Incidental Mutation 'R8986:Msh3'
| ID |
684050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, D13Em1, Rep-3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R8986 (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 C
at 92483334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 270
(T270A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000187424]
[ENSMUST00000187874]
[ENSMUST00000190393]
[ENSMUST00000191509]
[ENSMUST00000191550]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: T270A
| 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: T270A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: T270A
| 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: ENSMUST00000187424
|
| SMART Domains |
Protein: ENSMUSP00000139622
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: 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: 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: 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Adamts10 |
C |
T |
17: 33,762,668 (GRCm39) |
A549V |
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,259,074 (GRCm39) |
M566T |
probably benign |
Het |
| Alb |
A |
G |
5: 90,615,225 (GRCm39) |
T246A |
probably benign |
Het |
| Cyfip1 |
C |
T |
7: 55,558,140 (GRCm39) |
R806C |
probably damaging |
Het |
| Cyp11a1 |
T |
A |
9: 57,925,644 (GRCm39) |
I195N |
probably damaging |
Het |
| Dclre1a |
C |
G |
19: 56,526,826 (GRCm39) |
Q863H |
|
Het |
| Ddx19a |
A |
G |
8: 111,705,188 (GRCm39) |
V311A |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,057,330 (GRCm39) |
F1557I |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,755,181 (GRCm39) |
T865S |
possibly damaging |
Het |
| Esrrg |
T |
A |
1: 187,943,104 (GRCm39) |
I382K |
possibly damaging |
Het |
| Fam149a |
G |
A |
8: 45,811,837 (GRCm39) |
T22M |
|
Het |
| Fam227b |
A |
T |
2: 125,958,019 (GRCm39) |
Y249N |
probably damaging |
Het |
| Fanci |
G |
A |
7: 79,095,472 (GRCm39) |
V1217I |
probably benign |
Het |
| Fermt2 |
A |
G |
14: 45,742,023 (GRCm39) |
Y108H |
probably benign |
Het |
| Gkn1 |
A |
T |
6: 87,325,160 (GRCm39) |
V83E |
probably damaging |
Het |
| Glmp |
T |
A |
3: 88,233,002 (GRCm39) |
S47T |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,734,457 (GRCm39) |
H1511R |
probably damaging |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Htra3 |
A |
T |
5: 35,836,372 (GRCm39) |
C107S |
probably damaging |
Het |
| Ighv1-58 |
T |
C |
12: 115,275,835 (GRCm39) |
Q101R |
probably benign |
Het |
| Ighv6-5 |
A |
T |
12: 114,380,382 (GRCm39) |
L45* |
probably null |
Het |
| Igtp |
T |
A |
11: 58,096,947 (GRCm39) |
|
probably null |
Het |
| Il1rap |
T |
C |
16: 26,533,696 (GRCm39) |
S531P |
probably damaging |
Het |
| Kcnd3 |
A |
T |
3: 105,367,039 (GRCm39) |
H303L |
probably damaging |
Het |
| Kcnj3 |
G |
T |
2: 55,485,039 (GRCm39) |
S379I |
probably benign |
Het |
| Lrrc36 |
T |
C |
8: 106,176,093 (GRCm39) |
S156P |
possibly damaging |
Het |
| Mical3 |
G |
T |
6: 120,991,822 (GRCm39) |
D250E |
|
Het |
| Myrfl |
A |
G |
10: 116,658,746 (GRCm39) |
W404R |
probably damaging |
Het |
| Nol7 |
T |
C |
13: 43,554,985 (GRCm39) |
F206S |
probably damaging |
Het |
| Obi1 |
T |
C |
14: 104,745,418 (GRCm39) |
H86R |
probably damaging |
Het |
| Or12e13 |
A |
T |
2: 87,663,655 (GRCm39) |
I91F |
possibly damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,473,050 (GRCm39) |
I134T |
probably benign |
Het |
| Paox |
A |
G |
7: 139,706,503 (GRCm39) |
E141G |
probably benign |
Het |
| Plod1 |
A |
T |
4: 147,997,734 (GRCm39) |
H658Q |
probably damaging |
Het |
| Pou4f1 |
T |
C |
14: 104,704,087 (GRCm39) |
D115G |
probably damaging |
Het |
| Ppp1r26 |
G |
T |
2: 28,342,802 (GRCm39) |
E811* |
probably null |
Het |
| Qsox1 |
C |
T |
1: 155,666,829 (GRCm39) |
R220K |
probably damaging |
Het |
| Rabgap1l |
C |
T |
1: 160,085,105 (GRCm39) |
V781I |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,541,354 (GRCm39) |
D1294G |
possibly damaging |
Het |
| Rbp7 |
C |
T |
4: 149,537,371 (GRCm39) |
V97I |
probably benign |
Het |
| Rrad |
C |
T |
8: 105,355,222 (GRCm39) |
R262Q |
possibly damaging |
Het |
| Sdcbp2 |
T |
C |
2: 151,429,150 (GRCm39) |
V183A |
probably benign |
Het |
| Slfn2 |
C |
G |
11: 82,960,427 (GRCm39) |
I135M |
possibly damaging |
Het |
| Sntg1 |
T |
A |
1: 8,484,491 (GRCm39) |
D443V |
possibly damaging |
Het |
| Tas2r105 |
G |
A |
6: 131,663,913 (GRCm39) |
Q172* |
probably null |
Het |
| Tfdp2 |
A |
G |
9: 96,172,637 (GRCm39) |
R44G |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,248,480 (GRCm39) |
C463S |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,897,646 (GRCm39) |
V807A |
possibly damaging |
Het |
| Trim68 |
T |
A |
7: 102,327,808 (GRCm39) |
K382* |
probably null |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,823 (GRCm39) |
I251F |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,915,325 (GRCm39) |
R91* |
probably null |
Het |
| Vmn2r-ps117 |
G |
A |
17: 19,044,943 (GRCm39) |
W453* |
probably null |
Het |
| Zc3h18 |
T |
C |
8: 123,134,193 (GRCm39) |
V553A |
unknown |
Het |
| Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
| Zfp791 |
A |
G |
8: 85,837,327 (GRCm39) |
F179S |
probably benign |
Het |
| Zyg11a |
A |
T |
4: 108,041,628 (GRCm39) |
|
probably null |
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 |
|
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'- CTCAGCAAGCACACTGTCATTAG -3'
(R):5'- ATCTACTTGCCAGTTGCTTGGG -3'
Sequencing Primer
(F):5'- CAAGCACACTGTCATTAGAGAAAAG -3'
(R):5'- GGGGTTCTTTCTGCTCTACATCTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation