Incidental Mutation 'R0659:Msh3'
| ID |
61801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, D13Em1, Rep-3 |
| MMRRC Submission |
038844-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R0659 (G1)
|
| Quality Score |
95 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92481604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 303
(N303D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000187874]
[ENSMUST00000190393]
[ENSMUST00000191550]
[ENSMUST00000191509]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022220
AA Change: N303D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: N303D
| 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 |
possibly damaging
Transcript: ENSMUST00000185852
AA Change: N303D
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: N303D
| 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: ENSMUST00000186878
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187831
|
| 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: ENSMUST00000189376
|
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0905 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.6%
|
| Validation Efficiency |
99% (72/73) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,140,565 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,992,366 (GRCm39) |
H4550R |
possibly damaging |
Het |
| Anxa6 |
A |
G |
11: 54,874,173 (GRCm39) |
V591A |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,473 (GRCm39) |
S158P |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,322,067 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,587,452 (GRCm39) |
|
probably benign |
Het |
| Cep78 |
C |
T |
19: 15,933,554 (GRCm39) |
V675M |
probably damaging |
Het |
| Ces4a |
T |
C |
8: 105,871,554 (GRCm39) |
|
probably benign |
Het |
| Chpf |
A |
G |
1: 75,454,367 (GRCm39) |
V137A |
probably damaging |
Het |
| Comp |
T |
C |
8: 70,831,751 (GRCm39) |
S457P |
possibly damaging |
Het |
| Cth |
A |
G |
3: 157,625,752 (GRCm39) |
|
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,733,563 (GRCm39) |
L314P |
probably damaging |
Het |
| Ets1 |
C |
T |
9: 32,649,589 (GRCm39) |
R309C |
probably damaging |
Het |
| Foxp2 |
T |
C |
6: 15,254,278 (GRCm39) |
|
probably benign |
Het |
| Gm9875 |
T |
G |
2: 13,562,995 (GRCm39) |
F108V |
unknown |
Het |
| Golga5 |
G |
T |
12: 102,442,467 (GRCm39) |
V269F |
possibly damaging |
Het |
| Greb1 |
T |
C |
12: 16,730,213 (GRCm39) |
Y1738C |
probably damaging |
Het |
| Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
| Hdac5 |
A |
T |
11: 102,086,850 (GRCm39) |
V70E |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,221 (GRCm39) |
Q60R |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,221,750 (GRCm39) |
T92A |
possibly damaging |
Het |
| Itpk1 |
C |
T |
12: 102,572,337 (GRCm39) |
|
probably benign |
Het |
| Lin28a |
T |
C |
4: 133,735,410 (GRCm39) |
|
probably benign |
Het |
| Mapk6 |
T |
C |
9: 75,305,244 (GRCm39) |
S58G |
probably damaging |
Het |
| Mmp21 |
G |
A |
7: 133,279,396 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,178,064 (GRCm39) |
D1053N |
probably damaging |
Het |
| Mto1 |
C |
T |
9: 78,378,072 (GRCm39) |
T638M |
probably damaging |
Het |
| Mto1 |
T |
A |
9: 78,364,790 (GRCm39) |
I343N |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,908,193 (GRCm39) |
K2027E |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,703,545 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,256,703 (GRCm39) |
I107T |
probably damaging |
Het |
| Or5k17 |
C |
A |
16: 58,746,772 (GRCm39) |
R54L |
possibly damaging |
Het |
| Or8g37 |
T |
G |
9: 39,731,112 (GRCm39) |
M59R |
possibly damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,258,767 (GRCm39) |
S268P |
probably damaging |
Het |
| Pih1d1 |
T |
A |
7: 44,809,399 (GRCm39) |
S289T |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 132,998,938 (GRCm39) |
D353G |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,378,368 (GRCm39) |
L609P |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,100,199 (GRCm39) |
D1901V |
probably damaging |
Het |
| Rdh9 |
T |
C |
10: 127,612,444 (GRCm39) |
Y31H |
possibly damaging |
Het |
| Slc5a9 |
T |
A |
4: 111,741,068 (GRCm39) |
Y526F |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,918,121 (GRCm39) |
K582E |
probably benign |
Het |
| Sult1c2 |
A |
T |
17: 54,138,806 (GRCm39) |
M257K |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,448 (GRCm39) |
D1834G |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 128,061,351 (GRCm39) |
I417T |
possibly damaging |
Het |
| Tmem229b |
T |
C |
12: 79,011,908 (GRCm39) |
T8A |
probably benign |
Het |
| Tmem237 |
T |
C |
1: 59,153,253 (GRCm39) |
I89M |
possibly damaging |
Het |
| Tnfrsf17 |
A |
T |
16: 11,137,683 (GRCm39) |
D140V |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,807,647 (GRCm39) |
|
probably benign |
Het |
| Trio |
A |
G |
15: 27,831,485 (GRCm39) |
L194P |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,605,122 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,828,217 (GRCm39) |
M1457K |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,311,258 (GRCm39) |
C479R |
possibly damaging |
Het |
| Zfp420 |
T |
A |
7: 29,574,964 (GRCm39) |
C395S |
probably damaging |
Het |
| Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
Het |
| Zfp82 |
C |
T |
7: 29,755,754 (GRCm39) |
E443K |
probably damaging |
Het |
| Zranb2 |
A |
G |
3: 157,247,400 (GRCm39) |
S193G |
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 |
|
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 |
|
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'- TCTCACCTTCCAAGGACTTACCACG -3'
(R):5'- GGTTGTTAAGGAGTCAAGTGCCACG -3'
Sequencing Primer
(F):5'- ACGATACCAACGGAAAGGTTC -3'
(R):5'- TCCCACATGGTTGCAGGTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation