Incidental Mutation 'R6797:Hspbp1'
ID |
533049 |
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 |
044910-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R6797 (G1)
|
Quality Score |
183.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
4663520-4688067 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4663781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 355
(M355L)
|
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 |
possibly damaging
Transcript: ENSMUST00000079970
AA Change: M355L
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000078886 Gene: ENSMUSG00000063802 AA Change: M355L
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 |
probably benign
Transcript: ENSMUST00000205474
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205812
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205952
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206708
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206391
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
Validation Efficiency |
100% (42/42) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c18 |
T |
A |
13: 4,195,276 (GRCm39) |
I61L |
probably benign |
Het |
Angptl2 |
T |
C |
2: 33,118,277 (GRCm39) |
V17A |
probably benign |
Het |
Casp14 |
T |
C |
10: 78,550,975 (GRCm39) |
D70G |
possibly damaging |
Het |
Cckbr |
A |
G |
7: 105,083,773 (GRCm39) |
M234V |
possibly damaging |
Het |
Cd93 |
T |
C |
2: 148,284,044 (GRCm39) |
N434S |
probably benign |
Het |
Cenpe |
A |
T |
3: 134,943,899 (GRCm39) |
Q938L |
possibly damaging |
Het |
Col6a3 |
A |
C |
1: 90,731,810 (GRCm39) |
V1481G |
probably damaging |
Het |
Dnah5 |
G |
T |
15: 28,233,384 (GRCm39) |
E248* |
probably null |
Het |
Dnah5 |
G |
A |
15: 28,451,609 (GRCm39) |
R4349Q |
probably damaging |
Het |
F11 |
A |
G |
8: 45,706,092 (GRCm39) |
Y98H |
probably benign |
Het |
Fen1 |
A |
G |
19: 10,178,067 (GRCm39) |
F126L |
probably benign |
Het |
Gpr146 |
G |
A |
5: 139,378,795 (GRCm39) |
G199D |
possibly damaging |
Het |
Gramd1b |
A |
G |
9: 40,219,702 (GRCm39) |
I324T |
probably benign |
Het |
H2bc12 |
A |
T |
13: 22,220,259 (GRCm39) |
N68I |
probably benign |
Het |
Hivep1 |
C |
A |
13: 42,310,557 (GRCm39) |
S932R |
probably benign |
Het |
Hk3 |
A |
T |
13: 55,158,644 (GRCm39) |
|
probably null |
Het |
Jaml |
T |
C |
9: 45,000,058 (GRCm39) |
C77R |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,687,505 (GRCm39) |
N452D |
possibly damaging |
Het |
Krt5 |
T |
C |
15: 101,621,076 (GRCm39) |
Y57C |
unknown |
Het |
Lipn |
A |
T |
19: 34,058,160 (GRCm39) |
M294L |
probably benign |
Het |
Magel2 |
A |
G |
7: 62,029,907 (GRCm39) |
E937G |
unknown |
Het |
Med13l |
G |
A |
5: 118,897,329 (GRCm39) |
|
probably null |
Het |
Mrgprb8 |
G |
A |
7: 48,038,892 (GRCm39) |
V188I |
probably benign |
Het |
Ocln |
T |
C |
13: 100,676,223 (GRCm39) |
D90G |
probably damaging |
Het |
Ofcc1 |
C |
T |
13: 40,241,423 (GRCm39) |
R695Q |
possibly damaging |
Het |
Or11h23 |
T |
A |
14: 50,948,563 (GRCm39) |
Y259N |
probably damaging |
Het |
Or52ab7 |
G |
A |
7: 102,978,328 (GRCm39) |
V212I |
probably benign |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Pak5 |
A |
T |
2: 135,939,454 (GRCm39) |
H560Q |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,480,694 (GRCm39) |
S493P |
probably damaging |
Het |
Ppp6r3 |
A |
G |
19: 3,564,719 (GRCm39) |
W185R |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,450,522 (GRCm39) |
D4189E |
probably damaging |
Het |
Serpinb9b |
A |
G |
13: 33,213,467 (GRCm39) |
N8S |
possibly damaging |
Het |
Slit3 |
A |
G |
11: 35,524,779 (GRCm39) |
T730A |
possibly damaging |
Het |
Srgap3 |
A |
T |
6: 112,806,503 (GRCm39) |
F53I |
probably damaging |
Het |
Stc2 |
T |
A |
11: 31,315,351 (GRCm39) |
K163* |
probably null |
Het |
Tasor2 |
T |
C |
13: 3,626,769 (GRCm39) |
I1060M |
probably benign |
Het |
Tlk1 |
T |
A |
2: 70,568,770 (GRCm39) |
K411* |
probably null |
Het |
Ttc27 |
G |
T |
17: 75,036,883 (GRCm39) |
L185F |
probably benign |
Het |
Vmn2r102 |
C |
T |
17: 19,880,694 (GRCm39) |
Q12* |
probably null |
Het |
Vmn2r95 |
C |
T |
17: 18,672,551 (GRCm39) |
|
probably benign |
Het |
Vopp1 |
A |
G |
6: 57,739,492 (GRCm39) |
Y19H |
possibly damaging |
Het |
Wdr64 |
T |
A |
1: 175,638,176 (GRCm39) |
|
probably null |
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 |
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 |
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'- TTTGAAGAGCAGTGTGGACATG -3'
(R):5'- TCATGATTGGCGCAGTGGTC -3'
Sequencing Primer
(F):5'- GGCCAGCACCTTTCTCAG -3'
(R):5'- CAGTGGTCCTTGGGAAAGGC -3'
|
Posted On |
2018-08-29 |