Incidental Mutation 'R8252:Msh3'
| ID |
640201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, D13Em1, Rep-3 |
| MMRRC Submission |
067678-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R8252 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92357569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 967
(T967S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000190761]
[ENSMUST00000191550]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: T966S
| 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: T967S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: T967S
| 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 damaging
Transcript: ENSMUST00000190761
AA Change: T80S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140402
Gene: ENSMUSG00000014850
AA Change: T80S
| Domain | Start | End | E-Value | Type |
|---|
|
MUTSac
|
1 |
128 |
2.3e-31 |
SMART |
|
| 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 |
0.9379 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,861,284 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,816,881 (GRCm39) |
I644T |
probably damaging |
Het |
| Arhgap18 |
T |
A |
10: 26,730,932 (GRCm39) |
D203E |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,518,706 (GRCm39) |
M337K |
probably benign |
Het |
| Atg13 |
G |
C |
2: 91,510,699 (GRCm39) |
P343A |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,634,335 (GRCm39) |
V1058I |
|
Het |
| Cd180 |
A |
G |
13: 102,842,504 (GRCm39) |
T517A |
probably benign |
Het |
| Cd1d2 |
A |
C |
3: 86,894,375 (GRCm39) |
I48L |
probably benign |
Het |
| Cdh19 |
C |
T |
1: 110,817,615 (GRCm39) |
C709Y |
probably benign |
Het |
| Chst10 |
T |
C |
1: 38,923,433 (GRCm39) |
D51G |
probably benign |
Het |
| Clec2g |
G |
A |
6: 128,958,335 (GRCm39) |
E184K |
probably benign |
Het |
| Col19a1 |
T |
A |
1: 24,319,048 (GRCm39) |
H1014L |
probably benign |
Het |
| Fam135b |
T |
A |
15: 71,404,872 (GRCm39) |
H58L |
probably benign |
Het |
| Fam171b |
A |
G |
2: 83,708,586 (GRCm39) |
I363V |
probably benign |
Het |
| Hecw1 |
C |
A |
13: 14,515,425 (GRCm39) |
G236W |
probably damaging |
Het |
| Htra3 |
A |
G |
5: 35,810,305 (GRCm39) |
M459T |
probably benign |
Het |
| Iglc2 |
A |
T |
16: 19,017,520 (GRCm39) |
C27* |
probably null |
Het |
| Il36b |
A |
T |
2: 24,048,825 (GRCm39) |
T77S |
possibly damaging |
Het |
| Kif1b |
A |
T |
4: 149,358,262 (GRCm39) |
N135K |
probably damaging |
Het |
| Krt5 |
A |
T |
15: 101,620,794 (GRCm39) |
I151N |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,936,142 (GRCm39) |
M606L |
probably benign |
Het |
| Lgr6 |
T |
A |
1: 134,931,215 (GRCm39) |
S280C |
probably null |
Het |
| Ndufb4 |
T |
C |
16: 37,474,637 (GRCm39) |
T29A |
probably benign |
Het |
| Nfe2l1 |
T |
C |
11: 96,710,058 (GRCm39) |
M724V |
probably benign |
Het |
| Nudt12 |
T |
C |
17: 59,318,089 (GRCm39) |
Y52C |
probably damaging |
Het |
| Nutm1 |
G |
T |
2: 112,082,174 (GRCm39) |
Q301K |
probably damaging |
Het |
| Or2t46 |
T |
A |
11: 58,471,958 (GRCm39) |
I96N |
probably damaging |
Het |
| Or4c102 |
A |
G |
2: 88,423,011 (GRCm39) |
R288G |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,704 (GRCm39) |
Y216F |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,126,086 (GRCm39) |
Y28C |
probably damaging |
Het |
| Pcdha11 |
G |
C |
18: 37,140,590 (GRCm39) |
V740L |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,472 (GRCm39) |
T1273A |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,727,058 (GRCm39) |
D574G |
probably damaging |
Het |
| Prrc2b |
A |
T |
2: 32,109,392 (GRCm39) |
Q1719L |
possibly damaging |
Het |
| Psap |
A |
G |
10: 60,113,511 (GRCm39) |
|
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,077,694 (GRCm39) |
I656V |
probably benign |
Het |
| Rab11fip2 |
C |
T |
19: 59,925,422 (GRCm39) |
S265N |
probably benign |
Het |
| Rnf10 |
A |
T |
5: 115,398,373 (GRCm39) |
D53E |
probably benign |
Het |
| Scgb2b11 |
T |
C |
7: 31,908,764 (GRCm39) |
E112G |
probably benign |
Het |
| Scml4 |
T |
C |
10: 42,800,100 (GRCm39) |
Y85H |
noncoding transcript |
Het |
| Setd5 |
T |
A |
6: 113,127,916 (GRCm39) |
Y1290N |
probably benign |
Het |
| Sgk1 |
T |
A |
10: 21,873,298 (GRCm39) |
C375S |
probably damaging |
Het |
| Sik2 |
A |
G |
9: 50,828,415 (GRCm39) |
V209A |
possibly damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,410 (GRCm39) |
V776D |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,594,796 (GRCm39) |
M1K |
probably null |
Het |
| Slc26a7 |
T |
C |
4: 14,621,415 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
G |
T |
2: 121,918,820 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
A |
Y: 2,663,298 (GRCm39) |
A121S |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,462,386 (GRCm39) |
T3719I |
probably damaging |
Het |
| Tcap |
T |
C |
11: 98,275,171 (GRCm39) |
S102P |
probably benign |
Het |
| Thap7 |
T |
C |
16: 17,346,486 (GRCm39) |
R166G |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,955,580 (GRCm39) |
Y58C |
probably damaging |
Het |
| Trim8 |
A |
G |
19: 46,504,059 (GRCm39) |
Y537C |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,200,528 (GRCm39) |
M4692K |
unknown |
Het |
| Uvssa |
A |
G |
5: 33,549,523 (GRCm39) |
S395G |
probably benign |
Het |
| Vgll4 |
G |
T |
6: 114,867,695 (GRCm39) |
T52K |
probably damaging |
Het |
| Vmn2r7 |
A |
G |
3: 64,600,527 (GRCm39) |
L548P |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,134 (GRCm39) |
S158T |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,072,337 (GRCm39) |
|
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,105,344 (GRCm39) |
C463S |
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 |
|
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 |
|
|
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'- CCTATAAGCCTTGAGTTAGCAAACTG -3'
(R):5'- AACATGTCTGTGCTTGCGTG -3'
Sequencing Primer
(F):5'- CTGAAAGGCAGGACTATTTGC -3'
(R):5'- GCGCATGCATGTGTGTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation