Incidental Mutation 'R8125:Msh3'
| ID |
631729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, D13Em1, Rep-3 |
| MMRRC Submission |
067554-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R8125 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92435690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 536
(N536K)
|
| 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: N536K
| 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: N536K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: N536K
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
100% (72/72) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
C |
A |
18: 24,608,709 (GRCm39) |
T143K |
probably benign |
Het |
| 4933434E20Rik |
T |
A |
3: 89,972,818 (GRCm39) |
V74D |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,277 (GRCm39) |
|
probably null |
Het |
| Adam20 |
A |
T |
8: 41,247,973 (GRCm39) |
I28L |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 82,099,541 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 8,989,240 (GRCm39) |
A3508V |
possibly damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,738,209 (GRCm39) |
I235T |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,201,554 (GRCm39) |
T164A |
probably damaging |
Het |
| Brip1 |
A |
G |
11: 86,077,817 (GRCm39) |
S204P |
possibly damaging |
Het |
| Ccdc185 |
C |
A |
1: 182,574,835 (GRCm39) |
S618I |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,406,614 (GRCm39) |
I805K |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cmtm2a |
A |
T |
8: 105,019,343 (GRCm39) |
I82N |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,515,806 (GRCm39) |
H416L |
probably damaging |
Het |
| Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
| Cygb |
T |
A |
11: 116,540,116 (GRCm39) |
T178S |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,414,089 (GRCm39) |
T909A |
possibly damaging |
Het |
| Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,700,953 (GRCm39) |
T1218A |
unknown |
Het |
| Ebf1 |
T |
C |
11: 44,863,742 (GRCm39) |
I364T |
probably damaging |
Het |
| Efcab10 |
C |
A |
12: 33,448,313 (GRCm39) |
R49S |
probably damaging |
Het |
| Eif2b1 |
G |
A |
5: 124,717,162 (GRCm39) |
|
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gm49358 |
T |
A |
10: 86,656,857 (GRCm39) |
F273Y |
|
Het |
| Gria2 |
T |
A |
3: 80,614,550 (GRCm39) |
I497F |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,331,078 (GRCm39) |
T426A |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,354,811 (GRCm39) |
I337V |
probably benign |
Het |
| Krtap19-5 |
A |
T |
16: 88,693,236 (GRCm39) |
Y25* |
probably null |
Het |
| Lamb2 |
T |
G |
9: 108,364,722 (GRCm39) |
S1159A |
probably benign |
Het |
| Mpig6b |
A |
T |
17: 35,284,328 (GRCm39) |
L154Q |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,343,594 (GRCm39) |
I118T |
probably damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,072,894 (GRCm39) |
S729P |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,190,598 (GRCm39) |
K1308E |
possibly damaging |
Het |
| Nav3 |
C |
A |
10: 109,688,520 (GRCm39) |
G586W |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,570,087 (GRCm39) |
K291E |
possibly damaging |
Het |
| Nr5a1 |
C |
T |
2: 38,591,993 (GRCm39) |
V327I |
probably damaging |
Het |
| Nup85 |
TACAAGACAA |
TACAA |
11: 115,469,063 (GRCm39) |
|
probably null |
Het |
| Or1o4 |
A |
T |
17: 37,590,935 (GRCm39) |
H125Q |
probably benign |
Het |
| Or4f4-ps1 |
A |
T |
2: 111,330,332 (GRCm39) |
D245V |
possibly damaging |
Het |
| Or4g17 |
T |
C |
2: 111,210,086 (GRCm39) |
V247A |
probably damaging |
Het |
| Pard3b |
T |
C |
1: 61,807,143 (GRCm39) |
Y53H |
probably damaging |
Het |
| Pcyox1l |
G |
A |
18: 61,840,576 (GRCm39) |
P26L |
unknown |
Het |
| Pdzrn4 |
A |
G |
15: 92,641,476 (GRCm39) |
S391G |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,487 (GRCm39) |
M108K |
probably damaging |
Het |
| Pibf1 |
C |
T |
14: 99,416,803 (GRCm39) |
Q459* |
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,897,241 (GRCm39) |
C556Y |
probably damaging |
Het |
| Plin1 |
A |
G |
7: 79,379,599 (GRCm39) |
F84L |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,627,801 (GRCm39) |
|
probably null |
Het |
| Sdc1 |
G |
A |
12: 8,840,663 (GRCm39) |
V143I |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,278,446 (GRCm39) |
|
probably null |
Het |
| Skor2 |
C |
A |
18: 76,947,373 (GRCm39) |
A365E |
unknown |
Het |
| Slc16a7 |
A |
G |
10: 125,164,202 (GRCm39) |
|
probably null |
Het |
| Slc25a31 |
T |
A |
3: 40,663,573 (GRCm39) |
V51E |
probably damaging |
Het |
| Slc6a6 |
C |
A |
6: 91,703,087 (GRCm39) |
F153L |
probably damaging |
Het |
| Snx7 |
T |
A |
3: 117,630,894 (GRCm39) |
K238M |
probably damaging |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| Spata31f3 |
A |
G |
4: 42,873,051 (GRCm39) |
L80P |
probably damaging |
Het |
| Sphkap |
T |
G |
1: 83,241,303 (GRCm39) |
Q1587P |
probably damaging |
Het |
| Tcte1 |
T |
C |
17: 45,850,618 (GRCm39) |
I298T |
possibly damaging |
Het |
| Tmem247 |
A |
G |
17: 87,229,795 (GRCm39) |
Y120C |
|
Het |
| Togaram2 |
C |
G |
17: 72,023,489 (GRCm39) |
L802V |
probably benign |
Het |
| Trim32 |
T |
C |
4: 65,532,199 (GRCm39) |
V252A |
probably benign |
Het |
| Ube2q2l |
T |
G |
6: 136,378,184 (GRCm39) |
R215S |
possibly damaging |
Het |
| Vat1 |
T |
C |
11: 101,351,029 (GRCm39) |
K404R |
probably benign |
Het |
| Xirp2 |
C |
A |
2: 67,342,379 (GRCm39) |
T1540K |
probably benign |
Het |
| Zc2hc1c |
C |
T |
12: 85,343,386 (GRCm39) |
H508Y |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,579,310 (GRCm39) |
M601K |
probably damaging |
Het |
| Zfp951 |
A |
T |
5: 104,963,169 (GRCm39) |
Y132* |
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 |
|
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 |
|
R7674:Msh3
|
UTSW |
13 |
92,349,011 (GRCm39) |
missense |
probably benign |
0.08 |
|
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'- GTAGCTAGTAGACAGCTTCAATTG -3'
(R):5'- AACAGCTGCCTGGCACTAAC -3'
Sequencing Primer
(F):5'- GTTCCAACTGAAGACTGTGATC -3'
(R):5'- TGCCTGGCACTAACACTGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation