Incidental Mutation 'R1346:Hspbap1'
| ID |
156522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspbap1
|
| Ensembl Gene |
ENSMUSG00000022849 |
| Gene Name |
Hspb associated protein 1 |
| Synonyms |
3830421G21Rik |
| MMRRC Submission |
039411-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
35590745-35648847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35622035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 127
(A127T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023555]
[ENSMUST00000231579]
|
| AlphaFold |
Q8BK58 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023555
AA Change: A127T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023555
Gene: ENSMUSG00000022849
AA Change: A127T
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
126 |
288 |
1.29e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180485
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231579
AA Change: A127T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231802
|
| Meta Mutation Damage Score |
0.4224 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.1%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
A |
14: 32,382,771 (GRCm39) |
A1065S |
probably benign |
Het |
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
| Arap3 |
A |
T |
18: 38,108,971 (GRCm39) |
C1228S |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,958 (GRCm39) |
T1248A |
probably benign |
Het |
| Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,215,263 (GRCm39) |
Q374* |
probably null |
Het |
| Cacng6 |
G |
T |
7: 3,483,438 (GRCm39) |
W255C |
possibly damaging |
Het |
| Camta2 |
T |
C |
11: 70,567,293 (GRCm39) |
K628R |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,881,759 (GRCm39) |
|
probably null |
Het |
| Cers4 |
A |
G |
8: 4,565,632 (GRCm39) |
E26G |
probably damaging |
Het |
| Chfr |
A |
G |
5: 110,288,313 (GRCm39) |
D76G |
probably damaging |
Het |
| Chrng |
C |
A |
1: 87,135,985 (GRCm39) |
Q245K |
probably benign |
Het |
| Cnn2 |
T |
C |
10: 79,829,414 (GRCm39) |
|
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,695,624 (GRCm39) |
K545E |
possibly damaging |
Het |
| Eif3d |
A |
G |
15: 77,852,754 (GRCm39) |
I9T |
probably damaging |
Het |
| Elovl7 |
A |
G |
13: 108,410,883 (GRCm39) |
I153V |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,810,955 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
T |
16: 91,425,070 (GRCm39) |
|
probably null |
Het |
| Gm572 |
G |
A |
4: 148,739,354 (GRCm39) |
V61M |
possibly damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
| Kcnrg |
A |
G |
14: 61,849,144 (GRCm39) |
T202A |
probably benign |
Het |
| Lhx1 |
T |
C |
11: 84,412,905 (GRCm39) |
E36G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,441,735 (GRCm39) |
N167S |
probably damaging |
Het |
| Parp9 |
A |
T |
16: 35,777,267 (GRCm39) |
M171L |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,013,253 (GRCm39) |
R356W |
probably damaging |
Het |
| Ppp4c |
C |
T |
7: 126,391,222 (GRCm39) |
|
probably benign |
Het |
| Rab3c |
G |
A |
13: 110,397,120 (GRCm39) |
R49C |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,691,167 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
T |
A |
19: 44,986,091 (GRCm39) |
S311T |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,053,090 (GRCm39) |
I21V |
possibly damaging |
Het |
| Slc25a32 |
T |
A |
15: 38,963,411 (GRCm39) |
I137F |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,543,929 (GRCm39) |
V4409A |
probably damaging |
Het |
| Stx2 |
G |
A |
5: 129,065,852 (GRCm39) |
|
probably benign |
Het |
| Timeless |
C |
T |
10: 128,078,234 (GRCm39) |
T248M |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,743,900 (GRCm39) |
N728Y |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,687,812 (GRCm39) |
N913Y |
possibly damaging |
Het |
|
| Other mutations in Hspbap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00695:Hspbap1
|
APN |
16 |
35,634,431 (GRCm39) |
splice site |
probably benign |
|
|
IGL01377:Hspbap1
|
APN |
16 |
35,645,681 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03070:Hspbap1
|
APN |
16 |
35,639,096 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1099:Hspbap1
|
UTSW |
16 |
35,645,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1532:Hspbap1
|
UTSW |
16 |
35,645,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Hspbap1
|
UTSW |
16 |
35,639,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1867:Hspbap1
|
UTSW |
16 |
35,621,934 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4512:Hspbap1
|
UTSW |
16 |
35,607,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4718:Hspbap1
|
UTSW |
16 |
35,607,692 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5553:Hspbap1
|
UTSW |
16 |
35,621,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Hspbap1
|
UTSW |
16 |
35,622,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Hspbap1
|
UTSW |
16 |
35,637,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6612:Hspbap1
|
UTSW |
16 |
35,621,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7253:Hspbap1
|
UTSW |
16 |
35,637,600 (GRCm39) |
missense |
unknown |
|
|
R7314:Hspbap1
|
UTSW |
16 |
35,645,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8256:Hspbap1
|
UTSW |
16 |
35,590,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8304:Hspbap1
|
UTSW |
16 |
35,607,695 (GRCm39) |
nonsense |
probably null |
|
|
R8359:Hspbap1
|
UTSW |
16 |
35,645,366 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9337:Hspbap1
|
UTSW |
16 |
35,645,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACACAGGCTCCCTGAGTAAAGAAC -3'
(R):5'- GCCTTTGGCTTCAGTGGGTAAACC -3'
Sequencing Primer
(F):5'- tccctctcccctttcttcc -3'
(R):5'- CTTCAGTGGGTAAACCTGTCAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation