Incidental Mutation 'R7317:Msh3'
| ID |
563489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, D13Em1, Rep-3 |
| MMRRC Submission |
045369-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
R7317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92422512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 548
(I548T)
|
| 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: I548T
| 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 damaging
Transcript: ENSMUST00000185852
AA Change: I548T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: I548T
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
G |
A |
5: 8,140,202 (GRCm39) |
P832L |
probably benign |
Het |
| Adamts17 |
C |
T |
7: 66,490,304 (GRCm39) |
R129* |
probably null |
Het |
| Alg5 |
G |
T |
3: 54,656,752 (GRCm39) |
R321L |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,486,515 (GRCm39) |
T460S |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,537,332 (GRCm39) |
E7G |
possibly damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,110,776 (GRCm39) |
T1000A |
unknown |
Het |
| Arap2 |
G |
A |
5: 62,807,067 (GRCm39) |
T1200M |
probably damaging |
Het |
| Asb2 |
A |
T |
12: 103,299,616 (GRCm39) |
I272N |
probably damaging |
Het |
| Bicd2 |
T |
C |
13: 49,531,784 (GRCm39) |
L342P |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,206 (GRCm39) |
I214F |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,364,534 (GRCm39) |
H587Q |
probably benign |
Het |
| Cfap70 |
T |
A |
14: 20,450,502 (GRCm39) |
I1010F |
possibly damaging |
Het |
| Chd1 |
A |
T |
17: 15,962,536 (GRCm39) |
K764N |
possibly damaging |
Het |
| Cluh |
A |
G |
11: 74,556,530 (GRCm39) |
D956G |
possibly damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,770,730 (GRCm39) |
D243G |
probably benign |
Het |
| Ercc4 |
T |
C |
16: 12,939,977 (GRCm39) |
V169A |
probably benign |
Het |
| Erich6 |
T |
C |
3: 58,544,305 (GRCm39) |
E94G |
probably benign |
Het |
| Fubp3 |
A |
G |
2: 31,494,624 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
C |
T |
17: 37,380,305 (GRCm39) |
T736I |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,963,072 (GRCm39) |
V200A |
probably benign |
Het |
| Gm14496 |
T |
A |
2: 181,637,613 (GRCm39) |
M229K |
possibly damaging |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Gspt1 |
T |
C |
16: 11,040,521 (GRCm39) |
T596A |
probably benign |
Het |
| H1f4 |
A |
G |
13: 23,806,350 (GRCm39) |
I44T |
probably damaging |
Het |
| Htr5b |
T |
A |
1: 121,438,157 (GRCm39) |
Y358F |
probably damaging |
Het |
| Il18r1 |
A |
T |
1: 40,513,992 (GRCm39) |
Y66F |
possibly damaging |
Het |
| Il18rap |
A |
G |
1: 40,564,536 (GRCm39) |
T189A |
probably damaging |
Het |
| Irag2 |
G |
A |
6: 145,104,424 (GRCm39) |
G164R |
possibly damaging |
Het |
| Itgav |
G |
T |
2: 83,625,327 (GRCm39) |
A771S |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,705,518 (GRCm39) |
V324A |
possibly damaging |
Het |
| Krtap15-1 |
T |
C |
16: 88,626,193 (GRCm39) |
C87R |
probably benign |
Het |
| Mapk8ip3 |
C |
T |
17: 25,120,692 (GRCm39) |
G807D |
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,169,755 (GRCm39) |
D1642G |
probably benign |
Het |
| Med15 |
G |
T |
16: 17,489,507 (GRCm39) |
Q356K |
unknown |
Het |
| Mmp3 |
A |
G |
9: 7,446,937 (GRCm39) |
Y39C |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,849,851 (GRCm39) |
S1149P |
probably damaging |
Het |
| Noc2l |
T |
A |
4: 156,323,673 (GRCm39) |
V179E |
possibly damaging |
Het |
| Or4b1b |
A |
T |
2: 90,112,748 (GRCm39) |
M57K |
probably damaging |
Het |
| Or5k3 |
T |
G |
16: 58,969,684 (GRCm39) |
M157R |
possibly damaging |
Het |
| Or5p64 |
G |
T |
7: 107,854,425 (GRCm39) |
Q307K |
probably benign |
Het |
| Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdhb10 |
A |
T |
18: 37,546,079 (GRCm39) |
Q385L |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,592,329 (GRCm39) |
K105R |
probably damaging |
Het |
| Pex1 |
A |
T |
5: 3,668,875 (GRCm39) |
D582V |
probably damaging |
Het |
| Pheta1 |
A |
T |
5: 121,991,336 (GRCm39) |
T233S |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,223,496 (GRCm39) |
|
probably null |
Het |
| Pigw |
T |
C |
11: 84,768,066 (GRCm39) |
N421S |
probably benign |
Het |
| Plek |
T |
C |
11: 16,944,739 (GRCm39) |
K97R |
probably benign |
Het |
| R3hcc1l |
C |
T |
19: 42,571,979 (GRCm39) |
R753* |
probably null |
Het |
| R3hdml |
G |
A |
2: 163,344,367 (GRCm39) |
W252* |
probably null |
Het |
| Septin12 |
T |
C |
16: 4,809,599 (GRCm39) |
K238E |
probably damaging |
Het |
| Sgce |
G |
A |
6: 4,691,615 (GRCm39) |
T320I |
probably benign |
Het |
| Sidt2 |
A |
T |
9: 45,854,988 (GRCm39) |
C562* |
probably null |
Het |
| Skint8 |
T |
C |
4: 111,796,717 (GRCm39) |
C274R |
possibly damaging |
Het |
| Slc13a5 |
A |
T |
11: 72,135,953 (GRCm39) |
M529K |
probably damaging |
Het |
| Smg8 |
T |
G |
11: 86,976,391 (GRCm39) |
S397R |
possibly damaging |
Het |
| Spock3 |
G |
T |
8: 63,566,590 (GRCm39) |
R68L |
possibly damaging |
Het |
| Stau2 |
T |
A |
1: 16,530,553 (GRCm39) |
H122L |
unknown |
Het |
| Tent5a |
G |
C |
9: 85,206,670 (GRCm39) |
A376G |
possibly damaging |
Het |
| Tert |
G |
A |
13: 73,790,495 (GRCm39) |
R858H |
probably damaging |
Het |
| Tgm3 |
G |
A |
2: 129,890,211 (GRCm39) |
R658Q |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,672,918 (GRCm39) |
I455T |
probably benign |
Het |
| Tmtc4 |
G |
A |
14: 123,215,593 (GRCm39) |
P18S |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,890,959 (GRCm39) |
I1641T |
probably damaging |
Het |
| Trav14-3 |
A |
T |
14: 54,000,951 (GRCm39) |
N54I |
probably damaging |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Unc5c |
T |
A |
3: 141,495,703 (GRCm39) |
M524K |
probably benign |
Het |
| Unc93a |
A |
G |
17: 13,335,171 (GRCm39) |
F292L |
probably benign |
Het |
| Uso1 |
A |
G |
5: 92,321,851 (GRCm39) |
N248S |
possibly damaging |
Het |
| Usp5 |
A |
G |
6: 124,803,281 (GRCm39) |
L73P |
probably damaging |
Het |
| Utp20 |
T |
A |
10: 88,598,797 (GRCm39) |
I60F |
possibly damaging |
Het |
| Vmn2r94 |
T |
A |
17: 18,463,882 (GRCm39) |
I803F |
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 |
|
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 |
|
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'- TGAGATGCACGTGGTTTTCC -3'
(R):5'- GACTTCCTTGTATGGAACCTGTGTG -3'
Sequencing Primer
(F):5'- GACCTCCAGTTGTTATCTAAGGGAC -3'
(R):5'- GGAACCTGTGTGTTATTAAGCCAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation