Incidental Mutation 'IGL02890:Hspa12a'
ID |
363162 |
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: 0.412)
|
Stock # |
IGL02890
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
58784182-58932086 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 58809431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066860
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066285]
|
AlphaFold |
Q8K0U4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000066285
|
SMART Domains |
Protein: ENSMUSP00000066860 Gene: ENSMUSG00000025092
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
A |
T |
8: 41,278,190 (GRCm39) |
I194L |
probably benign |
Het |
Akirin1 |
A |
G |
4: 123,631,855 (GRCm39) |
V171A |
probably damaging |
Het |
Camk2b |
A |
T |
11: 5,951,340 (GRCm39) |
D91E |
possibly damaging |
Het |
Ccser1 |
A |
G |
6: 62,356,815 (GRCm39) |
D751G |
probably damaging |
Het |
D6Wsu163e |
G |
A |
6: 126,951,450 (GRCm39) |
G500D |
probably damaging |
Het |
Dchs1 |
G |
T |
7: 105,405,698 (GRCm39) |
D2395E |
probably damaging |
Het |
Entrep3 |
A |
T |
3: 89,094,089 (GRCm39) |
T223S |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,826,636 (GRCm39) |
T4439A |
probably benign |
Het |
Fn1 |
A |
G |
1: 71,637,531 (GRCm39) |
|
probably null |
Het |
Galnt14 |
A |
C |
17: 73,816,519 (GRCm39) |
|
probably null |
Het |
Gemin4 |
A |
C |
11: 76,102,090 (GRCm39) |
S890R |
probably damaging |
Het |
Glrp1 |
T |
A |
1: 88,437,510 (GRCm39) |
|
probably null |
Het |
Grik1 |
A |
G |
16: 87,693,690 (GRCm39) |
|
probably benign |
Het |
H2bc14 |
G |
T |
13: 21,906,356 (GRCm39) |
R30L |
probably benign |
Het |
Hykk |
C |
T |
9: 54,827,995 (GRCm39) |
P78L |
probably benign |
Het |
Kctd13 |
G |
A |
7: 126,529,903 (GRCm39) |
G115R |
probably benign |
Het |
Kctd16 |
A |
G |
18: 40,390,080 (GRCm39) |
|
probably benign |
Het |
Ltn1 |
C |
T |
16: 87,206,185 (GRCm39) |
|
probably null |
Het |
Mat2a |
A |
G |
6: 72,413,229 (GRCm39) |
L167P |
probably damaging |
Het |
Myo6 |
A |
G |
9: 80,173,456 (GRCm39) |
E532G |
probably damaging |
Het |
Nrbp2 |
G |
T |
15: 75,961,306 (GRCm39) |
L272M |
probably damaging |
Het |
Nrdc |
A |
G |
4: 108,911,116 (GRCm39) |
D790G |
possibly damaging |
Het |
Or4e5 |
T |
A |
14: 52,728,368 (GRCm39) |
T18S |
probably benign |
Het |
Or5k16 |
T |
C |
16: 58,736,737 (GRCm39) |
D89G |
probably benign |
Het |
Or8g26 |
T |
C |
9: 39,095,564 (GRCm39) |
L27P |
probably damaging |
Het |
Pcdh10 |
A |
T |
3: 45,347,052 (GRCm39) |
H949L |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,269,956 (GRCm39) |
Y547C |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,431,235 (GRCm39) |
V2392D |
probably damaging |
Het |
Ppp1r3g |
A |
T |
13: 36,153,314 (GRCm39) |
T245S |
probably damaging |
Het |
Prkaa1 |
A |
G |
15: 5,206,567 (GRCm39) |
N439S |
possibly damaging |
Het |
Radil |
A |
G |
5: 142,529,463 (GRCm39) |
Y78H |
probably damaging |
Het |
Ric8b |
A |
T |
10: 84,837,731 (GRCm39) |
M513L |
possibly damaging |
Het |
Slc4a10 |
T |
C |
2: 62,117,260 (GRCm39) |
S740P |
probably damaging |
Het |
Slc5a12 |
T |
C |
2: 110,454,478 (GRCm39) |
|
probably benign |
Het |
Smg1 |
G |
A |
7: 117,784,724 (GRCm39) |
|
probably benign |
Het |
Spef2 |
C |
T |
15: 9,748,853 (GRCm39) |
M1I |
probably null |
Het |
Tmc5 |
A |
T |
7: 118,244,653 (GRCm39) |
|
probably benign |
Het |
Tpp2 |
C |
T |
1: 44,038,850 (GRCm39) |
A1132V |
probably damaging |
Het |
Ttll4 |
A |
T |
1: 74,726,498 (GRCm39) |
K699* |
probably null |
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 |
|
IGL01516:Hspa12a
|
APN |
19 |
58,816,108 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
2015-12-18 |