: 44,945,145 (GRCm39) |
F29S |
possibly damaging |
Het |
Pals1 |
T |
C |
12: 78,866,145 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
A |
G |
5: 28,599,228 (GRCm39) |
T867A |
unknown |
Het |
Sdk1 |
T |
A |
5: 142,032,047 (GRCm39) |
S1041T |
probably benign |
Het |
Serpinb2 |
A |
G |
1: 107,451,694 (GRCm39) |
|
probably null |
Het |
Serpinb9d |
A |
G |
13: 33,387,030 (GRCm39) |
N366S |
possibly damaging |
Het |
Sf3b1 |
A |
G |
1: 55,046,792 (GRCm39) |
S251P |
probably benign |
Het |
Slc45a1 |
T |
C |
4: 150,722,708 (GRCm39) |
Y392C |
probably benign |
Het |
Tlr4 |
T |
A |
4: 66,758,220 (GRCm39) |
C338S |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,824,061 (GRCm39) |
|
probably null |
Het |
Vnn1 |
A |
T |
10: 23,773,299 (GRCm39) |
I109L |
probably benign |
Het |
Wnk1 |
A |
G |
6: 119,925,528 (GRCm39) |
V1312A |
probably benign |
Het |
Zbed6 |
A |
G |
1: 133,585,817 (GRCm39) |
S507P |
probably damaging |
Het |
Zfp28 |
A |
G |
7: 6,397,497 (GRCm39) |
H644R |
probably damaging |
Het |
Zfp286 |
A |
G |
11: 62,671,287 (GRCm39) |
V262A |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,807,962 (GRCm39) |
M1694K |
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 |
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 |
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- CCCTATAGACAAGAAGGTGGGC -3'
(R):5'- GCCTAGTTCATTGAGTTGTATTGAC -3'
Sequencing Primer
(F):5'- CCAATGATCATTTATCTTGGGACTTC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
Posted On |
2014-10-02 |