Incidental Mutation 'R6253:Ppp1r13b'
| ID |
506347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r13b
|
| Ensembl Gene |
ENSMUSG00000021285 |
| Gene Name |
protein phosphatase 1, regulatory subunit 13B |
| Synonyms |
ASPP1 |
| MMRRC Submission |
044370-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R6253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111794891-111874544 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111802160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 278
(S278P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054815]
[ENSMUST00000220486]
[ENSMUST00000222843]
|
| AlphaFold |
Q62415 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054815
AA Change: S401P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: S401P
| 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: S278P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222843
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,528,929 (GRCm39) |
Y151H |
possibly damaging |
Het |
| Aasdh |
A |
G |
5: 77,034,105 (GRCm39) |
I482T |
possibly damaging |
Het |
| Abca3 |
G |
A |
17: 24,616,526 (GRCm39) |
M989I |
probably benign |
Het |
| Acvr2b |
C |
T |
9: 119,257,627 (GRCm39) |
P220L |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,986,758 (GRCm39) |
D204G |
possibly damaging |
Het |
| Arpp19 |
G |
T |
9: 74,964,016 (GRCm39) |
D123Y |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,983,881 (GRCm39) |
I554T |
probably damaging |
Het |
| Bpifa5 |
A |
G |
2: 154,005,420 (GRCm39) |
M1V |
probably null |
Het |
| Cdh3 |
T |
A |
8: 107,263,695 (GRCm39) |
|
probably null |
Het |
| Cep170 |
A |
T |
1: 176,607,960 (GRCm39) |
D165E |
possibly damaging |
Het |
| Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
A |
G |
14: 75,957,152 (GRCm39) |
L627P |
probably damaging |
Het |
| Col23a1 |
C |
T |
11: 51,464,995 (GRCm39) |
L453F |
probably damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,633,657 (GRCm39) |
Q351L |
probably benign |
Het |
| Ddx4 |
C |
A |
13: 112,772,556 (GRCm39) |
E78* |
probably null |
Het |
| Ddx4 |
T |
G |
13: 112,772,557 (GRCm39) |
K77N |
probably benign |
Het |
| Decr1 |
A |
T |
4: 15,931,179 (GRCm39) |
N92K |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,411,571 (GRCm39) |
L600P |
probably damaging |
Het |
| Ece2 |
A |
C |
16: 20,457,932 (GRCm39) |
N356H |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,317,734 (GRCm39) |
I130N |
possibly damaging |
Het |
| Fat2 |
G |
A |
11: 55,187,097 (GRCm39) |
R1250C |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,005,505 (GRCm39) |
V1968D |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,923,987 (GRCm39) |
K82E |
probably damaging |
Het |
| Gm5431 |
A |
G |
11: 48,785,826 (GRCm39) |
V183A |
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,735,984 (GRCm39) |
S1744P |
possibly damaging |
Het |
| Hnrnpa3 |
C |
G |
2: 75,492,914 (GRCm39) |
Q213E |
possibly damaging |
Het |
| Hspa1a |
A |
G |
17: 35,189,526 (GRCm39) |
F459S |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,751,283 (GRCm39) |
L1601P |
probably damaging |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,323 (GRCm39) |
D102V |
probably damaging |
Het |
| Kansl1 |
G |
A |
11: 104,248,352 (GRCm39) |
T534I |
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,538,264 (GRCm39) |
S303R |
probably damaging |
Het |
| Lrpprc |
T |
A |
17: 85,048,065 (GRCm39) |
I845F |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,749,593 (GRCm39) |
T4259A |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,863,339 (GRCm39) |
S1197G |
probably benign |
Het |
| Mtss1 |
A |
G |
15: 58,815,568 (GRCm39) |
I664T |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,192,793 (GRCm39) |
E1528G |
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,152,319 (GRCm39) |
E69V |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,513,203 (GRCm39) |
D627V |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,528,314 (GRCm39) |
N1053S |
probably benign |
Het |
| Or10a4 |
G |
A |
7: 106,697,464 (GRCm39) |
R264H |
possibly damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,145 (GRCm39) |
S308T |
probably benign |
Het |
| Or6z3 |
T |
C |
7: 6,463,547 (GRCm39) |
V13A |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,248,247 (GRCm39) |
S399T |
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,091,558 (GRCm39) |
Y84F |
probably damaging |
Het |
| Prol1 |
A |
G |
5: 88,475,736 (GRCm39) |
Y42C |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,798,205 (GRCm39) |
E906G |
probably damaging |
Het |
| Pwwp3a |
T |
A |
10: 80,068,848 (GRCm39) |
C331S |
probably benign |
Het |
| Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
| Rbp4 |
G |
A |
19: 38,113,428 (GRCm39) |
T30M |
probably benign |
Het |
| Selenbp1 |
T |
C |
3: 94,851,157 (GRCm39) |
L351P |
possibly damaging |
Het |
| Serpinb6b |
T |
C |
13: 33,156,255 (GRCm39) |
F115S |
probably damaging |
Het |
| Tigd3 |
A |
T |
19: 5,942,870 (GRCm39) |
Y87N |
probably damaging |
Het |
| Tigd5 |
T |
A |
15: 75,782,871 (GRCm39) |
L411H |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,258,272 (GRCm39) |
|
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,027,449 (GRCm39) |
Q416R |
probably damaging |
Het |
| Zfand4 |
T |
C |
6: 116,250,575 (GRCm39) |
F2L |
probably damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,682,020 (GRCm39) |
T3153M |
possibly damaging |
Het |
| Zfp697 |
T |
G |
3: 98,334,855 (GRCm39) |
C207G |
possibly damaging |
Het |
| Zfp935 |
T |
C |
13: 62,602,685 (GRCm39) |
T172A |
probably benign |
Het |
| Znrf3 |
G |
T |
11: 5,230,865 (GRCm39) |
L883I |
probably benign |
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 |
|
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 |
|
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'- TCAGGGTATAAAGTGGACACCAAC -3'
(R):5'- GCTTCAAGCAAGGTCTGTGG -3'
Sequencing Primer
(F):5'- GTGGACACCAACAGGACTAATTTGC -3'
(R):5'- CAAGCAAGGTCTGTGGGCTTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation