Incidental Mutation 'IGL01516:Hspa12a'
| ID |
90404 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hspa12a
|
| Ensembl Gene |
ENSMUSG00000025092 |
| Gene Name |
heat shock protein 12A |
| Synonyms |
Hspa12a, 1700063D12Rik, Gm19925 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.392)
|
| Stock # |
IGL01516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
58784182-58932086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58816108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 45
(D45V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066285]
|
| AlphaFold |
Q8K0U4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066285
AA Change: D45V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000066860
Gene: ENSMUSG00000025092
AA Change: D45V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1bupa1
|
58 |
244 |
4e-14 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,838,548 (GRCm39) |
S95P |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,109,043 (GRCm39) |
H709L |
possibly damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,060,172 (GRCm39) |
Y455C |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,453,563 (GRCm39) |
T341I |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,611,830 (GRCm39) |
Y77* |
probably null |
Het |
| Cps1 |
C |
T |
1: 67,269,443 (GRCm39) |
R1481C |
probably damaging |
Het |
| Cspg5 |
A |
G |
9: 110,075,761 (GRCm39) |
K166E |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,616,584 (GRCm39) |
|
probably null |
Het |
| Epha5 |
C |
A |
5: 84,534,135 (GRCm39) |
L65F |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,367,404 (GRCm39) |
K438* |
probably null |
Het |
| Gldc |
A |
T |
19: 30,076,432 (GRCm39) |
C1005S |
probably damaging |
Het |
| Hs3st5 |
C |
T |
10: 36,709,047 (GRCm39) |
T194I |
probably damaging |
Het |
| Il1rn |
C |
T |
2: 24,239,551 (GRCm39) |
T130I |
probably damaging |
Het |
| Klk1b22 |
G |
T |
7: 43,765,732 (GRCm39) |
C196F |
probably damaging |
Het |
| Lamp1 |
C |
T |
8: 13,223,863 (GRCm39) |
H332Y |
probably damaging |
Het |
| Limd2 |
T |
C |
11: 106,049,870 (GRCm39) |
T40A |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Mbd4 |
T |
C |
6: 115,826,491 (GRCm39) |
T167A |
probably damaging |
Het |
| Mitf |
T |
A |
6: 97,987,351 (GRCm39) |
|
probably null |
Het |
| Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,132 (GRCm39) |
L201Q |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,760,266 (GRCm39) |
I261F |
probably damaging |
Het |
| Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,165 (GRCm39) |
I91F |
probably benign |
Het |
| Paics |
T |
A |
5: 77,104,578 (GRCm39) |
L68I |
probably damaging |
Het |
| Pramel15 |
A |
G |
4: 144,104,337 (GRCm39) |
V56A |
probably damaging |
Het |
| Prkca |
C |
T |
11: 107,852,428 (GRCm39) |
V102M |
probably null |
Het |
| Ptpn21 |
G |
A |
12: 98,681,448 (GRCm39) |
T62I |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,266,728 (GRCm39) |
E212V |
probably damaging |
Het |
| Rufy2 |
A |
C |
10: 62,847,212 (GRCm39) |
K539Q |
possibly damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
| Smarcd1 |
T |
C |
15: 99,610,094 (GRCm39) |
F442L |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,714,576 (GRCm39) |
V125A |
probably damaging |
Het |
| Tmem154 |
C |
T |
3: 84,591,897 (GRCm39) |
H120Y |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,786,823 (GRCm39) |
K1321E |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,383,459 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
A |
G |
17: 34,668,234 (GRCm39) |
D168G |
possibly damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,857 (GRCm39) |
F137L |
probably benign |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,632 (GRCm39) |
T262S |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,370 (GRCm39) |
V793A |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,038 (GRCm39) |
N300S |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,426,127 (GRCm39) |
|
probably null |
Het |
| Zfp784 |
G |
A |
7: 5,039,036 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
G |
T |
12: 79,334,625 (GRCm39) |
P131Q |
probably benign |
Het |
|
| Other mutations in Hspa12a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01419:Hspa12a
|
APN |
19 |
58,816,681 (GRCm39) |
splice site |
probably null |
|
|
IGL01766:Hspa12a
|
APN |
19 |
58,787,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01986:Hspa12a
|
APN |
19 |
58,787,834 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02138:Hspa12a
|
APN |
19 |
58,816,730 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02170:Hspa12a
|
APN |
19 |
58,793,113 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02576:Hspa12a
|
APN |
19 |
58,787,842 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02623:Hspa12a
|
APN |
19 |
58,797,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02890:Hspa12a
|
APN |
19 |
58,809,431 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03209:Hspa12a
|
APN |
19 |
58,810,493 (GRCm39) |
splice site |
probably null |
|
|
IGL03343:Hspa12a
|
APN |
19 |
58,787,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0040:Hspa12a
|
UTSW |
19 |
58,788,056 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0090:Hspa12a
|
UTSW |
19 |
58,787,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2139:Hspa12a
|
UTSW |
19 |
58,787,914 (GRCm39) |
missense |
probably benign |
|
|
R4031:Hspa12a
|
UTSW |
19 |
58,789,289 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4686:Hspa12a
|
UTSW |
19 |
58,788,181 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4914:Hspa12a
|
UTSW |
19 |
58,787,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5046:Hspa12a
|
UTSW |
19 |
58,787,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Hspa12a
|
UTSW |
19 |
58,788,092 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5615:Hspa12a
|
UTSW |
19 |
58,793,082 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5781:Hspa12a
|
UTSW |
19 |
58,810,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6777:Hspa12a
|
UTSW |
19 |
58,810,519 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6954:Hspa12a
|
UTSW |
19 |
58,788,124 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7038:Hspa12a
|
UTSW |
19 |
58,793,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Hspa12a
|
UTSW |
19 |
58,810,594 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7249:Hspa12a
|
UTSW |
19 |
58,793,865 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7677:Hspa12a
|
UTSW |
19 |
58,849,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8110:Hspa12a
|
UTSW |
19 |
58,809,445 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8830:Hspa12a
|
UTSW |
19 |
58,793,895 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8955:Hspa12a
|
UTSW |
19 |
58,788,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Hspa12a
|
UTSW |
19 |
58,787,903 (GRCm39) |
nonsense |
probably null |
|
|
R9056:Hspa12a
|
UTSW |
19 |
58,813,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Hspa12a
|
UTSW |
19 |
58,793,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Hspa12a
|
UTSW |
19 |
58,793,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Hspa12a
|
UTSW |
19 |
58,789,292 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9316:Hspa12a
|
UTSW |
19 |
58,793,079 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9329:Hspa12a
|
UTSW |
19 |
58,789,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9370:Hspa12a
|
UTSW |
19 |
58,813,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Hspa12a
|
UTSW |
19 |
58,797,891 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2013-12-09 |
Incidental Mutation