Incidental Mutation 'IGL02711:Msh3'
ID |
304564 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Msh3
|
Ensembl Gene |
ENSMUSG00000014850 |
Gene Name |
mutS homolog 3 |
Synonyms |
Rep3, D13Em1, Rep-3 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
IGL02711
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92487819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 133
(T133A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139622
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022218]
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000187424]
[ENSMUST00000190393]
[ENSMUST00000191550]
[ENSMUST00000187874]
[ENSMUST00000191509]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022218
|
SMART Domains |
Protein: ENSMUSP00000022218 Gene: ENSMUSG00000021707
Domain | Start | End | E-Value | Type |
Pfam:DHFR_1
|
4 |
185 |
3.9e-37 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022220
AA Change: T133A
PolyPhen 2
Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000022220 Gene: ENSMUSG00000014850 AA Change: T133A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
Pfam:MutS_I
|
188 |
301 |
1.6e-35 |
PFAM |
Pfam:MutS_II
|
324 |
481 |
2.2e-36 |
PFAM |
MUTSd
|
513 |
828 |
7.62e-97 |
SMART |
MUTSac
|
847 |
1049 |
9.7e-122 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185852
AA Change: T133A
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000140002 Gene: ENSMUSG00000014850 AA Change: T133A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
Pfam:MutS_I
|
188 |
301 |
7.2e-35 |
PFAM |
Pfam:MutS_II
|
324 |
481 |
2.2e-36 |
PFAM |
MUTSd
|
513 |
828 |
7.62e-97 |
SMART |
MUTSac
|
847 |
1049 |
9.7e-122 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186878
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187424
AA Change: T133A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139622 Gene: ENSMUSG00000014850 AA Change: T133A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187831
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190393
AA Change: T133A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141163 Gene: ENSMUSG00000014850 AA Change: T133A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
Pfam:MutS_I
|
188 |
241 |
6.4e-10 |
PFAM |
low complexity region
|
261 |
285 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000191550
|
SMART Domains |
Protein: ENSMUSP00000140659 Gene: ENSMUSG00000014850
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187874
|
SMART Domains |
Protein: ENSMUSP00000139620 Gene: ENSMUSG00000014850
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191509
|
SMART Domains |
Protein: ENSMUSP00000141158 Gene: ENSMUSG00000014850
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit a partial defect mismatch repair and development of intestinal tumors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
T |
5: 8,773,245 (GRCm39) |
|
probably null |
Het |
Adamts10 |
T |
A |
17: 33,757,246 (GRCm39) |
M400K |
probably damaging |
Het |
Adamts17 |
G |
A |
7: 66,701,788 (GRCm39) |
|
probably benign |
Het |
Adh5 |
A |
G |
3: 138,160,434 (GRCm39) |
K323E |
probably damaging |
Het |
Angptl2 |
T |
C |
2: 33,118,255 (GRCm39) |
W10R |
probably benign |
Het |
Arhgap15 |
T |
C |
2: 44,006,674 (GRCm39) |
F264L |
possibly damaging |
Het |
Atp6v1g3 |
T |
A |
1: 138,211,419 (GRCm39) |
L33Q |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,747,849 (GRCm39) |
|
probably benign |
Het |
Capn11 |
A |
G |
17: 45,943,341 (GRCm39) |
F611S |
probably damaging |
Het |
Cep152 |
T |
A |
2: 125,405,862 (GRCm39) |
T1557S |
possibly damaging |
Het |
Cep76 |
A |
T |
18: 67,771,406 (GRCm39) |
S75R |
probably benign |
Het |
Cps1 |
A |
G |
1: 67,251,676 (GRCm39) |
|
probably benign |
Het |
Dbf4 |
G |
T |
5: 8,458,235 (GRCm39) |
A199E |
probably benign |
Het |
Gldc |
C |
T |
19: 30,122,546 (GRCm39) |
|
probably null |
Het |
Hspa14 |
G |
A |
2: 3,503,557 (GRCm39) |
A117V |
probably benign |
Het |
Igkv4-80 |
G |
A |
6: 68,993,801 (GRCm39) |
P30L |
probably damaging |
Het |
Itga2b |
A |
T |
11: 102,356,551 (GRCm39) |
W292R |
possibly damaging |
Het |
Kansl1 |
A |
T |
11: 104,226,401 (GRCm39) |
S982T |
probably damaging |
Het |
Klhdc7b |
A |
T |
15: 89,272,246 (GRCm39) |
K1043* |
probably null |
Het |
Kmt2a |
A |
T |
9: 44,735,820 (GRCm39) |
|
probably benign |
Het |
Krt86 |
T |
C |
15: 101,371,543 (GRCm39) |
Y38H |
probably damaging |
Het |
Lingo4 |
T |
C |
3: 94,310,700 (GRCm39) |
I546T |
probably benign |
Het |
Lrrk1 |
A |
G |
7: 65,980,515 (GRCm39) |
S222P |
probably damaging |
Het |
Lrrk2 |
T |
C |
15: 91,570,025 (GRCm39) |
V178A |
possibly damaging |
Het |
Maml2 |
T |
C |
9: 13,531,359 (GRCm39) |
V191A |
probably benign |
Het |
Nck1 |
T |
C |
9: 100,390,673 (GRCm39) |
D12G |
probably damaging |
Het |
Nox4 |
T |
C |
7: 87,046,076 (GRCm39) |
Y572H |
probably damaging |
Het |
Nqo1 |
A |
T |
8: 108,119,563 (GRCm39) |
L30Q |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,261,083 (GRCm39) |
V30E |
probably damaging |
Het |
Oxr1 |
A |
G |
15: 41,517,067 (GRCm39) |
|
probably benign |
Het |
Pcare |
T |
C |
17: 72,056,377 (GRCm39) |
D1100G |
probably benign |
Het |
Pcdhb10 |
A |
C |
18: 37,545,779 (GRCm39) |
D285A |
possibly damaging |
Het |
Pclo |
A |
G |
5: 14,572,322 (GRCm39) |
N569S |
unknown |
Het |
Ppfibp1 |
T |
A |
6: 146,927,736 (GRCm39) |
Y794* |
probably null |
Het |
Ripor3 |
T |
G |
2: 167,848,200 (GRCm39) |
|
probably benign |
Het |
Rpe65 |
C |
A |
3: 159,328,514 (GRCm39) |
H441N |
possibly damaging |
Het |
St14 |
A |
G |
9: 31,001,196 (GRCm39) |
V845A |
probably benign |
Het |
Tmem116 |
T |
A |
5: 121,625,804 (GRCm39) |
|
probably benign |
Het |
Tnfrsf11b |
A |
T |
15: 54,119,532 (GRCm39) |
D147E |
probably benign |
Het |
Ttn |
C |
A |
2: 76,560,466 (GRCm39) |
G27566* |
probably null |
Het |
Zscan18 |
G |
T |
7: 12,509,044 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Msh3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00895:Msh3
|
APN |
13 |
92,481,472 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00983:Msh3
|
APN |
13 |
92,436,785 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01490:Msh3
|
APN |
13 |
92,436,813 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02072:Msh3
|
APN |
13 |
92,436,803 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02313:Msh3
|
APN |
13 |
92,485,820 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03108:Msh3
|
APN |
13 |
92,357,596 (GRCm39) |
splice site |
probably benign |
|
IGL03227:Msh3
|
APN |
13 |
92,422,468 (GRCm39) |
missense |
probably damaging |
0.98 |
R0164:Msh3
|
UTSW |
13 |
92,485,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R0164:Msh3
|
UTSW |
13 |
92,485,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R0415:Msh3
|
UTSW |
13 |
92,483,294 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0457:Msh3
|
UTSW |
13 |
92,357,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R0659:Msh3
|
UTSW |
13 |
92,481,604 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0661:Msh3
|
UTSW |
13 |
92,481,604 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0686:Msh3
|
UTSW |
13 |
92,487,939 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0688:Msh3
|
UTSW |
13 |
92,487,939 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0707:Msh3
|
UTSW |
13 |
92,483,848 (GRCm39) |
nonsense |
probably null |
|
R1605:Msh3
|
UTSW |
13 |
92,436,783 (GRCm39) |
missense |
probably null |
1.00 |
R1622:Msh3
|
UTSW |
13 |
92,481,462 (GRCm39) |
critical splice donor site |
probably null |
|
R1771:Msh3
|
UTSW |
13 |
92,349,004 (GRCm39) |
missense |
probably benign |
0.05 |
R1970:Msh3
|
UTSW |
13 |
92,386,328 (GRCm39) |
splice site |
probably benign |
|
R1971:Msh3
|
UTSW |
13 |
92,386,328 (GRCm39) |
splice site |
probably benign |
|
R1971:Msh3
|
UTSW |
13 |
92,359,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R2894:Msh3
|
UTSW |
13 |
92,478,868 (GRCm39) |
missense |
probably benign |
0.16 |
R3837:Msh3
|
UTSW |
13 |
92,491,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R4119:Msh3
|
UTSW |
13 |
92,490,519 (GRCm39) |
intron |
probably benign |
|
R4225:Msh3
|
UTSW |
13 |
92,422,431 (GRCm39) |
missense |
probably benign |
0.03 |
R4881:Msh3
|
UTSW |
13 |
92,402,549 (GRCm39) |
intron |
probably benign |
|
R5118:Msh3
|
UTSW |
13 |
92,445,942 (GRCm39) |
splice site |
probably benign |
|
R5209:Msh3
|
UTSW |
13 |
92,481,462 (GRCm39) |
critical splice donor site |
probably null |
|
R5817:Msh3
|
UTSW |
13 |
92,422,508 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5849:Msh3
|
UTSW |
13 |
92,386,386 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5851:Msh3
|
UTSW |
13 |
92,352,030 (GRCm39) |
missense |
probably benign |
0.00 |
R5940:Msh3
|
UTSW |
13 |
92,386,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R6004:Msh3
|
UTSW |
13 |
92,478,922 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6363:Msh3
|
UTSW |
13 |
92,349,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R6510:Msh3
|
UTSW |
13 |
92,489,772 (GRCm39) |
nonsense |
probably null |
|
R6654:Msh3
|
UTSW |
13 |
92,481,550 (GRCm39) |
missense |
probably benign |
0.01 |
R6853:Msh3
|
UTSW |
13 |
92,449,080 (GRCm39) |
critical splice donor site |
probably null |
|
R7022:Msh3
|
UTSW |
13 |
92,372,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R7098:Msh3
|
UTSW |
13 |
92,410,619 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7103:Msh3
|
UTSW |
13 |
92,411,308 (GRCm39) |
missense |
probably benign |
|
R7148:Msh3
|
UTSW |
13 |
92,491,330 (GRCm39) |
missense |
probably benign |
0.18 |
R7171:Msh3
|
UTSW |
13 |
92,485,806 (GRCm39) |
missense |
probably benign |
0.00 |
R7317:Msh3
|
UTSW |
13 |
92,422,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R7369:Msh3
|
UTSW |
13 |
92,435,770 (GRCm39) |
missense |
probably benign |
0.15 |
R7586:Msh3
|
UTSW |
13 |
92,485,840 (GRCm39) |
utr 3 prime |
probably benign |
|
R7641:Msh3
|
UTSW |
13 |
92,349,011 (GRCm39) |
missense |
probably benign |
0.08 |
R7648:Msh3
|
UTSW |
13 |
92,410,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R7674:Msh3
|
UTSW |
13 |
92,349,011 (GRCm39) |
missense |
probably benign |
0.08 |
R8125:Msh3
|
UTSW |
13 |
92,435,690 (GRCm39) |
missense |
probably benign |
|
R8252:Msh3
|
UTSW |
13 |
92,357,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R8388:Msh3
|
UTSW |
13 |
92,359,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R8442:Msh3
|
UTSW |
13 |
92,349,020 (GRCm39) |
missense |
probably benign |
0.00 |
R8735:Msh3
|
UTSW |
13 |
92,411,374 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8986:Msh3
|
UTSW |
13 |
92,483,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R9264:Msh3
|
UTSW |
13 |
92,485,812 (GRCm39) |
missense |
probably benign |
0.00 |
R9326:Msh3
|
UTSW |
13 |
92,400,307 (GRCm39) |
missense |
probably benign |
0.15 |
R9457:Msh3
|
UTSW |
13 |
92,481,594 (GRCm39) |
missense |
probably benign |
0.04 |
R9459:Msh3
|
UTSW |
13 |
92,352,047 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9648:Msh3
|
UTSW |
13 |
92,478,757 (GRCm39) |
missense |
probably benign |
0.00 |
S24628:Msh3
|
UTSW |
13 |
92,483,294 (GRCm39) |
missense |
possibly damaging |
0.89 |
X0027:Msh3
|
UTSW |
13 |
92,410,578 (GRCm39) |
missense |
probably damaging |
0.98 |
X0063:Msh3
|
UTSW |
13 |
92,411,293 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |