Incidental Mutation 'PIT4468001:Ppp1r13b'
ID |
555656 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4468001 (G1)
|
Quality Score |
150.008 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
111794891-111874544 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 111805136 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 350
(I350N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054815]
[ENSMUST00000220486]
|
AlphaFold |
Q62415 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054815
AA Change: I350N
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000062464 Gene: ENSMUSG00000021285 AA Change: I350N
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: I192N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.7%
- 10x: 85.2%
- 20x: 72.8%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610042L04Rik |
C |
T |
14: 4,348,940 (GRCm38) |
L34F |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,601,701 (GRCm39) |
|
probably null |
Het |
Arhgap15 |
C |
A |
2: 44,133,143 (GRCm39) |
Q350K |
probably damaging |
Het |
Bbs1 |
T |
A |
19: 4,956,190 (GRCm39) |
H35L |
probably benign |
Het |
Cep85 |
T |
C |
4: 133,876,008 (GRCm39) |
N468S |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,455,338 (GRCm39) |
I1050V |
possibly damaging |
Het |
Chd8 |
A |
C |
14: 52,445,453 (GRCm39) |
D1709E |
probably benign |
Het |
Clec9a |
G |
A |
6: 129,396,597 (GRCm39) |
|
probably null |
Het |
Cyp2c70 |
T |
A |
19: 40,153,806 (GRCm39) |
D261V |
probably damaging |
Het |
Deup1 |
T |
C |
9: 15,475,301 (GRCm39) |
N420D |
possibly damaging |
Het |
Dpys |
T |
A |
15: 39,720,601 (GRCm39) |
D53V |
probably damaging |
Het |
Edem1 |
A |
G |
6: 108,821,828 (GRCm39) |
E295G |
probably damaging |
Het |
Farp2 |
G |
T |
1: 93,456,499 (GRCm39) |
E61* |
probably null |
Het |
Fat3 |
T |
G |
9: 15,907,647 (GRCm39) |
D2785A |
probably benign |
Het |
Fbxo30 |
T |
A |
10: 11,166,700 (GRCm39) |
M474K |
possibly damaging |
Het |
Gm13090 |
C |
A |
4: 151,175,539 (GRCm39) |
P93Q |
unknown |
Het |
Gm21976 |
A |
T |
13: 98,443,535 (GRCm39) |
R229* |
probably null |
Het |
Gpr108 |
A |
T |
17: 57,554,563 (GRCm39) |
L25Q |
probably null |
Het |
Hdac9 |
C |
A |
12: 34,145,933 (GRCm39) |
V920F |
unknown |
Het |
Ighv13-2 |
T |
C |
12: 114,321,593 (GRCm39) |
S49G |
probably benign |
Het |
Krt6a |
T |
C |
15: 101,602,352 (GRCm39) |
Y111C |
probably damaging |
Het |
Mib1 |
T |
C |
18: 10,798,463 (GRCm39) |
S775P |
possibly damaging |
Het |
Mki67 |
A |
G |
7: 135,300,876 (GRCm39) |
I1386T |
probably benign |
Het |
Mroh2b |
A |
G |
15: 4,942,294 (GRCm39) |
E352G |
probably damaging |
Het |
Nfya |
A |
G |
17: 48,702,805 (GRCm39) |
M61T |
unknown |
Het |
Ntn4 |
A |
G |
10: 93,480,587 (GRCm39) |
T104A |
probably damaging |
Het |
Numb |
G |
A |
12: 83,854,921 (GRCm39) |
T135I |
probably damaging |
Het |
Or4b12 |
C |
A |
2: 90,096,564 (GRCm39) |
C70F |
probably benign |
Het |
Or52ab4 |
A |
C |
7: 102,987,807 (GRCm39) |
E182A |
probably damaging |
Het |
Or5m5 |
A |
T |
2: 85,814,792 (GRCm39) |
T203S |
probably benign |
Het |
Parpbp |
A |
C |
10: 87,979,935 (GRCm39) |
L7R |
probably benign |
Het |
Pcdhb8 |
T |
C |
18: 37,489,686 (GRCm39) |
Y455H |
probably damaging |
Het |
Pcdhga10 |
T |
A |
18: 37,880,936 (GRCm39) |
D232E |
probably damaging |
Het |
Pcdhga9 |
T |
A |
18: 37,872,527 (GRCm39) |
C785* |
probably null |
Het |
Pkd1l3 |
A |
G |
8: 110,391,131 (GRCm39) |
Y1913C |
possibly damaging |
Het |
Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
Rc3h2 |
C |
A |
2: 37,289,651 (GRCm39) |
G387V |
probably damaging |
Het |
Rfwd3 |
T |
C |
8: 112,009,352 (GRCm39) |
H408R |
probably benign |
Het |
Rpl3l |
A |
G |
17: 24,954,457 (GRCm39) |
T173A |
probably benign |
Het |
Sdad1 |
T |
C |
5: 92,439,777 (GRCm39) |
D416G |
probably damaging |
Het |
Srp72 |
C |
A |
5: 77,142,053 (GRCm39) |
T430K |
probably benign |
Het |
Steap1 |
C |
A |
5: 5,786,642 (GRCm39) |
G265V |
probably damaging |
Het |
Sulf2 |
A |
T |
2: 165,922,720 (GRCm39) |
I670N |
probably benign |
Het |
Tcf7l2 |
A |
T |
19: 55,730,820 (GRCm39) |
D16V |
probably damaging |
Het |
Tmem100 |
T |
A |
11: 89,926,187 (GRCm39) |
S5T |
probably benign |
Het |
Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
Trak1 |
T |
C |
9: 121,282,398 (GRCm39) |
S436P |
probably benign |
Het |
Ttyh1 |
T |
C |
7: 4,122,771 (GRCm39) |
Y40H |
possibly damaging |
Het |
Ubxn8 |
T |
A |
8: 34,111,569 (GRCm39) |
S275C |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
Upk3b |
C |
T |
5: 136,071,861 (GRCm39) |
T222M |
probably benign |
Het |
Usp42 |
T |
A |
5: 143,700,399 (GRCm39) |
K1208M |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,816,557 (GRCm39) |
D341E |
probably benign |
Het |
Vmn2r83 |
T |
G |
10: 79,313,884 (GRCm39) |
L164R |
probably damaging |
Het |
Vwa8 |
G |
T |
14: 79,420,501 (GRCm39) |
R1734L |
probably damaging |
Het |
Zfand2b |
G |
T |
1: 75,146,476 (GRCm39) |
R117L |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTCACTGTTATCACATCTGGGGAAG -3'
(R):5'- TCTCCATGCTGGCTTTCAGG -3'
Sequencing Primer
(F):5'- TTATCACATCTGGGGAAGAGAGCC -3'
(R):5'- CTGGCTTTCAGGGCGAG -3'
|
Posted On |
2019-06-07 |