Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01621:Ppp1r13b'

92609

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp1r13b

Ensembl Gene

ENSMUSG00000021285

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 13B

Synonyms

ASPP1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.810) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

111828457-111908110 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111835092 bp (GRCm38)

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: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably damaging	Het

Other mutations in Ppp1r13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Ppp1r13b	APN	12	111829370	missense	probably damaging	0.99
IGL01102:Ppp1r13b	APN	12	111833219	missense	probably benign
IGL01677:Ppp1r13b	APN	12	111843665	missense	probably benign	0.18
IGL01720:Ppp1r13b	APN	12	111858260	missense	probably benign	0.05
IGL01921:Ppp1r13b	APN	12	111833237	missense	probably benign
IGL02059:Ppp1r13b	APN	12	111833347	missense	probably damaging	1.00
IGL02187:Ppp1r13b	APN	12	111835038	missense	probably damaging	0.99
IGL02262:Ppp1r13b	APN	12	111835211	missense	possibly damaging	0.88
IGL02385:Ppp1r13b	APN	12	111835043	missense	probably damaging	1.00
IGL02894:Ppp1r13b	APN	12	111831454	unclassified	probably benign
IGL03027:Ppp1r13b	APN	12	111830396	nonsense	probably null
IGL03049:Ppp1r13b	APN	12	111833229	missense	probably benign	0.29
PIT4468001:Ppp1r13b	UTSW	12	111838702	missense	probably benign	0.08
PIT4472001:Ppp1r13b	UTSW	12	111832640	missense	probably damaging	1.00
R0393:Ppp1r13b	UTSW	12	111835688	missense	probably benign	0.01
R0561:Ppp1r13b	UTSW	12	111866446	missense	probably damaging	1.00
R1067:Ppp1r13b	UTSW	12	111835116	missense	probably damaging	1.00
R1208:Ppp1r13b	UTSW	12	111844905	missense	probably damaging	1.00
R1208:Ppp1r13b	UTSW	12	111844905	missense	probably damaging	1.00
R1512:Ppp1r13b	UTSW	12	111872408	missense	possibly damaging	0.84
R1563:Ppp1r13b	UTSW	12	111840982	missense	probably damaging	1.00
R1918:Ppp1r13b	UTSW	12	111834810	missense	probably damaging	1.00
R2014:Ppp1r13b	UTSW	12	111833788	missense	probably benign
R2134:Ppp1r13b	UTSW	12	111833733	missense	probably benign	0.00
R2306:Ppp1r13b	UTSW	12	111844893	missense	probably damaging	1.00
R3508:Ppp1r13b	UTSW	12	111872367	missense	probably damaging	1.00
R3767:Ppp1r13b	UTSW	12	111846417	missense	probably damaging	0.99
R4237:Ppp1r13b	UTSW	12	111838736	missense	probably benign
R4278:Ppp1r13b	UTSW	12	111830384	missense	probably damaging	0.96
R4690:Ppp1r13b	UTSW	12	111832558	missense	probably damaging	1.00
R4702:Ppp1r13b	UTSW	12	111833281	missense	probably benign	0.00
R5094:Ppp1r13b	UTSW	12	111843610	missense	probably benign	0.00
R5250:Ppp1r13b	UTSW	12	111844960	missense	probably benign	0.20
R5444:Ppp1r13b	UTSW	12	111838688	missense	probably benign
R5607:Ppp1r13b	UTSW	12	111833789	missense	probably benign	0.44
R5874:Ppp1r13b	UTSW	12	111844989	missense	probably damaging	1.00
R5935:Ppp1r13b	UTSW	12	111830442	missense	probably benign
R6074:Ppp1r13b	UTSW	12	111832402	missense	probably damaging	1.00
R6253:Ppp1r13b	UTSW	12	111835726	missense	probably benign
R6511:Ppp1r13b	UTSW	12	111831567	missense	probably damaging	1.00
R6836:Ppp1r13b	UTSW	12	111835195	missense	probably benign	0.16
R6968:Ppp1r13b	UTSW	12	111833178	missense	possibly damaging	0.76
R7269:Ppp1r13b	UTSW	12	111834919	missense	probably damaging	0.99
R7284:Ppp1r13b	UTSW	12	111834966	missense	possibly damaging	0.82
R7304:Ppp1r13b	UTSW	12	111872406	missense	possibly damaging	0.49
R7314:Ppp1r13b	UTSW	12	111846356	missense	probably damaging	1.00
R7393:Ppp1r13b	UTSW	12	111838754	missense	probably damaging	1.00
R7639:Ppp1r13b	UTSW	12	111833615	missense	probably damaging	1.00
R7873:Ppp1r13b	UTSW	12	111834886	missense	probably damaging	1.00
R7994:Ppp1r13b	UTSW	12	111832342	missense	probably damaging	1.00
R8828:Ppp1r13b	UTSW	12	111833547	missense	probably damaging	0.99
R8885:Ppp1r13b	UTSW	12	111833437	missense	probably damaging	0.99
R8887:Ppp1r13b	UTSW	12	111836996	unclassified	probably benign
R8900:Ppp1r13b	UTSW	12	111872344	missense	probably damaging	1.00
R9005:Ppp1r13b	UTSW	12	111830274	missense	probably benign	0.26
R9147:Ppp1r13b	UTSW	12	111833834	missense	probably benign	0.13
R9148:Ppp1r13b	UTSW	12	111833834	missense	probably benign	0.13
R9180:Ppp1r13b	UTSW	12	111844982	missense	probably benign	0.34
X0010:Ppp1r13b	UTSW	12	111831459	critical splice donor site	probably null

Posted On

2013-12-09