Incidental Mutation 'R4234:Hspa12b'
ID |
320999 |
Institutional Source |
Beutler Lab
|
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 # |
R4234 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
130969332-130987905 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 130980932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 162
(V162A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096950
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099349]
[ENSMUST00000100763]
[ENSMUST00000110225]
[ENSMUST00000127862]
|
AlphaFold |
Q9CZJ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099349
AA Change: V162A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000096950 Gene: ENSMUSG00000074793 AA Change: V162A
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: ENSMUST00000100763
|
SMART Domains |
Protein: ENSMUSP00000098326 Gene: ENSMUSG00000074793
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 |
probably benign
Transcript: ENSMUST00000127862
|
Meta Mutation Damage Score |
0.0712 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Ahnak |
A |
T |
19: 8,978,150 (GRCm39) |
K90* |
probably null |
Het |
Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
Ap3s1 |
A |
T |
18: 46,912,267 (GRCm39) |
T96S |
probably benign |
Het |
Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
Aspg |
T |
A |
12: 112,089,750 (GRCm39) |
Y429* |
probably null |
Het |
Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
BC034090 |
C |
T |
1: 155,117,326 (GRCm39) |
G264D |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
Cerk |
T |
C |
15: 86,026,989 (GRCm39) |
K174E |
probably benign |
Het |
Col19a1 |
T |
C |
1: 24,354,476 (GRCm39) |
|
probably null |
Het |
Cyp2c23 |
G |
T |
19: 44,017,604 (GRCm39) |
T8K |
unknown |
Het |
Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
Dok4 |
T |
C |
8: 95,592,292 (GRCm39) |
E232G |
probably damaging |
Het |
Dpf1 |
T |
C |
7: 29,015,057 (GRCm39) |
S304P |
probably damaging |
Het |
Dpyd |
T |
A |
3: 119,225,233 (GRCm39) |
I1002N |
probably damaging |
Het |
Fam107b |
T |
C |
2: 3,771,777 (GRCm39) |
S3P |
possibly damaging |
Het |
Gm1527 |
G |
A |
3: 28,968,515 (GRCm39) |
G189D |
probably damaging |
Het |
Lix1l |
T |
A |
3: 96,530,973 (GRCm39) |
|
probably null |
Het |
Mdc1 |
T |
C |
17: 36,159,716 (GRCm39) |
C658R |
probably benign |
Het |
Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
Myh15 |
G |
T |
16: 48,983,405 (GRCm39) |
V1507L |
probably benign |
Het |
Nfe2l1 |
T |
C |
11: 96,710,735 (GRCm39) |
D210G |
probably damaging |
Het |
Notch3 |
T |
A |
17: 32,360,315 (GRCm39) |
I1539F |
probably damaging |
Het |
Pcdhac1 |
A |
C |
18: 37,224,011 (GRCm39) |
S275R |
probably damaging |
Het |
Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
Rbbp5 |
A |
G |
1: 132,412,496 (GRCm39) |
T20A |
probably benign |
Het |
Rere |
T |
C |
4: 150,701,862 (GRCm39) |
V1414A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Ryr3 |
G |
T |
2: 112,740,752 (GRCm39) |
N538K |
probably damaging |
Het |
Serpina3j |
C |
A |
12: 104,281,445 (GRCm39) |
T206K |
probably benign |
Het |
Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
Slc27a5 |
C |
A |
7: 12,722,370 (GRCm39) |
C416F |
probably benign |
Het |
Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
Tex30 |
A |
T |
1: 44,130,672 (GRCm39) |
I32K |
possibly damaging |
Het |
Trpc2 |
T |
C |
7: 101,737,342 (GRCm39) |
I752T |
possibly damaging |
Het |
Wnk2 |
A |
G |
13: 49,214,604 (GRCm39) |
V1314A |
probably benign |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGGCAAGACTCCCATTGTG -3'
(R):5'- GCCCAAGTCCAAGTTCGAAG -3'
Sequencing Primer
(F):5'- TCAGGGGAGCAAGAGGC -3'
(R):5'- ACTGGAGATGGGCTGTGACC -3'
|
Posted On |
2015-06-12 |