Incidental Mutation 'R5851:Msh3'
| ID |
454691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh3
|
| Ensembl Gene |
ENSMUSG00000014850 |
| Gene Name |
mutS homolog 3 |
| Synonyms |
Rep3, D13Em1, Rep-3 |
| MMRRC Submission |
044067-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R5851 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 92352030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 1041
(Q1041K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000190761]
[ENSMUST00000191550]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022220
AA Change: Q1041K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: Q1041K
| 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: Q1042K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: Q1042K
| 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: ENSMUST00000186392
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190761
|
| SMART Domains |
Protein: ENSMUSP00000140402
Gene: ENSMUSG00000014850
| Domain | Start | End | E-Value | Type |
|---|
|
MUTSac
|
1 |
128 |
2.3e-31 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191304
|
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (75/75) |
| 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 |
|---|
| Abca2 |
A |
G |
2: 25,332,322 (GRCm39) |
N1452D |
possibly damaging |
Het |
| Abhd15 |
T |
C |
11: 77,409,273 (GRCm39) |
L329P |
probably benign |
Het |
| Add3 |
T |
C |
19: 53,225,205 (GRCm39) |
S442P |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,484,980 (GRCm39) |
F228L |
probably damaging |
Het |
| Bptf |
A |
T |
11: 107,001,688 (GRCm39) |
Y475N |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,518,612 (GRCm39) |
N1257S |
probably null |
Het |
| Cdkl1 |
A |
T |
12: 69,803,338 (GRCm39) |
Y179* |
probably null |
Het |
| Ceacam1 |
T |
C |
7: 25,174,025 (GRCm39) |
N210S |
possibly damaging |
Het |
| Celf3 |
T |
A |
3: 94,386,433 (GRCm39) |
I7N |
probably damaging |
Het |
| Clxn |
T |
A |
16: 14,738,300 (GRCm39) |
L155H |
probably damaging |
Het |
| Cmpk1 |
A |
G |
4: 114,844,167 (GRCm39) |
V55A |
possibly damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,802,144 (GRCm39) |
G305D |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,638,585 (GRCm39) |
S1266P |
possibly damaging |
Het |
| Edc4 |
T |
C |
8: 106,617,499 (GRCm39) |
L1077P |
probably damaging |
Het |
| Fam174a |
G |
A |
1: 95,252,868 (GRCm39) |
G157S |
probably damaging |
Het |
| Fubp3 |
T |
A |
2: 31,488,622 (GRCm39) |
D159E |
probably benign |
Het |
| Garem2 |
C |
T |
5: 30,319,288 (GRCm39) |
T250M |
probably damaging |
Het |
| H2-Eb1 |
C |
T |
17: 34,528,745 (GRCm39) |
P92L |
probably benign |
Het |
| Ifnl3 |
G |
T |
7: 28,222,936 (GRCm39) |
C69F |
probably damaging |
Het |
| Itga2b |
C |
A |
11: 102,348,427 (GRCm39) |
|
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,130,335 (GRCm39) |
D386E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Loricrin |
G |
A |
3: 91,987,846 (GRCm39) |
A480V |
unknown |
Het |
| Mtrex |
G |
A |
13: 113,045,486 (GRCm39) |
R349W |
probably damaging |
Het |
| Myo1e |
G |
A |
9: 70,291,086 (GRCm39) |
G959E |
probably benign |
Het |
| Nfat5 |
G |
T |
8: 108,074,359 (GRCm39) |
V338L |
probably damaging |
Het |
| Nrf1 |
A |
G |
6: 30,089,975 (GRCm39) |
H18R |
possibly damaging |
Het |
| Nup160 |
A |
G |
2: 90,537,382 (GRCm39) |
D752G |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,885,526 (GRCm39) |
L2489* |
probably null |
Het |
| Or4p22 |
A |
G |
2: 88,317,204 (GRCm39) |
I43V |
possibly damaging |
Het |
| Or51q1c |
A |
G |
7: 103,652,659 (GRCm39) |
E59G |
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,577,301 (GRCm39) |
S215P |
possibly damaging |
Het |
| Pate2 |
T |
A |
9: 35,581,797 (GRCm39) |
Y26* |
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,545,811 (GRCm39) |
I296V |
probably benign |
Het |
| Pdzph1 |
T |
G |
17: 59,280,741 (GRCm39) |
T514P |
probably benign |
Het |
| Pnlip |
G |
A |
19: 58,662,224 (GRCm39) |
W123* |
probably null |
Het |
| Prmt2 |
C |
A |
10: 76,072,574 (GRCm39) |
C9F |
possibly damaging |
Het |
| Rbl1 |
T |
A |
2: 157,009,245 (GRCm39) |
K763N |
probably benign |
Het |
| Rfk |
C |
T |
19: 17,372,562 (GRCm39) |
A28V |
probably damaging |
Het |
| Scart1 |
C |
T |
7: 139,807,940 (GRCm39) |
P704S |
possibly damaging |
Het |
| Sdk1 |
G |
A |
5: 141,948,424 (GRCm39) |
V590I |
probably benign |
Het |
| Sele |
A |
G |
1: 163,877,143 (GRCm39) |
K140E |
probably benign |
Het |
| Sla |
G |
A |
15: 66,655,572 (GRCm39) |
T189I |
probably damaging |
Het |
| Slc46a2 |
A |
G |
4: 59,913,906 (GRCm39) |
V339A |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,742,797 (GRCm39) |
F432L |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,839,859 (GRCm39) |
F141S |
possibly damaging |
Het |
| Tas2r123 |
T |
C |
6: 132,824,271 (GRCm39) |
L56S |
probably damaging |
Het |
| Tektip1 |
A |
T |
10: 81,200,711 (GRCm39) |
|
probably null |
Het |
| Tmem245 |
T |
C |
4: 56,916,770 (GRCm39) |
I53V |
probably benign |
Het |
| Tor2a |
A |
T |
2: 32,651,619 (GRCm39) |
Q278L |
probably benign |
Het |
| Trav6-3 |
A |
G |
14: 53,667,572 (GRCm39) |
M15V |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,383,335 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
G |
A |
4: 41,206,268 (GRCm39) |
Q534* |
probably null |
Het |
| Yju2 |
C |
T |
17: 56,274,582 (GRCm39) |
S298F |
probably damaging |
Het |
| Zfp954 |
C |
A |
7: 7,118,624 (GRCm39) |
E307* |
probably null |
Het |
| Zscan21 |
A |
G |
5: 138,124,740 (GRCm39) |
K219E |
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 |
|
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 |
|
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'- ACAGAAGCTGCACTCCAGAG -3'
(R):5'- ATGTTTAGACCATTCCCCTGAACAG -3'
Sequencing Primer
(F):5'- TGCACTCCAGAGGCACTG -3'
(R):5'- ATTCCCCTGAACAGAGGCCG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation