Incidental Mutation 'R5444:Ppp1r13b'
| ID |
427357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r13b
|
| Ensembl Gene |
ENSMUSG00000021285 |
| Gene Name |
protein phosphatase 1, regulatory subunit 13B |
| Synonyms |
ASPP1 |
| MMRRC Submission |
043009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.864)
|
| Stock # |
R5444 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111794891-111874544 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111805122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 197
(T197S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054815]
[ENSMUST00000220486]
|
| AlphaFold |
Q62415 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054815
AA Change: T355S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: T355S
| 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 benign
Transcript: ENSMUST00000220486
AA Change: T197S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
99% (66/67) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930584F24Rik |
A |
G |
5: 26,684,735 (GRCm39) |
|
noncoding transcript |
Het |
| Adam11 |
A |
G |
11: 102,663,674 (GRCm39) |
Q284R |
probably damaging |
Het |
| Adamts17 |
T |
A |
7: 66,691,647 (GRCm39) |
H610Q |
probably benign |
Het |
| Alg6 |
A |
G |
4: 99,629,816 (GRCm39) |
Y131C |
probably benign |
Het |
| Apol9b |
T |
C |
15: 77,619,963 (GRCm39) |
I253T |
probably damaging |
Het |
| Asb4 |
T |
A |
6: 5,431,040 (GRCm39) |
I425N |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,615,876 (GRCm39) |
L474P |
probably damaging |
Het |
| B3glct |
C |
T |
5: 149,669,985 (GRCm39) |
T318I |
probably damaging |
Het |
| Bbs7 |
T |
C |
3: 36,666,199 (GRCm39) |
K22E |
possibly damaging |
Het |
| Cdk17 |
T |
G |
10: 93,053,823 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
A |
7: 83,631,499 (GRCm39) |
T438S |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,122,833 (GRCm39) |
E967G |
probably damaging |
Het |
| Cyp2d26 |
G |
T |
15: 82,676,739 (GRCm39) |
D202E |
probably benign |
Het |
| Dhdds |
G |
A |
4: 133,698,447 (GRCm39) |
R295* |
probably null |
Het |
| Eef2kmt |
G |
A |
16: 5,066,959 (GRCm39) |
|
probably benign |
Het |
| Fn3krp |
G |
A |
11: 121,312,430 (GRCm39) |
|
probably null |
Het |
| Gjc3 |
G |
A |
5: 137,955,809 (GRCm39) |
L159F |
probably damaging |
Het |
| Gm28434 |
T |
C |
5: 88,127,147 (GRCm39) |
|
probably benign |
Het |
| Gp2 |
G |
A |
7: 119,053,821 (GRCm39) |
P47S |
possibly damaging |
Het |
| Irf7 |
C |
T |
7: 140,844,732 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,201,573 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
A |
T |
1: 15,781,716 (GRCm39) |
I863F |
probably benign |
Het |
| Lamb1 |
T |
C |
12: 31,348,908 (GRCm39) |
F647L |
possibly damaging |
Het |
| Mccc1 |
T |
A |
3: 36,030,891 (GRCm39) |
M392L |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,938,149 (GRCm39) |
|
probably null |
Het |
| Ncstn |
A |
C |
1: 171,900,406 (GRCm39) |
V223G |
possibly damaging |
Het |
| Neurl3 |
G |
T |
1: 36,308,571 (GRCm39) |
F80L |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,334,785 (GRCm39) |
M869T |
possibly damaging |
Het |
| Nfatc2 |
A |
G |
2: 168,376,810 (GRCm39) |
|
probably benign |
Het |
| Nnat |
T |
C |
2: 157,403,137 (GRCm39) |
F26S |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,202,820 (GRCm39) |
Y109C |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,166,124 (GRCm39) |
D194E |
probably damaging |
Het |
| Or10ak11 |
T |
A |
4: 118,687,308 (GRCm39) |
I109L |
probably benign |
Het |
| Or3a4 |
T |
C |
11: 73,944,803 (GRCm39) |
S261G |
probably benign |
Het |
| Or52k2 |
C |
T |
7: 102,254,076 (GRCm39) |
R172* |
probably null |
Het |
| Or5b109 |
A |
T |
19: 13,212,322 (GRCm39) |
Q236L |
probably benign |
Het |
| Or9g3 |
A |
T |
2: 85,590,263 (GRCm39) |
F152L |
probably benign |
Het |
| Ostf1 |
A |
G |
19: 18,558,677 (GRCm39) |
L202S |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,668,806 (GRCm39) |
M747K |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,521 (GRCm39) |
D1019G |
probably benign |
Het |
| Pnlip |
A |
G |
19: 58,661,595 (GRCm39) |
I95V |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,810,370 (GRCm39) |
I357F |
probably damaging |
Het |
| Rbmxl2 |
G |
C |
7: 106,809,044 (GRCm39) |
G110R |
probably damaging |
Het |
| Relch |
C |
T |
1: 105,654,109 (GRCm39) |
T826I |
possibly damaging |
Het |
| Rgs22 |
T |
C |
15: 36,015,773 (GRCm39) |
D1037G |
possibly damaging |
Het |
| Rnf215 |
A |
G |
11: 4,085,843 (GRCm39) |
I107M |
probably benign |
Het |
| Rybp |
A |
T |
6: 100,264,231 (GRCm39) |
M3K |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,379,590 (GRCm39) |
S1081G |
possibly damaging |
Het |
| Slfn10-ps |
C |
T |
11: 82,926,113 (GRCm39) |
|
noncoding transcript |
Het |
| Spag17 |
T |
C |
3: 99,963,468 (GRCm39) |
V1062A |
probably benign |
Het |
| Sult2a1 |
A |
T |
7: 13,569,944 (GRCm39) |
I96K |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
| Thbs3 |
T |
C |
3: 89,130,692 (GRCm39) |
|
probably benign |
Het |
| Tmub2 |
T |
C |
11: 102,179,066 (GRCm39) |
L255S |
possibly damaging |
Het |
| Trank1 |
T |
A |
9: 111,222,026 (GRCm39) |
L2921Q |
probably benign |
Het |
| Trappc14 |
A |
T |
5: 138,259,260 (GRCm39) |
|
probably null |
Het |
| Tuba8 |
A |
T |
6: 121,203,060 (GRCm39) |
|
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,805,451 (GRCm39) |
I469V |
probably benign |
Het |
| Zfp1007 |
A |
T |
5: 109,823,502 (GRCm39) |
Y649* |
probably null |
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 |
|
|
IGL02059:Ppp1r13b
|
APN |
12 |
111,799,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAAAGCACAGTGGAGACC -3'
(R):5'- GTTACAAGCTGAGTGGTTTTCC -3'
Sequencing Primer
(F):5'- CACTGTTATCACATCTGGGGAAG -3'
(R):5'- ACAAGCTGAGTGGTTTTCCTCTTTC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation