Incidental Mutation 'IGL01986:Hspa12a'
| ID |
181912 |
| 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 # |
IGL01986
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
58784182-58932086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58787834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 663
(S663P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028299]
[ENSMUST00000066285]
|
| AlphaFold |
Q8K0U4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066285
AA Change: S663P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000066860
Gene: ENSMUSG00000025092
AA Change: S663P
| 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 |
|---|
| 6820408C15Rik |
A |
T |
2: 152,282,956 (GRCm39) |
I245F |
possibly damaging |
Het |
| Abca3 |
G |
A |
17: 24,627,088 (GRCm39) |
G1263D |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,779,265 (GRCm39) |
S1442T |
probably damaging |
Het |
| Arl15 |
C |
A |
13: 114,058,902 (GRCm39) |
S56R |
possibly damaging |
Het |
| Ccdc38 |
A |
T |
10: 93,415,705 (GRCm39) |
N415Y |
probably damaging |
Het |
| Ccny |
G |
A |
18: 9,377,817 (GRCm39) |
R81C |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,006,457 (GRCm39) |
S939R |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,522,591 (GRCm39) |
T2693A |
possibly damaging |
Het |
| Fancm |
C |
T |
12: 65,173,429 (GRCm39) |
Q1914* |
probably null |
Het |
| Fcsk |
T |
C |
8: 111,609,889 (GRCm39) |
T1042A |
probably benign |
Het |
| Gm18856 |
G |
A |
13: 14,139,413 (GRCm39) |
|
probably benign |
Het |
| Gramd1a |
A |
T |
7: 30,833,434 (GRCm39) |
L610Q |
possibly damaging |
Het |
| Hsd17b4 |
C |
A |
18: 50,293,193 (GRCm39) |
|
probably benign |
Het |
| Insr |
C |
T |
8: 3,208,817 (GRCm39) |
V1215I |
probably damaging |
Het |
| Kdr |
A |
G |
5: 76,113,519 (GRCm39) |
V783A |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,640,016 (GRCm39) |
D75G |
probably damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,365,533 (GRCm39) |
S53P |
probably damaging |
Het |
| Lrrc41 |
T |
A |
4: 115,946,519 (GRCm39) |
F411L |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,950,212 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
A |
G |
5: 129,673,692 (GRCm39) |
H257R |
probably damaging |
Het |
| Nkiras1 |
G |
A |
14: 18,280,071 (GRCm38) |
R154Q |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,248,880 (GRCm39) |
I163V |
probably benign |
Het |
| Or2b4 |
A |
G |
17: 38,116,957 (GRCm39) |
K307R |
probably damaging |
Het |
| Or4p21 |
C |
T |
2: 88,276,839 (GRCm39) |
V148I |
probably benign |
Het |
| Or8s16 |
T |
C |
15: 98,210,660 (GRCm39) |
Y257C |
probably damaging |
Het |
| Pcsk6 |
G |
A |
7: 65,577,625 (GRCm39) |
R60H |
probably damaging |
Het |
| Polk |
T |
C |
13: 96,620,331 (GRCm39) |
D623G |
probably benign |
Het |
| Rlf |
A |
T |
4: 121,005,303 (GRCm39) |
C1226S |
probably damaging |
Het |
| Rpa2 |
C |
T |
4: 132,499,191 (GRCm39) |
P87S |
probably benign |
Het |
| Rpa2 |
C |
T |
4: 132,499,192 (GRCm39) |
P87L |
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,682,506 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
T |
3: 72,852,545 (GRCm39) |
M529K |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,460,237 (GRCm39) |
M3375T |
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,934,259 (GRCm39) |
L83Q |
probably damaging |
Het |
| Tec |
A |
T |
5: 72,939,348 (GRCm39) |
Y222* |
probably null |
Het |
| Tfap2d |
C |
T |
1: 19,189,383 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
G |
A |
9: 121,302,033 (GRCm39) |
A930T |
probably benign |
Het |
| Ugt2b34 |
G |
T |
5: 87,049,111 (GRCm39) |
H305N |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,473 (GRCm39) |
N295S |
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 |
|
IGL01766:Hspa12a
|
APN |
19 |
58,787,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-05-07 |
Incidental Mutation