Incidental Mutation 'R1204:Hspa2'
| ID |
100352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa2
|
| Ensembl Gene |
ENSMUSG00000059970 |
| Gene Name |
heat shock protein 2 |
| Synonyms |
70kDa, Hsp70-2 |
| MMRRC Submission |
039274-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1204 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
76450950-76453712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76451641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 112
(M112V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080449]
[ENSMUST00000219555]
|
| AlphaFold |
P17156 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080449
AA Change: M112V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079306
Gene: ENSMUSG00000059970
AA Change: M112V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
7 |
615 |
5.8e-269 |
PFAM |
|
Pfam:MreB_Mbl
|
117 |
383 |
8.5e-18 |
PFAM |
|
low complexity region
|
616 |
627 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180709
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217797
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219555
AA Change: M112V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit male sterility associated with lack of postmeiotic germ cells and markedly increased frequency of spermatocyte apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,328,214 (GRCm39) |
I133F |
probably damaging |
Het |
| Acyp1 |
A |
T |
12: 85,326,866 (GRCm39) |
|
probably null |
Het |
| Ermap |
T |
C |
4: 119,046,064 (GRCm39) |
K22R |
possibly damaging |
Het |
| Glce |
T |
C |
9: 61,977,849 (GRCm39) |
T12A |
probably damaging |
Het |
| Hao1 |
G |
A |
2: 134,364,947 (GRCm39) |
R227* |
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,488,548 (GRCm39) |
D3613G |
possibly damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,670 (GRCm39) |
I1124V |
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,829,584 (GRCm39) |
I738T |
probably damaging |
Het |
| Mgrn1 |
T |
G |
16: 4,725,273 (GRCm39) |
F44V |
probably damaging |
Het |
| Or1af1 |
A |
G |
2: 37,109,651 (GRCm39) |
Q50R |
probably benign |
Het |
| Otog |
G |
A |
7: 45,909,335 (GRCm39) |
V602M |
probably benign |
Het |
| Pik3r5 |
T |
G |
11: 68,385,050 (GRCm39) |
L652V |
probably benign |
Het |
| Pkdrej |
G |
A |
15: 85,702,513 (GRCm39) |
T1141M |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,573,142 (GRCm39) |
|
probably benign |
Het |
| Syt3 |
A |
T |
7: 44,042,091 (GRCm39) |
I317F |
probably damaging |
Het |
| Tmem214 |
C |
T |
5: 31,033,134 (GRCm39) |
A509V |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,706,529 (GRCm39) |
E284G |
probably benign |
Het |
| Trim9 |
T |
C |
12: 70,393,501 (GRCm39) |
N148D |
probably damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,578,031 (GRCm39) |
R447G |
probably benign |
Het |
| Zfp964 |
A |
T |
8: 70,116,668 (GRCm39) |
I423L |
probably benign |
Het |
|
| Other mutations in Hspa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Hspa2
|
APN |
12 |
76,453,123 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02946:Hspa2
|
APN |
12 |
76,451,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0504:Hspa2
|
UTSW |
12 |
76,451,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1191:Hspa2
|
UTSW |
12 |
76,452,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Hspa2
|
UTSW |
12 |
76,452,694 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2234:Hspa2
|
UTSW |
12 |
76,451,419 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2265:Hspa2
|
UTSW |
12 |
76,452,962 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4036:Hspa2
|
UTSW |
12 |
76,452,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4037:Hspa2
|
UTSW |
12 |
76,452,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4038:Hspa2
|
UTSW |
12 |
76,452,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4039:Hspa2
|
UTSW |
12 |
76,452,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4120:Hspa2
|
UTSW |
12 |
76,452,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4673:Hspa2
|
UTSW |
12 |
76,452,514 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4720:Hspa2
|
UTSW |
12 |
76,451,639 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4948:Hspa2
|
UTSW |
12 |
76,452,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5492:Hspa2
|
UTSW |
12 |
76,451,308 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R6043:Hspa2
|
UTSW |
12 |
76,453,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Hspa2
|
UTSW |
12 |
76,452,884 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7698:Hspa2
|
UTSW |
12 |
76,452,083 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9292:Hspa2
|
UTSW |
12 |
76,452,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTGGAGATCATCGCCAACGAC -3'
(R):5'- AAGATGAGCACGTTCTTCTCGCCG -3'
Sequencing Primer
(F):5'- TGACACCGAGCGTCTCATC -3'
(R):5'- TTATCCAGGCCGTAGGCG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation