Incidental Mutation 'R6810:Mlh1'
| ID |
533766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlh1
|
| Ensembl Gene |
ENSMUSG00000032498 |
| Gene Name |
mutL homolog 1 |
| Synonyms |
1110035C23Rik, colon cancer, nonpolyposis type 2 |
| MMRRC Submission |
044923-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6810 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
111057296-111100854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111070626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 363
(T363M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035079]
[ENSMUST00000135218]
|
| AlphaFold |
Q9JK91 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035079
AA Change: T363M
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035079
Gene: ENSMUSG00000032498
AA Change: T363M
| 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: ENSMUST00000135218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199404
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
96% (53/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg5 |
A |
T |
8: 95,660,570 (GRCm39) |
T70S |
probably damaging |
Het |
| Adora1 |
T |
C |
1: 134,161,777 (GRCm39) |
Y106C |
probably damaging |
Het |
| Aox3 |
T |
A |
1: 58,180,590 (GRCm39) |
N250K |
probably benign |
Het |
| Ap2b1 |
A |
T |
11: 83,226,317 (GRCm39) |
Y238F |
possibly damaging |
Het |
| Birc6 |
G |
A |
17: 74,919,215 (GRCm39) |
S2015N |
possibly damaging |
Het |
| C7 |
A |
G |
15: 5,037,136 (GRCm39) |
F581L |
probably damaging |
Het |
| Cd27 |
A |
T |
6: 125,210,627 (GRCm39) |
H203Q |
probably damaging |
Het |
| Cdk2 |
A |
G |
10: 128,535,456 (GRCm39) |
V274A |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,949,583 (GRCm39) |
T1351A |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,839,523 (GRCm39) |
L1353P |
probably damaging |
Het |
| Dcc |
C |
T |
18: 71,503,764 (GRCm39) |
V945M |
probably damaging |
Het |
| Dio1 |
A |
G |
4: 107,154,922 (GRCm39) |
V118A |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,251,379 (GRCm39) |
T1818M |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,971,672 (GRCm39) |
M165K |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,085,741 (GRCm39) |
I929V |
probably benign |
Het |
| F5 |
T |
A |
1: 164,014,471 (GRCm39) |
S581T |
probably damaging |
Het |
| Fanca |
A |
C |
8: 124,013,216 (GRCm39) |
I761S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,173,067 (GRCm39) |
T2549A |
possibly damaging |
Het |
| Fut2 |
A |
G |
7: 45,299,929 (GRCm39) |
L281P |
probably damaging |
Het |
| Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,779,803 (GRCm39) |
D651G |
probably damaging |
Het |
| Hook3 |
A |
C |
8: 26,522,450 (GRCm39) |
|
probably null |
Het |
| Ivd |
G |
T |
2: 118,700,242 (GRCm39) |
V90L |
probably benign |
Het |
| Klhdc7b |
A |
G |
15: 89,272,559 (GRCm39) |
Y1147C |
possibly damaging |
Het |
| Ndufa3 |
A |
T |
7: 3,622,476 (GRCm39) |
I45F |
probably damaging |
Het |
| Nell2 |
T |
C |
15: 95,139,468 (GRCm39) |
D588G |
probably damaging |
Het |
| Nhlrc3 |
T |
C |
3: 53,360,996 (GRCm39) |
N253S |
probably benign |
Het |
| Nlrp4c |
T |
A |
7: 6,069,754 (GRCm39) |
F552I |
probably damaging |
Het |
| Or51g1 |
A |
C |
7: 102,634,042 (GRCm39) |
S110A |
probably damaging |
Het |
| Or5j3 |
G |
A |
2: 86,128,267 (GRCm39) |
A36T |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,900,232 (GRCm39) |
S355P |
probably benign |
Het |
| Pcdhga7 |
A |
T |
18: 37,848,926 (GRCm39) |
Y311F |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,569,088 (GRCm39) |
|
probably null |
Het |
| Plscr4 |
G |
A |
9: 92,365,889 (GRCm39) |
V120I |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,287,457 (GRCm39) |
V480A |
probably benign |
Het |
| Psrc1 |
A |
T |
3: 108,292,664 (GRCm39) |
K152N |
possibly damaging |
Het |
| Ptcd3 |
A |
C |
6: 71,862,516 (GRCm39) |
V473G |
probably damaging |
Het |
| Rab11fip1 |
ACTCT |
ACT |
8: 27,642,760 (GRCm39) |
|
probably null |
Het |
| Semp2l2b |
C |
T |
10: 21,942,616 (GRCm39) |
G455R |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,805,577 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
G |
9: 64,855,605 (GRCm39) |
V434A |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,668,609 (GRCm39) |
V432E |
probably benign |
Het |
| Syne2 |
C |
T |
12: 75,989,659 (GRCm39) |
T1847M |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tes |
C |
A |
6: 17,104,651 (GRCm39) |
N377K |
probably benign |
Het |
| Tfip11 |
T |
A |
5: 112,481,463 (GRCm39) |
I452N |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,785,016 (GRCm39) |
S658P |
probably benign |
Het |
| Tmx4 |
A |
C |
2: 134,462,594 (GRCm39) |
D112E |
probably damaging |
Het |
| Tnn |
G |
T |
1: 159,932,412 (GRCm39) |
D1367E |
probably damaging |
Het |
| Triobp |
A |
G |
15: 78,850,815 (GRCm39) |
N323S |
possibly damaging |
Het |
| Usp40 |
T |
C |
1: 87,908,755 (GRCm39) |
D582G |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,600,296 (GRCm39) |
K440R |
probably benign |
Het |
| Zfp707 |
T |
A |
15: 75,846,748 (GRCm39) |
L193Q |
probably damaging |
Het |
| Zfp748 |
T |
C |
13: 67,689,844 (GRCm39) |
Y472C |
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 |
|
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 |
|
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'- CCAAGTTCTCACTCTCAGCAGC -3'
(R):5'- GAATGTTCTACTGTGATGTAACTCC -3'
Sequencing Primer
(F):5'- GAGAGCAAGCATCTCCTCGTC -3'
(R):5'- ACTGTGATGTAACTCCATCTGAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation