Incidental Mutation 'S24628:Msh3'
ID |
385667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Msh3
|
Ensembl Gene |
ENSMUSG00000014850 |
Gene Name |
mutS homolog 3 |
Synonyms |
Rep3, Rep-3, D13Em1 |
Accession Numbers |
|
Is this an essential gene? |
Possibly non essential
(E-score: 0.281)
|
Stock # |
S24628 ()
of strain
waterfowl
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
92211872-92355003 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92346786 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 283
(V283A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022220
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022220]
[ENSMUST00000185852]
[ENSMUST00000187424]
[ENSMUST00000187874]
[ENSMUST00000190393]
[ENSMUST00000191509]
[ENSMUST00000191550]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022220
AA Change: V283A
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000022220 Gene: ENSMUSG00000014850 AA Change: V283A
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: V283A
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140002 Gene: ENSMUSG00000014850 AA Change: V283A
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 |
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 |
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: 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 |
|
Meta Mutation Damage Score |
0.1795  |
Coding Region Coverage |
- 1x: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 88.0%
|
Validation Efficiency |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
G |
A |
17: 55,852,288 |
V658I |
probably benign |
Het |
Ccdc40 |
T |
C |
11: 119,232,118 |
Y249H |
possibly damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,111,524 |
T223S |
unknown |
Homo |
Gbp4 |
G |
A |
5: 105,121,106 |
R394C |
possibly damaging |
Het |
Gpr183 |
C |
A |
14: 121,954,476 |
C211F |
probably damaging |
Homo |
Lcp1 |
A |
T |
14: 75,227,006 |
I556F |
possibly damaging |
Het |
Letm1 |
G |
A |
5: 33,747,444 |
P513S |
probably benign |
Het |
Letm1 |
G |
A |
5: 33,747,446 |
P512L |
probably benign |
Het |
Nfkb2 |
G |
T |
19: 46,307,567 |
E170D |
probably benign |
Het |
Npr3 |
C |
A |
15: 11,848,563 |
M439I |
probably benign |
Het |
Olfr1023 |
A |
T |
2: 85,887,438 |
I213F |
possibly damaging |
Het |
Olfr1034 |
A |
T |
2: 86,047,055 |
H191L |
probably benign |
Het |
Pax5 |
G |
A |
4: 44,691,886 |
A120V |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,337,499 |
Y609C |
probably damaging |
Het |
Plxna1 |
G |
A |
6: 89,357,336 |
H104Y |
probably benign |
Homo |
Rnf213 |
A |
T |
11: 119,414,469 |
I509F |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,869,156 |
S213G |
probably damaging |
Homo |
Spint1 |
A |
G |
2: 119,245,615 |
T231A |
probably damaging |
Het |
Tbcel |
C |
A |
9: 42,444,500 |
C139F |
probably benign |
Het |
Thbs2 |
A |
C |
17: 14,679,973 |
S573A |
probably benign |
Het |
Tmem43 |
C |
A |
6: 91,482,318 |
P257Q |
probably benign |
Homo |
Tmprss13 |
A |
G |
9: 45,337,132 |
|
probably null |
Het |
Tnc |
C |
T |
4: 64,018,012 |
G229D |
probably damaging |
Homo |
Ugt1a10 |
TTCATCA |
TTCA |
1: 88,216,158 |
|
probably benign |
Het |
Vmn1r196 |
T |
A |
13: 22,293,836 |
V215D |
probably damaging |
Homo |
Vmn1r22 |
G |
T |
6: 57,900,332 |
T220K |
probably benign |
Homo |
Vmn2r116 |
G |
A |
17: 23,387,279 |
M388I |
possibly damaging |
Het |
Zap70 |
A |
G |
1: 36,770,811 |
M1V |
probably null |
Homo |
Zfp282 |
A |
G |
6: 47,897,881 |
D340G |
probably damaging |
Homo |
Zfp282 |
T |
A |
6: 47,905,053 |
I558N |
possibly damaging |
Homo |
|
Other mutations in Msh3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00895:Msh3
|
APN |
13 |
92344964 |
missense |
probably damaging |
1.00 |
IGL00983:Msh3
|
APN |
13 |
92300277 |
missense |
probably damaging |
1.00 |
IGL01490:Msh3
|
APN |
13 |
92300305 |
missense |
probably damaging |
1.00 |
IGL02072:Msh3
|
APN |
13 |
92300295 |
missense |
probably damaging |
1.00 |
IGL02313:Msh3
|
APN |
13 |
92349312 |
missense |
possibly damaging |
0.86 |
IGL02711:Msh3
|
APN |
13 |
92351311 |
missense |
probably damaging |
1.00 |
IGL03108:Msh3
|
APN |
13 |
92221088 |
splice site |
probably benign |
|
IGL03227:Msh3
|
APN |
13 |
92285960 |
missense |
probably damaging |
0.98 |
R0164:Msh3
|
UTSW |
13 |
92349209 |
missense |
probably damaging |
1.00 |
R0164:Msh3
|
UTSW |
13 |
92349209 |
missense |
probably damaging |
1.00 |
R0415:Msh3
|
UTSW |
13 |
92346786 |
missense |
possibly damaging |
0.89 |
R0457:Msh3
|
UTSW |
13 |
92220997 |
missense |
probably damaging |
1.00 |
R0659:Msh3
|
UTSW |
13 |
92345096 |
missense |
possibly damaging |
0.80 |
R0661:Msh3
|
UTSW |
13 |
92345096 |
missense |
possibly damaging |
0.80 |
R0686:Msh3
|
UTSW |
13 |
92351431 |
missense |
possibly damaging |
0.53 |
R0688:Msh3
|
UTSW |
13 |
92351431 |
missense |
possibly damaging |
0.53 |
R0707:Msh3
|
UTSW |
13 |
92347340 |
nonsense |
probably null |
|
R1605:Msh3
|
UTSW |
13 |
92300275 |
missense |
probably null |
1.00 |
R1622:Msh3
|
UTSW |
13 |
92344954 |
critical splice donor site |
probably null |
|
R1771:Msh3
|
UTSW |
13 |
92212496 |
missense |
probably benign |
0.05 |
R1970:Msh3
|
UTSW |
13 |
92249820 |
splice site |
probably benign |
|
R1971:Msh3
|
UTSW |
13 |
92223276 |
missense |
probably damaging |
1.00 |
R1971:Msh3
|
UTSW |
13 |
92249820 |
splice site |
probably benign |
|
R2894:Msh3
|
UTSW |
13 |
92342360 |
missense |
probably benign |
0.16 |
R3837:Msh3
|
UTSW |
13 |
92354858 |
missense |
probably damaging |
1.00 |
R4119:Msh3
|
UTSW |
13 |
92354011 |
intron |
probably benign |
|
R4225:Msh3
|
UTSW |
13 |
92285923 |
missense |
probably benign |
0.03 |
R4881:Msh3
|
UTSW |
13 |
92266041 |
intron |
probably benign |
|
R5118:Msh3
|
UTSW |
13 |
92309434 |
splice site |
probably benign |
|
R5209:Msh3
|
UTSW |
13 |
92344954 |
critical splice donor site |
probably null |
|
R5817:Msh3
|
UTSW |
13 |
92286000 |
missense |
possibly damaging |
0.86 |
R5849:Msh3
|
UTSW |
13 |
92249878 |
missense |
possibly damaging |
0.81 |
R5851:Msh3
|
UTSW |
13 |
92215522 |
missense |
probably benign |
0.00 |
R5940:Msh3
|
UTSW |
13 |
92249843 |
missense |
probably damaging |
1.00 |
R6004:Msh3
|
UTSW |
13 |
92342414 |
critical splice acceptor site |
probably null |
|
R6363:Msh3
|
UTSW |
13 |
92212524 |
missense |
probably damaging |
1.00 |
R6510:Msh3
|
UTSW |
13 |
92353264 |
nonsense |
probably null |
|
R6654:Msh3
|
UTSW |
13 |
92345042 |
missense |
probably benign |
0.01 |
R6853:Msh3
|
UTSW |
13 |
92312572 |
critical splice donor site |
probably null |
|
R7022:Msh3
|
UTSW |
13 |
92235588 |
missense |
probably damaging |
1.00 |
R7098:Msh3
|
UTSW |
13 |
92274111 |
missense |
possibly damaging |
0.95 |
R7103:Msh3
|
UTSW |
13 |
92274800 |
missense |
probably benign |
|
R7148:Msh3
|
UTSW |
13 |
92354822 |
missense |
probably benign |
0.18 |
R7171:Msh3
|
UTSW |
13 |
92349298 |
missense |
probably benign |
0.00 |
R7317:Msh3
|
UTSW |
13 |
92286004 |
missense |
probably damaging |
1.00 |
R7369:Msh3
|
UTSW |
13 |
92299262 |
missense |
probably benign |
0.15 |
R7586:Msh3
|
UTSW |
13 |
92349332 |
utr 3 prime |
probably benign |
|
R7641:Msh3
|
UTSW |
13 |
92212503 |
missense |
probably benign |
0.08 |
R7648:Msh3
|
UTSW |
13 |
92274028 |
missense |
probably damaging |
1.00 |
R7674:Msh3
|
UTSW |
13 |
92212503 |
missense |
probably benign |
0.08 |
R8125:Msh3
|
UTSW |
13 |
92299182 |
missense |
probably benign |
|
R8252:Msh3
|
UTSW |
13 |
92221061 |
missense |
probably damaging |
1.00 |
R8388:Msh3
|
UTSW |
13 |
92223276 |
missense |
probably damaging |
1.00 |
R8442:Msh3
|
UTSW |
13 |
92212512 |
missense |
probably benign |
0.00 |
R8735:Msh3
|
UTSW |
13 |
92274866 |
missense |
possibly damaging |
0.94 |
R8986:Msh3
|
UTSW |
13 |
92346826 |
missense |
probably damaging |
1.00 |
R9264:Msh3
|
UTSW |
13 |
92349304 |
missense |
probably benign |
0.00 |
R9326:Msh3
|
UTSW |
13 |
92263799 |
missense |
probably benign |
0.15 |
R9457:Msh3
|
UTSW |
13 |
92345086 |
missense |
probably benign |
0.04 |
R9459:Msh3
|
UTSW |
13 |
92215539 |
missense |
possibly damaging |
0.91 |
R9648:Msh3
|
UTSW |
13 |
92342249 |
missense |
probably benign |
0.00 |
X0027:Msh3
|
UTSW |
13 |
92274070 |
missense |
probably damaging |
0.98 |
X0063:Msh3
|
UTSW |
13 |
92274785 |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCTCACTGTGACAATGGACAC -3'
(R):5'- TCTGGACATGGAGGATGTTTCC -3'
Sequencing Primer
(F):5'- TGTGACAATGGACACATACCCG -3'
(R):5'- GGATGTTTCCTTATTTTCATTGCTTC -3'
|
Posted On |
2016-05-10 |