Incidental Mutation 'R7674:Msh3'
| ID |
592393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, D13Em1, Rep-3 |
| MMRRC Submission |
045744-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R7674 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 92349011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1074
(V1074L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000190761]
[ENSMUST00000191550]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: V1073L
| 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: V1074L
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: V1074L
| 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 |
silent
Transcript: ENSMUST00000190761
|
| SMART Domains |
Protein: ENSMUSP00000140402
Gene: ENSMUSG00000014850
| Domain | Start | End | E-Value | Type |
|---|
|
MUTSac
|
1 |
128 |
2.3e-31 |
SMART |
|
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (58/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,110,123 (GRCm39) |
I607F |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,848,899 (GRCm39) |
D559E |
probably damaging |
Het |
| Abl1 |
T |
C |
2: 31,579,841 (GRCm39) |
V8A |
possibly damaging |
Het |
| Alkal1 |
A |
T |
1: 6,459,712 (GRCm39) |
Y96F |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,031,435 (GRCm39) |
C352S |
possibly damaging |
Het |
| B4galnt3 |
G |
T |
6: 120,192,166 (GRCm39) |
D523E |
probably benign |
Het |
| Cadps |
C |
A |
14: 12,411,581 (GRCm38) |
E1258D |
probably damaging |
Het |
| Carmil2 |
A |
T |
8: 106,423,918 (GRCm39) |
Q1257L |
possibly damaging |
Het |
| Cars1 |
A |
G |
7: 143,140,840 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
T |
12: 100,911,491 (GRCm39) |
A781E |
probably benign |
Het |
| Ccr10 |
A |
T |
11: 101,065,475 (GRCm39) |
D18E |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,045,071 (GRCm39) |
|
probably benign |
Het |
| Ces5a |
C |
A |
8: 94,240,897 (GRCm39) |
R400L |
probably damaging |
Het |
| Clcn6 |
C |
T |
4: 148,097,151 (GRCm39) |
V636M |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,558,546 (GRCm39) |
L1206H |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,264,621 (GRCm39) |
N333K |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,535,098 (GRCm39) |
I2355L |
probably benign |
Het |
| Dok4 |
T |
C |
8: 95,593,190 (GRCm39) |
Y165C |
probably damaging |
Het |
| Dpy19l3 |
A |
C |
7: 35,394,734 (GRCm39) |
D601E |
probably damaging |
Het |
| Egr3 |
G |
A |
14: 70,315,526 (GRCm39) |
|
probably null |
Het |
| Elapor1 |
T |
G |
3: 108,370,307 (GRCm39) |
R698S |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,792,075 (GRCm39) |
Q231R |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,113,394 (GRCm39) |
K1432R |
probably benign |
Het |
| Fbxw8 |
A |
T |
5: 118,263,036 (GRCm39) |
C214* |
probably null |
Het |
| Gm45861 |
A |
C |
8: 28,030,147 (GRCm39) |
Y821S |
unknown |
Het |
| Gm5519 |
G |
C |
19: 33,802,428 (GRCm39) |
G157A |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,104,495 (GRCm39) |
S641P |
probably damaging |
Het |
| Ighv6-6 |
T |
A |
12: 114,398,837 (GRCm39) |
I10L |
probably benign |
Het |
| Jmy |
C |
T |
13: 93,579,107 (GRCm39) |
R675Q |
probably damaging |
Het |
| Kif14 |
C |
T |
1: 136,396,558 (GRCm39) |
T288I |
probably damaging |
Het |
| Kpna3 |
A |
T |
14: 61,605,086 (GRCm39) |
N520K |
probably benign |
Het |
| Lonp2 |
A |
T |
8: 87,392,386 (GRCm39) |
Q484L |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 42,542,921 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
A |
T |
19: 12,438,751 (GRCm39) |
M70L |
probably benign |
Het |
| Muc6 |
A |
T |
7: 141,224,247 (GRCm39) |
L1645Q |
unknown |
Het |
| Nipbl |
C |
T |
15: 8,322,585 (GRCm39) |
V2609I |
probably benign |
Het |
| Nucks1 |
C |
A |
1: 131,858,844 (GRCm39) |
T202N |
probably benign |
Het |
| Or10al3 |
A |
G |
17: 38,011,573 (GRCm39) |
N4S |
probably benign |
Het |
| Or4c127 |
A |
T |
2: 89,833,389 (GRCm39) |
Y213F |
probably damaging |
Het |
| Or4e2 |
A |
G |
14: 52,687,899 (GRCm39) |
T10A |
probably benign |
Het |
| Or5m12 |
A |
C |
2: 85,734,880 (GRCm39) |
F173V |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
| Plekha2 |
A |
G |
8: 25,547,314 (GRCm39) |
S257P |
probably damaging |
Het |
| Pnlip |
G |
C |
19: 58,663,586 (GRCm39) |
G187A |
possibly damaging |
Het |
| Pramel22 |
T |
A |
4: 143,382,175 (GRCm39) |
K174* |
probably null |
Het |
| Rasgrf2 |
C |
T |
13: 92,267,914 (GRCm39) |
S30N |
possibly damaging |
Het |
| Rho |
G |
T |
6: 115,909,294 (GRCm39) |
C110F |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
A |
G |
10: 22,569,893 (GRCm39) |
D528G |
probably damaging |
Het |
| Sorcs2 |
G |
A |
5: 36,555,296 (GRCm39) |
R32C |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Srp72 |
A |
T |
5: 77,122,673 (GRCm39) |
N35Y |
probably damaging |
Het |
| Tm2d2 |
C |
A |
8: 25,508,280 (GRCm39) |
Y141* |
probably null |
Het |
| Tor3a |
G |
A |
1: 156,483,478 (GRCm39) |
H315Y |
possibly damaging |
Het |
| Usp17la |
A |
T |
7: 104,510,654 (GRCm39) |
K420* |
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,016,321 (GRCm39) |
W262R |
probably benign |
Het |
| Yipf7 |
A |
T |
5: 69,676,572 (GRCm39) |
V189D |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,465,370 (GRCm39) |
M462L |
possibly damaging |
Het |
| Zc3h18 |
AGG |
AG |
8: 123,110,295 (GRCm39) |
|
probably null |
Het |
| Zfp930 |
A |
T |
8: 69,681,337 (GRCm39) |
H344L |
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 |
|
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 |
|
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'- GCAGAAGCCATCTCAAAAGG -3'
(R):5'- CCTGCAGGCACCATTTTAGAAG -3'
Sequencing Primer
(F):5'- GCAGAAGCCATCTCAAAAGGAAGAC -3'
(R):5'- GCACCATTTTAGAAGGCGGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation