Incidental Mutation 'IGL02059:Ppp1r13b'
| ID |
185330 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1r13b
|
| Ensembl Gene |
ENSMUSG00000021285 |
| Gene Name |
protein phosphatase 1, regulatory subunit 13B |
| Synonyms |
ASPP1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
IGL02059
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
111794891-111874544 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111799781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 665
(D665E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021714]
[ENSMUST00000054815]
[ENSMUST00000220486]
[ENSMUST00000221375]
[ENSMUST00000222843]
|
| AlphaFold |
Q62415 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021714
|
| SMART Domains |
Protein: ENSMUSP00000021714
Gene: ENSMUSG00000021286
| Domain | Start | End | E-Value | Type |
|---|
|
FYVE
|
36 |
105 |
7.11e-16 |
SMART |
|
Pfam:ZFYVE21_C
|
108 |
233 |
1.1e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054815
AA Change: D788E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: D788E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2UWQ|A
|
1 |
83 |
8e-35 |
PDB |
|
Blast:RA
|
5 |
84 |
3e-47 |
BLAST |
|
coiled coil region
|
123 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
625 |
N/A |
INTRINSIC |
|
PDB:4IRV|H
|
695 |
741 |
1e-12 |
PDB |
|
ANK
|
917 |
946 |
4.16e-7 |
SMART |
|
ANK
|
950 |
979 |
4.63e-5 |
SMART |
|
SH3
|
1019 |
1077 |
1.79e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220486
AA Change: D665E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221375
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222843
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
C |
11: 110,051,220 (GRCm39) |
|
probably benign |
Het |
| Anks1 |
A |
G |
17: 28,227,020 (GRCm39) |
M558V |
possibly damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,611,977 (GRCm39) |
|
probably benign |
Het |
| Atad3a |
G |
A |
4: 155,839,207 (GRCm39) |
|
probably benign |
Het |
| Bhmt2 |
A |
G |
13: 93,803,171 (GRCm39) |
Y121H |
probably benign |
Het |
| Cbx5 |
A |
G |
15: 103,108,192 (GRCm39) |
V151A |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,927,320 (GRCm39) |
I231N |
probably damaging |
Het |
| Csf3r |
T |
A |
4: 125,925,920 (GRCm39) |
C168* |
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,963,784 (GRCm39) |
I1723N |
probably damaging |
Het |
| Epb42 |
G |
A |
2: 120,855,188 (GRCm39) |
P466S |
probably damaging |
Het |
| Fem1b |
C |
T |
9: 62,703,446 (GRCm39) |
V605I |
possibly damaging |
Het |
| Gclc |
T |
G |
9: 77,695,098 (GRCm39) |
S403A |
probably damaging |
Het |
| Gpr135 |
A |
T |
12: 72,116,858 (GRCm39) |
V303D |
possibly damaging |
Het |
| Gprin3 |
C |
A |
6: 59,332,310 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
T |
A |
16: 87,852,937 (GRCm39) |
Q82L |
possibly damaging |
Het |
| Hacl1 |
T |
C |
14: 31,354,891 (GRCm39) |
N118D |
probably benign |
Het |
| Hdac9 |
A |
G |
12: 34,481,967 (GRCm39) |
V146A |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,160,621 (GRCm39) |
F763L |
probably benign |
Het |
| Impg2 |
C |
T |
16: 56,080,335 (GRCm39) |
S713L |
probably damaging |
Het |
| Ints7 |
T |
A |
1: 191,347,872 (GRCm39) |
M748K |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,072,711 (GRCm39) |
S724P |
possibly damaging |
Het |
| Kyat1 |
T |
C |
2: 30,075,565 (GRCm39) |
Q359R |
probably benign |
Het |
| Mtmr4 |
A |
G |
11: 87,491,950 (GRCm39) |
N206S |
possibly damaging |
Het |
| Nos3 |
T |
C |
5: 24,573,996 (GRCm39) |
I227T |
probably damaging |
Het |
| Or52e2 |
T |
C |
7: 102,804,310 (GRCm39) |
I215V |
probably benign |
Het |
| Pde1a |
A |
T |
2: 79,727,421 (GRCm39) |
H169Q |
possibly damaging |
Het |
| Prickle4 |
G |
T |
17: 48,001,174 (GRCm39) |
L131M |
probably damaging |
Het |
| Prl6a1 |
T |
A |
13: 27,499,348 (GRCm39) |
Y39N |
probably benign |
Het |
| Slco6d1 |
T |
C |
1: 98,374,531 (GRCm39) |
V350A |
possibly damaging |
Het |
| Srsf7 |
T |
A |
17: 80,510,121 (GRCm39) |
S209C |
probably null |
Het |
| Syde2 |
C |
T |
3: 145,707,927 (GRCm39) |
A622V |
possibly damaging |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,403 (GRCm39) |
S70T |
possibly damaging |
Het |
| Vmn2r39 |
T |
C |
7: 9,026,643 (GRCm39) |
I453V |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,978,862 (GRCm39) |
|
probably benign |
Het |
| Zeb1 |
G |
T |
18: 5,766,892 (GRCm39) |
V468F |
probably damaging |
Het |
| Zfp148 |
T |
A |
16: 33,316,933 (GRCm39) |
V493D |
probably damaging |
Het |
|
| Other mutations in Ppp1r13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Ppp1r13b
|
APN |
12 |
111,795,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01102:Ppp1r13b
|
APN |
12 |
111,799,653 (GRCm39) |
missense |
probably benign |
|
|
IGL01621:Ppp1r13b
|
APN |
12 |
111,801,526 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01677:Ppp1r13b
|
APN |
12 |
111,810,099 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01720:Ppp1r13b
|
APN |
12 |
111,824,694 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01921:Ppp1r13b
|
APN |
12 |
111,799,671 (GRCm39) |
missense |
probably benign |
|
|
IGL02187:Ppp1r13b
|
APN |
12 |
111,801,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02262:Ppp1r13b
|
APN |
12 |
111,801,645 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02385:Ppp1r13b
|
APN |
12 |
111,801,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02894:Ppp1r13b
|
APN |
12 |
111,797,888 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03027:Ppp1r13b
|
APN |
12 |
111,796,830 (GRCm39) |
nonsense |
probably null |
|
|
IGL03049:Ppp1r13b
|
APN |
12 |
111,799,663 (GRCm39) |
missense |
probably benign |
0.29 |
|
PIT4468001:Ppp1r13b
|
UTSW |
12 |
111,805,136 (GRCm39) |
missense |
probably benign |
0.08 |
|
PIT4472001:Ppp1r13b
|
UTSW |
12 |
111,799,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0393:Ppp1r13b
|
UTSW |
12 |
111,802,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0561:Ppp1r13b
|
UTSW |
12 |
111,832,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1067:Ppp1r13b
|
UTSW |
12 |
111,801,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Ppp1r13b
|
UTSW |
12 |
111,811,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Ppp1r13b
|
UTSW |
12 |
111,811,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Ppp1r13b
|
UTSW |
12 |
111,838,842 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1563:Ppp1r13b
|
UTSW |
12 |
111,807,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Ppp1r13b
|
UTSW |
12 |
111,801,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Ppp1r13b
|
UTSW |
12 |
111,800,222 (GRCm39) |
missense |
probably benign |
|
|
R2134:Ppp1r13b
|
UTSW |
12 |
111,800,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2306:Ppp1r13b
|
UTSW |
12 |
111,811,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3508:Ppp1r13b
|
UTSW |
12 |
111,838,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3767:Ppp1r13b
|
UTSW |
12 |
111,812,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4237:Ppp1r13b
|
UTSW |
12 |
111,805,170 (GRCm39) |
missense |
probably benign |
|
|
R4278:Ppp1r13b
|
UTSW |
12 |
111,796,818 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4690:Ppp1r13b
|
UTSW |
12 |
111,798,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Ppp1r13b
|
UTSW |
12 |
111,799,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5094:Ppp1r13b
|
UTSW |
12 |
111,810,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5250:Ppp1r13b
|
UTSW |
12 |
111,811,394 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5444:Ppp1r13b
|
UTSW |
12 |
111,805,122 (GRCm39) |
missense |
probably benign |
|
|
R5607:Ppp1r13b
|
UTSW |
12 |
111,800,223 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5874:Ppp1r13b
|
UTSW |
12 |
111,811,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Ppp1r13b
|
UTSW |
12 |
111,796,876 (GRCm39) |
missense |
probably benign |
|
|
R6074:Ppp1r13b
|
UTSW |
12 |
111,798,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6253:Ppp1r13b
|
UTSW |
12 |
111,802,160 (GRCm39) |
missense |
probably benign |
|
|
R6511:Ppp1r13b
|
UTSW |
12 |
111,798,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6836:Ppp1r13b
|
UTSW |
12 |
111,801,629 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6968:Ppp1r13b
|
UTSW |
12 |
111,799,612 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7269:Ppp1r13b
|
UTSW |
12 |
111,801,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7284:Ppp1r13b
|
UTSW |
12 |
111,801,400 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7304:Ppp1r13b
|
UTSW |
12 |
111,838,840 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7314:Ppp1r13b
|
UTSW |
12 |
111,812,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7393:Ppp1r13b
|
UTSW |
12 |
111,805,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7639:Ppp1r13b
|
UTSW |
12 |
111,800,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7873:Ppp1r13b
|
UTSW |
12 |
111,801,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7994:Ppp1r13b
|
UTSW |
12 |
111,798,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Ppp1r13b
|
UTSW |
12 |
111,799,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8885:Ppp1r13b
|
UTSW |
12 |
111,799,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8887:Ppp1r13b
|
UTSW |
12 |
111,803,430 (GRCm39) |
unclassified |
probably benign |
|
|
R8900:Ppp1r13b
|
UTSW |
12 |
111,838,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Ppp1r13b
|
UTSW |
12 |
111,796,708 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9147:Ppp1r13b
|
UTSW |
12 |
111,800,268 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9148:Ppp1r13b
|
UTSW |
12 |
111,800,268 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9180:Ppp1r13b
|
UTSW |
12 |
111,811,416 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9483:Ppp1r13b
|
UTSW |
12 |
111,800,210 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9497:Ppp1r13b
|
UTSW |
12 |
111,807,446 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9561:Ppp1r13b
|
UTSW |
12 |
111,810,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Ppp1r13b
|
UTSW |
12 |
111,800,242 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9775:Ppp1r13b
|
UTSW |
12 |
111,803,457 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9784:Ppp1r13b
|
UTSW |
12 |
111,810,119 (GRCm39) |
missense |
probably benign |
|
|
X0010:Ppp1r13b
|
UTSW |
12 |
111,797,893 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation