Incidental Mutation 'R9457:Msh3'
| ID |
714678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, Rep-3, D13Em1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R9457 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
92211872-92355003 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92345086 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 306
(I306N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000187874]
[ENSMUST00000190393]
[ENSMUST00000191509]
[ENSMUST00000191550]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: I306N
| 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: I306N
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: I306N
| 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: ENSMUST00000190393
|
| SMART Domains |
Protein: ENSMUSP00000141163
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 |
241 |
6.4e-10 |
PFAM |
|
low complexity region
|
261 |
285 |
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 |
|
| 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: 99.1%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110002H16Rik |
A |
G |
18: 12,179,246 (GRCm38) |
H181R |
probably benign |
Het |
| 4930404N11Rik |
C |
A |
10: 81,365,777 (GRCm38) |
V4L |
probably benign |
Het |
| 4930430A15Rik |
A |
T |
2: 111,170,286 (GRCm38) |
M196K |
unknown |
Het |
| 4932415D10Rik |
A |
G |
10: 82,286,739 (GRCm38) |
V3479A |
probably benign |
Het |
| A930009A15Rik |
T |
C |
10: 115,578,331 (GRCm38) |
L54P |
unknown |
Het |
| Ablim3 |
A |
G |
18: 61,845,849 (GRCm38) |
S204P |
probably benign |
Het |
| Acadl |
A |
G |
1: 66,853,241 (GRCm38) |
V141A |
probably benign |
Het |
| Ace3 |
A |
G |
11: 105,994,861 (GRCm38) |
D31G |
probably benign |
Het |
| Adam11 |
T |
G |
11: 102,769,898 (GRCm38) |
V85G |
probably benign |
Het |
| Adarb1 |
A |
T |
10: 77,322,148 (GRCm38) |
M155K |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 77,384,786 (GRCm38) |
T376M |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,821,967 (GRCm38) |
T668K |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,841,631 (GRCm38) |
E717G |
probably damaging |
Het |
| Cdh17 |
T |
A |
4: 11,771,329 (GRCm38) |
I37N |
probably damaging |
Het |
| Cfap99 |
T |
G |
5: 34,301,397 (GRCm38) |
F45L |
probably benign |
Het |
| Chsy1 |
C |
A |
7: 66,172,400 (GRCm38) |
H794Q |
probably benign |
Het |
| Clec4a3 |
G |
A |
6: 122,954,086 (GRCm38) |
V45I |
probably benign |
Het |
| Clic3 |
G |
A |
2: 25,457,718 (GRCm38) |
V32I |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,502,730 (GRCm38) |
D740E |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,386,844 (GRCm38) |
V1062I |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,392,813 (GRCm38) |
|
probably null |
Het |
| Cyp2j11 |
C |
T |
4: 96,307,359 (GRCm38) |
V367I |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 35,682,758 (GRCm38) |
A821T |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,950,793 (GRCm38) |
E107K |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,959,694 (GRCm38) |
V484A |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,161,127 (GRCm38) |
T354A |
probably benign |
Het |
| Fkbp6 |
T |
C |
5: 135,349,632 (GRCm38) |
D54G |
probably benign |
Het |
| Gm4787 |
T |
A |
12: 81,379,246 (GRCm38) |
E46V |
probably damaging |
Het |
| Gm47995 |
A |
G |
1: 151,198,475 (GRCm38) |
T10A |
possibly damaging |
Het |
| Gm498 |
T |
C |
7: 143,883,976 (GRCm38) |
V137A |
possibly damaging |
Het |
| Gnb1l |
T |
A |
16: 18,540,995 (GRCm38) |
I50N |
probably damaging |
Het |
| Gphb5 |
A |
T |
12: 75,415,749 (GRCm38) |
V22D |
probably damaging |
Het |
| Gstt4 |
C |
T |
10: 75,815,125 (GRCm38) |
C221Y |
probably benign |
Het |
| Hmces |
T |
C |
6: 87,933,274 (GRCm38) |
V222A |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,373,782 (GRCm38) |
D62E |
probably benign |
Het |
| Kcnmb2 |
T |
A |
3: 32,181,869 (GRCm38) |
V89E |
probably benign |
Het |
| Kif23 |
T |
A |
9: 61,944,225 (GRCm38) |
N63I |
probably benign |
Het |
| Lamc2 |
T |
C |
1: 153,139,854 (GRCm38) |
M578V |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,789,153 (GRCm38) |
C1335S |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,687,745 (GRCm38) |
E2622G |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,384,674 (GRCm38) |
H47L |
probably benign |
Het |
| Micalcl |
A |
G |
7: 112,411,458 (GRCm38) |
K618R |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,665,760 (GRCm38) |
I92T |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,676,184 (GRCm38) |
I223V |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,095,209 (GRCm38) |
S35T |
probably benign |
Het |
| Nfkbiz |
A |
T |
16: 55,813,984 (GRCm38) |
V700E |
probably damaging |
Het |
| Oit3 |
T |
A |
10: 59,441,683 (GRCm38) |
M1L |
unknown |
Het |
| Olfr1048 |
A |
T |
2: 86,236,472 (GRCm38) |
I114K |
probably damaging |
Het |
| Olfr1231 |
A |
T |
2: 89,302,731 (GRCm38) |
I287N |
probably damaging |
Het |
| Olfr606 |
T |
A |
7: 103,451,411 (GRCm38) |
F25I |
probably benign |
Het |
| Peg3 |
T |
G |
7: 6,707,999 (GRCm38) |
D1408A |
probably damaging |
Het |
| Plaa |
A |
C |
4: 94,586,883 (GRCm38) |
S201R |
possibly damaging |
Het |
| Psmd5 |
A |
G |
2: 34,854,326 (GRCm38) |
S395P |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,334,554 (GRCm38) |
I1701V |
probably damaging |
Het |
| Rnf32 |
G |
A |
5: 29,206,186 (GRCm38) |
A157T |
probably damaging |
Het |
| Rrad |
T |
A |
8: 104,629,727 (GRCm38) |
|
probably null |
Het |
| Samm50 |
T |
A |
15: 84,207,841 (GRCm38) |
L339Q |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,104,958 (GRCm38) |
E212G |
possibly damaging |
Het |
| Scrib |
T |
C |
15: 76,067,299 (GRCm38) |
D146G |
probably damaging |
Het |
| Slc19a1 |
G |
A |
10: 77,049,771 (GRCm38) |
D502N |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,214,573 (GRCm38) |
S839P |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,806,260 (GRCm38) |
D764G |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,681,765 (GRCm38) |
A590V |
probably damaging |
Het |
| Slfn8 |
G |
T |
11: 83,017,706 (GRCm38) |
H4N |
probably benign |
Het |
| Smad9 |
T |
A |
3: 54,789,335 (GRCm38) |
F274I |
possibly damaging |
Het |
| Snx4 |
A |
G |
16: 33,286,010 (GRCm38) |
E271G |
probably benign |
Het |
| Thap4 |
G |
A |
1: 93,750,306 (GRCm38) |
R253* |
probably null |
Het |
| Tmem65 |
T |
A |
15: 58,790,179 (GRCm38) |
I144F |
|
Het |
| Tnrc6a |
G |
A |
7: 123,179,735 (GRCm38) |
R1223Q |
probably benign |
Het |
| Traf7 |
CA |
CAA |
17: 24,527,763 (GRCm38) |
|
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,911,392 (GRCm38) |
Y1424C |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,826,668 (GRCm38) |
Y2457N |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,024,523 (GRCm38) |
S251P |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,456,012 (GRCm38) |
E273V |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 33,962,182 (GRCm38) |
D466G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,515,632 (GRCm38) |
V2739A |
probably benign |
Het |
| Zc3h4 |
C |
T |
7: 16,434,750 (GRCm38) |
S1003F |
unknown |
Het |
| Zyg11a |
A |
T |
4: 108,217,905 (GRCm38) |
H6Q |
probably damaging |
Het |
|
| Other mutations in Msh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00895:Msh3
|
APN |
13 |
92,344,964 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00983:Msh3
|
APN |
13 |
92,300,277 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01490:Msh3
|
APN |
13 |
92,300,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02072:Msh3
|
APN |
13 |
92,300,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02313:Msh3
|
APN |
13 |
92,349,312 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL02711:Msh3
|
APN |
13 |
92,351,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03108:Msh3
|
APN |
13 |
92,221,088 (GRCm38) |
splice site |
probably benign |
|
|
IGL03227:Msh3
|
APN |
13 |
92,285,960 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0164:Msh3
|
UTSW |
13 |
92,349,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0164:Msh3
|
UTSW |
13 |
92,349,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0415:Msh3
|
UTSW |
13 |
92,346,786 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0457:Msh3
|
UTSW |
13 |
92,220,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0659:Msh3
|
UTSW |
13 |
92,345,096 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0661:Msh3
|
UTSW |
13 |
92,345,096 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0686:Msh3
|
UTSW |
13 |
92,351,431 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0688:Msh3
|
UTSW |
13 |
92,351,431 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0707:Msh3
|
UTSW |
13 |
92,347,340 (GRCm38) |
nonsense |
probably null |
|
|
R1605:Msh3
|
UTSW |
13 |
92,300,275 (GRCm38) |
missense |
probably null |
1.00 |
|
R1622:Msh3
|
UTSW |
13 |
92,344,954 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1771:Msh3
|
UTSW |
13 |
92,212,496 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1970:Msh3
|
UTSW |
13 |
92,249,820 (GRCm38) |
splice site |
probably benign |
|
|
R1971:Msh3
|
UTSW |
13 |
92,249,820 (GRCm38) |
splice site |
probably benign |
|
|
R1971:Msh3
|
UTSW |
13 |
92,223,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2894:Msh3
|
UTSW |
13 |
92,342,360 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3837:Msh3
|
UTSW |
13 |
92,354,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4119:Msh3
|
UTSW |
13 |
92,354,011 (GRCm38) |
intron |
probably benign |
|
|
R4225:Msh3
|
UTSW |
13 |
92,285,923 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4881:Msh3
|
UTSW |
13 |
92,266,041 (GRCm38) |
intron |
probably benign |
|
|
R5118:Msh3
|
UTSW |
13 |
92,309,434 (GRCm38) |
splice site |
probably benign |
|
|
R5209:Msh3
|
UTSW |
13 |
92,344,954 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5817:Msh3
|
UTSW |
13 |
92,286,000 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5849:Msh3
|
UTSW |
13 |
92,249,878 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5851:Msh3
|
UTSW |
13 |
92,215,522 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5940:Msh3
|
UTSW |
13 |
92,249,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6004:Msh3
|
UTSW |
13 |
92,342,414 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6363:Msh3
|
UTSW |
13 |
92,212,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6510:Msh3
|
UTSW |
13 |
92,353,264 (GRCm38) |
nonsense |
probably null |
|
|
R6654:Msh3
|
UTSW |
13 |
92,345,042 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6853:Msh3
|
UTSW |
13 |
92,312,572 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7022:Msh3
|
UTSW |
13 |
92,235,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7098:Msh3
|
UTSW |
13 |
92,274,111 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7103:Msh3
|
UTSW |
13 |
92,274,800 (GRCm38) |
missense |
probably benign |
|
|
R7148:Msh3
|
UTSW |
13 |
92,354,822 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7171:Msh3
|
UTSW |
13 |
92,349,298 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7317:Msh3
|
UTSW |
13 |
92,286,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7369:Msh3
|
UTSW |
13 |
92,299,262 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7586:Msh3
|
UTSW |
13 |
92,349,332 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R7641:Msh3
|
UTSW |
13 |
92,212,503 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7648:Msh3
|
UTSW |
13 |
92,274,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7674:Msh3
|
UTSW |
13 |
92,212,503 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8125:Msh3
|
UTSW |
13 |
92,299,182 (GRCm38) |
missense |
probably benign |
|
|
R8252:Msh3
|
UTSW |
13 |
92,221,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8388:Msh3
|
UTSW |
13 |
92,223,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8442:Msh3
|
UTSW |
13 |
92,212,512 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8735:Msh3
|
UTSW |
13 |
92,274,866 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8986:Msh3
|
UTSW |
13 |
92,346,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9264:Msh3
|
UTSW |
13 |
92,349,304 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9326:Msh3
|
UTSW |
13 |
92,263,799 (GRCm38) |
missense |
probably benign |
0.15 |
|
R9459:Msh3
|
UTSW |
13 |
92,215,539 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9648:Msh3
|
UTSW |
13 |
92,342,249 (GRCm38) |
missense |
probably benign |
0.00 |
|
S24628:Msh3
|
UTSW |
13 |
92,346,786 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
X0027:Msh3
|
UTSW |
13 |
92,274,070 (GRCm38) |
missense |
probably damaging |
0.98 |
|
X0063:Msh3
|
UTSW |
13 |
92,274,785 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATCCTCATGACGTACCGC -3'
(R):5'- TAGCCCCTTTGGAATTGAGAAG -3'
Sequencing Primer
(F):5'- CAACGTTGGCACACGAGGTAC -3'
(R):5'- AGATAATAGTTACCTGTCCTTGTACC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation