Incidental Mutation 'IGL03108:Msh3'
| ID |
419093 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03108
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
92348387-92491515 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 92357596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140659
(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
|
| 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 benign
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 |
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 |
|
| Coding Region Coverage |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
A |
13: 81,707,648 (GRCm39) |
V1253F |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,557,574 (GRCm39) |
W296R |
probably damaging |
Het |
| Armh3 |
G |
A |
19: 45,808,792 (GRCm39) |
T633I |
probably damaging |
Het |
| Btbd3 |
T |
C |
2: 138,126,043 (GRCm39) |
V409A |
possibly damaging |
Het |
| C130050O18Rik |
A |
T |
5: 139,400,820 (GRCm39) |
D291V |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,955,848 (GRCm39) |
N318D |
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,945,543 (GRCm39) |
D22E |
possibly damaging |
Het |
| Chrnb2 |
G |
A |
3: 89,670,681 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,029,162 (GRCm39) |
G550D |
probably damaging |
Het |
| Cryl1 |
T |
C |
14: 57,550,534 (GRCm39) |
D110G |
probably damaging |
Het |
| Deaf1 |
A |
G |
7: 140,902,874 (GRCm39) |
I150T |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,770,747 (GRCm39) |
D33E |
possibly damaging |
Het |
| Fabp12 |
C |
A |
3: 10,315,114 (GRCm39) |
G78C |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,476,651 (GRCm39) |
D1899G |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,744,660 (GRCm39) |
V120I |
probably benign |
Het |
| Ganab |
G |
A |
19: 8,889,840 (GRCm39) |
A635T |
probably damaging |
Het |
| Gm17509 |
G |
A |
13: 117,357,380 (GRCm39) |
|
probably benign |
Het |
| Gstm3 |
A |
T |
3: 107,875,080 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
A |
5: 107,043,800 (GRCm39) |
|
probably benign |
Het |
| Hoxd13 |
A |
C |
2: 74,500,440 (GRCm39) |
D327A |
probably damaging |
Het |
| Ints4 |
G |
T |
7: 97,140,137 (GRCm39) |
|
probably null |
Het |
| Kcna10 |
A |
T |
3: 107,102,259 (GRCm39) |
T297S |
probably benign |
Het |
| Ldb2 |
G |
A |
5: 44,699,057 (GRCm39) |
T127I |
probably damaging |
Het |
| Mapk7 |
T |
C |
11: 61,382,498 (GRCm39) |
D68G |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,217,402 (GRCm39) |
S2359P |
possibly damaging |
Het |
| Mup6 |
A |
T |
4: 60,005,990 (GRCm39) |
I161F |
possibly damaging |
Het |
| Nup160 |
G |
A |
2: 90,534,169 (GRCm39) |
V665I |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,073,034 (GRCm39) |
N161S |
possibly damaging |
Het |
| Or14a258 |
T |
C |
7: 86,034,929 (GRCm39) |
Y313C |
possibly damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,533 (GRCm39) |
D296V |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,900,762 (GRCm39) |
V352I |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,064,764 (GRCm39) |
V34D |
probably benign |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,944 (GRCm39) |
|
probably null |
Het |
| Pcdhb8 |
T |
G |
18: 37,490,299 (GRCm39) |
V659G |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,042,234 (GRCm39) |
N1590S |
probably benign |
Het |
| Rnf168 |
G |
T |
16: 32,097,099 (GRCm39) |
R56L |
possibly damaging |
Het |
| Scn8a |
C |
T |
15: 100,872,496 (GRCm39) |
P362S |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,668,562 (GRCm39) |
I468F |
probably damaging |
Het |
| Slc39a14 |
G |
A |
14: 70,556,368 (GRCm39) |
R3W |
probably damaging |
Het |
| Slc7a6 |
T |
A |
8: 106,921,149 (GRCm39) |
N373K |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,080,087 (GRCm39) |
S1955P |
possibly damaging |
Het |
| Stat5a |
T |
A |
11: 100,753,965 (GRCm39) |
Y98* |
probably null |
Het |
| Thsd7b |
G |
T |
1: 130,138,013 (GRCm39) |
G1564C |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,569,206 (GRCm39) |
V1351A |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation