Incidental Mutation 'R2038:Msh5'
| ID |
225361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh5
|
| Ensembl Gene |
ENSMUSG00000007035 |
| Gene Name |
mutS homolog 5 |
| Synonyms |
G7, Mut5 |
| MMRRC Submission |
040045-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2038 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35247581-35265721 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35265016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 53
(V53A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007250]
[ENSMUST00000007257]
[ENSMUST00000097338]
[ENSMUST00000172491]
[ENSMUST00000172536]
[ENSMUST00000174603]
[ENSMUST00000174556]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007250
AA Change: V53A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000007250
Gene: ENSMUSG00000007035
AA Change: V53A
| 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: ENSMUST00000007257
|
| SMART Domains |
Protein: ENSMUSP00000007257
Gene: ENSMUSG00000007041
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N_3
|
21 |
92 |
4.8e-11 |
PFAM |
|
Pfam:GST_N_2
|
23 |
87 |
3.3e-10 |
PFAM |
|
Pfam:GST_C_2
|
123 |
212 |
3.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097338
AA Change: V53A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000094951
Gene: ENSMUSG00000007035
AA Change: V53A
| 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 |
noncoding transcript
Transcript: ENSMUST00000158934
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165329
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172491
|
| SMART Domains |
Protein: ENSMUSP00000133415
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
48 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172536
AA Change: V53A
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134426
Gene: ENSMUSG00000007035
AA Change: V53A
| 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 |
probably benign
Transcript: ENSMUST00000174603
AA Change: V53A
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134065
Gene: ENSMUSG00000007035
AA Change: V53A
| 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 |
silent
Transcript: ENSMUST00000174556
|
| SMART Domains |
Protein: ENSMUSP00000134061
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174741
|
| SMART Domains |
Protein: ENSMUSP00000133997
Gene: ENSMUSG00000007035
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MUTSd
|
106 |
140 |
1e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173928
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
T |
C |
8: 125,389,762 (GRCm39) |
Y54C |
probably damaging |
Het |
| Adgrf4 |
A |
T |
17: 42,978,754 (GRCm39) |
H196Q |
probably damaging |
Het |
| Astn1 |
T |
G |
1: 158,484,690 (GRCm39) |
S918A |
probably benign |
Het |
| Cd79a |
A |
T |
7: 24,598,782 (GRCm39) |
K110N |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,633,114 (GRCm39) |
Q105* |
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,148,366 (GRCm39) |
D2667G |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,224,775 (GRCm39) |
G168R |
probably damaging |
Het |
| Col8a2 |
T |
C |
4: 126,205,108 (GRCm39) |
|
probably benign |
Het |
| Ddx27 |
G |
A |
2: 166,875,675 (GRCm39) |
E669K |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,977,255 (GRCm39) |
I2898F |
probably damaging |
Het |
| Dus2 |
T |
C |
8: 106,775,294 (GRCm39) |
Y274H |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,967,226 (GRCm39) |
S4073P |
probably damaging |
Het |
| Dynlrb2 |
G |
A |
8: 117,241,549 (GRCm39) |
R31Q |
possibly damaging |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,351,868 (GRCm39) |
L1119Q |
probably benign |
Het |
| H2-T10 |
T |
C |
17: 36,430,317 (GRCm39) |
K212E |
probably benign |
Het |
| H60b |
A |
T |
10: 22,162,114 (GRCm39) |
N113I |
probably benign |
Het |
| Hace1 |
A |
C |
10: 45,576,721 (GRCm39) |
K798Q |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,696,151 (GRCm39) |
R631H |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,190,928 (GRCm39) |
I153F |
probably benign |
Het |
| Lman1 |
T |
C |
18: 66,131,681 (GRCm39) |
T101A |
probably benign |
Het |
| Mapk8 |
A |
T |
14: 33,110,893 (GRCm39) |
C245* |
probably null |
Het |
| Mfhas1 |
T |
A |
8: 36,058,431 (GRCm39) |
W969R |
probably damaging |
Het |
| Mlxipl |
A |
T |
5: 135,135,853 (GRCm39) |
D26V |
probably damaging |
Het |
| Msl2 |
C |
A |
9: 100,979,183 (GRCm39) |
A519D |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,245,503 (GRCm39) |
S176G |
probably benign |
Het |
| Ninl |
T |
A |
2: 150,817,763 (GRCm39) |
K134* |
probably null |
Het |
| Or10d1 |
A |
G |
9: 39,484,283 (GRCm39) |
S91P |
probably damaging |
Het |
| Or1e25 |
T |
A |
11: 73,494,239 (GRCm39) |
Y278N |
probably damaging |
Het |
| Or4a68 |
C |
A |
2: 89,269,689 (GRCm39) |
M311I |
probably benign |
Het |
| Pabpn1 |
T |
G |
14: 55,134,609 (GRCm39) |
I250S |
probably damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,542,539 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,025 (GRCm39) |
S316P |
possibly damaging |
Het |
| Scn7a |
C |
A |
2: 66,567,780 (GRCm39) |
W271C |
probably damaging |
Het |
| Set |
T |
C |
2: 29,960,212 (GRCm39) |
S182P |
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,620,618 (GRCm39) |
T321A |
possibly damaging |
Het |
| Sfpq |
A |
T |
4: 126,915,295 (GRCm39) |
H29L |
unknown |
Het |
| Slc33a1 |
A |
G |
3: 63,855,577 (GRCm39) |
L356P |
probably damaging |
Het |
| Sptbn1 |
C |
G |
11: 30,109,293 (GRCm39) |
|
probably null |
Het |
| Srrd |
C |
T |
5: 112,486,316 (GRCm39) |
G179D |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,456 (GRCm39) |
S312P |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,093,794 (GRCm39) |
L566* |
probably null |
Het |
| Tln2 |
T |
A |
9: 67,304,935 (GRCm39) |
M1L |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,163,497 (GRCm39) |
F702L |
probably benign |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,637 (GRCm39) |
G419R |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,884,887 (GRCm39) |
S3187G |
probably damaging |
Het |
| Vps13d |
C |
A |
4: 144,907,685 (GRCm39) |
|
probably null |
Het |
| Vps35l |
T |
C |
7: 118,411,097 (GRCm39) |
F677L |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,688,507 (GRCm39) |
E23V |
probably null |
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 |
|
|
IGL00491:Msh5
|
APN |
17 |
35,249,706 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTATGAGTGAACACACGTCC -3'
(R):5'- TGAATGCTGCTTTTGGACCTC -3'
Sequencing Primer
(F):5'- CCACCCCAGAGGAGAGGAATG -3'
(R):5'- ATGTCCTCAGAGTCGCCGAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation