Incidental Mutation 'IGL01643:Hspa12b'
| ID |
93589 |
| 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 # |
IGL01643
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130969332-130987905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130984617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 329
(T329A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028800]
[ENSMUST00000099349]
[ENSMUST00000103188]
[ENSMUST00000127862]
[ENSMUST00000133602]
[ENSMUST00000184121]
[ENSMUST00000184535]
|
| AlphaFold |
Q9CZJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028800
|
| SMART Domains |
Protein: ENSMUSP00000028800
Gene: ENSMUSG00000027327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4517
|
30 |
177 |
1.6e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099349
AA Change: T329A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096950
Gene: ENSMUSG00000074793
AA Change: T329A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
SCOP:d1bupa1
|
62 |
248 |
3e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103188
|
| SMART Domains |
Protein: ENSMUSP00000099477
Gene: ENSMUSG00000027327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4517
|
27 |
174 |
1.1e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127862
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133602
|
| SMART Domains |
Protein: ENSMUSP00000115000
Gene: ENSMUSG00000027327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4517
|
27 |
140 |
3.5e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136838
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184535
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,082,414 (GRCm39) |
R304Q |
probably damaging |
Het |
| Afap1l1 |
T |
A |
18: 61,884,897 (GRCm39) |
E196V |
probably damaging |
Het |
| Bmp5 |
A |
T |
9: 75,746,895 (GRCm39) |
D251V |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,288,839 (GRCm39) |
H334R |
probably benign |
Het |
| Crnkl1 |
A |
G |
2: 145,773,268 (GRCm39) |
M126T |
probably damaging |
Het |
| Ddrgk1 |
T |
C |
2: 130,500,214 (GRCm39) |
|
probably benign |
Het |
| Dpy19l4 |
T |
C |
4: 11,290,184 (GRCm39) |
|
probably benign |
Het |
| Eral1 |
A |
G |
11: 77,965,104 (GRCm39) |
|
probably null |
Het |
| Ereg |
T |
A |
5: 91,234,637 (GRCm39) |
S17T |
probably benign |
Het |
| Fgfr1 |
T |
A |
8: 26,056,751 (GRCm39) |
M280K |
probably benign |
Het |
| Gpr65 |
A |
G |
12: 98,242,013 (GRCm39) |
E222G |
probably damaging |
Het |
| Grid1 |
G |
T |
14: 35,045,392 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
A |
G |
8: 82,798,400 (GRCm39) |
I863V |
probably damaging |
Het |
| Kash5 |
A |
T |
7: 44,849,710 (GRCm39) |
M71K |
probably damaging |
Het |
| Krt8 |
G |
T |
15: 101,905,508 (GRCm39) |
S447Y |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 26,946,368 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
A |
C |
10: 38,932,846 (GRCm39) |
N574T |
probably benign |
Het |
| Lig3 |
T |
C |
11: 82,689,118 (GRCm39) |
S791P |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,874,252 (GRCm39) |
|
probably benign |
Het |
| Or4c12b |
A |
T |
2: 89,647,017 (GRCm39) |
I116F |
probably damaging |
Het |
| Pdk1 |
A |
G |
2: 71,728,049 (GRCm39) |
D370G |
probably damaging |
Het |
| Popdc3 |
T |
A |
10: 45,190,976 (GRCm39) |
I29N |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,678,793 (GRCm39) |
I914F |
probably benign |
Het |
| Rnf207 |
C |
T |
4: 152,402,718 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,707,563 (GRCm39) |
I2825F |
possibly damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,146,849 (GRCm39) |
|
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,336,972 (GRCm39) |
V791A |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,599,877 (GRCm39) |
L127P |
probably damaging |
Het |
| Whrn |
T |
C |
4: 63,334,672 (GRCm39) |
T368A |
possibly damaging |
Het |
|
| Other mutations in Hspa12b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Hspa12b
|
APN |
2 |
130,976,040 (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 |
2013-12-09 |
Incidental Mutation