Incidental Mutation 'R0670:Hspbp1'
ID |
61393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hspbp1
|
Ensembl Gene |
ENSMUSG00000063802 |
Gene Name |
HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 |
Synonyms |
1500019G21Rik |
MMRRC Submission |
038855-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R0670 (G1)
|
Quality Score |
182 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
4663520-4688067 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4680735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 247
(V247A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146248
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079970]
[ENSMUST00000205952]
[ENSMUST00000206306]
[ENSMUST00000206946]
|
AlphaFold |
Q99P31 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079970
AA Change: V202A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000078886 Gene: ENSMUSG00000063802 AA Change: V202A
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
35 |
N/A |
INTRINSIC |
Pfam:Fes1
|
43 |
138 |
2.5e-12 |
PFAM |
SCOP:d1ee4a_
|
150 |
302 |
2e-12 |
SMART |
Blast:ARM
|
216 |
256 |
3e-11 |
BLAST |
Blast:ARM
|
259 |
299 |
4e-13 |
BLAST |
low complexity region
|
306 |
342 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205952
AA Change: V202A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206306
AA Change: V202A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206946
AA Change: V247A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation show male infertility with an arrest of male meiosis, increased male germ cell apoptosis and azoospermia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
Abraxas2 |
A |
T |
7: 132,470,760 (GRCm39) |
|
probably null |
Het |
Afap1l2 |
G |
A |
19: 56,904,235 (GRCm39) |
T684I |
probably damaging |
Het |
Ahcyl1 |
A |
T |
3: 107,578,481 (GRCm39) |
V205E |
probably damaging |
Het |
Ap4e1 |
T |
A |
2: 126,853,784 (GRCm39) |
|
probably null |
Het |
Brms1 |
C |
A |
19: 5,095,999 (GRCm39) |
N24K |
probably damaging |
Het |
Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,180,544 (GRCm39) |
K130E |
possibly damaging |
Het |
Crisp1 |
A |
C |
17: 40,616,001 (GRCm39) |
Y125* |
probably null |
Het |
Dnhd1 |
A |
T |
7: 105,345,671 (GRCm39) |
D2272V |
possibly damaging |
Het |
Elmod1 |
A |
G |
9: 53,820,106 (GRCm39) |
V294A |
probably damaging |
Het |
Gmfg |
T |
A |
7: 28,140,953 (GRCm39) |
I33K |
probably damaging |
Het |
Gsk3b |
G |
T |
16: 37,964,678 (GRCm39) |
D49Y |
probably damaging |
Het |
H2-T5 |
G |
C |
17: 36,478,990 (GRCm39) |
F86L |
possibly damaging |
Het |
Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
Kif17 |
A |
T |
4: 137,989,810 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
T |
A |
16: 19,768,309 (GRCm39) |
H412L |
possibly damaging |
Het |
Muc1 |
A |
G |
3: 89,137,839 (GRCm39) |
D227G |
probably benign |
Het |
Nat8f5 |
A |
T |
6: 85,794,957 (GRCm39) |
M1K |
probably null |
Het |
Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
Nfrkb |
A |
T |
9: 31,331,469 (GRCm39) |
Q1295L |
probably benign |
Het |
Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
Pcdhb2 |
A |
T |
18: 37,429,701 (GRCm39) |
D558V |
probably damaging |
Het |
Pdilt |
T |
C |
7: 119,099,651 (GRCm39) |
K206E |
probably benign |
Het |
Pkn2 |
A |
T |
3: 142,545,104 (GRCm39) |
I23K |
probably damaging |
Het |
Plec |
A |
T |
15: 76,090,160 (GRCm39) |
L60Q |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,316,520 (GRCm39) |
D2413E |
probably benign |
Het |
Socs1 |
A |
G |
16: 10,602,126 (GRCm39) |
Y204H |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,196,526 (GRCm39) |
D301G |
possibly damaging |
Het |
Tlr5 |
T |
A |
1: 182,801,454 (GRCm39) |
W253R |
probably damaging |
Het |
Treml2 |
A |
G |
17: 48,614,864 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,579,448 (GRCm39) |
L22069P |
probably damaging |
Het |
Vps13c |
G |
T |
9: 67,833,139 (GRCm39) |
S1614I |
probably benign |
Het |
Vrk2 |
C |
T |
11: 26,436,959 (GRCm39) |
|
probably null |
Het |
Xrn1 |
A |
G |
9: 95,873,109 (GRCm39) |
Y655C |
probably damaging |
Het |
|
Other mutations in Hspbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00921:Hspbp1
|
APN |
7 |
4,667,750 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02072:Hspbp1
|
APN |
7 |
4,680,720 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02548:Hspbp1
|
APN |
7 |
4,684,840 (GRCm39) |
splice site |
probably benign |
|
IGL02573:Hspbp1
|
APN |
7 |
4,680,852 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03177:Hspbp1
|
APN |
7 |
4,667,700 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03181:Hspbp1
|
APN |
7 |
4,687,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R0568:Hspbp1
|
UTSW |
7 |
4,687,431 (GRCm39) |
nonsense |
probably null |
|
R3013:Hspbp1
|
UTSW |
7 |
4,666,483 (GRCm39) |
missense |
probably benign |
0.18 |
R3729:Hspbp1
|
UTSW |
7 |
4,680,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R3934:Hspbp1
|
UTSW |
7 |
4,667,594 (GRCm39) |
missense |
probably benign |
0.41 |
R6031:Hspbp1
|
UTSW |
7 |
4,666,465 (GRCm39) |
missense |
probably benign |
0.28 |
R6031:Hspbp1
|
UTSW |
7 |
4,666,465 (GRCm39) |
missense |
probably benign |
0.28 |
R6034:Hspbp1
|
UTSW |
7 |
4,680,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R6034:Hspbp1
|
UTSW |
7 |
4,680,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R6728:Hspbp1
|
UTSW |
7 |
4,663,781 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6797:Hspbp1
|
UTSW |
7 |
4,663,781 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6930:Hspbp1
|
UTSW |
7 |
4,687,606 (GRCm39) |
missense |
probably benign |
|
R6992:Hspbp1
|
UTSW |
7 |
4,667,714 (GRCm39) |
missense |
probably benign |
0.23 |
R7459:Hspbp1
|
UTSW |
7 |
4,687,577 (GRCm39) |
missense |
probably benign |
0.00 |
R7525:Hspbp1
|
UTSW |
7 |
4,666,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R7608:Hspbp1
|
UTSW |
7 |
4,663,821 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7962:Hspbp1
|
UTSW |
7 |
4,684,841 (GRCm39) |
critical splice donor site |
probably null |
|
R8812:Hspbp1
|
UTSW |
7 |
4,667,783 (GRCm39) |
missense |
probably benign |
0.01 |
R8971:Hspbp1
|
UTSW |
7 |
4,684,858 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTCATCTATCAGCACCATCAGGG -3'
(R):5'- TAAGGAGTAAGCGGTCAGCCTGTG -3'
Sequencing Primer
(F):5'- ACTACTCTGGCTCCTGCAC -3'
(R):5'- TGTCCATAGATTTCTGCCAGC -3'
|
Posted On |
2013-07-30 |