Incidental Mutation 'IGL01766:Hspa12a'
| ID |
153656 |
| 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 # |
IGL01766
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
58784182-58932086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58787899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 641
(E641G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066285]
|
| AlphaFold |
Q8K0U4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066285
AA Change: E641G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066860
Gene: ENSMUSG00000025092
AA Change: E641G
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,557 (GRCm39) |
D310G |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,977,482 (GRCm39) |
T7A |
unknown |
Het |
| Arhgap21 |
T |
A |
2: 20,854,448 (GRCm39) |
D1648V |
possibly damaging |
Het |
| Cd274 |
T |
C |
19: 29,362,810 (GRCm39) |
*291Q |
probably null |
Het |
| Ceacam1 |
G |
A |
7: 25,171,420 (GRCm39) |
S348L |
probably damaging |
Het |
| Dcaf13 |
T |
C |
15: 38,982,145 (GRCm39) |
V37A |
probably benign |
Het |
| Degs1 |
A |
T |
1: 182,106,660 (GRCm39) |
F200I |
probably damaging |
Het |
| Dock4 |
G |
T |
12: 40,496,378 (GRCm39) |
E8* |
probably null |
Het |
| Dsc2 |
G |
A |
18: 20,179,399 (GRCm39) |
P223L |
possibly damaging |
Het |
| Exo1 |
A |
G |
1: 175,719,587 (GRCm39) |
T171A |
possibly damaging |
Het |
| Gen1 |
C |
T |
12: 11,306,895 (GRCm39) |
D92N |
probably damaging |
Het |
| Gm572 |
A |
T |
4: 148,739,352 (GRCm39) |
H60L |
possibly damaging |
Het |
| Gucy2c |
T |
C |
6: 136,692,971 (GRCm39) |
T719A |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 51,936,447 (GRCm39) |
S1575G |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Luzp1 |
T |
C |
4: 136,270,084 (GRCm39) |
I769T |
possibly damaging |
Het |
| Map2k5 |
C |
T |
9: 63,284,509 (GRCm39) |
A11T |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,743,161 (GRCm39) |
E74G |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,384,283 (GRCm39) |
V666A |
probably damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,901 (GRCm39) |
N84I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or5ak4 |
A |
G |
2: 85,161,945 (GRCm39) |
L99S |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,649 (GRCm39) |
F166S |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,823,400 (GRCm39) |
T123A |
probably damaging |
Het |
| Polrmt |
T |
C |
10: 79,572,402 (GRCm39) |
E1077G |
possibly damaging |
Het |
| Ptprh |
A |
G |
7: 4,583,915 (GRCm39) |
W226R |
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,801,553 (GRCm39) |
H1059R |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,774,365 (GRCm39) |
T306A |
probably benign |
Het |
| Sox14 |
T |
A |
9: 99,757,169 (GRCm39) |
H190L |
probably damaging |
Het |
| Spag8 |
G |
T |
4: 43,653,209 (GRCm39) |
|
probably benign |
Het |
| Tomm40 |
T |
C |
7: 19,437,007 (GRCm39) |
H20R |
possibly damaging |
Het |
| Znhit3 |
G |
T |
11: 84,806,959 (GRCm39) |
|
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 |
|
|
IGL01516:Hspa12a
|
APN |
19 |
58,816,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2014-02-04 |
Incidental Mutation