Incidental Mutation 'R5046:Hspa12a'
| ID |
394399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa12a
|
| Ensembl Gene |
ENSMUSG00000025092 |
| Gene Name |
heat shock protein 12A |
| Synonyms |
1700063D12Rik, Hspa12a |
| MMRRC Submission |
042636-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.667)
|
| Stock # |
R5046 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
58795751-58860984 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58799545 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 615
(D615G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066285]
|
| AlphaFold |
Q8K0U4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066285
AA Change: D615G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066860
Gene: ENSMUSG00000025092
AA Change: D615G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1bupa1
|
58 |
244 |
4e-14 |
SMART |
|
| Meta Mutation Damage Score |
0.4703 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010F05Rik |
A |
C |
11: 23,620,354 (GRCm38) |
M182R |
probably benign |
Het |
| Acsm4 |
C |
A |
7: 119,703,374 (GRCm38) |
H241N |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,256,799 (GRCm38) |
A693T |
probably damaging |
Het |
| B4galnt3 |
G |
T |
6: 120,214,798 (GRCm38) |
A658D |
probably damaging |
Het |
| Car12 |
G |
A |
9: 66,746,613 (GRCm38) |
E84K |
probably benign |
Het |
| Crocc2 |
T |
A |
1: 93,205,902 (GRCm38) |
S969T |
probably damaging |
Het |
| Crym |
A |
G |
7: 120,195,444 (GRCm38) |
V184A |
possibly damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,465,013 (GRCm38) |
C122R |
probably damaging |
Het |
| Defb30 |
T |
C |
14: 63,036,014 (GRCm38) |
E49G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,951,580 (GRCm38) |
L3161P |
probably damaging |
Het |
| Dnajc5g |
A |
G |
5: 31,109,692 (GRCm38) |
N104S |
probably benign |
Het |
| Fcgr1 |
T |
G |
3: 96,286,986 (GRCm38) |
K195T |
probably damaging |
Het |
| Gal |
C |
T |
19: 3,411,167 (GRCm38) |
R89H |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,948,335 (GRCm38) |
A577V |
probably benign |
Het |
| Gm5116 |
A |
C |
7: 32,495,954 (GRCm38) |
|
noncoding transcript |
Het |
| Golga3 |
A |
T |
5: 110,192,940 (GRCm38) |
Q540L |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,750,388 (GRCm38) |
E2184G |
probably damaging |
Het |
| Igkv14-130 |
A |
T |
6: 67,791,481 (GRCm38) |
Y107F |
probably damaging |
Het |
| Ldlr |
T |
A |
9: 21,745,907 (GRCm38) |
|
probably null |
Het |
| Lin9 |
T |
A |
1: 180,669,198 (GRCm38) |
L351I |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,498,240 (GRCm38) |
S2120T |
unknown |
Het |
| Mtfmt |
G |
T |
9: 65,439,615 (GRCm38) |
V164F |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,833,038 (GRCm38) |
V74A |
probably damaging |
Het |
| Ndufc2 |
G |
T |
7: 97,407,664 (GRCm38) |
R120L |
probably damaging |
Het |
| Neo1 |
A |
T |
9: 58,893,911 (GRCm38) |
V1156D |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,160,072 (GRCm38) |
P1065S |
possibly damaging |
Het |
| Nop9 |
A |
G |
14: 55,745,940 (GRCm38) |
H56R |
possibly damaging |
Het |
| Olfr1287 |
A |
T |
2: 111,449,589 (GRCm38) |
T150S |
probably benign |
Het |
| Olfr790 |
A |
T |
10: 129,501,309 (GRCm38) |
M142L |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,522,073 (GRCm38) |
N909K |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,572,963 (GRCm38) |
V304A |
probably benign |
Het |
| Racgap1 |
G |
A |
15: 99,628,762 (GRCm38) |
R307W |
probably damaging |
Het |
| Rap1gds1 |
C |
A |
3: 138,955,420 (GRCm38) |
E399* |
probably null |
Het |
| Rwdd4a |
G |
A |
8: 47,542,802 (GRCm38) |
|
probably null |
Het |
| Scp2 |
T |
C |
4: 108,071,291 (GRCm38) |
T401A |
probably benign |
Het |
| Sdha |
A |
G |
13: 74,327,333 (GRCm38) |
F526S |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,464,045 (GRCm38) |
L264Q |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,996,294 (GRCm38) |
T1466A |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,966,018 (GRCm38) |
C71Y |
probably damaging |
Het |
| Ugt2b34 |
G |
A |
5: 86,904,387 (GRCm38) |
S250L |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,413,181 (GRCm38) |
D117G |
probably benign |
Het |
| Wdr73 |
A |
T |
7: 80,892,425 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Hspa12a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01419:Hspa12a
|
APN |
19 |
58,828,249 (GRCm38) |
splice site |
probably null |
|
|
IGL01516:Hspa12a
|
APN |
19 |
58,827,676 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01766:Hspa12a
|
APN |
19 |
58,799,467 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01986:Hspa12a
|
APN |
19 |
58,799,402 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL02138:Hspa12a
|
APN |
19 |
58,828,298 (GRCm38) |
missense |
probably benign |
0.45 |
|
IGL02170:Hspa12a
|
APN |
19 |
58,804,681 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02576:Hspa12a
|
APN |
19 |
58,799,410 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
IGL02623:Hspa12a
|
APN |
19 |
58,809,551 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02890:Hspa12a
|
APN |
19 |
58,820,999 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03209:Hspa12a
|
APN |
19 |
58,822,061 (GRCm38) |
splice site |
probably null |
|
|
IGL03343:Hspa12a
|
APN |
19 |
58,799,396 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0040:Hspa12a
|
UTSW |
19 |
58,799,624 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0090:Hspa12a
|
UTSW |
19 |
58,799,509 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2139:Hspa12a
|
UTSW |
19 |
58,799,482 (GRCm38) |
missense |
probably benign |
|
|
R4031:Hspa12a
|
UTSW |
19 |
58,800,857 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4686:Hspa12a
|
UTSW |
19 |
58,799,749 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4914:Hspa12a
|
UTSW |
19 |
58,799,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5580:Hspa12a
|
UTSW |
19 |
58,799,660 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5615:Hspa12a
|
UTSW |
19 |
58,804,650 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5781:Hspa12a
|
UTSW |
19 |
58,822,086 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6777:Hspa12a
|
UTSW |
19 |
58,822,087 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6954:Hspa12a
|
UTSW |
19 |
58,799,692 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7038:Hspa12a
|
UTSW |
19 |
58,804,700 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7151:Hspa12a
|
UTSW |
19 |
58,822,162 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7249:Hspa12a
|
UTSW |
19 |
58,805,433 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7677:Hspa12a
|
UTSW |
19 |
58,860,885 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8110:Hspa12a
|
UTSW |
19 |
58,821,013 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8830:Hspa12a
|
UTSW |
19 |
58,805,463 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R8955:Hspa12a
|
UTSW |
19 |
58,799,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8987:Hspa12a
|
UTSW |
19 |
58,799,471 (GRCm38) |
nonsense |
probably null |
|
|
R9056:Hspa12a
|
UTSW |
19 |
58,825,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9147:Hspa12a
|
UTSW |
19 |
58,805,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9148:Hspa12a
|
UTSW |
19 |
58,805,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9157:Hspa12a
|
UTSW |
19 |
58,800,860 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9316:Hspa12a
|
UTSW |
19 |
58,804,647 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9329:Hspa12a
|
UTSW |
19 |
58,800,866 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9370:Hspa12a
|
UTSW |
19 |
58,825,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9486:Hspa12a
|
UTSW |
19 |
58,809,459 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAAGTCGATCCCCACTTTG -3'
(R):5'- TAGGTGTGCTGAACCGCTAC -3'
Sequencing Primer
(F):5'- CCACTTTGACACTCTTTGAGGTGG -3'
(R):5'- CTCCCGAGAAGCTATTGGTCAAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation