Incidental Mutation 'IGL00921:Hspbp1'
ID |
27804 |
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 # |
IGL00921
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
4663520-4688067 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4667750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 248
(S248P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079970]
[ENSMUST00000205952]
|
AlphaFold |
Q99P31 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079970
AA Change: S248P
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000078886 Gene: ENSMUSG00000063802 AA Change: S248P
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 benign
Transcript: ENSMUST00000205474
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205812
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205952
AA Change: S248P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206708
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,324,888 (GRCm39) |
I1530T |
probably damaging |
Het |
Actb |
T |
C |
5: 142,890,191 (GRCm39) |
E237G |
probably damaging |
Het |
Atrnl1 |
A |
G |
19: 57,690,585 (GRCm39) |
E931G |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,185,387 (GRCm39) |
T375A |
probably benign |
Het |
D1Pas1 |
A |
G |
1: 186,700,983 (GRCm39) |
D304G |
probably benign |
Het |
Ddx49 |
G |
A |
8: 70,747,406 (GRCm39) |
Q345* |
probably null |
Het |
Dnttip2 |
A |
T |
3: 122,068,939 (GRCm39) |
K51N |
probably benign |
Het |
Fxr2 |
A |
G |
11: 69,543,066 (GRCm39) |
E621G |
probably damaging |
Het |
Grhpr |
A |
G |
4: 44,988,991 (GRCm39) |
D216G |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Hook2 |
T |
C |
8: 85,729,126 (GRCm39) |
|
probably benign |
Het |
Kat6a |
C |
T |
8: 23,430,279 (GRCm39) |
P1878L |
unknown |
Het |
Klrg1 |
A |
T |
6: 122,259,711 (GRCm39) |
D20E |
probably benign |
Het |
Layn |
G |
A |
9: 50,968,708 (GRCm39) |
T345I |
probably damaging |
Het |
Mpi |
G |
A |
9: 57,459,549 (GRCm39) |
L9F |
probably damaging |
Het |
Nbn |
T |
C |
4: 15,963,833 (GRCm39) |
V78A |
possibly damaging |
Het |
Pkdrej |
A |
G |
15: 85,701,427 (GRCm39) |
I1503T |
probably damaging |
Het |
Pou2f2 |
C |
A |
7: 24,792,125 (GRCm39) |
E577* |
probably null |
Het |
Prim2 |
G |
T |
1: 33,551,241 (GRCm39) |
H292Q |
probably damaging |
Het |
Tg |
A |
G |
15: 66,636,302 (GRCm39) |
N630D |
probably benign |
Het |
Trim80 |
A |
G |
11: 115,338,490 (GRCm39) |
N440S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,766,746 (GRCm39) |
S3111G |
probably damaging |
Het |
Ubash3a |
A |
G |
17: 31,447,160 (GRCm39) |
T339A |
probably benign |
Het |
Zbtb21 |
A |
C |
16: 97,753,222 (GRCm39) |
S354A |
probably damaging |
Het |
Zfp335 |
T |
C |
2: 164,736,696 (GRCm39) |
T980A |
possibly damaging |
Het |
|
Other mutations in Hspbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-04-17 |