Incidental Mutation 'R7284:Ppp1r13b'
| ID |
565896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r13b
|
| Ensembl Gene |
ENSMUSG00000021285 |
| Gene Name |
protein phosphatase 1, regulatory subunit 13B |
| Synonyms |
ASPP1 |
| MMRRC Submission |
045392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R7284 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111794891-111874544 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111801400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 551
(I551T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054815]
[ENSMUST00000220486]
[ENSMUST00000222843]
|
| AlphaFold |
Q62415 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054815
AA Change: I551T
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: I551T
| 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: I428T
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222843
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
99% (77/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
T |
7: 12,246,605 (GRCm39) |
E34* |
probably null |
Het |
| 4933421I07Rik |
C |
T |
7: 42,097,404 (GRCm39) |
R30H |
probably damaging |
Het |
| AB124611 |
C |
A |
9: 21,450,400 (GRCm39) |
Q158K |
probably benign |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,628,643 (GRCm39) |
L367Q |
probably damaging |
Het |
| Aftph |
T |
C |
11: 20,676,812 (GRCm39) |
K266E |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,006,246 (GRCm39) |
D190E |
probably damaging |
Het |
| Angel1 |
G |
T |
12: 86,767,298 (GRCm39) |
D359E |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,846,184 (GRCm39) |
I474T |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,398,008 (GRCm39) |
|
probably null |
Het |
| Best1 |
T |
C |
19: 9,963,737 (GRCm39) |
|
probably null |
Het |
| Bhlha9 |
A |
G |
11: 76,563,492 (GRCm39) |
S40G |
probably benign |
Het |
| Cabin1 |
G |
A |
10: 75,530,668 (GRCm39) |
R178C |
|
Het |
| Ccnb1ip1 |
A |
G |
14: 51,029,736 (GRCm39) |
Y109H |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,381,715 (GRCm39) |
S1763P |
probably damaging |
Het |
| Dars1 |
T |
C |
1: 128,300,004 (GRCm39) |
T327A |
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,645,648 (GRCm39) |
Y889H |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,932,908 (GRCm39) |
Y523* |
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,909,662 (GRCm39) |
D4484V |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,881,302 (GRCm39) |
M2591K |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,180,672 (GRCm39) |
E1715G |
probably benign |
Het |
| Dym |
A |
G |
18: 75,252,242 (GRCm39) |
Y336C |
possibly damaging |
Het |
| Ezh2 |
A |
G |
6: 47,521,453 (GRCm39) |
M439T |
probably benign |
Het |
| Folr1 |
T |
G |
7: 101,508,677 (GRCm39) |
N83H |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,889,904 (GRCm39) |
L656P |
probably damaging |
Het |
| Gmnc |
T |
C |
16: 26,779,542 (GRCm39) |
H161R |
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,472,017 (GRCm39) |
Y491H |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,883,402 (GRCm39) |
C412S |
possibly damaging |
Het |
| Hmgcr |
A |
C |
13: 96,789,173 (GRCm39) |
V716G |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,324,479 (GRCm39) |
D799G |
probably damaging |
Het |
| Ikbkb |
T |
C |
8: 23,158,976 (GRCm39) |
T501A |
probably benign |
Het |
| Kbtbd3 |
C |
T |
9: 4,330,690 (GRCm39) |
R355* |
probably null |
Het |
| Kcna7 |
T |
A |
7: 45,058,652 (GRCm39) |
I313N |
probably damaging |
Het |
| Kirrel1 |
A |
C |
3: 86,990,694 (GRCm39) |
D709E |
probably benign |
Het |
| Klb |
T |
A |
