Incidental Mutation 'R5940:Msh3'
| ID |
462519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, D13Em1, Rep-3 |
| MMRRC Submission |
044132-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R5940 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 92386351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 838
(N838T)
|
| 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 |
probably damaging
Transcript: ENSMUST00000022220
AA Change: N838T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: N838T
| 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: N838T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: N838T
| 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 |
noncoding transcript
Transcript: ENSMUST00000186392
|
| 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 |
0.9459 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (88/92) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,645 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Aasdh |
G |
T |
5: 77,030,745 (GRCm39) |
S618R |
probably benign |
Het |
| Alpk1 |
T |
G |
3: 127,464,595 (GRCm39) |
T1228P |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,756,316 (GRCm39) |
V850A |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,969,098 (GRCm39) |
|
probably null |
Het |
| Ash1l |
C |
T |
3: 88,891,343 (GRCm39) |
T1074I |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,517,244 (GRCm39) |
S1297F |
possibly damaging |
Het |
| Cchcr1 |
G |
A |
17: 35,835,890 (GRCm39) |
R284Q |
probably damaging |
Het |
| Cd93 |
A |
T |
2: 148,284,152 (GRCm39) |
I398N |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,839,992 (GRCm39) |
D638V |
probably damaging |
Het |
| Chrd |
G |
T |
16: 20,553,336 (GRCm39) |
R226L |
probably null |
Het |
| Clvs1 |
A |
T |
4: 9,449,443 (GRCm39) |
N344I |
possibly damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,774,821 (GRCm39) |
I111N |
probably damaging |
Het |
| Cysltr2 |
T |
A |
14: 73,267,389 (GRCm39) |
Y107F |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Czib |
A |
G |
4: 107,750,485 (GRCm39) |
|
probably benign |
Het |
| Defb47 |
A |
T |
14: 63,238,359 (GRCm39) |
E28D |
probably benign |
Het |
| Dnajc30 |
T |
A |
5: 135,093,413 (GRCm39) |
Y103* |
probably null |
Het |
| Drap1 |
T |
C |
19: 5,473,028 (GRCm39) |
T160A |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,380,002 (GRCm39) |
E2249G |
possibly damaging |
Het |
| E2f8 |
T |
A |
7: 48,520,825 (GRCm39) |
I499F |
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,512,048 (GRCm39) |
Y116N |
probably damaging |
Het |
| Ecrg4 |
C |
T |
1: 43,776,401 (GRCm39) |
R41* |
probably null |
Het |
| Ect2 |
C |
A |
3: 27,169,614 (GRCm39) |
E746D |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,106,227 (GRCm39) |
Y333F |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,943,798 (GRCm39) |
V897A |
probably benign |
Het |
| Gja3 |
T |
A |
14: 57,273,317 (GRCm39) |
S352C |
probably damaging |
Het |
| Gpr153 |
C |
A |
4: 152,367,832 (GRCm39) |
P561Q |
probably benign |
Het |
| Hlcs |
T |
C |
16: 93,935,571 (GRCm39) |
M574V |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,532,973 (GRCm39) |
V3070A |
probably benign |
Het |
| Hsd3b2 |
G |
T |
3: 98,619,287 (GRCm39) |
N219K |
probably benign |
Het |
| Htra3 |
T |
C |
5: 35,810,324 (GRCm39) |
I453V |
possibly damaging |
Het |
| Klrc1 |
A |
T |
6: 129,651,898 (GRCm39) |
M220K |
possibly damaging |
Het |
| Kntc1 |
T |
G |
5: 123,924,258 (GRCm39) |
I1048S |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,504,712 (GRCm39) |
S243G |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,326,674 (GRCm39) |
D2822V |
probably damaging |
Het |
| Mcu |
T |
A |
10: 59,292,554 (GRCm39) |
I42F |
possibly damaging |
Het |
| Mkln1 |
T |
A |
6: 31,466,307 (GRCm39) |
D521E |
probably damaging |
Het |
| Ms4a13 |
T |
C |
19: 11,170,330 (GRCm39) |
N5D |
possibly damaging |
Het |
| Msl2 |
T |
A |
9: 100,978,290 (GRCm39) |
C221* |
probably null |
Het |
| Ncapd2 |
A |
G |
6: 125,145,832 (GRCm39) |
S1310P |
probably benign |
Het |
| Ncoa6 |
A |
T |
2: 155,257,785 (GRCm39) |
M586K |
probably damaging |
Het |
| Ndel1 |
C |
T |
11: 68,713,397 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,355,068 (GRCm39) |
|
probably benign |
Het |
| Nes |
T |
G |
3: 87,883,259 (GRCm39) |
V506G |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,339,372 (GRCm39) |
K200E |
probably damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,425,515 (GRCm39) |
K295E |
probably damaging |
Het |
| Or4f54 |
G |
A |
2: 111,122,729 (GRCm39) |
V39M |
possibly damaging |
Het |
| Or5b123 |
T |
A |
19: 13,596,517 (GRCm39) |
|
probably null |
Het |
| Or6s1 |
T |
A |
14: 51,308,179 (GRCm39) |
I224L |
probably damaging |
Het |
| Or8b4 |
C |
T |
9: 37,830,733 (GRCm39) |
T260I |
probably damaging |
Het |
| Or8g51 |
G |
T |
9: 38,609,007 (GRCm39) |
Y218* |
probably null |
Het |
| Or8k38 |
A |
T |
2: 86,488,394 (GRCm39) |
M136K |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pde1a |
A |
G |
2: 79,718,183 (GRCm39) |
|
probably null |
Het |
| Pds5a |
A |
G |
5: 65,801,328 (GRCm39) |
|
probably benign |
Het |
| Plbd1 |
A |
T |
6: 136,590,719 (GRCm39) |
|
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,473,450 (GRCm39) |
V292E |
probably benign |
Het |
| Polg |
A |
G |
7: 79,103,819 (GRCm39) |
V879A |
possibly damaging |
Het |
| Ppargc1a |
C |
T |
5: 51,631,253 (GRCm39) |
A459T |
probably damaging |
Het |
| Prorp |
T |
A |
12: 55,351,659 (GRCm39) |
W323R |
probably damaging |
Het |
| Psip1 |
T |
C |
4: 83,394,559 (GRCm39) |
E83G |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,159,847 (GRCm39) |
D843G |
probably benign |
Het |
| Rnpepl1 |
G |
T |
1: 92,845,434 (GRCm39) |
C451F |
probably damaging |
Het |
| Rrp1 |
T |
C |
10: 78,241,249 (GRCm39) |
D206G |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,798,703 (GRCm39) |
D1492E |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc16a6 |
C |
T |
11: 109,364,022 (GRCm39) |
|
probably benign |
Homo |
| Slc7a6os |
A |
G |
8: 106,937,437 (GRCm39) |
S37P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,495,102 (GRCm39) |
S1140T |
probably damaging |
Het |
| Thoc6 |
C |
A |
17: 23,889,315 (GRCm39) |
R115L |
probably benign |
Het |
| Tmem63c |
C |
T |
12: 87,121,946 (GRCm39) |
H385Y |
probably benign |
Het |
| Trpm8 |
G |
T |
1: 88,279,137 (GRCm39) |
E649* |
probably null |
Het |
| Usf1 |
A |
G |
1: 171,245,347 (GRCm39) |
E253G |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,801,545 (GRCm39) |
T443A |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,927,660 (GRCm39) |
Y93C |
probably damaging |
Het |
| Zfp597 |
A |
T |
16: 3,683,685 (GRCm39) |
I357N |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,644,064 (GRCm39) |
I497V |
possibly damaging |
Het |
| Zxdc |
T |
C |
6: 90,347,307 (GRCm39) |
S223P |
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 |
|
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'- GTATCTACGGATATTTTCCATTGGG -3'
(R):5'- TCTCTTCCCTATTGAGTACTGAAGG -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- AGCCTCCCGTGCTGAGATTTAAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation