Incidental Mutation 'IGL00491:Msh5'
| ID |
12102 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Msh5
|
| Ensembl Gene |
ENSMUSG00000007035 |
| Gene Name |
mutS homolog 5 |
| Synonyms |
G7, Mut5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00491
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35247581-35265721 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35249706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 613
(V613A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007245]
[ENSMUST00000007250]
[ENSMUST00000040151]
[ENSMUST00000097338]
[ENSMUST00000172499]
[ENSMUST00000172536]
[ENSMUST00000174603]
[ENSMUST00000174037]
[ENSMUST00000174117]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007245
|
| SMART Domains |
Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
VWA
|
314 |
499 |
2.59e0 |
SMART |
|
low complexity region
|
683 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
861 |
N/A |
INTRINSIC |
|
low complexity region
|
864 |
877 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007250
AA Change: V613A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000007250
Gene: ENSMUSG00000007035
AA Change: V613A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
MUTSd
|
248 |
568 |
9.72e-72 |
SMART |
|
MUTSac
|
584 |
775 |
2.2e-61 |
SMART |
|
Blast:MUTSac
|
795 |
833 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040151
|
| SMART Domains |
Protein: ENSMUSP00000047448
Gene: ENSMUSG00000036185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Suppressor_APC
|
35 |
114 |
2.1e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097338
AA Change: V613A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000094951
Gene: ENSMUSG00000007035
AA Change: V613A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
MUTSd
|
248 |
568 |
9.72e-72 |
SMART |
|
MUTSac
|
584 |
775 |
2.2e-61 |
SMART |
|
Blast:MUTSac
|
795 |
833 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172499
|
| SMART Domains |
Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
VWA
|
314 |
478 |
7.28e0 |
SMART |
|
low complexity region
|
662 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
840 |
N/A |
INTRINSIC |
|
low complexity region
|
843 |
856 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172536
|
| SMART Domains |
Protein: ENSMUSP00000134426
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
MUTSd
|
248 |
568 |
9.72e-72 |
SMART |
|
low complexity region
|
604 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173211
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174603
|
| SMART Domains |
Protein: ENSMUSP00000134065
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
MUTSd
|
248 |
493 |
1.67e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174026
|
| SMART Domains |
Protein: ENSMUSP00000134295
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
MUTSac
|
1 |
166 |
4e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174037
|
| SMART Domains |
Protein: ENSMUSP00000133881
Gene: ENSMUSG00000036185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174117
|
| SMART Domains |
Protein: ENSMUSP00000134423
Gene: ENSMUSG00000036185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
84 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the MutS family of proteins that play critical roles in DNA mismatch repair and meiotic homologous recombination processes. Mice lacking the encoded protein are viable but sterile, with severe defects in spermatogenesis in males and complete loss of ovarian structures in females. Mutations in a similar gene in humans have been shown to cause common variable immune deficiency (CVID) and immunoglobulin A deficiency. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit disrupted chromosome pairing in meiosis I resulting in cell death and sterility. In males, testes size is reduced, and in females, there is a total loss of ovarian structure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,171,113 (GRCm39) |
S1870Y |
possibly damaging |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,753,235 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
T |
A |
10: 61,699,784 (GRCm39) |
|
probably null |
Het |
| Dgkq |
A |
G |
5: 108,802,448 (GRCm39) |
S417P |
possibly damaging |
Het |
| Dnah1 |
A |
G |
14: 30,983,796 (GRCm39) |
Y4016H |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,313,713 (GRCm39) |
V136A |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,792,827 (GRCm39) |
T944A |
probably damaging |
Het |
| Gm10351 |
A |
T |
7: 42,749,217 (GRCm39) |
|
noncoding transcript |
Het |
| Mettl9 |
T |
A |
7: 120,651,336 (GRCm39) |
V17E |
probably damaging |
Het |
| Nup54 |
T |
A |
5: 92,565,344 (GRCm39) |
I458L |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,125,996 (GRCm39) |
N365D |
probably damaging |
Het |
| Patl1 |
T |
A |
19: 11,907,251 (GRCm39) |
N378K |
probably benign |
Het |
| Plcl1 |
T |
C |
1: 55,752,657 (GRCm39) |
|
probably null |
Het |
| Polk |
A |
T |
13: 96,633,268 (GRCm39) |
D258E |
probably benign |
Het |
| Ppm1f |
T |
C |
16: 16,741,777 (GRCm39) |
L417P |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,255 (GRCm39) |
I225V |
probably benign |
Het |
| Robo4 |
A |
T |
9: 37,317,231 (GRCm39) |
K463N |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,069,477 (GRCm39) |
D1019E |
probably damaging |
Het |
| Spock1 |
C |
A |
13: 57,704,619 (GRCm39) |
R116S |
possibly damaging |
Het |
| Stambp |
G |
T |
6: 83,533,280 (GRCm39) |
L328I |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,010,889 (GRCm39) |
C598R |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,210,261 (GRCm39) |
|
probably benign |
Het |
| Tpra1 |
A |
G |
6: 88,887,390 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,800,418 (GRCm39) |
E544G |
probably damaging |
Het |
|
| Other mutations in Msh5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Msh5
|
APN |
17 |
35,248,857 (GRCm39) |
nonsense |
probably null |
|
|
IGL01364:Msh5
|
APN |
17 |
35,247,745 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0189:Msh5
|
UTSW |
17 |
35,248,630 (GRCm39) |
missense |
probably null |
0.97 |
|
R0257:Msh5
|
UTSW |
17 |
35,251,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0346:Msh5
|
UTSW |
17 |
35,248,864 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0449:Msh5
|
UTSW |
17 |
35,260,458 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0645:Msh5
|
UTSW |
17 |
35,258,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Msh5
|
UTSW |
17 |
35,248,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1929:Msh5
|
UTSW |
17 |
35,263,366 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1970:Msh5
|
UTSW |
17 |
35,252,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2025:Msh5
|
UTSW |
17 |
35,251,768 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2038:Msh5
|
UTSW |
17 |
35,265,016 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2058:Msh5
|
UTSW |
17 |
35,248,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2271:Msh5
|
UTSW |
17 |
35,263,366 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2408:Msh5
|
UTSW |
17 |
35,264,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3079:Msh5
|
UTSW |
17 |
35,265,208 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4409:Msh5
|
UTSW |
17 |
35,258,226 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4513:Msh5
|
UTSW |
17 |
35,249,664 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4878:Msh5
|
UTSW |
17 |
35,257,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Msh5
|
UTSW |
17 |
35,257,396 (GRCm39) |
nonsense |
probably null |
|
|
R5037:Msh5
|
UTSW |
17 |
35,251,369 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5063:Msh5
|
UTSW |
17 |
35,261,164 (GRCm39) |
splice site |
probably null |
|
|
R5064:Msh5
|
UTSW |
17 |
35,262,759 (GRCm39) |
intron |
probably benign |
|
|
R5103:Msh5
|
UTSW |
17 |
35,248,215 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5872:Msh5
|
UTSW |
17 |
35,248,628 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6320:Msh5
|
UTSW |
17 |
35,248,900 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6869:Msh5
|
UTSW |
17 |
35,260,810 (GRCm39) |
splice site |
probably null |
|
|
R6997:Msh5
|
UTSW |
17 |
35,248,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Msh5
|
UTSW |
17 |
35,263,355 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8030:Msh5
|
UTSW |
17 |
35,248,724 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8354:Msh5
|
UTSW |
17 |
35,250,742 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8384:Msh5
|
UTSW |
17 |
35,249,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8671:Msh5
|
UTSW |
17 |
35,264,909 (GRCm39) |
nonsense |
probably null |
|
|
R8804:Msh5
|
UTSW |
17 |
35,251,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9572:Msh5
|
UTSW |
17 |
35,250,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation