Incidental Mutation 'R7098:Msh3'
ID |
550664 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Msh3
|
Ensembl Gene |
ENSMUSG00000014850 |
Gene Name |
mutS homolog 3 |
Synonyms |
Rep3, D13Em1, Rep-3 |
MMRRC Submission |
045190-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
R7098 (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 92410619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 656
(D656E)
|
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: D656E
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 |
possibly damaging
Transcript: ENSMUST00000185852
AA Change: D656E
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140002 Gene: ENSMUSG00000014850 AA Change: D656E
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (78/78) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
T |
A |
5: 138,644,784 (GRCm39) |
M223K |
probably benign |
Het |
Abce1 |
T |
C |
8: 80,412,678 (GRCm39) |
T550A |
probably benign |
Het |
Acoxl |
C |
T |
2: 127,696,835 (GRCm39) |
Q28* |
probably null |
Het |
Adam8 |
T |
C |
7: 139,559,412 (GRCm39) |
K820R |
possibly damaging |
Het |
Adamts3 |
G |
T |
5: 90,009,354 (GRCm39) |
A103D |
probably damaging |
Het |
Apba2 |
T |
A |
7: 64,386,696 (GRCm39) |
V441D |
probably damaging |
Het |
Arap2 |
A |
G |
5: 62,833,293 (GRCm39) |
|
probably null |
Het |
Arhgef10l |
T |
A |
4: 140,308,222 (GRCm39) |
M44L |
probably benign |
Het |
Asb4 |
T |
C |
6: 5,398,499 (GRCm39) |
C155R |
probably damaging |
Het |
Bpifb6 |
A |
T |
2: 153,748,810 (GRCm39) |
K269* |
probably null |
Het |
Cc2d2a |
A |
T |
5: 43,840,481 (GRCm39) |
T161S |
probably benign |
Het |
Ccdc15 |
T |
A |
9: 37,255,256 (GRCm39) |
Q98L |
probably damaging |
Het |
Col19a1 |
A |
G |
1: 24,565,555 (GRCm39) |
S259P |
unknown |
Het |
Col5a2 |
A |
T |
1: 45,419,227 (GRCm39) |
D1284E |
possibly damaging |
Het |
Cyp2c70 |
T |
C |
19: 40,168,931 (GRCm39) |
T119A |
probably benign |
Het |
Dennd6b |
C |
T |
15: 89,072,890 (GRCm39) |
C188Y |
probably damaging |
Het |
Dhx8 |
T |
A |
11: 101,628,594 (GRCm39) |
|
probably null |
Het |
Dhx9 |
T |
C |
1: 153,340,768 (GRCm39) |
K624R |
probably benign |
Het |
Dpys |
C |
T |
15: 39,656,727 (GRCm39) |
V447M |
probably damaging |
Het |
E130308A19Rik |
T |
C |
4: 59,753,004 (GRCm39) |
S706P |
possibly damaging |
Het |
Esrrb |
A |
G |
12: 86,517,189 (GRCm39) |
D107G |
probably benign |
Het |
Frmd4a |
T |
C |
2: 4,577,244 (GRCm39) |
S367P |
probably damaging |
Het |
Garin2 |
G |
A |
12: 78,766,408 (GRCm39) |
|
probably null |
Het |
Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
Gm136 |
T |
C |
4: 34,746,628 (GRCm39) |
I128V |
probably benign |
Het |
Gm6525 |
T |
A |
3: 84,082,309 (GRCm39) |
C77S |
possibly damaging |
Het |
Grid2ip |
T |
C |
5: 143,343,346 (GRCm39) |
F14S |
probably damaging |
Het |
Hdhd3 |
C |
T |
4: 62,418,152 (GRCm39) |
R8H |
probably damaging |
Het |
Kdelr1 |
C |
A |
7: 45,523,480 (GRCm39) |
A69D |
possibly damaging |
Het |
Krtap16-3 |
T |
A |
16: 88,759,560 (GRCm39) |
Y51F |
unknown |
Het |
Lrrc40 |
T |
A |
3: 157,747,276 (GRCm39) |
N129K |
probably benign |
Het |
Man1b1 |
T |
A |
2: 25,228,196 (GRCm39) |
D155E |
probably damaging |
Het |
Mcm5 |
T |
C |
8: 75,847,529 (GRCm39) |
V442A |
probably damaging |
Het |
Mfsd14a |
C |
T |
3: 116,435,361 (GRCm39) |
A235T |
probably benign |
Het |
Mmp1a |
C |
A |
9: 7,475,938 (GRCm39) |
T401K |
probably benign |
Het |
Mpig6b |
C |
T |
17: 35,283,320 (GRCm39) |
R196Q |
unknown |
Het |
Mroh1 |
C |
T |
15: 76,292,657 (GRCm39) |
Q262* |
probably null |
Het |
Muc4 |
A |
T |
16: 32,577,465 (GRCm39) |
T252S |
|
Het |
Myh15 |
C |
T |
16: 48,997,420 (GRCm39) |
A1746V |
possibly damaging |
Het |
Myh8 |
C |
A |
11: 67,169,879 (GRCm39) |
T66K |
probably benign |
Het |
Nemf |
A |
T |
12: 69,359,241 (GRCm39) |
Y999N |
probably damaging |
Het |
Neurod1 |
T |
C |
2: 79,285,029 (GRCm39) |
N118S |
probably damaging |
Het |
Nlrp1b |
T |
A |
11: 71,109,100 (GRCm39) |
I134L |
possibly damaging |
Het |
Nsun7 |
A |
T |
5: 66,418,326 (GRCm39) |
I19F |
probably damaging |
Het |
Ofcc1 |
A |
G |
13: 40,157,442 (GRCm39) |
|
probably null |
Het |
P2rx7 |
A |
G |
5: 122,811,856 (GRCm39) |
E389G |
probably damaging |
Het |
Pam |
C |
T |
1: 97,826,072 (GRCm39) |
R194H |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,220,673 (GRCm39) |
S2052P |
probably benign |
Het |
Pfkfb4 |
T |
A |
9: 108,828,222 (GRCm39) |
Y86N |
probably benign |
Het |
Plcd3 |
T |
A |
11: 102,968,689 (GRCm39) |
D334V |
probably damaging |
Het |
Ppard |
T |
C |
17: 28,517,787 (GRCm39) |
V285A |
possibly damaging |
Het |
Prune2 |
A |
G |
19: 17,097,966 (GRCm39) |
S1157G |
probably benign |
Het |
Psg21 |
A |
T |
7: 18,386,470 (GRCm39) |
L172H |
probably damaging |
Het |
Psme4 |
C |
A |
11: 30,800,661 (GRCm39) |
T1417K |
probably damaging |
Het |
Ptprc |
T |
C |
1: 138,027,423 (GRCm39) |
D336G |
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,837,095 (GRCm39) |
|
probably null |
Het |
Rap1gap |
C |
A |
4: 137,443,393 (GRCm39) |
|
probably null |
Het |
Scap |
T |
C |
9: 110,201,310 (GRCm39) |
S100P |
possibly damaging |
Het |
Scpep1 |
T |
C |
11: 88,820,011 (GRCm39) |
I426V |
possibly damaging |
Het |
Sdk1 |
T |
C |
5: 142,082,625 (GRCm39) |
I1341T |
probably damaging |
Het |
Sfmbt2 |
T |
A |
2: 10,584,000 (GRCm39) |
Y786N |
probably benign |
Het |
Sh3tc1 |
A |
T |
5: 35,859,358 (GRCm39) |
|
probably null |
Het |
Slc5a5 |
T |
A |
8: 71,341,182 (GRCm39) |
I386F |
probably damaging |
Het |
Smarca4 |
T |
G |
9: 21,546,116 (GRCm39) |
M98R |
probably benign |
Het |
St18 |
G |
A |
1: 6,898,066 (GRCm39) |
D623N |
probably damaging |
Het |
Sult2a1 |
A |
T |
7: 13,549,978 (GRCm39) |
|
probably null |
Het |
Tgfb2 |
C |
T |
1: 186,362,834 (GRCm39) |
R330H |
probably damaging |
Het |
Thoc3 |
A |
G |
13: 54,614,119 (GRCm39) |
I168T |
probably damaging |
Het |
Tmem126a |
C |
T |
7: 90,100,062 (GRCm39) |
M160I |
possibly damaging |
Het |
Tmem200b |
C |
T |
4: 131,649,704 (GRCm39) |
P208L |
probably benign |
Het |
Tnrc6c |
T |
C |
11: 117,604,952 (GRCm39) |
V29A |
probably benign |
Het |
Tsc1 |
C |
T |
2: 28,565,744 (GRCm39) |
S465F |
probably benign |
Het |
Ttll5 |
A |
G |
12: 85,964,447 (GRCm39) |
|
probably null |
Het |
Unc13d |
G |
T |
11: 115,954,552 (GRCm39) |
L1019I |
probably damaging |
Het |
Vmn2r102 |
A |
T |
17: 19,914,670 (GRCm39) |
H745L |
probably damaging |
Het |
Wars2 |
T |
G |
3: 99,123,957 (GRCm39) |
S273A |
probably damaging |
Het |
Xrcc6 |
C |
A |
15: 81,919,955 (GRCm39) |
S498* |
probably null |
Het |
Ybx1 |
A |
T |
4: 119,140,050 (GRCm39) |
N92K |
possibly 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 |
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'- CCGTACCGTCGCTTATAACAAC -3'
(R):5'- ATCCTCAGAAGTTAAGGAGTGTTTC -3'
Sequencing Primer
(F):5'- GGCTTTTCTACTCCAGGAAAACAG -3'
(R):5'- CCATAACTATTCAGTGGCAGAGCTG -3'
|
Posted On |
2019-05-15 |