Incidental Mutation 'R5265:Mlh1'
| ID |
401667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlh1
|
| Ensembl Gene |
ENSMUSG00000032498 |
| Gene Name |
mutL homolog 1 |
| Synonyms |
colon cancer, nonpolyposis type 2, 1110035C23Rik |
| 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 |
111228228-111271791 bp(-) (GRCm38) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to C
at 111271523 bp (GRCm38)
|
| 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: 57,258,894 (GRCm38) |
W66R |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,861,552 (GRCm38) |
V84A |
possibly damaging |
Het |
| Caap1 |
C |
A |
4: 94,501,228 (GRCm38) |
E290* |
probably null |
Het |
| Cant1 |
G |
A |
11: 118,408,050 (GRCm38) |
R296C |
probably damaging |
Het |
| Ccdc114 |
T |
A |
7: 45,947,435 (GRCm38) |
D395E |
probably damaging |
Het |
| Cdh5 |
A |
T |
8: 104,142,739 (GRCm38) |
H699L |
probably benign |
Het |
| Cfdp1 |
T |
C |
8: 111,830,985 (GRCm38) |
T175A |
probably benign |
Het |
| Col4a4 |
C |
T |
1: 82,493,591 (GRCm38) |
G681E |
unknown |
Het |
| Comtd1 |
G |
A |
14: 21,848,793 (GRCm38) |
T27I |
probably benign |
Het |
| Copg1 |
T |
A |
6: 87,892,270 (GRCm38) |
V155D |
probably damaging |
Het |
| Dag1 |
A |
G |
9: 108,207,699 (GRCm38) |
Y748H |
possibly damaging |
Het |
| Dmwd |
T |
A |
7: 19,080,281 (GRCm38) |
N285K |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,195,183 (GRCm38) |
E1968G |
possibly damaging |
Het |
| Ednra |
A |
G |
8: 77,667,375 (GRCm38) |
I364T |
probably damaging |
Het |
| Elovl3 |
C |
A |
19: 46,134,681 (GRCm38) |
T232K |
probably damaging |
Het |
| Ercc3 |
T |
A |
18: 32,254,243 (GRCm38) |
I503N |
probably damaging |
Het |
| Ercc6 |
C |
A |
14: 32,569,623 (GRCm38) |
A1008D |
probably benign |
Het |
| Gm10563 |
TTTC |
TTTCATTC |
4: 155,614,496 (GRCm38) |
|
probably null |
Het |
| H2-DMb2 |
G |
T |
17: 34,148,562 (GRCm38) |
V117F |
probably damaging |
Het |
| Helt |
A |
T |
8: 46,292,433 (GRCm38) |
W138R |
probably damaging |
Het |
| Itga11 |
A |
T |
9: 62,737,412 (GRCm38) |
H215L |
probably benign |
Het |
| Kcnn1 |
T |
A |
8: 70,854,653 (GRCm38) |
I156F |
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,062,969 (GRCm38) |
N272D |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 122,878,588 (GRCm38) |
T1161A |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,485,519 (GRCm38) |
L102P |
probably damaging |
Het |
| Naip2 |
G |
A |
13: 100,152,560 (GRCm38) |
L1165F |
probably damaging |
Het |
| Nfkbiz |
A |
G |
16: 55,819,641 (GRCm38) |
S118P |
probably damaging |
Het |
| Nkx3-2 |
T |
A |
5: 41,761,848 (GRCm38) |
M266L |
probably benign |
Het |
| Npr1 |
T |
C |
3: 90,457,002 (GRCm38) |
E771G |
probably benign |
Het |
| Obox8 |
C |
T |
7: 14,332,029 (GRCm38) |
R188H |
probably benign |
Het |
| Olfr187 |
A |
T |
16: 59,036,143 (GRCm38) |
V198D |
possibly damaging |
Het |
| Olfr497 |
T |
A |
7: 108,423,402 (GRCm38) |
V277E |
possibly damaging |
Het |
| Palm3 |
T |
C |
8: 84,021,530 (GRCm38) |
|
probably null |
Het |
| Palmd |
A |
T |
3: 116,923,849 (GRCm38) |
V333D |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,267,829 (GRCm38) |
E1747G |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,454,941 (GRCm38) |
I1084V |
possibly damaging |
Het |
| Ranbp3l |
T |
A |
15: 9,007,203 (GRCm38) |
F127I |
probably benign |
Het |
| Rsl1d1 |
A |
G |
16: 11,201,384 (GRCm38) |
F97L |
possibly damaging |
Het |
| Scaper |
A |
G |
9: 55,864,546 (GRCm38) |
V362A |
probably benign |
Het |
| Scg5 |
A |
T |
2: 113,776,865 (GRCm38) |
L192* |
probably null |
Het |
| Slc34a2 |
T |
C |
5: 53,061,434 (GRCm38) |
I198T |
probably damaging |
Het |
| Slc45a3 |
T |
A |
1: 131,978,194 (GRCm38) |
D318E |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 42,106,516 (GRCm38) |
M105T |
possibly damaging |
Het |
| St3gal5 |
T |
A |
6: 72,149,131 (GRCm38) |
I320N |
probably damaging |
Het |
| Stx17 |
A |
G |
4: 48,183,470 (GRCm38) |
|
probably benign |
Het |
| Syt5 |
C |
T |
7: 4,541,075 (GRCm38) |
|
probably null |
Het |
| Thrap3 |
A |
G |
4: 126,167,640 (GRCm38) |
S774P |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,993,206 (GRCm38) |
M1376K |
probably benign |
Het |
| Tnks1bp1 |
T |
A |
2: 85,062,754 (GRCm38) |
D1008E |
probably benign |
Het |
| Trav7-1 |
G |
T |
14: 52,655,304 (GRCm38) |
A105S |
probably damaging |
Het |
| Vmn1r28 |
T |
A |
6: 58,265,964 (GRCm38) |
V264D |
probably damaging |
Het |
| Vmn1r44 |
T |
C |
6: 89,893,839 (GRCm38) |
V46A |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 108,995,720 (GRCm38) |
I788T |
probably damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,920,124 (GRCm38) |
I75N |
probably damaging |
Het |
| Zfp821 |
T |
C |
8: 109,724,359 (GRCm38) |
M328T |
probably damaging |
Het |
| Zfp995 |
G |
A |
17: 21,880,623 (GRCm38) |
P210L |
possibly damaging |
Het |
|
| Other mutations in Mlh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Mlh1
|
APN |
9 |
111,252,912 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL02530:Mlh1
|
APN |
9 |
111,229,875 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02811:Mlh1
|
APN |
9 |
111,271,514 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02892:Mlh1
|
APN |
9 |
111,252,969 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03394:Mlh1
|
APN |
9 |
111,268,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
andalusia
|
UTSW |
9 |
111,271,410 (GRCm38) |
makesense |
probably null |
|
|
andalusia2
|
UTSW |
9 |
111,271,523 (GRCm38) |
start codon destroyed |
probably null |
0.93 |
|
andalusia3
|
UTSW |
9 |
111,229,838 (GRCm38) |
critical splice donor site |
probably null |
|
|
ANU23:Mlh1
|
UTSW |
9 |
111,252,912 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
PIT4495001:Mlh1
|
UTSW |
9 |
111,247,260 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0496:Mlh1
|
UTSW |
9 |
111,241,556 (GRCm38) |
missense |
probably benign |
|
|
R0723:Mlh1
|
UTSW |
9 |
111,271,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1395:Mlh1
|
UTSW |
9 |
111,247,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1694:Mlh1
|
UTSW |
9 |
111,228,475 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1762:Mlh1
|
UTSW |
9 |
111,229,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1865:Mlh1
|
UTSW |
9 |
111,257,024 (GRCm38) |
intron |
probably benign |
|
|
R1885:Mlh1
|
UTSW |
9 |
111,258,556 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1992:Mlh1
|
UTSW |
9 |
111,228,563 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2186:Mlh1
|
UTSW |
9 |
111,258,566 (GRCm38) |
unclassified |
probably benign |
|
|
R2680:Mlh1
|
UTSW |
9 |
111,236,017 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4693:Mlh1
|
UTSW |
9 |
111,255,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4784:Mlh1
|
UTSW |
9 |
111,239,798 (GRCm38) |
missense |
probably benign |
|
|
R5007:Mlh1
|
UTSW |
9 |
111,271,410 (GRCm38) |
makesense |
probably null |
|
|
R5130:Mlh1
|
UTSW |
9 |
111,229,838 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5166:Mlh1
|
UTSW |
9 |
111,241,513 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5481:Mlh1
|
UTSW |
9 |
111,229,837 (GRCm38) |
splice site |
probably null |
|
|
R5483:Mlh1
|
UTSW |
9 |
111,231,058 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5602:Mlh1
|
UTSW |
9 |
111,252,878 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5658:Mlh1
|
UTSW |
9 |
111,247,380 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5890:Mlh1
|
UTSW |
9 |
111,228,495 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6810:Mlh1
|
UTSW |
9 |
111,241,558 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R7607:Mlh1
|
UTSW |
9 |
111,229,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7753:Mlh1
|
UTSW |
9 |
111,252,863 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7894:Mlh1
|
UTSW |
9 |
111,230,077 (GRCm38) |
splice site |
probably null |
|
|
R7912:Mlh1
|
UTSW |
9 |
111,261,513 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7995:Mlh1
|
UTSW |
9 |
111,235,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8097:Mlh1
|
UTSW |
9 |
111,256,092 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8280:Mlh1
|
UTSW |
9 |
111,249,218 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8804:Mlh1
|
UTSW |
9 |
111,264,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9562:Mlh1
|
UTSW |
9 |
111,230,945 (GRCm38) |
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 |
Incidental Mutation