5: 65,540,821 (GRCm39) |
S971R |
probably benign |
Het |
| Krtap4-13 |
A |
T |
11: 99,700,238 (GRCm39) |
C140* |
probably null |
Het |
| Lacc1 |
A |
T |
14: 77,268,309 (GRCm39) |
L334Q |
probably damaging |
Het |
| Map6d1 |
T |
A |
16: 20,059,775 (GRCm39) |
R97* |
probably null |
Het |
| Mgat5b |
T |
C |
11: 116,835,746 (GRCm39) |
S129P |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Myh9 |
G |
A |
15: 77,671,796 (GRCm39) |
R432C |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,144,902 (GRCm39) |
T236A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,148,804 (GRCm39) |
D2581G |
probably damaging |
Het |
| Nid1 |
T |
A |
13: 13,663,675 (GRCm39) |
M778K |
probably benign |
Het |
| Npas2 |
A |
G |
1: 39,363,548 (GRCm39) |
D209G |
probably benign |
Het |
| Nploc4 |
C |
T |
11: 120,307,196 (GRCm39) |
V181I |
possibly damaging |
Het |
| Nrcam |
A |
T |
12: 44,610,817 (GRCm39) |
I506F |
probably damaging |
Het |
| Or52w1 |
T |
A |
7: 105,017,752 (GRCm39) |
M73K |
probably damaging |
Het |
| Or5h27 |
A |
G |
16: 59,006,331 (GRCm39) |
*172Q |
probably null |
Het |
| Or6c3b |
T |
C |
10: 129,527,220 (GRCm39) |
N230S |
probably benign |
Het |
| Pask |
T |
A |
1: 93,248,391 (GRCm39) |
Q970L |
probably benign |
Het |
| Pfkfb4 |
T |
C |
9: 108,840,308 (GRCm39) |
I308T |
possibly damaging |
Het |
| Pla2g4d |
A |
T |
2: 120,114,617 (GRCm39) |
L38Q |
probably damaging |
Het |
| Pld1 |
A |
G |
3: 28,185,882 (GRCm39) |
T1036A |
possibly damaging |
Het |
| Pom121l2 |
A |
G |
13: 22,166,775 (GRCm39) |
T349A |
probably damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,317 (GRCm39) |
N144S |
possibly damaging |
Het |
| Prss56 |
A |
G |
1: 87,113,123 (GRCm39) |
N179S |
probably null |
Het |
| Prune2 |
T |
C |
19: 17,097,250 (GRCm39) |
L918P |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,000,097 (GRCm39) |
T729I |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,662,308 (GRCm39) |
H942Q |
probably benign |
Het |
| Rrp7a |
T |
C |
15: 83,006,071 (GRCm39) |
T60A |
probably damaging |
Het |
| Snx27 |
A |
G |
3: 94,431,498 (GRCm39) |
Y299H |
probably damaging |
Het |
| Spaca3 |
G |
T |
11: 80,754,847 (GRCm39) |
R96L |
possibly damaging |
Het |
| Stat1 |
A |
G |
1: 52,188,081 (GRCm39) |
N495S |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,607,270 (GRCm39) |
N175S |
probably benign |
Het |
| Tcaf2 |
A |
G |
6: 42,606,472 (GRCm39) |
L494P |
probably damaging |
Het |
| Tdrd12 |
C |
A |
7: 35,179,561 (GRCm39) |
|
probably null |
Het |
| Thbs1 |
A |
G |
2: 117,949,837 (GRCm39) |
N604S |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,055,454 (GRCm39) |
F1482L |
probably benign |
Het |
| Trhr2 |
A |
T |
8: 123,087,114 (GRCm39) |
S109T |
probably damaging |
Het |
| Trpc3 |
A |
T |
3: 36,678,562 (GRCm39) |
M841K |
probably damaging |
Het |
| Tubgcp5 |
C |
T |
7: 55,473,315 (GRCm39) |
R798C |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,347,173 (GRCm39) |
M3138K |
probably benign |
Het |
| Zdhhc4 |
G |
A |
5: 143,307,646 (GRCm39) |
T125I |
probably benign |
Het |
| Zfp239 |
T |
A |
6: 117,848,716 (GRCm39) |
C151* |
probably null |
Het |
| Zfp473 |
C |
T |
7: 44,382,627 (GRCm39) |
E569K |
not run |
Het |
| Zzef1 |
T |
A |
11: 72,777,516 (GRCm39) |
D1782E |
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 |
|
|
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 |
|
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'- TTTCGGACAGAGTATATAGCCAG -3'
(R):5'- AGAAGGAAGCTTGCCCAGAC -3'
Sequencing Primer
(F):5'- GACAGAGTATATAGCCAGCATACCTG -3'
(R):5'- TGCAGGCCCACCGAGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation