Incidental Mutation 'IGL00235:Hspa12b'
| ID |
2488 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hspa12b
|
| Ensembl Gene |
ENSMUSG00000074793 |
| Gene Name |
heat shock protein 12B |
| Synonyms |
2700081N06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL00235
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130969332-130987905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130976040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 14
(I14N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099349]
[ENSMUST00000100763]
[ENSMUST00000110225]
[ENSMUST00000127862]
|
| AlphaFold |
Q9CZJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099349
AA Change: I14N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096950
Gene: ENSMUSG00000074793
AA Change: I14N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
SCOP:d1bupa1
|
62 |
248 |
3e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100763
AA Change: I14N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098326
Gene: ENSMUSG00000074793
AA Change: I14N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
SCOP:d1bupa1
|
62 |
87 |
8e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110225
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000127862
AA Change: I14N
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
G |
A |
16: 35,073,583 (GRCm39) |
E454K |
possibly damaging |
Het |
| Agl |
T |
C |
3: 116,565,132 (GRCm39) |
H1039R |
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,842,694 (GRCm39) |
F438L |
probably benign |
Het |
| Casp1 |
A |
T |
9: 5,299,872 (GRCm39) |
|
probably benign |
Het |
| Cnih2 |
G |
T |
19: 5,148,301 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
G |
A |
7: 105,407,950 (GRCm39) |
R1961C |
probably damaging |
Het |
| Defb21 |
G |
A |
2: 152,416,712 (GRCm39) |
V63I |
probably benign |
Het |
| Elovl6 |
T |
A |
3: 129,422,025 (GRCm39) |
N105K |
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,376,493 (GRCm39) |
E402V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,036,398 (GRCm39) |
I3350N |
probably damaging |
Het |
| Gmpr2 |
C |
A |
14: 55,913,171 (GRCm39) |
F149L |
probably damaging |
Het |
| Gucy1b2 |
C |
A |
14: 62,643,694 (GRCm39) |
V636F |
probably damaging |
Het |
| Hapln1 |
A |
C |
13: 89,756,261 (GRCm39) |
Y355S |
probably benign |
Het |
| Hoxb13 |
G |
T |
11: 96,085,468 (GRCm39) |
C67F |
possibly damaging |
Het |
| Ighe |
C |
A |
12: 113,235,135 (GRCm39) |
V342L |
unknown |
Het |
| Ighv1-49 |
A |
T |
12: 115,019,076 (GRCm39) |
S21T |
possibly damaging |
Het |
| Klhl17 |
A |
G |
4: 156,318,319 (GRCm39) |
I101T |
possibly damaging |
Het |
| Lrrd1 |
T |
G |
5: 3,900,573 (GRCm39) |
L293V |
possibly damaging |
Het |
| Lyrm4 |
T |
A |
13: 36,276,865 (GRCm39) |
K44M |
probably damaging |
Het |
| Med15 |
G |
T |
16: 17,498,590 (GRCm39) |
P101T |
probably damaging |
Het |
| Mgat4c |
A |
T |
10: 102,224,581 (GRCm39) |
H265L |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,247,465 (GRCm39) |
I250N |
possibly damaging |
Het |
| Mxra8 |
C |
A |
4: 155,927,020 (GRCm39) |
T318N |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,757,203 (GRCm39) |
V147I |
probably benign |
Het |
| Npepl1 |
G |
T |
2: 173,962,341 (GRCm39) |
V336L |
probably damaging |
Het |
| Or1e23 |
G |
A |
11: 73,407,236 (GRCm39) |
S263L |
possibly damaging |
Het |
| Pank2 |
T |
C |
2: 131,116,089 (GRCm39) |
I169T |
possibly damaging |
Het |
| Pgap6 |
T |
C |
17: 26,336,493 (GRCm39) |
S204P |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,419,415 (GRCm39) |
H2960L |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,329,852 (GRCm39) |
R135G |
probably benign |
Het |
| Prdm8 |
T |
G |
5: 98,331,202 (GRCm39) |
V18G |
probably damaging |
Het |
| Rhox7b |
G |
T |
X: 36,978,539 (GRCm39) |
P231T |
probably damaging |
Het |
| Rnf121 |
A |
T |
7: 101,714,322 (GRCm39) |
|
probably benign |
Het |
| Skap1 |
T |
C |
11: 96,380,736 (GRCm39) |
F45S |
probably damaging |
Het |
| Slc4a5 |
T |
A |
6: 83,262,881 (GRCm39) |
L791Q |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,080,637 (GRCm39) |
D931G |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,399,807 (GRCm39) |
Y382C |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,051,346 (GRCm39) |
F307L |
probably benign |
Het |
| Zfhx2 |
C |
A |
14: 55,300,714 (GRCm39) |
A2346S |
probably benign |
Het |
|
| Other mutations in Hspa12b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01643:Hspa12b
|
APN |
2 |
130,984,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02145:Hspa12b
|
APN |
2 |
130,985,655 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02441:Hspa12b
|
APN |
2 |
130,980,515 (GRCm39) |
missense |
probably null |
1.00 |
|
R0356:Hspa12b
|
UTSW |
2 |
130,986,719 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1458:Hspa12b
|
UTSW |
2 |
130,987,112 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1618:Hspa12b
|
UTSW |
2 |
130,982,849 (GRCm39) |
missense |
probably benign |
|
|
R1734:Hspa12b
|
UTSW |
2 |
130,980,456 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2149:Hspa12b
|
UTSW |
2 |
130,984,977 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4091:Hspa12b
|
UTSW |
2 |
130,975,408 (GRCm39) |
splice site |
probably null |
|
|
R4234:Hspa12b
|
UTSW |
2 |
130,980,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4235:Hspa12b
|
UTSW |
2 |
130,980,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4243:Hspa12b
|
UTSW |
2 |
130,983,778 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5133:Hspa12b
|
UTSW |
2 |
130,981,428 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5134:Hspa12b
|
UTSW |
2 |
130,981,428 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5228:Hspa12b
|
UTSW |
2 |
130,984,884 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6358:Hspa12b
|
UTSW |
2 |
130,978,986 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7555:Hspa12b
|
UTSW |
2 |
130,980,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8035:Hspa12b
|
UTSW |
2 |
130,982,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8117:Hspa12b
|
UTSW |
2 |
130,980,389 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8721:Hspa12b
|
UTSW |
2 |
130,982,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8807:Hspa12b
|
UTSW |
2 |
130,987,103 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9233:Hspa12b
|
UTSW |
2 |
130,976,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Hspa12b
|
UTSW |
2 |
130,986,481 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2011-12-09 |
Incidental Mutation