Incidental Mutation 'IGL02072:Hspbp1'
| ID |
185857 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hspbp1
|
| Ensembl Gene |
ENSMUSG00000063802 |
| Gene Name |
HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 |
| Synonyms |
1500019G21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL02072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
4663520-4688067 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4680720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 252
(L252H)
|
| 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: L207H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078886
Gene: ENSMUSG00000063802
AA Change: L207H
| 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: L207H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206306
AA Change: L207H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206946
AA Change: L252H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595D18Rik |
T |
A |
12: 111,128,254 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
G |
9: 53,371,096 (GRCm39) |
S2251P |
probably benign |
Het |
| C1qtnf6 |
T |
A |
15: 78,411,551 (GRCm39) |
K42* |
probably null |
Het |
| Ddx20 |
A |
T |
3: 105,587,943 (GRCm39) |
V379E |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,644,986 (GRCm39) |
W1017R |
probably damaging |
Het |
| Eif2s1 |
T |
A |
12: 78,926,788 (GRCm39) |
N179K |
probably benign |
Het |
| Exosc9 |
A |
T |
3: 36,608,821 (GRCm39) |
N140I |
probably damaging |
Het |
| Fancg |
A |
C |
4: 43,007,062 (GRCm39) |
H238Q |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,721,031 (GRCm39) |
I110V |
probably damaging |
Het |
| G6pd2 |
A |
T |
5: 61,966,753 (GRCm39) |
D176V |
probably damaging |
Het |
| Gm5114 |
A |
G |
7: 39,060,826 (GRCm39) |
S8P |
probably benign |
Het |
| Hoxa1 |
T |
A |
6: 52,133,878 (GRCm39) |
M283L |
probably damaging |
Het |
| Itgb2l |
A |
T |
16: 96,231,808 (GRCm39) |
D319E |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,120,528 (GRCm39) |
T737A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,610,430 (GRCm39) |
D225E |
possibly damaging |
Het |
| Lamb2 |
T |
A |
9: 108,359,107 (GRCm39) |
Y274* |
probably null |
Het |
| Lratd2 |
A |
G |
15: 60,695,302 (GRCm39) |
L148P |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,458,351 (GRCm39) |
L353P |
probably damaging |
Het |
| Mid2 |
T |
A |
X: 139,637,201 (GRCm39) |
H258Q |
probably damaging |
Het |
| Msh3 |
A |
C |
13: 92,436,803 (GRCm39) |
N502K |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,770 (GRCm39) |
H769R |
probably benign |
Het |
| Nfx1 |
A |
G |
4: 41,016,119 (GRCm39) |
I894V |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,366,048 (GRCm39) |
Q1018* |
probably null |
Het |
| Oas1e |
A |
G |
5: 120,929,846 (GRCm39) |
|
probably null |
Het |
| Or4f14d |
A |
T |
2: 111,960,426 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,245 (GRCm39) |
I145T |
probably benign |
Het |
| Plekha4 |
T |
A |
7: 45,187,722 (GRCm39) |
F265I |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,313,978 (GRCm39) |
I762T |
probably benign |
Het |
| Spag1 |
C |
A |
15: 36,190,658 (GRCm39) |
P158Q |
probably damaging |
Het |
| Spout1 |
G |
A |
2: 30,067,938 (GRCm39) |
Q26* |
probably null |
Het |
| Sulf1 |
T |
C |
1: 12,918,432 (GRCm39) |
Y50H |
probably damaging |
Het |
| Sytl5 |
C |
T |
X: 9,829,825 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,637 (GRCm39) |
E663G |
possibly damaging |
Het |
| Tmc3 |
A |
G |
7: 83,265,148 (GRCm39) |
I681V |
probably benign |
Het |
| Tnfsf4 |
G |
T |
1: 161,244,860 (GRCm39) |
C183F |
probably damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,790,506 (GRCm39) |
L528Q |
possibly damaging |
Het |
| Upf3a |
A |
C |
8: 13,848,368 (GRCm39) |
Q388P |
probably damaging |
Het |
| Vrk1 |
T |
C |
12: 106,009,144 (GRCm39) |
V70A |
probably benign |
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 |
|
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 |
|
|
R0670:Hspbp1
|
UTSW |
7 |
4,680,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation