Incidental Mutation 'R5228:Hspa12b'
ID |
402717 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hspa12b
|
Ensembl Gene |
ENSMUSG00000074793 |
Gene Name |
heat shock protein 12B |
Synonyms |
2700081N06Rik |
MMRRC Submission |
042801-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R5228 (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 130984884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 385
(V385A)
|
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 |
possibly damaging
Transcript: ENSMUST00000099349
AA Change: V385A
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000096950 Gene: ENSMUSG00000074793 AA Change: V385A
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
C |
13: 12,303,545 (GRCm39) |
|
probably null |
Het |
Agrn |
G |
T |
4: 156,251,403 (GRCm39) |
A1864D |
probably damaging |
Het |
Ahnak2 |
A |
G |
12: 112,741,820 (GRCm39) |
S751P |
probably benign |
Het |
Aifm2 |
T |
C |
10: 61,568,196 (GRCm39) |
V201A |
probably damaging |
Het |
C1rl |
C |
T |
6: 124,485,427 (GRCm39) |
A266V |
probably damaging |
Het |
Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,476,768 (GRCm39) |
|
probably null |
Het |
Frmpd1 |
T |
C |
4: 45,284,322 (GRCm39) |
S1048P |
probably damaging |
Het |
Galnt16 |
A |
T |
12: 80,630,822 (GRCm39) |
D300V |
probably damaging |
Het |
Gbp8 |
G |
T |
5: 105,164,051 (GRCm39) |
Q416K |
probably benign |
Het |
Gldn |
C |
T |
9: 54,242,003 (GRCm39) |
T319I |
probably damaging |
Het |
Gli2 |
T |
A |
1: 118,763,936 (GRCm39) |
D1405V |
probably damaging |
Het |
Gtsf2 |
A |
G |
15: 103,353,042 (GRCm39) |
Y45H |
probably damaging |
Het |
Hmcn1 |
C |
A |
1: 150,522,452 (GRCm39) |
V3483F |
probably benign |
Het |
Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
Inpp4b |
C |
G |
8: 82,494,744 (GRCm39) |
P53R |
probably damaging |
Het |
Ipo7 |
T |
A |
7: 109,645,969 (GRCm39) |
C504S |
probably benign |
Het |
Iws1 |
A |
G |
18: 32,221,314 (GRCm39) |
D549G |
probably damaging |
Het |
Kcnh4 |
T |
C |
11: 100,637,722 (GRCm39) |
D645G |
probably damaging |
Het |
Klhl40 |
A |
G |
9: 121,606,867 (GRCm39) |
E9G |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,635,439 (GRCm39) |
V810A |
probably damaging |
Het |
Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
N4bp2 |
T |
C |
5: 65,964,861 (GRCm39) |
V970A |
probably benign |
Het |
Pira2 |
T |
A |
7: 3,847,373 (GRCm39) |
K105N |
probably benign |
Het |
Pml |
G |
A |
9: 58,127,280 (GRCm39) |
R61C |
probably damaging |
Het |
Pms2 |
T |
C |
5: 143,860,415 (GRCm39) |
L76P |
probably damaging |
Het |
Rlbp1 |
T |
G |
7: 79,027,082 (GRCm39) |
T193P |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGG |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
Sh3rf2 |
T |
C |
18: 42,286,246 (GRCm39) |
S548P |
possibly damaging |
Het |
Slc4a4 |
A |
G |
5: 89,304,384 (GRCm39) |
D609G |
possibly damaging |
Het |
Slk |
A |
T |
19: 47,613,771 (GRCm39) |
I876F |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,740,156 (GRCm39) |
P432S |
probably benign |
Het |
Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
Topors |
G |
C |
4: 40,262,367 (GRCm39) |
L306V |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,929,844 (GRCm39) |
S171T |
probably damaging |
Het |
Ube2m |
G |
T |
7: 12,769,697 (GRCm39) |
|
probably benign |
Het |
Vmn1r37 |
T |
C |
6: 66,709,282 (GRCm39) |
*266Q |
probably null |
Het |
Vmn2r34 |
T |
C |
7: 7,675,340 (GRCm39) |
T683A |
probably 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 |
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 |
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'- CAAGGAGCTCTACAAGGCTTCTG -3'
(R):5'- TGAGCCTTCGTGAACCTGTG -3'
Sequencing Primer
(F):5'- TCTACAAGGCTTCTGGCAAG -3'
(R):5'- TCGTGAACCTGTGCCCAC -3'
|
Posted On |
2016-07-22 |