Incidental Mutation 'R6074:Ppp1r13b'
| ID |
482658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r13b
|
| Ensembl Gene |
ENSMUSG00000021285 |
| Gene Name |
protein phosphatase 1, regulatory subunit 13B |
| Synonyms |
ASPP1 |
| MMRRC Submission |
044235-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R6074 (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 111798836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 919
(I919T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021714]
[ENSMUST00000054815]
[ENSMUST00000220486]
[ENSMUST00000221375]
[ENSMUST00000222843]
|
| AlphaFold |
Q62415 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021714
|
| SMART Domains |
Protein: ENSMUSP00000021714
Gene: ENSMUSG00000021286
| Domain | Start | End | E-Value | Type |
|---|
|
FYVE
|
36 |
105 |
7.11e-16 |
SMART |
|
Pfam:ZFYVE21_C
|
108 |
233 |
1.1e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054815
AA Change: I919T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: I919T
| 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: I796T
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221375
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223211
|
| Meta Mutation Damage Score |
0.5772 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (61/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo1 |
T |
A |
3: 108,099,009 (GRCm39) |
C189* |
probably null |
Het |
| Auts2 |
G |
T |
5: 131,505,828 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
C |
A |
6: 23,626,670 (GRCm39) |
W177L |
probably damaging |
Het |
| Camk2b |
G |
T |
11: 5,939,635 (GRCm39) |
P223Q |
probably damaging |
Het |
| Ccdc74a |
C |
A |
16: 17,464,591 (GRCm39) |
S9* |
probably null |
Het |
| Ccnt1 |
A |
C |
15: 98,441,205 (GRCm39) |
Y688D |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,801,600 (GRCm39) |
N781S |
probably benign |
Het |
| Ceacam3 |
C |
T |
7: 16,885,484 (GRCm39) |
T29I |
probably benign |
Het |
| Cep170b |
T |
C |
12: 112,710,589 (GRCm39) |
S1473P |
probably damaging |
Het |
| Col19a1 |
T |
A |
1: 24,565,564 (GRCm39) |
T256S |
unknown |
Het |
| Eif2d |
T |
A |
1: 131,094,079 (GRCm39) |
D423E |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,966,723 (GRCm39) |
|
probably null |
Het |
| Gaa |
G |
A |
11: 119,175,012 (GRCm39) |
R871H |
probably benign |
Het |
| Galnt12 |
T |
A |
4: 47,112,405 (GRCm39) |
V37D |
probably damaging |
Het |
| Glp2r |
A |
G |
11: 67,637,640 (GRCm39) |
S13P |
unknown |
Het |
| Gnptab |
C |
T |
10: 88,268,940 (GRCm39) |
L548F |
probably damaging |
Het |
| Heg1 |
C |
T |
16: 33,547,573 (GRCm39) |
P787S |
possibly damaging |
Het |
| Hivep2 |
T |
A |
10: 14,007,485 (GRCm39) |
M1361K |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,954,891 (GRCm39) |
I1069T |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,268,046 (GRCm39) |
D2121G |
probably benign |
Het |
| Htatip2 |
A |
G |
7: 49,422,322 (GRCm39) |
|
probably null |
Het |
| Ighv1-75 |
T |
C |
12: 115,798,007 (GRCm39) |
S4G |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,901,308 (GRCm39) |
|
probably benign |
Het |
| Kcna6 |
A |
G |
6: 126,716,242 (GRCm39) |
S216P |
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,865,095 (GRCm39) |
T526S |
probably benign |
Het |
| Kng2 |
C |
T |
16: 22,819,346 (GRCm39) |
G230D |
probably benign |
Het |
| Lgi2 |
A |
T |
5: 52,703,984 (GRCm39) |
F216I |
probably benign |
Het |
| Lratd1 |
G |
A |
12: 14,200,512 (GRCm39) |
H72Y |
probably benign |
Het |
| Lss |
T |
A |
10: 76,379,693 (GRCm39) |
N383K |
probably damaging |
Het |
| Mical1 |
T |
C |
10: 41,362,061 (GRCm39) |
M929T |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Nat8f4 |
A |
G |
6: 85,878,169 (GRCm39) |
V118A |
probably damaging |
Het |
| Or10j5 |
T |
A |
1: 172,784,945 (GRCm39) |
N194K |
probably benign |
Het |
| Or4p23 |
A |
C |
2: 88,576,566 (GRCm39) |
L222R |
probably damaging |
Het |
| Or6b2 |
G |
A |
1: 92,407,497 (GRCm39) |
T282M |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,030,335 (GRCm39) |
S188T |
probably benign |
Het |
| Pea15a |
C |
T |
1: 172,026,752 (GRCm39) |
R85H |
possibly damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,835,968 (GRCm39) |
D232G |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,415,602 (GRCm39) |
S1837P |
probably benign |
Het |
| Samd5 |
T |
A |
10: 9,550,334 (GRCm39) |
Y125F |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,662,397 (GRCm39) |
T597A |
unknown |
Het |
| Slc25a12 |
A |
G |
2: 71,106,798 (GRCm39) |
F605L |
probably benign |
Het |
| Slc39a12 |
C |
T |
2: 14,412,290 (GRCm39) |
Q321* |
probably null |
Het |
| Slc6a19 |
T |
C |
13: 73,837,882 (GRCm39) |
S206G |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,227,165 (GRCm39) |
H1283Q |
possibly damaging |
Het |
| Thumpd3 |
A |
G |
6: 113,036,971 (GRCm39) |
E290G |
possibly damaging |
Het |
| Timd2 |
C |
T |
11: 46,577,999 (GRCm39) |
G44D |
possibly damaging |
Het |
| Tmem74 |
A |
G |
15: 43,730,134 (GRCm39) |
V303A |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,128,186 (GRCm39) |
V785A |
probably benign |
Het |
| Tpra1 |
T |
A |
6: 88,888,919 (GRCm39) |
I367N |
possibly damaging |
Het |
| Txnrd2 |
T |
C |
16: 18,256,297 (GRCm39) |
I95T |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,885,399 (GRCm39) |
V1216A |
probably benign |
Het |
| Usp54 |
C |
A |
14: 20,602,167 (GRCm39) |
M1394I |
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,322,167 (GRCm39) |
F177L |
probably benign |
Het |
| Vmn2r82 |
T |
A |
10: 79,232,377 (GRCm39) |
V792E |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,805,596 (GRCm39) |
|
probably null |
Het |
| Wnk2 |
A |
T |
13: 49,204,875 (GRCm39) |
C458S |
probably damaging |
Het |
| Xkr6 |
T |
G |
14: 63,844,519 (GRCm39) |
F181V |
possibly damaging |
Het |
| Zfp212 |
T |
A |
6: 47,903,986 (GRCm39) |
C149* |
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp661 |
A |
G |
2: 127,419,793 (GRCm39) |
S116P |
probably benign |
Het |
| Zfp770 |
A |
G |
2: 114,026,870 (GRCm39) |
Y400H |
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 |
|
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 |
|
|
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'- TGGAGCTTGAATCACCTCTTCC -3'
(R):5'- CCTAACTCTGAACGGACAGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation