Incidental Mutation 'R5481:Mlh1'
ID |
434334 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mlh1
|
Ensembl Gene |
ENSMUSG00000032498 |
Gene Name |
mutL homolog 1 |
Synonyms |
1110035C23Rik, colon cancer, nonpolyposis type 2 |
MMRRC Submission |
043042-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5481 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
111057296-111100854 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 111058905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035078]
[ENSMUST00000035079]
[ENSMUST00000098340]
[ENSMUST00000135218]
|
AlphaFold |
Q9JK91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035078
|
SMART Domains |
Protein: ENSMUSP00000035078 Gene: ENSMUSG00000032497
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
340 |
2.5e-106 |
PFAM |
|
Predicted Effect |
probably null
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 |
probably benign
Transcript: ENSMUST00000098340
|
SMART Domains |
Protein: ENSMUSP00000095944 Gene: ENSMUSG00000032497
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
31 |
326 |
2.7e-122 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128795
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135218
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197540
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200145
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 95.1%
- 20x: 90.0%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522H14Rik |
A |
G |
4: 109,362,759 (GRCm39) |
S187P |
probably damaging |
Het |
Aass |
C |
A |
6: 23,113,475 (GRCm39) |
V282L |
probably benign |
Het |
Adh6a |
G |
T |
3: 138,031,719 (GRCm39) |
V204F |
probably damaging |
Het |
Adrm1b |
A |
G |
3: 92,336,658 (GRCm39) |
S15P |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,384,799 (GRCm39) |
K148E |
possibly damaging |
Het |
Atp12a |
A |
T |
14: 56,610,846 (GRCm39) |
D330V |
possibly damaging |
Het |
Barhl1 |
A |
G |
2: 28,805,352 (GRCm39) |
Y114H |
probably damaging |
Het |
BC106179 |
T |
A |
16: 23,042,918 (GRCm39) |
|
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,570,900 (GRCm39) |
L792P |
probably benign |
Het |
Calcoco2 |
A |
G |
11: 95,998,369 (GRCm39) |
V18A |
probably damaging |
Het |
Chpf2 |
A |
T |
5: 24,794,340 (GRCm39) |
H170L |
probably damaging |
Het |
Chrna1 |
T |
A |
2: 73,397,270 (GRCm39) |
I340F |
possibly damaging |
Het |
Ckap5 |
A |
T |
2: 91,402,792 (GRCm39) |
I690F |
possibly damaging |
Het |
Col10a1 |
A |
G |
10: 34,271,660 (GRCm39) |
H544R |
probably benign |
Het |
Cyp2b19 |
A |
C |
7: 26,466,246 (GRCm39) |
T350P |
probably damaging |
Het |
Dgkq |
A |
G |
5: 108,796,676 (GRCm39) |
|
probably null |
Het |
Dnah1 |
A |
G |
14: 31,030,828 (GRCm39) |
V443A |
possibly damaging |
Het |
Erbb3 |
T |
C |
10: 128,408,349 (GRCm39) |
D855G |
probably damaging |
Het |
Fam3c |
T |
C |
6: 22,321,357 (GRCm39) |
D138G |
probably benign |
Het |
Fen1 |
A |
G |
19: 10,178,022 (GRCm39) |
C141R |
probably damaging |
Het |
Flnc |
G |
A |
6: 29,441,216 (GRCm39) |
G390D |
probably damaging |
Het |
Fnip1 |
C |
A |
11: 54,393,470 (GRCm39) |
D635E |
probably benign |
Het |
Fry |
A |
T |
5: 150,183,784 (GRCm39) |
L17F |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,810,230 (GRCm39) |
I2183T |
probably benign |
Het |
Gfpt1 |
T |
A |
6: 87,027,951 (GRCm39) |
I19N |
probably damaging |
Het |
Hus1b |
T |
C |
13: 31,130,942 (GRCm39) |
D239G |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,987,966 (GRCm39) |
K546R |
probably benign |
Het |
Kmt2d |
A |
G |
15: 98,759,886 (GRCm39) |
V1124A |
unknown |
Het |
Krtap16-1 |
A |
G |
11: 99,876,153 (GRCm39) |
I417T |
probably damaging |
Het |
Manba |
A |
T |
3: 135,230,317 (GRCm39) |
N297Y |
possibly damaging |
Het |
Mblac1 |
A |
G |
5: 138,193,078 (GRCm39) |
D140G |
probably damaging |
Het |
Morc1 |
T |
A |
16: 48,381,848 (GRCm39) |
|
probably null |
Het |
Morc3 |
C |
A |
16: 93,659,543 (GRCm39) |
P449Q |
probably damaging |
Het |
Mtr |
T |
C |
13: 12,203,041 (GRCm39) |
|
probably null |
Het |
Mylk |
T |
A |
16: 34,741,974 (GRCm39) |
C829S |
probably benign |
Het |
Myo1d |
A |
G |
11: 80,553,921 (GRCm39) |
I520T |
possibly damaging |
Het |
Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
Nos1 |
A |
T |
5: 118,005,819 (GRCm39) |
I180F |
probably benign |
Het |
Ntsr1 |
C |
T |
2: 180,183,313 (GRCm39) |
T341M |
possibly damaging |
Het |
Or8b51 |
A |
T |
9: 38,568,916 (GRCm39) |
F257L |
probably benign |
Het |
P2rx7 |
A |
G |
5: 122,818,883 (GRCm39) |
D435G |
possibly damaging |
Het |
Peli2 |
C |
A |
14: 48,490,090 (GRCm39) |
N136K |
probably damaging |
Het |
Pigt |
C |
A |
2: 164,348,342 (GRCm39) |
P429H |
probably damaging |
Het |
Pik3r2 |
T |
C |
8: 71,222,408 (GRCm39) |
I515V |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,422,042 (GRCm39) |
Y3104C |
probably damaging |
Het |
Ppp1r16a |
A |
C |
15: 76,575,221 (GRCm39) |
E43A |
probably damaging |
Het |
Ptpn18 |
T |
C |
1: 34,510,744 (GRCm39) |
L260P |
possibly damaging |
Het |
Scaf11 |
A |
T |
15: 96,318,498 (GRCm39) |
S355R |
probably damaging |
Het |
Sema4a |
A |
T |
3: 88,360,347 (GRCm39) |
Y77* |
probably null |
Het |
Serpinb9b |
T |
C |
13: 33,222,076 (GRCm39) |
V230A |
possibly damaging |
Het |
Sfswap |
T |
A |
5: 129,591,882 (GRCm39) |
S300T |
probably damaging |
Het |
Slc22a30 |
T |
C |
19: 8,314,201 (GRCm39) |
N495S |
probably benign |
Het |
Srcap |
G |
A |
7: 127,131,369 (GRCm39) |
G836D |
probably damaging |
Het |
Stard4 |
A |
C |
18: 33,338,298 (GRCm39) |
C137W |
probably benign |
Het |
Stat6 |
A |
G |
10: 127,483,695 (GRCm39) |
|
probably null |
Het |
Steap3 |
T |
C |
1: 120,169,454 (GRCm39) |
D243G |
probably benign |
Het |
Taf1c |
A |
G |
8: 120,325,979 (GRCm39) |
S628P |
probably damaging |
Het |
Unkl |
C |
T |
17: 25,420,146 (GRCm39) |
Q13* |
probably null |
Het |
Usp38 |
A |
G |
8: 81,719,952 (GRCm39) |
S426P |
possibly damaging |
Het |
Vmn2r8 |
T |
C |
5: 108,949,636 (GRCm39) |
T404A |
probably benign |
Het |
Washc1 |
T |
C |
17: 66,425,860 (GRCm39) |
V425A |
probably benign |
Het |
Zfyve9 |
A |
G |
4: 108,501,546 (GRCm39) |
I590T |
probably 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 |
R5265:Mlh1
|
UTSW |
9 |
111,100,591 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
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'- GGAAGTCTATGTTCTAGTCCAGCAG -3'
(R):5'- ACTGTTAAAGCCCTGACTGAAC -3'
Sequencing Primer
(F):5'- CGCTATAATCTCAGCACTTAGGAGG -3'
(R):5'- GACTGAACTGAATGCTTGCC -3'
|
Posted On |
2016-10-06 |