Incidental Mutation 'R9326:Msh3'
| ID |
706544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, D13Em1, Rep-3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R9326 (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 92400307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 744
(V744E)
|
| 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: V744E
| 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: V744E
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: V744E
| 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: 98.8%
|
| Validation Efficiency |
100% (66/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,849,882 (GRCm39) |
Y230* |
probably null |
Het |
| Adamts14 |
A |
G |
10: 61,036,238 (GRCm39) |
S1015P |
probably benign |
Het |
| Adamts8 |
A |
G |
9: 30,854,886 (GRCm39) |
T252A |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,150,804 (GRCm39) |
S149T |
possibly damaging |
Het |
| Afp |
A |
G |
5: 90,652,205 (GRCm39) |
K399E |
probably damaging |
Het |
| Atp8b1 |
T |
A |
18: 64,706,344 (GRCm39) |
S222C |
probably damaging |
Het |
| Ccdc88c |
C |
A |
12: 100,995,109 (GRCm39) |
|
probably benign |
Het |
| Cfap276 |
C |
T |
3: 108,451,931 (GRCm39) |
R159W |
probably damaging |
Het |
| Cip2a |
G |
A |
16: 48,834,235 (GRCm39) |
|
probably null |
Het |
| Cluh |
A |
G |
11: 74,554,902 (GRCm39) |
K780R |
probably benign |
Het |
| Cope |
C |
A |
8: 70,755,516 (GRCm39) |
F20L |
possibly damaging |
Het |
| Cps1 |
G |
T |
1: 67,248,795 (GRCm39) |
R1174L |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,049,803 (GRCm39) |
T2271I |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,616,359 (GRCm39) |
I192T |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,680,018 (GRCm39) |
T106A |
probably benign |
Het |
| Ddb2 |
A |
T |
2: 91,047,559 (GRCm39) |
M240K |
probably benign |
Het |
| Ddx20 |
A |
T |
3: 105,591,735 (GRCm39) |
V145D |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,749,008 (GRCm39) |
D268G |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,801,886 (GRCm39) |
I716V |
probably benign |
Het |
| Epb41l4a |
G |
T |
18: 33,961,261 (GRCm39) |
Y424* |
probably null |
Het |
| Exog |
A |
G |
9: 119,291,554 (GRCm39) |
N277S |
probably damaging |
Het |
| Fzd7 |
T |
C |
1: 59,522,837 (GRCm39) |
L240P |
possibly damaging |
Het |
| Gpr87 |
T |
C |
3: 59,086,609 (GRCm39) |
T299A |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 54,079,369 (GRCm39) |
Y95H |
probably damaging |
Het |
| Idh1 |
T |
C |
1: 65,205,416 (GRCm39) |
Y183C |
probably damaging |
Het |
| Ighv14-4 |
T |
A |
12: 114,140,469 (GRCm39) |
I7F |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,495,641 (GRCm39) |
I83F |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,931,745 (GRCm39) |
S609P |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,134,615 (GRCm39) |
E9G |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,906,193 (GRCm39) |
F2421L |
probably benign |
Het |
| Lmod2 |
A |
T |
6: 24,597,999 (GRCm39) |
I40F |
probably damaging |
Het |
| Lsm5 |
A |
T |
6: 56,681,616 (GRCm39) |
L13Q |
possibly damaging |
Het |
| Man2c1 |
G |
T |
9: 57,042,904 (GRCm39) |
C258F |
probably damaging |
Het |
| Mgst1 |
T |
C |
6: 138,120,023 (GRCm39) |
S28P |
probably benign |
Het |
| Mtx2 |
C |
T |
2: 74,656,287 (GRCm39) |
|
probably benign |
Het |
| N4bp3 |
C |
T |
11: 51,535,313 (GRCm39) |
R292H |
probably benign |
Het |
| Neto2 |
A |
T |
8: 86,369,063 (GRCm39) |
W354R |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Nutm1 |
A |
T |
2: 112,078,692 (GRCm39) |
S1074R |
possibly damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,730 (GRCm39) |
M219K |
probably benign |
Het |
| Or5aq1 |
T |
C |
2: 86,966,647 (GRCm39) |
H6R |
probably benign |
Het |
| Or7g29 |
A |
T |
9: 19,286,346 (GRCm39) |
M277K |
probably damaging |
Het |
| Or8s8 |
T |
C |
15: 98,354,935 (GRCm39) |
V248A |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,900,506 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
C |
T |
1: 153,679,768 (GRCm39) |
D103N |
probably benign |
Het |
| Rrbp1 |
G |
A |
2: 143,806,744 (GRCm39) |
T958M |
probably damaging |
Het |
| S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
| Setd2 |
T |
C |
9: 110,378,671 (GRCm39) |
C829R |
probably benign |
Het |
| Snd1 |
A |
T |
6: 28,795,842 (GRCm39) |
R562* |
probably null |
Het |
| Snx27 |
A |
T |
3: 94,409,369 (GRCm39) |
Y526N |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,791,010 (GRCm39) |
L483P |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,537,019 (GRCm39) |
S436P |
probably damaging |
Het |
| Thy1 |
A |
G |
9: 43,957,983 (GRCm39) |
D37G |
probably damaging |
Het |
| Tmed8 |
A |
T |
12: 87,221,395 (GRCm39) |
I126N |
probably damaging |
Het |
| Tmem161b |
T |
A |
13: 84,440,602 (GRCm39) |
L340* |
probably null |
Het |
| Tpr |
C |
T |
1: 150,301,407 (GRCm39) |
A1331V |
possibly damaging |
Het |
| Tprg1 |
G |
A |
16: 25,136,107 (GRCm39) |
E33K |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,930,627 (GRCm39) |
N123D |
probably damaging |
Het |
| Wdr7 |
G |
A |
18: 63,872,260 (GRCm39) |
S398N |
probably benign |
Het |
| Zbtb48 |
T |
C |
4: 152,111,509 (GRCm39) |
D2G |
probably damaging |
Het |
| Zfp975 |
G |
A |
7: 42,311,837 (GRCm39) |
R259* |
probably null |
Het |
| Zfp986 |
T |
A |
4: 145,626,451 (GRCm39) |
H370Q |
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 |
|
|
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 |
|
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'- ACTAGGAAGTCACAGAAGCAATCTC -3'
(R):5'- GCTTCCTGAACATGCTCGTATTG -3'
Sequencing Primer
(F):5'- CAATCTCTGCTTGTTTAGGGGGC -3'
(R):5'- TGTTAAAAAGTCAAAACTGGGACC -3'
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| Posted On |
2022-04-18 |
Incidental Mutation