Incidental Mutation 'R6004:Msh3'
| ID |
478533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, D13Em1, Rep-3 |
| MMRRC Submission |
044182-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R6004 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 92478922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022220]
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000185852]
[ENSMUST00000187874]
[ENSMUST00000190393]
[ENSMUST00000191550]
[ENSMUST00000191509]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022220
|
| SMART Domains |
Protein: ENSMUSP00000022220
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 |
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 null
Transcript: ENSMUST00000022220
|
| SMART Domains |
Protein: ENSMUSP00000022220
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 |
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 null
Transcript: ENSMUST00000185852
|
| SMART Domains |
Protein: ENSMUSP00000140002
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 |
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 null
Transcript: ENSMUST00000185852
|
| SMART Domains |
Protein: ENSMUSP00000140002
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 |
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 |
0.9497 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.1%
|
| Validation Efficiency |
98% (55/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
C |
T |
3: 97,082,997 (GRCm39) |
A336V |
probably benign |
Het |
| Adam5 |
T |
A |
8: 25,271,685 (GRCm39) |
Y574F |
probably benign |
Het |
| Arl6 |
A |
T |
16: 59,444,257 (GRCm39) |
W80R |
probably damaging |
Het |
| Bmal1 |
A |
T |
7: 112,879,934 (GRCm39) |
D22V |
probably damaging |
Het |
| Cars2 |
A |
G |
8: 11,597,743 (GRCm39) |
I111T |
probably damaging |
Het |
| Chrd |
T |
C |
16: 20,553,987 (GRCm39) |
L317S |
possibly damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,290,664 (GRCm39) |
D262G |
probably benign |
Het |
| Dcaf6 |
A |
G |
1: 165,216,254 (GRCm39) |
S450P |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,685,520 (GRCm39) |
D164G |
probably benign |
Het |
| Gpx6 |
A |
C |
13: 21,503,239 (GRCm39) |
T218P |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,746,239 (GRCm39) |
N351S |
probably damaging |
Het |
| Idua |
A |
G |
5: 108,828,510 (GRCm39) |
E241G |
probably benign |
Het |
| Ighv14-2 |
T |
A |
12: 113,958,255 (GRCm39) |
Q62L |
probably damaging |
Het |
| Ighv1-65 |
C |
T |
12: 115,496,056 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp4a |
T |
C |
1: 37,411,451 (GRCm39) |
S372P |
probably damaging |
Het |
| Itgax |
A |
T |
7: 127,730,624 (GRCm39) |
H114L |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,111,781 (GRCm39) |
F746L |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,393,362 (GRCm39) |
V688M |
possibly damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,922,923 (GRCm39) |
V28A |
probably benign |
Het |
| Mill2 |
A |
T |
7: 18,590,463 (GRCm39) |
D166V |
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,176,377 (GRCm39) |
C982Y |
probably damaging |
Het |
| Myh15 |
A |
T |
16: 48,980,062 (GRCm39) |
M1395L |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,113,950 (GRCm39) |
E642G |
probably benign |
Het |
| Nrg4 |
T |
C |
9: 55,166,667 (GRCm39) |
T68A |
possibly damaging |
Het |
| Or10ag60 |
T |
A |
2: 87,438,253 (GRCm39) |
F174I |
probably damaging |
Het |
| Or4b1d |
T |
C |
2: 89,969,343 (GRCm39) |
N47D |
probably benign |
Het |
| Or4f60 |
G |
T |
2: 111,902,371 (GRCm39) |
L186I |
probably damaging |
Het |
| Or6c66b |
T |
A |
10: 129,376,759 (GRCm39) |
Y118N |
probably benign |
Het |
| Or8b41 |
A |
G |
9: 38,055,256 (GRCm39) |
K270R |
probably damaging |
Het |
| Or9g20 |
A |
T |
2: 85,629,726 (GRCm39) |
V296E |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,715,390 (GRCm39) |
I429F |
probably damaging |
Het |
| Pank4 |
G |
T |
4: 155,061,678 (GRCm39) |
G532C |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,710,315 (GRCm39) |
T1150A |
probably damaging |
Het |
| Ppp2r2b |
T |
C |
18: 43,192,224 (GRCm39) |
|
probably null |
Het |
| Prkrip1 |
A |
G |
5: 136,226,636 (GRCm39) |
M68T |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,806,896 (GRCm39) |
|
probably benign |
Het |
| Raet1d |
T |
A |
10: 22,247,293 (GRCm39) |
I123N |
probably damaging |
Het |
| Rp1 |
T |
G |
1: 4,267,808 (GRCm39) |
T825P |
unknown |
Het |
| Rttn |
T |
C |
18: 89,039,816 (GRCm39) |
I839T |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,379,707 (GRCm39) |
Q1042* |
probably null |
Het |
| Skint11 |
A |
G |
4: 114,088,925 (GRCm39) |
T240A |
probably benign |
Het |
| Speg |
A |
T |
1: 75,392,247 (GRCm39) |
K1382* |
probably null |
Het |
| Srsf7 |
A |
T |
17: 80,513,282 (GRCm39) |
D68E |
probably damaging |
Het |
| Stag3 |
A |
T |
5: 138,287,468 (GRCm39) |
D131V |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,926,570 (GRCm39) |
C152S |
probably damaging |
Het |
| Timm44 |
G |
T |
8: 4,317,747 (GRCm39) |
D191E |
probably benign |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,987 (GRCm39) |
V148A |
probably damaging |
Het |
| Trp63 |
T |
C |
16: 25,582,146 (GRCm39) |
|
probably null |
Het |
| Tusc3 |
G |
C |
8: 39,538,560 (GRCm39) |
G200R |
probably damaging |
Het |
| Vmn2r10 |
T |
G |
5: 109,146,944 (GRCm39) |
N448T |
probably benign |
Het |
| Vmn2r50 |
G |
A |
7: 9,783,986 (GRCm39) |
R163C |
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,328 (GRCm39) |
H497R |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,176,131 (GRCm39) |
V83A |
possibly damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,075,858 (GRCm39) |
N861I |
possibly damaging |
Het |
| Zfp712 |
A |
G |
13: 67,189,769 (GRCm39) |
C253R |
probably damaging |
Het |
| Zfp930 |
A |
G |
8: 69,680,556 (GRCm39) |
T84A |
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 |
|
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 |
|
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'- AGAATAAGCATTGGTTTGGGAAGTC -3'
(R):5'- CCTTTTAGATGCCTGTGACTCTAAC -3'
Sequencing Primer
(F):5'- GTGTGAACAAGATCATTCCTCACCTG -3'
(R):5'- GCCTGTGACTCTAACTTACATCAGAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation