Incidental Mutation 'R3013:Hspbp1'
| ID |
257564 |
| 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 |
040534-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R3013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4663520-4688067 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4666483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 299
(T299K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078886
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064099]
[ENSMUST00000079970]
[ENSMUST00000205374]
[ENSMUST00000205952]
|
| AlphaFold |
Q99P31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064099
|
| SMART Domains |
Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
Pfam:SAPS
|
128 |
378 |
4.6e-69 |
PFAM |
|
Pfam:SAPS
|
372 |
519 |
1.8e-39 |
PFAM |
|
low complexity region
|
525 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
681 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
842 |
855 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079970
AA Change: T299K
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078886
Gene: ENSMUSG00000063802
AA Change: T299K
| 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: ENSMUST00000205374
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205474
AA Change: T31K
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205812
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205952
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206708
|
| Meta Mutation Damage Score |
0.0824 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (32/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
T |
8: 124,211,416 (GRCm39) |
R126W |
probably benign |
Het |
| Alg10b |
T |
A |
15: 90,111,759 (GRCm39) |
I201N |
possibly damaging |
Het |
| Arid2 |
T |
C |
15: 96,259,817 (GRCm39) |
S326P |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,329,792 (GRCm39) |
D122G |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,070,775 (GRCm39) |
S189P |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,752,025 (GRCm39) |
V852A |
probably benign |
Het |
| Ces1e |
G |
A |
8: 93,929,915 (GRCm39) |
S455L |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,139 (GRCm39) |
K292R |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,227,847 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,847,067 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,324,358 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
T |
A |
5: 135,463,893 (GRCm39) |
E37V |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,074,497 (GRCm39) |
D470G |
probably benign |
Het |
| Mkx |
A |
T |
18: 6,936,929 (GRCm39) |
I334N |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,951,744 (GRCm39) |
L4003Q |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,614,509 (GRCm39) |
C314F |
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,089,025 (GRCm39) |
D114E |
probably damaging |
Het |
| Prr5l |
A |
G |
2: 101,565,050 (GRCm39) |
F162S |
probably damaging |
Het |
| Rbfox2 |
T |
C |
15: 77,017,120 (GRCm39) |
T17A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,470,626 (GRCm39) |
F4610L |
probably damaging |
Het |
| Scp2 |
T |
A |
4: 107,928,554 (GRCm39) |
R379W |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,285,966 (GRCm39) |
T374A |
probably damaging |
Het |
| Smad4 |
T |
C |
18: 73,781,975 (GRCm39) |
Y429C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,565,025 (GRCm39) |
T28401A |
probably damaging |
Het |
| Wdr49 |
A |
G |
3: 75,358,154 (GRCm39) |
I260T |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,848,851 (GRCm39) |
T11A |
probably benign |
Het |
| Zfp235 |
A |
G |
7: 23,840,157 (GRCm39) |
D262G |
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 |
|
|
R0670:Hspbp1
|
UTSW |
7 |
4,680,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AATACCTCATCAGTGTGATTCTCCC -3'
(R):5'- TTTATTGCAGGCACCATCCAG -3'
Sequencing Primer
(F):5'- TGGCGCACAGTGTCAGATAAC -3'
(R):5'- CAGACTTTATATTCACTGCTGGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation