Incidental Mutation 'IGL02385:Ppp1r13b'
| ID |
291519 |
| 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 # |
IGL02385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
111794891-111874544 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 111801477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 402
(S402R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054815]
[ENSMUST00000220486]
[ENSMUST00000222843]
|
| AlphaFold |
Q62415 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054815
AA Change: S525R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: S525R
| 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: S402R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,201,630 (GRCm39) |
D351E |
probably damaging |
Het |
| Adad2 |
A |
G |
8: 120,341,773 (GRCm39) |
|
probably benign |
Het |
| Adamts8 |
A |
G |
9: 30,873,026 (GRCm39) |
N744D |
probably benign |
Het |
| Atad5 |
C |
T |
11: 79,985,453 (GRCm39) |
T180I |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,116,594 (GRCm39) |
I700K |
probably benign |
Het |
| Bcr |
T |
C |
10: 74,981,235 (GRCm39) |
S685P |
probably damaging |
Het |
| Cd36 |
A |
G |
5: 18,019,717 (GRCm39) |
V128A |
probably benign |
Het |
| Cfap20dc |
A |
G |
14: 8,510,920 (GRCm38) |
V498A |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,085,570 (GRCm39) |
Y1688C |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 15,953,275 (GRCm39) |
V3402A |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,660,771 (GRCm39) |
V370A |
probably damaging |
Het |
| Dus4l |
A |
G |
12: 31,690,674 (GRCm39) |
|
probably benign |
Het |
| Fcrlb |
A |
G |
1: 170,735,168 (GRCm39) |
S320P |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,887,348 (GRCm39) |
D616G |
probably benign |
Het |
| Fxr2 |
C |
T |
11: 69,543,095 (GRCm39) |
R631C |
possibly damaging |
Het |
| Gltpd2 |
T |
A |
11: 70,410,822 (GRCm39) |
F152I |
probably damaging |
Het |
| Gpt2 |
T |
A |
8: 86,242,782 (GRCm39) |
|
probably null |
Het |
| Hsd3b6 |
A |
T |
3: 98,713,888 (GRCm39) |
I137K |
possibly damaging |
Het |
| Kcna6 |
A |
G |
6: 126,715,917 (GRCm39) |
V324A |
probably benign |
Het |
| Kcnu1 |
C |
T |
8: 26,422,298 (GRCm39) |
L188F |
probably damaging |
Het |
| Kdm1b |
A |
G |
13: 47,221,982 (GRCm39) |
I474V |
possibly damaging |
Het |
| Kifap3 |
C |
T |
1: 163,693,013 (GRCm39) |
Q602* |
probably null |
Het |
| Lrp4 |
T |
A |
2: 91,305,065 (GRCm39) |
C231S |
possibly damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,323,640 (GRCm39) |
D528G |
probably benign |
Het |
| Nosip |
C |
A |
7: 44,726,156 (GRCm39) |
R240S |
possibly damaging |
Het |
| Or11g26 |
T |
C |
14: 50,752,900 (GRCm39) |
S80P |
probably damaging |
Het |
| Or4f57 |
G |
A |
2: 111,790,603 (GRCm39) |
P272S |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,279,695 (GRCm39) |
D70G |
probably damaging |
Het |
| Orc5 |
A |
T |
5: 22,731,438 (GRCm39) |
D231E |
probably damaging |
Het |
| Poli |
A |
T |
18: 70,659,645 (GRCm39) |
M62K |
possibly damaging |
Het |
| Prl3b1 |
T |
C |
13: 27,433,366 (GRCm39) |
S174P |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 130,382,393 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
T |
A |
4: 126,919,929 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
T |
A |
15: 78,790,088 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
T |
G |
8: 41,352,048 (GRCm39) |
V37G |
probably damaging |
Het |
| Smc1a |
A |
T |
X: 150,820,655 (GRCm39) |
E794D |
possibly damaging |
Het |
| Sox6 |
T |
C |
7: 115,149,274 (GRCm39) |
R366G |
possibly damaging |
Het |
| Spaca7 |
A |
G |
8: 12,636,498 (GRCm39) |
N108S |
possibly damaging |
Het |
| Spon1 |
T |
G |
7: 113,365,567 (GRCm39) |
M1R |
probably null |
Het |
| Sult6b2 |
T |
C |
6: 142,747,498 (GRCm39) |
R84G |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,673,553 (GRCm39) |
N299S |
probably benign |
Het |
| Syvn1 |
T |
C |
19: 6,098,570 (GRCm39) |
V104A |
probably damaging |
Het |
| Tbpl1 |
A |
G |
10: 22,583,568 (GRCm39) |
L134P |
probably damaging |
Het |
| Tex11 |
A |
T |
X: 99,920,135 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,350,942 (GRCm39) |
S369G |
probably damaging |
Het |
| Tram1l1 |
T |
C |
3: 124,115,707 (GRCm39) |
V289A |
probably benign |
Het |
| Ttyh3 |
A |
T |
5: 140,619,060 (GRCm39) |
F277L |
probably benign |
Het |
| Vmn2r17 |
T |
G |
5: 109,582,247 (GRCm39) |
N545K |
probably damaging |
Het |
| Wdr20 |
A |
T |
12: 110,759,657 (GRCm39) |
H181L |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,498,392 (GRCm39) |
M2T |
possibly 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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation