Incidental Mutation 'R0356:Hspa12b'
ID |
65390 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hspa12b
|
Ensembl Gene |
ENSMUSG00000074793 |
Gene Name |
heat shock protein 12B |
Synonyms |
2700081N06Rik |
MMRRC Submission |
038562-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R0356 (G1)
|
Quality Score |
118 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
130969332-130987905 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 130986719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 547
(V547L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096950
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028800]
[ENSMUST00000099349]
[ENSMUST00000103188]
[ENSMUST00000127862]
[ENSMUST00000133602]
[ENSMUST00000184535]
[ENSMUST00000184121]
|
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 |
possibly damaging
Transcript: ENSMUST00000099349
AA Change: V547L
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000096950 Gene: ENSMUSG00000074793 AA Change: V547L
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 |
noncoding transcript
Transcript: ENSMUST00000152961
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184535
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184121
|
Meta Mutation Damage Score |
0.1250 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.6%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
100% (47/47) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
T |
C |
2: 32,464,418 (GRCm39) |
|
probably benign |
Het |
Adgrg6 |
C |
T |
10: 14,302,642 (GRCm39) |
V924M |
possibly damaging |
Het |
Anxa9 |
A |
G |
3: 95,215,387 (GRCm39) |
|
probably benign |
Het |
Ap3d1 |
G |
T |
10: 80,563,812 (GRCm39) |
S122R |
probably damaging |
Het |
Arhgap5 |
T |
C |
12: 52,563,091 (GRCm39) |
S21P |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,167,573 (GRCm39) |
|
probably benign |
Het |
AU040320 |
A |
T |
4: 126,731,155 (GRCm39) |
D618V |
probably damaging |
Het |
Cbfa2t2 |
T |
A |
2: 154,373,269 (GRCm39) |
D475E |
probably benign |
Het |
Ccdc202 |
T |
A |
14: 96,119,801 (GRCm39) |
V186E |
possibly damaging |
Het |
Ccdc62 |
G |
A |
5: 124,092,811 (GRCm39) |
V599I |
probably benign |
Het |
Cenpj |
T |
C |
14: 56,786,953 (GRCm39) |
E917G |
probably damaging |
Het |
Cog5 |
T |
C |
12: 31,887,180 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
T |
A |
1: 24,224,328 (GRCm39) |
L170* |
probably null |
Het |
Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,021,388 (GRCm39) |
|
probably null |
Het |
Drg2 |
T |
A |
11: 60,352,407 (GRCm39) |
V203E |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,865,930 (GRCm39) |
Y1586C |
probably damaging |
Het |
Gp6 |
A |
T |
7: 4,373,141 (GRCm39) |
|
probably benign |
Het |
Hhip |
T |
C |
8: 80,724,121 (GRCm39) |
I374V |
probably benign |
Het |
Iars1 |
G |
A |
13: 49,856,709 (GRCm39) |
V321I |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,187,532 (GRCm39) |
M716V |
possibly damaging |
Het |
Lcn5 |
T |
C |
2: 25,550,705 (GRCm39) |
I131T |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,306,135 (GRCm39) |
T614M |
probably benign |
Het |
Mmp3 |
G |
A |
9: 7,451,768 (GRCm39) |
E369K |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,861,500 (GRCm39) |
D94G |
unknown |
Het |
Neil1 |
T |
C |
9: 57,054,180 (GRCm39) |
I47V |
possibly damaging |
Het |
Nr5a2 |
T |
C |
1: 136,773,430 (GRCm39) |
N424S |
possibly damaging |
Het |
Or1e21 |
A |
T |
11: 73,344,906 (GRCm39) |
I44N |
possibly damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,286 (GRCm39) |
D185V |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,441 (GRCm39) |
T245A |
possibly damaging |
Het |
Or7e166 |
G |
T |
9: 19,624,743 (GRCm39) |
G207C |
probably damaging |
Het |
Pakap |
C |
A |
4: 57,855,628 (GRCm39) |
T360K |
possibly damaging |
Het |
Pde8b |
G |
T |
13: 95,182,962 (GRCm39) |
N265K |
probably damaging |
Het |
Prpf40b |
T |
C |
15: 99,203,080 (GRCm39) |
|
probably null |
Het |
Samd9l |
T |
C |
6: 3,375,107 (GRCm39) |
D718G |
possibly damaging |
Het |
Sirpb1c |
T |
C |
3: 15,887,309 (GRCm39) |
N175D |
possibly damaging |
Het |
Srgap1 |
A |
T |
10: 121,691,441 (GRCm39) |
|
probably null |
Het |
Tgm5 |
T |
A |
2: 120,884,055 (GRCm39) |
T313S |
probably damaging |
Het |
Tigar |
A |
G |
6: 127,068,145 (GRCm39) |
|
probably null |
Het |
Tmprss11b |
A |
G |
5: 86,808,326 (GRCm39) |
*417Q |
probably null |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Ttll11 |
T |
C |
2: 35,792,688 (GRCm39) |
D385G |
possibly damaging |
Het |
Zfp426 |
T |
C |
9: 20,382,541 (GRCm39) |
T135A |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATGCAGAGATGCTGCTGGCTAAG -3'
(R):5'- TACAGATTGATGAGCACACGCCGC -3'
Sequencing Primer
(F):5'- CTGGCTAAGCCTGAGGTG -3'
(R):5'- ACGAAGCGCTCAAAGACATC -3'
|
Posted On |
2013-08-08 |