Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01677:Ppp1r13b'

103665

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) question?

Stock #

IGL01677

Quality Score

Status

Chromosome

Chromosomal Location

111794891-111874544 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111810099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 78 (D78E)

Ref Sequence

ENSEMBL: ENSMUSP00000152424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054815] [ENSMUST00000220486]

AlphaFold

Q62415

Predicted Effect

probably benign
Transcript: ENSMUST00000054815
AA Change: D236E

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: D236E

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 benign
Transcript: ENSMUST00000220486
AA Change: D78E

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 38,129,700 (GRCm39)	M154L	probably benign	Het
Asph	T	C	4: 9,607,853 (GRCm39)	D131G	probably damaging	Het
Cdc45	G	A	16: 18,605,750 (GRCm39)	T429I	probably benign	Het
Cnga3	C	T	1: 37,283,999 (GRCm39)	R101*	probably null	Het
Cp	T	C	3: 20,020,598 (GRCm39)	I197T	probably damaging	Het
Cyp4b1	T	C	4: 115,493,479 (GRCm39)	D77G	probably damaging	Het
Dnah5	G	T	15: 28,367,928 (GRCm39)	W2771L	probably damaging	Het
Fas	G	A	19: 34,296,218 (GRCm39)	V177I	probably benign	Het
Gde1	A	G	7: 118,293,710 (GRCm39)		probably benign	Het
Hyou1	T	C	9: 44,293,309 (GRCm39)	S223P	probably benign	Het
Klre1	G	T	6: 129,559,006 (GRCm39)	G75C	probably damaging	Het
Lama1	T	C	17: 68,086,143 (GRCm39)	C1461R	probably benign	Het
Map3k7	T	C	4: 32,017,158 (GRCm39)		probably benign	Het
Mrpl18	A	T	17: 13,130,575 (GRCm39)	I178N	probably damaging	Het
Nckap1	T	C	2: 80,360,641 (GRCm39)	T503A	probably benign	Het
Or2n1	T	C	17: 38,486,766 (GRCm39)	S264P	probably damaging	Het
Or52n5	T	C	7: 104,587,852 (GRCm39)	S40P	probably benign	Het
Or52u1	T	C	7: 104,237,352 (GRCm39)	S114P	probably damaging	Het
Or7g28	T	C	9: 19,272,441 (GRCm39)	D70G	probably damaging	Het
Orc1	C	T	4: 108,461,782 (GRCm39)	T593I	probably damaging	Het
Phtf1	T	A	3: 103,906,099 (GRCm39)	S594T	probably damaging	Het
Proz	T	C	8: 13,115,238 (GRCm39)		probably benign	Het
Rtcb	C	A	10: 85,779,793 (GRCm39)	Q292H	probably damaging	Het
Septin11	A	T	5: 93,296,392 (GRCm39)	T95S	probably damaging	Het
Slc12a1	A	G	2: 125,020,069 (GRCm39)		probably benign	Het
Slc45a3	T	A	1: 131,906,708 (GRCm39)	I394N	probably damaging	Het
Slc8a1	T	C	17: 81,956,036 (GRCm39)	H334R	probably damaging	Het
Sort1	T	C	3: 108,252,201 (GRCm39)	I466T	probably benign	Het
Susd2	A	T	10: 75,475,265 (GRCm39)	V515E	possibly damaging	Het
Ttll3	A	G	6: 113,389,945 (GRCm39)	R778G	probably benign	Het
Ubfd1	T	A	7: 121,670,922 (GRCm39)		probably benign	Het
Utrn	G	A	10: 12,619,901 (GRCm39)	T248M	probably damaging	Het
Vmn2r11	T	G	5: 109,201,823 (GRCm39)	D227A	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
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

2014-01-21