Incidental Mutation 'IGL01621:Ppp1r13b'
ID |
92609 |
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 # |
IGL01621
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
111794891-111874544 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111801526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 386
(Q386L)
|
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: Q509L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000062464 Gene: ENSMUSG00000021285 AA Change: Q509L
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 |
possibly damaging
Transcript: ENSMUST00000220486
AA Change: Q386L
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
C |
T |
5: 64,055,726 (GRCm39) |
T154I |
possibly damaging |
Het |
4933434E20Rik |
T |
A |
3: 89,971,809 (GRCm39) |
M56K |
possibly damaging |
Het |
Abca6 |
A |
G |
11: 110,075,534 (GRCm39) |
L1319S |
probably damaging |
Het |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Aloxe3 |
A |
G |
11: 69,020,839 (GRCm39) |
N188S |
probably benign |
Het |
Ap1s1 |
G |
A |
5: 137,070,658 (GRCm39) |
R119* |
probably null |
Het |
Apc2 |
T |
G |
10: 80,142,035 (GRCm39) |
L318R |
probably damaging |
Het |
Atg101 |
A |
G |
15: 101,184,976 (GRCm39) |
S33G |
possibly damaging |
Het |
Atp8a2 |
A |
T |
14: 60,253,317 (GRCm39) |
|
probably benign |
Het |
Bpifb9b |
C |
A |
2: 154,158,871 (GRCm39) |
|
probably null |
Het |
Braf |
A |
T |
6: 39,623,787 (GRCm39) |
|
probably benign |
Het |
Cabp5 |
A |
G |
7: 13,135,189 (GRCm39) |
D43G |
probably damaging |
Het |
Cfap46 |
T |
C |
7: 139,186,523 (GRCm39) |
N2462S |
unknown |
Het |
Cit |
C |
T |
5: 116,130,662 (GRCm39) |
|
probably benign |
Het |
Cpa4 |
T |
C |
6: 30,574,415 (GRCm39) |
V68A |
probably damaging |
Het |
Cyp2j5 |
T |
C |
4: 96,517,791 (GRCm39) |
I474V |
probably benign |
Het |
Dennd1a |
C |
A |
2: 37,734,821 (GRCm39) |
D49Y |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,198,289 (GRCm39) |
D1525G |
probably damaging |
Het |
Dnajc18 |
C |
T |
18: 35,813,893 (GRCm39) |
R292H |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,140,897 (GRCm39) |
|
probably null |
Het |
E2f6 |
A |
G |
12: 16,875,369 (GRCm39) |
D268G |
probably benign |
Het |
Evi2b |
T |
A |
11: 79,407,126 (GRCm39) |
T150S |
probably damaging |
Het |
F13b |
A |
G |
1: 139,431,589 (GRCm39) |
D53G |
probably benign |
Het |
Fbxo38 |
G |
A |
18: 62,655,595 (GRCm39) |
|
probably benign |
Het |
Flnb |
C |
T |
14: 7,950,470 (GRCm38) |
P2596L |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,656,247 (GRCm39) |
|
probably benign |
Het |
Gm21759 |
A |
G |
5: 8,229,775 (GRCm39) |
|
probably benign |
Het |
Gtse1 |
A |
G |
15: 85,759,283 (GRCm39) |
N597S |
probably benign |
Het |
Hcn3 |
G |
T |
3: 89,055,030 (GRCm39) |
S739Y |
probably damaging |
Het |
Ighv9-4 |
T |
A |
12: 114,263,612 (GRCm39) |
N107I |
probably damaging |
Het |
Inava |
C |
A |
1: 136,147,513 (GRCm39) |
A402S |
probably damaging |
Het |
Iqub |
T |
C |
6: 24,446,211 (GRCm39) |
K738E |
probably benign |
Het |
Itga6 |
A |
T |
2: 71,656,000 (GRCm39) |
D308V |
probably benign |
Het |
Klf12 |
T |
C |
14: 100,260,585 (GRCm39) |
Y48C |
probably damaging |
Het |
Klhdc9 |
A |
G |
1: 171,186,384 (GRCm39) |
*351Q |
probably null |
Het |
Krt40 |
A |
T |
11: 99,433,694 (GRCm39) |
N97K |
probably damaging |
Het |
Lrit1 |
A |
C |
14: 36,782,112 (GRCm39) |
T262P |
probably damaging |
Het |
Mcoln1 |
T |
C |
8: 3,560,910 (GRCm39) |
Y411H |
probably damaging |
Het |
Mfsd4a |
A |
G |
1: 131,981,881 (GRCm39) |
S149P |
probably benign |
Het |
Minar2 |
A |
G |
18: 59,195,458 (GRCm39) |
M1V |
probably null |
Het |
Mipep |
A |
G |
14: 61,033,614 (GRCm39) |
|
probably benign |
Het |
Mslnl |
A |
G |
17: 25,962,641 (GRCm39) |
|
probably benign |
Het |
N4bp2 |
A |
T |
5: 65,948,267 (GRCm39) |
H299L |
probably damaging |
Het |
Nbn |
C |
T |
4: 15,965,221 (GRCm39) |
P190S |
probably benign |
Het |
Nos1 |
T |
A |
5: 118,083,949 (GRCm39) |
I1253N |
probably damaging |
Het |
Nup210 |
G |
T |
6: 91,007,099 (GRCm39) |
F572L |
probably damaging |
Het |
Or10k2 |
T |
C |
8: 84,268,247 (GRCm39) |
V158A |
probably benign |
Het |
Or1e30 |
T |
C |
11: 73,678,103 (GRCm39) |
F113S |
probably damaging |
Het |
Or2y11 |
T |
C |
11: 49,442,964 (GRCm39) |
L130P |
probably damaging |
Het |
P4htm |
T |
A |
9: 108,460,935 (GRCm39) |
E106V |
probably damaging |
Het |
Pcdhb20 |
C |
T |
18: 37,637,860 (GRCm39) |
H129Y |
possibly damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,514,490 (GRCm39) |
E240G |
probably benign |
Het |
Pex5l |
T |
C |
3: 33,069,110 (GRCm39) |
|
probably null |
Het |
Plcd1 |
T |
C |
9: 118,905,246 (GRCm39) |
N181S |
probably damaging |
Het |
Plekhg6 |
G |
T |
6: 125,349,062 (GRCm39) |
L412M |
probably damaging |
Het |
Pramel25 |
T |
C |
4: 143,520,502 (GRCm39) |
F85L |
probably benign |
Het |
Prpf40b |
A |
G |
15: 99,207,926 (GRCm39) |
|
probably benign |
Het |
Rdh11 |
C |
T |
12: 79,233,187 (GRCm39) |
|
probably null |
Het |
Ripor3 |
A |
T |
2: 167,839,172 (GRCm39) |
S110T |
probably damaging |
Het |
Sec24d |
G |
A |
3: 123,087,807 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
T |
C |
2: 125,615,131 (GRCm39) |
S165G |
probably benign |
Het |
Shank1 |
C |
T |
7: 43,991,889 (GRCm39) |
A698V |
unknown |
Het |
Shank1 |
T |
C |
7: 44,001,023 (GRCm39) |
M914T |
unknown |
Het |
Slc22a3 |
T |
C |
17: 12,677,379 (GRCm39) |
Q263R |
probably benign |
Het |
Smc1a |
C |
A |
X: 150,819,125 (GRCm39) |
Q647K |
probably damaging |
Het |
Sohlh1 |
A |
G |
2: 25,736,873 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
C |
A |
7: 130,331,498 (GRCm39) |
T484K |
probably damaging |
Het |
Ubr4 |
G |
T |
4: 139,168,094 (GRCm39) |
E2825* |
probably null |
Het |
Wbp2nl |
G |
A |
15: 82,192,806 (GRCm39) |
M163I |
probably benign |
Het |
Zfp69 |
T |
A |
4: 120,788,697 (GRCm39) |
K206M |
probably damaging |
Het |
Zswim3 |
G |
A |
2: 164,663,440 (GRCm39) |
R640H |
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 |
|
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 |
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 |
2013-12-09 |