Mutagenetix > Incidental Mutation

Incidental Mutation 'R0507:Ppp1r13l'

47658

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r13l

Ensembl Gene

ENSMUSG00000040734

Gene Name

protein phosphatase 1, regulatory subunit 13 like

Synonyms

NFkB interacting protein 1, IASPP, wa3

MMRRC Submission

038702-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.669) question?

Stock #

R0507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19093674-19112458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19109739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 720 (L720P)

Ref Sequence

ENSEMBL: ENSMUSP00000047839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047621]

AlphaFold

Q5I1X5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047621
AA Change: L720P

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000047839
Gene: ENSMUSG00000040734
AA Change: L720P

Domain	Start	End	E-Value	Type
coiled coil region	25	49	N/A	INTRINSIC
low complexity region	349	370	N/A	INTRINSIC
low complexity region	401	440	N/A	INTRINSIC
low complexity region	453	472	N/A	INTRINSIC
low complexity region	551	561	N/A	INTRINSIC
low complexity region	575	600	N/A	INTRINSIC
low complexity region	616	632	N/A	INTRINSIC
ANK	655	684	2.25e-3	SMART
ANK	688	717	1.31e-4	SMART
SH3	757	815	4.66e-17	SMART

Meta Mutation Damage Score

0.1785

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for spontaneous mutations in this gene exhibit cardiovascular defects leading to cardiomyopathy, open eyelids at birth, and coat abnormalities. One allele also shows postnatal lethality dependent on strain background and decreased weight, while another shows impaired fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,838,655 (GRCm39)		probably benign	Het
Adamts16	T	C	13: 70,916,766 (GRCm39)	D742G	probably benign	Het
Akap9	G	A	5: 4,119,043 (GRCm39)	E3517K	probably benign	Het
Arfgef3	T	C	10: 18,467,369 (GRCm39)	T1944A	probably damaging	Het
Bsx	A	G	9: 40,787,796 (GRCm39)		probably benign	Het
Cct2	A	T	10: 116,891,151 (GRCm39)		probably null	Het
Cdkl4	T	C	17: 80,851,237 (GRCm39)	D155G	probably benign	Het
Cep250	C	T	2: 155,834,452 (GRCm39)	R2126C	possibly damaging	Het
Cep97	A	T	16: 55,726,245 (GRCm39)		probably benign	Het
Cpne3	C	T	4: 19,532,544 (GRCm39)		probably benign	Het
Csmd1	T	C	8: 16,235,358 (GRCm39)		probably benign	Het
Cx3cr1	C	A	9: 119,881,022 (GRCm39)	D127Y	probably damaging	Het
Dcdc2a	A	G	13: 25,286,572 (GRCm39)	Q165R	probably damaging	Het
Ddx17	A	G	15: 79,421,758 (GRCm39)		probably benign	Het
Dicer1	A	G	12: 104,657,917 (GRCm39)	S1886P	probably damaging	Het
Egf	T	C	3: 129,474,828 (GRCm39)	D571G	possibly damaging	Het
Fyb1	A	G	15: 6,664,297 (GRCm39)	D460G	probably benign	Het
Gbp2	G	T	3: 142,335,794 (GRCm39)	D165Y	probably damaging	Het
Gm14412	A	T	2: 177,006,325 (GRCm39)	N523K	possibly damaging	Het
Gsap	C	T	5: 21,474,961 (GRCm39)	T540I	possibly damaging	Het
Gucy2d	C	A	7: 98,108,209 (GRCm39)		probably null	Het
Icam4	C	A	9: 20,940,799 (GRCm39)	P17Q	possibly damaging	Het
Lyz1	A	T	10: 117,125,022 (GRCm39)		probably null	Het
Matcap1	T	C	8: 106,011,351 (GRCm39)	N261S	probably damaging	Het
Mbd6	A	G	10: 127,119,389 (GRCm39)		probably benign	Het
Mroh3	A	T	1: 136,118,718 (GRCm39)	I533N	probably damaging	Het
Muc4	A	T	16: 32,569,887 (GRCm39)	M316L	probably benign	Het
Myof	A	G	19: 37,889,725 (GRCm39)	I1282T	possibly damaging	Het
Ncald	T	G	15: 37,397,528 (GRCm39)	I51L	probably benign	Het
Negr1	T	A	3: 156,267,862 (GRCm39)	S11T	probably damaging	Het
Obscn	T	C	11: 58,920,167 (GRCm39)	N6735D	probably damaging	Het
Or52n4b	T	C	7: 108,144,292 (GRCm39)	S185P	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or6c1b	A	T	10: 129,273,157 (GRCm39)	M159L	probably benign	Het
Or9q1	T	A	19: 13,805,140 (GRCm39)	I207F	possibly damaging	Het
Otogl	A	G	10: 107,702,601 (GRCm39)	V684A	possibly damaging	Het
Palm3	A	G	8: 84,754,958 (GRCm39)	T157A	probably benign	Het
Pard3	T	A	8: 128,097,967 (GRCm39)		probably benign	Het
Pcdh15	A	G	10: 74,457,129 (GRCm39)	D1302G	probably damaging	Het
Pi16	G	A	17: 29,546,826 (GRCm39)	E467K	possibly damaging	Het
Plec	A	T	15: 76,056,983 (GRCm39)	I4183N	probably damaging	Het
Prag1	A	G	8: 36,571,277 (GRCm39)	E620G	probably damaging	Het
Ralbp1	G	A	17: 66,156,955 (GRCm39)	T646M	probably benign	Het
Rnf182	T	G	13: 43,821,823 (GRCm39)	S125A	probably benign	Het
Rpe	C	T	1: 66,754,300 (GRCm39)	T124I	probably benign	Het
Rufy4	T	C	1: 74,185,875 (GRCm39)	I514T	probably benign	Het
Sec13	A	T	6: 113,712,080 (GRCm39)	I85N	probably damaging	Het
Siglec1	C	T	2: 130,916,445 (GRCm39)		probably benign	Het
Skint5	T	C	4: 113,425,127 (GRCm39)		probably null	Het
Slc4a3	T	A	1: 75,532,725 (GRCm39)	I995K	probably damaging	Het
Smyd4	T	A	11: 75,290,534 (GRCm39)	S545T	possibly damaging	Het
Steap3	C	T	1: 120,169,313 (GRCm39)	R328H	possibly damaging	Het
Tgm6	G	A	2: 129,980,751 (GRCm39)	E183K	possibly damaging	Het
Themis	T	A	10: 28,657,828 (GRCm39)	V132E	possibly damaging	Het
Thsd1	T	A	8: 22,748,695 (GRCm39)	I461N	probably damaging	Het
Ttk	T	G	9: 83,750,120 (GRCm39)	S692A	probably damaging	Het
Twf1	A	G	15: 94,483,411 (GRCm39)	M99T	probably damaging	Het
Uchl3	T	A	14: 101,904,443 (GRCm39)	L89*	probably null	Het
Uhmk1	A	G	1: 170,034,760 (GRCm39)	V316A	probably damaging	Het
Unc80	A	G	1: 66,567,052 (GRCm39)	N886S	possibly damaging	Het
Vash2	G	T	1: 190,699,115 (GRCm39)		probably benign	Het
Vmn1r200	G	A	13: 22,579,718 (GRCm39)	E174K	probably benign	Het
Vps16	T	C	2: 130,279,632 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,541,594 (GRCm39)	E316G	possibly damaging	Het
Xpo1	T	C	11: 23,244,682 (GRCm39)	V1020A	possibly damaging	Het
Ylpm1	T	A	12: 85,075,886 (GRCm39)	N870K	probably benign	Het
Zfhx4	C	T	3: 5,466,048 (GRCm39)	Q2069*	probably null	Het
Zfp1005	T	A	2: 150,110,044 (GRCm39)	C245S	possibly damaging	Het
Zfp512b	C	A	2: 181,226,757 (GRCm39)		probably benign	Het

Other mutations in Ppp1r13l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Ppp1r13l	APN	7	19,109,193 (GRCm39)	missense	probably damaging	1.00
IGL01800:Ppp1r13l	APN	7	19,111,936 (GRCm39)	unclassified	probably benign
IGL02714:Ppp1r13l	APN	7	19,111,568 (GRCm39)	missense	possibly damaging	0.93
IGL03251:Ppp1r13l	APN	7	19,102,794 (GRCm39)	splice site	probably benign
R1147:Ppp1r13l	UTSW	7	19,109,772 (GRCm39)	missense	probably damaging	1.00
R1147:Ppp1r13l	UTSW	7	19,109,772 (GRCm39)	missense	probably damaging	1.00
R1845:Ppp1r13l	UTSW	7	19,102,536 (GRCm39)	missense	probably damaging	0.97
R1885:Ppp1r13l	UTSW	7	19,111,496 (GRCm39)	missense	probably damaging	1.00
R1886:Ppp1r13l	UTSW	7	19,111,496 (GRCm39)	missense	probably damaging	1.00
R2118:Ppp1r13l	UTSW	7	19,105,346 (GRCm39)	missense	possibly damaging	0.89
R4063:Ppp1r13l	UTSW	7	19,103,978 (GRCm39)	missense	probably benign
R4685:Ppp1r13l	UTSW	7	19,109,308 (GRCm39)	critical splice donor site	probably null
R5121:Ppp1r13l	UTSW	7	19,104,020 (GRCm39)	missense	probably damaging	1.00
R5604:Ppp1r13l	UTSW	7	19,109,524 (GRCm39)	missense	possibly damaging	0.89
R5669:Ppp1r13l	UTSW	7	19,106,947 (GRCm39)	missense	probably benign	0.00
R5911:Ppp1r13l	UTSW	7	19,109,817 (GRCm39)	critical splice donor site	probably null
R6002:Ppp1r13l	UTSW	7	19,111,895 (GRCm39)	missense	probably benign	0.22
R6058:Ppp1r13l	UTSW	7	19,104,500 (GRCm39)	missense	probably benign	0.01
R6170:Ppp1r13l	UTSW	7	19,104,362 (GRCm39)	missense	probably benign	0.13
R6171:Ppp1r13l	UTSW	7	19,111,436 (GRCm39)	missense	probably benign	0.06
R6246:Ppp1r13l	UTSW	7	19,103,783 (GRCm39)	missense	probably benign	0.00
R6418:Ppp1r13l	UTSW	7	19,105,256 (GRCm39)	missense	probably damaging	1.00
R6845:Ppp1r13l	UTSW	7	19,105,323 (GRCm39)	missense	probably damaging	0.99
R7367:Ppp1r13l	UTSW	7	19,104,081 (GRCm39)	missense	probably benign	0.36
R7381:Ppp1r13l	UTSW	7	19,102,786 (GRCm39)	critical splice donor site	probably null
R7467:Ppp1r13l	UTSW	7	19,105,305 (GRCm39)	missense	probably damaging	0.99
R7510:Ppp1r13l	UTSW	7	19,102,726 (GRCm39)	missense	possibly damaging	0.52
R8185:Ppp1r13l	UTSW	7	19,106,863 (GRCm39)	missense	probably benign	0.00
R8678:Ppp1r13l	UTSW	7	19,109,697 (GRCm39)	missense	probably benign	0.24
R8757:Ppp1r13l	UTSW	7	19,103,981 (GRCm39)	missense	probably damaging	1.00
R8759:Ppp1r13l	UTSW	7	19,103,981 (GRCm39)	missense	probably damaging	1.00
R8853:Ppp1r13l	UTSW	7	19,103,893 (GRCm39)	missense	probably benign	0.00
R8881:Ppp1r13l	UTSW	7	19,105,194 (GRCm39)	missense	probably damaging	1.00
R8994:Ppp1r13l	UTSW	7	19,102,695 (GRCm39)	missense	possibly damaging	0.90
R9741:Ppp1r13l	UTSW	7	19,103,725 (GRCm39)	missense	probably damaging	1.00
RF015:Ppp1r13l	UTSW	7	19,102,467 (GRCm39)	critical splice acceptor site	probably benign
RF022:Ppp1r13l	UTSW	7	19,102,467 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCTTGGCTCAGAAGTAGGATGGTG -3'
(R):5'- GCATAGCTACAAGTGTTCCAGCCTC -3'

Sequencing Primer
(F):5'- AGAAGTAGGATGGTGCTGCTG -3'
(R):5'- AAGTGTTCCAGCCTCTAAGTAGC -3'

Posted On

2013-06-12