Incidental Mutation 'R4881:Msh3'
| ID |
375296 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4881 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 92402549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000187874]
[ENSMUST00000191550]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022220
|
| SMART Domains |
Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
| 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 |
noncoding transcript
Transcript: ENSMUST00000191304
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (57/57) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,877,472 (GRCm39) |
L1040P |
possibly damaging |
Het |
| Acot11 |
C |
A |
4: 106,612,502 (GRCm39) |
|
probably null |
Het |
| Aldoart2 |
C |
A |
12: 55,612,899 (GRCm39) |
Q275K |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,501,288 (GRCm39) |
T42A |
probably damaging |
Het |
| Bora |
C |
T |
14: 99,299,003 (GRCm39) |
L187F |
probably damaging |
Het |
| Cbln4 |
A |
G |
2: 171,884,059 (GRCm39) |
S54P |
possibly damaging |
Het |
| Celsr3 |
T |
A |
9: 108,721,140 (GRCm39) |
L2661Q |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,946,772 (GRCm39) |
T1313A |
probably damaging |
Het |
| Dbndd2 |
C |
A |
2: 164,332,225 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,746,126 (GRCm39) |
D4G |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,090,348 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,240,478 (GRCm39) |
C1532R |
probably damaging |
Het |
| Erbb3 |
A |
T |
10: 128,412,816 (GRCm39) |
H591Q |
probably benign |
Het |
| Exosc4 |
T |
C |
15: 76,213,770 (GRCm39) |
L198P |
probably damaging |
Het |
| F2r |
A |
T |
13: 95,754,837 (GRCm39) |
C16S |
possibly damaging |
Het |
| Gtf2h4 |
A |
T |
17: 35,981,125 (GRCm39) |
I234N |
possibly damaging |
Het |
| Ift27 |
A |
T |
15: 78,049,448 (GRCm39) |
V84D |
probably damaging |
Het |
| Ints10 |
C |
T |
8: 69,263,256 (GRCm39) |
A389V |
probably benign |
Het |
| Irs1 |
TGGGGTGGACATCGAACTGAAGGAG |
TG |
1: 82,265,453 (GRCm39) |
913 |
probably null |
Het |
| Klrc2 |
T |
A |
6: 129,637,471 (GRCm39) |
T17S |
possibly damaging |
Het |
| Matr3 |
T |
A |
18: 35,705,428 (GRCm39) |
S118T |
probably damaging |
Het |
| Mfsd6l |
C |
T |
11: 68,448,748 (GRCm39) |
A533V |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,191,434 (GRCm39) |
M1103V |
probably benign |
Het |
| Niban2 |
C |
A |
2: 32,812,590 (GRCm39) |
Y446* |
probably null |
Het |
| Or2y1e |
T |
A |
11: 49,219,124 (GRCm39) |
D295E |
probably benign |
Het |
| Or5e1 |
T |
C |
7: 108,354,612 (GRCm39) |
L183P |
probably damaging |
Het |
| Or6z3 |
A |
T |
7: 6,463,753 (GRCm39) |
M82L |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,329,764 (GRCm39) |
D88E |
possibly damaging |
Het |
| Pou1f1 |
C |
T |
16: 65,328,728 (GRCm39) |
T149I |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Pstpip2 |
T |
A |
18: 77,962,032 (GRCm39) |
Y267* |
probably null |
Het |
| Rcor1 |
A |
G |
12: 111,063,986 (GRCm39) |
D95G |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,119,809 (GRCm39) |
L1748P |
probably damaging |
Het |
| Slco2a1 |
A |
G |
9: 102,963,031 (GRCm39) |
K629E |
possibly damaging |
Het |
| Smarcc1 |
A |
G |
9: 109,964,696 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
G |
16: 91,472,397 (GRCm39) |
K360E |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,865,629 (GRCm39) |
M1753K |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,026,593 (GRCm39) |
I3474V |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,133,192 (GRCm39) |
T736S |
possibly damaging |
Het |
| Tmpo |
G |
A |
10: 90,998,503 (GRCm39) |
P428L |
possibly damaging |
Het |
| Tmprss11a |
G |
T |
5: 86,570,432 (GRCm39) |
Q176K |
probably damaging |
Het |
| Trappc4 |
A |
G |
9: 44,315,322 (GRCm39) |
S219P |
probably damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,696,859 (GRCm39) |
P183T |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,598 (GRCm39) |
V432I |
probably benign |
Het |
| Vtcn1 |
G |
A |
3: 100,799,909 (GRCm39) |
G257R |
probably benign |
Het |
| Yipf1 |
T |
A |
4: 107,202,288 (GRCm39) |
M217K |
possibly damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,236,647 (GRCm39) |
S374P |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,577,828 (GRCm39) |
H1095R |
probably benign |
Het |
| Zfp661 |
A |
T |
2: 127,420,564 (GRCm39) |
H78Q |
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,450,849 (GRCm39) |
T317A |
unknown |
Het |
| Zfyve9 |
T |
A |
4: 108,584,688 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTGCTTCAAGACTATAGCTGG -3'
(R):5'- TAAACTGAAGCCTACTGAGGATC -3'
Sequencing Primer
(F):5'- CAAGACTATAGCTGGTACTGGTC -3'
(R):5'- GGATCAGAATTCTTAAGATGCACG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation