Incidental Mutation 'R7369:Msh3'
ID |
572030 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Msh3
|
Ensembl Gene |
ENSMUSG00000014850 |
Gene Name |
mutS homolog 3 |
Synonyms |
Rep3, D13Em1, Rep-3 |
MMRRC Submission |
045453-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
R7369 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 92435770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 510
(T510S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000187874]
[ENSMUST00000191550]
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000022220 Gene: ENSMUSG00000014850 AA Change: T510S
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 |
probably benign
Transcript: ENSMUST00000185852
AA Change: T510S
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000140002 Gene: ENSMUSG00000014850 AA Change: T510S
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 |
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: 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (77/77) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L13Rik |
C |
T |
7: 29,989,377 (GRCm39) |
L196F |
unknown |
Het |
Ahr |
A |
T |
12: 35,554,659 (GRCm39) |
W487R |
possibly damaging |
Het |
Apaf1 |
A |
G |
10: 90,836,898 (GRCm39) |
S1060P |
probably damaging |
Het |
Atf7 |
G |
T |
15: 102,462,244 (GRCm39) |
P126H |
probably damaging |
Het |
B3gnt5 |
C |
A |
16: 19,588,410 (GRCm39) |
Q210K |
probably benign |
Het |
Begain |
T |
C |
12: 108,999,853 (GRCm39) |
Y306C |
possibly damaging |
Het |
Car5a |
T |
C |
8: 122,650,573 (GRCm39) |
K157R |
probably benign |
Het |
Car5b |
A |
C |
X: 162,797,836 (GRCm39) |
S35R |
probably benign |
Het |
Cdh6 |
A |
G |
15: 13,042,724 (GRCm39) |
V478A |
probably damaging |
Het |
Cdyl |
A |
G |
13: 35,999,992 (GRCm39) |
E91G |
probably damaging |
Het |
Cep135 |
A |
C |
5: 76,741,100 (GRCm39) |
K59Q |
possibly damaging |
Het |
Clec2m |
T |
A |
6: 129,308,496 (GRCm39) |
Q11L |
possibly damaging |
Het |
Cnot3 |
T |
A |
7: 3,656,330 (GRCm39) |
D205E |
possibly damaging |
Het |
Dgkd |
G |
A |
1: 87,849,344 (GRCm39) |
G379R |
probably damaging |
Het |
Dppa1 |
T |
A |
11: 46,506,944 (GRCm39) |
|
probably null |
Het |
Dsp |
G |
T |
13: 38,381,501 (GRCm39) |
V2749F |
possibly damaging |
Het |
E2f4 |
A |
G |
8: 106,026,966 (GRCm39) |
K177E |
probably benign |
Het |
Efcab5 |
G |
A |
11: 77,008,661 (GRCm39) |
P819L |
possibly damaging |
Het |
Ercc5 |
T |
A |
1: 44,220,020 (GRCm39) |
S1097R |
probably benign |
Het |
Erp44 |
T |
C |
4: 48,218,183 (GRCm39) |
N162S |
probably benign |
Het |
Evl |
A |
G |
12: 108,652,824 (GRCm39) |
Y423C |
unknown |
Het |
Fam78a |
T |
A |
2: 31,959,699 (GRCm39) |
N137I |
probably damaging |
Het |
Fcrl2 |
T |
C |
3: 87,164,008 (GRCm39) |
N374D |
possibly damaging |
Het |
Fcrla |
T |
G |
1: 170,749,886 (GRCm39) |
D57A |
probably benign |
Het |
Gm7145 |
A |
T |
1: 117,913,838 (GRCm39) |
H240L |
probably benign |
Het |
Kdm5a |
T |
A |
6: 120,408,965 (GRCm39) |
N1549K |
possibly damaging |
Het |
Kirrel1 |
C |
T |
3: 87,048,391 (GRCm39) |
R9H |
probably benign |
Het |
Klf7 |
T |
C |
1: 64,160,300 (GRCm39) |
|
probably null |
Het |
Lce1d |
G |
A |
3: 92,593,390 (GRCm39) |
Q8* |
probably null |
Het |
Lcn4 |
T |
C |
2: 26,557,906 (GRCm39) |
H180R |
probably benign |
Het |
Lmntd1 |
T |
A |
6: 145,359,301 (GRCm39) |
Y283F |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,172,051 (GRCm39) |
R1646K |
|
Het |
Map3k21 |
C |
A |
8: 126,637,855 (GRCm39) |
A147E |
possibly damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,338,454 (GRCm39) |
S11P |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,773,375 (GRCm39) |
F5518L |
probably damaging |
Het |
Myh1 |
A |
T |
11: 67,111,524 (GRCm39) |
Q1654H |
probably damaging |
Het |
Ncbp3 |
T |
C |
11: 72,968,747 (GRCm39) |
V506A |
probably benign |
Het |
Nfkbiz |
A |
G |
16: 55,642,209 (GRCm39) |
S70P |
probably damaging |
Het |
Nmi |
T |
C |
2: 51,840,096 (GRCm39) |
D215G |
possibly damaging |
Het |
Nphp3 |
T |
C |
9: 103,895,449 (GRCm39) |
S496P |
probably damaging |
Het |
Nrp1 |
T |
A |
8: 129,158,396 (GRCm39) |
C228S |
probably damaging |
Het |
Or6c5c |
A |
T |
10: 129,299,390 (GRCm39) |
M282L |
probably benign |
Het |
Pcdh9 |
C |
A |
14: 94,123,803 (GRCm39) |
R789L |
possibly damaging |
Het |
Pigr |
A |
T |
1: 130,769,503 (GRCm39) |
T105S |
probably benign |
Het |
Polr2a |
A |
C |
11: 69,636,803 (GRCm39) |
S383A |
probably benign |
Het |
Prr35 |
G |
A |
17: 26,166,934 (GRCm39) |
S201L |
probably damaging |
Het |
Psd3 |
T |
A |
8: 68,356,818 (GRCm39) |
H634L |
possibly damaging |
Het |
Ptgr2 |
T |
G |
12: 84,339,080 (GRCm39) |
|
probably benign |
Het |
Ptk6 |
A |
G |
2: 180,840,254 (GRCm39) |
Y251H |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,321,294 (GRCm39) |
T1251A |
|
Het |
Rtkn2 |
A |
G |
10: 67,877,259 (GRCm39) |
K443E |
probably damaging |
Het |
Rundc3a |
T |
A |
11: 102,290,721 (GRCm39) |
L268Q |
probably damaging |
Het |
Serpinb5 |
A |
G |
1: 106,802,879 (GRCm39) |
E138G |
probably benign |
Het |
Shroom1 |
A |
T |
11: 53,356,075 (GRCm39) |
D375V |
probably benign |
Het |
Siglecf |
A |
G |
7: 43,001,241 (GRCm39) |
T70A |
probably damaging |
Het |
Slc20a2 |
A |
T |
8: 23,051,416 (GRCm39) |
E483V |
probably benign |
Het |
Slc49a3 |
A |
G |
5: 108,593,394 (GRCm39) |
V148A |
probably benign |
Het |
Sort1 |
G |
A |
3: 108,258,996 (GRCm39) |
G676D |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,584,293 (GRCm39) |
S1581G |
probably benign |
Het |
Stx6 |
C |
T |
1: 155,073,130 (GRCm39) |
R214* |
probably null |
Het |
Stxbp5l |
A |
G |
16: 36,954,703 (GRCm39) |
I950T |
probably benign |
Het |
Tdrd7 |
T |
A |
4: 46,013,239 (GRCm39) |
C660S |
possibly damaging |
Het |
Tgm4 |
T |
A |
9: 122,885,749 (GRCm39) |
|
probably null |
Het |
Tmem67 |
T |
C |
4: 12,053,535 (GRCm39) |
Y671C |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,719,717 (GRCm39) |
|
probably null |
Het |
Tut7 |
A |
G |
13: 59,929,867 (GRCm39) |
I1458T |
possibly damaging |
Het |
Uba2 |
A |
G |
7: 33,850,239 (GRCm39) |
S405P |
possibly damaging |
Het |
Usp34 |
T |
C |
11: 23,382,361 (GRCm39) |
I2043T |
|
Het |
Vmn1r12 |
T |
A |
6: 57,136,683 (GRCm39) |
I260N |
possibly damaging |
Het |
Vmn1r172 |
C |
T |
7: 23,360,030 (GRCm39) |
T305I |
unknown |
Het |
Vmn2r24 |
T |
C |
6: 123,792,638 (GRCm39) |
V655A |
probably damaging |
Het |
Wdr33 |
T |
C |
18: 32,019,719 (GRCm39) |
S464P |
probably benign |
Het |
Zfp260 |
T |
A |
7: 29,804,750 (GRCm39) |
C217S |
probably damaging |
Het |
Zfp760 |
A |
G |
17: 21,942,214 (GRCm39) |
E463G |
probably benign |
Het |
Zhx1 |
A |
G |
15: 57,916,696 (GRCm39) |
Y517H |
probably damaging |
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 |
IGL02711:Msh3
|
APN |
13 |
92,487,819 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGTGATCTAATTAGCCATGGCAAC -3'
(R):5'- AACACGTTATTTGGGCATGTG -3'
Sequencing Primer
(F):5'- GGCAACATTAGTTTTAAAGAAGCG -3'
(R):5'- GCATGTGTATTGTTTAAATCAGGC -3'
|
Posted On |
2019-09-13 |