Incidental Mutation 'R6853:Msh3'
| ID |
535106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, D13Em1, Rep-3 |
| MMRRC Submission |
044956-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R6853 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 92449080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000187874]
[ENSMUST00000191509]
[ENSMUST00000191550]
|
| 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: 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 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: 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 |
|
| 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: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
G |
T |
15: 12,818,031 (GRCm39) |
D138E |
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,140,480 (GRCm39) |
S359P |
possibly damaging |
Het |
| Bcam |
T |
C |
7: 19,494,331 (GRCm39) |
D355G |
probably damaging |
Het |
| Bmp8a |
C |
A |
4: 123,236,476 (GRCm39) |
W9L |
unknown |
Het |
| Cacul1 |
A |
T |
19: 60,517,904 (GRCm39) |
Y334* |
probably null |
Het |
| Ccdc178 |
A |
T |
18: 22,242,933 (GRCm39) |
N227K |
probably benign |
Het |
| Ceacam2 |
T |
C |
7: 25,217,561 (GRCm39) |
N318S |
possibly damaging |
Het |
| Cntrl |
T |
A |
2: 35,019,833 (GRCm39) |
S553R |
possibly damaging |
Het |
| Ctsa |
T |
A |
2: 164,679,284 (GRCm39) |
M331K |
probably benign |
Het |
| Cyp2c38 |
T |
A |
19: 39,426,748 (GRCm39) |
Q184H |
probably benign |
Het |
| Cyp2c70 |
C |
T |
19: 40,172,364 (GRCm39) |
E93K |
possibly damaging |
Het |
| D430041D05Rik |
C |
T |
2: 104,071,500 (GRCm39) |
V1267M |
probably damaging |
Het |
| Ddias |
C |
T |
7: 92,508,773 (GRCm39) |
A381T |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,935 (GRCm39) |
C2696Y |
probably benign |
Het |
| Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,497,738 (GRCm39) |
F256S |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,938,219 (GRCm39) |
Y198C |
probably damaging |
Het |
| Gabpa |
T |
A |
16: 84,657,387 (GRCm39) |
C421S |
probably damaging |
Het |
| Gm21798 |
A |
T |
15: 64,689,714 (GRCm39) |
|
probably benign |
Het |
| Gm21798 |
A |
T |
15: 64,689,716 (GRCm39) |
|
probably benign |
Het |
| Gm7145 |
A |
C |
1: 117,913,874 (GRCm39) |
N252T |
possibly damaging |
Het |
| H2-Q6 |
T |
C |
17: 35,647,335 (GRCm39) |
*327R |
probably null |
Het |
| H6pd |
T |
C |
4: 150,066,919 (GRCm39) |
D489G |
probably benign |
Het |
| Htra2 |
A |
G |
6: 83,030,812 (GRCm39) |
|
probably benign |
Het |
| Ice1 |
T |
G |
13: 70,751,421 (GRCm39) |
E1555A |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,609,402 (GRCm39) |
|
probably null |
Het |
| Itih2 |
T |
C |
2: 10,120,077 (GRCm39) |
D320G |
probably damaging |
Het |
| Kif1a |
T |
G |
1: 92,967,524 (GRCm39) |
H1129P |
possibly damaging |
Het |
| Kmt2a |
G |
A |
9: 44,729,704 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 69,084,915 (GRCm39) |
D609N |
probably damaging |
Het |
| Lgals9 |
A |
T |
11: 78,856,832 (GRCm39) |
D248E |
probably benign |
Het |
| Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
| Mtus2 |
A |
G |
5: 148,043,821 (GRCm39) |
K803R |
probably damaging |
Het |
| Oas1a |
T |
A |
5: 121,045,491 (GRCm39) |
I17L |
possibly damaging |
Het |
| Or2h2c |
G |
A |
17: 37,422,400 (GRCm39) |
T158I |
probably benign |
Het |
| Or5b121 |
T |
A |
19: 13,507,295 (GRCm39) |
I130K |
possibly damaging |
Het |
| Or5k15 |
C |
T |
16: 58,710,121 (GRCm39) |
S154N |
possibly damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,122 (GRCm39) |
S154C |
probably damaging |
Het |
| Or7g32 |
T |
G |
9: 19,408,102 (GRCm39) |
Y19* |
probably null |
Het |
| Otof |
T |
C |
5: 30,545,583 (GRCm39) |
D539G |
probably damaging |
Het |
| Pabpc4 |
T |
C |
4: 123,188,536 (GRCm39) |
Y382H |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,566 (GRCm39) |
T859A |
probably damaging |
Het |
| Ralbp1 |
C |
T |
17: 66,159,751 (GRCm39) |
R504H |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,671,755 (GRCm39) |
F2131S |
probably damaging |
Het |
| Sik1 |
A |
T |
17: 32,073,180 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
G |
3: 72,798,759 (GRCm39) |
I1763T |
possibly damaging |
Het |
| Slc39a6 |
A |
G |
18: 24,732,376 (GRCm39) |
I304T |
possibly damaging |
Het |
| Slc5a12 |
A |
G |
2: 110,454,539 (GRCm39) |
S367G |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,743,738 (GRCm39) |
W476R |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,920,551 (GRCm39) |
Y429H |
possibly damaging |
Het |
| Stt3a |
G |
A |
9: 36,653,023 (GRCm39) |
S553F |
possibly damaging |
Het |
| Sult2a1 |
C |
T |
7: 13,535,412 (GRCm39) |
V214I |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,123,656 (GRCm39) |
E38G |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,486,502 (GRCm39) |
G990R |
possibly damaging |
Het |
| Thop1 |
T |
C |
10: 80,911,495 (GRCm39) |
|
probably null |
Het |
| Thumpd2 |
C |
A |
17: 81,372,459 (GRCm39) |
D11Y |
possibly damaging |
Het |
| Tmf1 |
T |
G |
6: 97,145,810 (GRCm39) |
I574L |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,879,499 (GRCm39) |
V623A |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
G |
1: 188,643,434 (GRCm39) |
Y4265* |
probably null |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,771 (GRCm39) |
L114Q |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,063 (GRCm39) |
Y187F |
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 |
|
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 |
|
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'- TCATGCTGCTGGTGTTCTCT -3'
(R):5'- TGTTGTTATTCAAGGCTGACATCT -3'
Sequencing Primer
(F):5'- CTTCTGAGCACTGGGTGAACAG -3'
(R):5'- GGATGACAGGATTCGAGT -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation