Mutagenetix > Incidental Mutation

Incidental Mutation 'R6058:Ppp1r13l'

483048

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

044224-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R6058 (G1)

Quality Score

158.009

Status

Not validated

Chromosome

Chromosomal Location

19093674-19112458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19104500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 273 (V273A)

Ref Sequence

ENSEMBL: ENSMUSP00000047839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047621] [ENSMUST00000127785] [ENSMUST00000132655] [ENSMUST00000140836]

AlphaFold

Q5I1X5

Predicted Effect

probably benign
Transcript: ENSMUST00000047621
AA Change: V273A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000047839
Gene: ENSMUSG00000040734
AA Change: V273A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127785

SMART Domains

Protein: ENSMUSP00000116351
Gene: ENSMUSG00000040734

Domain	Start	End	E-Value	Type
coiled coil region	25	49	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132655

SMART Domains

Protein: ENSMUSP00000118309
Gene: ENSMUSG00000040734

Domain	Start	End	E-Value	Type
coiled coil region	25	49	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140836

SMART Domains

Protein: ENSMUSP00000114443
Gene: ENSMUSG00000040734

Domain	Start	End	E-Value	Type
coiled coil region	25	49	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adamts20	G	A	15: 94,227,928 (GRCm39)	R1040*	probably null	Het
Akt1	A	G	12: 112,628,634 (GRCm39)	L52P	probably damaging	Het
Alk	T	A	17: 72,176,742 (GRCm39)	T1521S	probably benign	Het
Armt1	A	G	10: 4,403,488 (GRCm39)	N191S	probably damaging	Het
Ascl1	T	G	10: 87,328,562 (GRCm39)	N130T	probably damaging	Het
Bahcc1	T	G	11: 120,178,211 (GRCm39)	S2257A	probably damaging	Het
Cd86	T	C	16: 36,449,377 (GRCm39)	M7V	possibly damaging	Het
Cep57	A	T	9: 13,722,057 (GRCm39)	S304R	possibly damaging	Het
Cep57l1	A	T	10: 41,616,918 (GRCm39)	I123N	possibly damaging	Het
Cers6	A	G	2: 68,692,008 (GRCm39)	N10S	probably benign	Het
Chrng	A	G	1: 87,139,074 (GRCm39)	D475G	probably damaging	Het
Crabp1	T	A	9: 54,680,129 (GRCm39)	V128E	probably damaging	Het
Csnk2a1-ps3	T	C	1: 156,352,425 (GRCm39)	Y209H	probably damaging	Het
Dcdc2a	T	C	13: 25,240,354 (GRCm39)	V34A	possibly damaging	Het
Eeig1	G	A	2: 32,450,102 (GRCm39)	V117I	probably benign	Het
Fbn1	A	G	2: 125,308,532 (GRCm39)	C177R	possibly damaging	Het
Fras1	A	G	5: 96,857,844 (GRCm39)	D2046G	probably benign	Het
Glul	T	C	1: 153,783,087 (GRCm39)	I220T	probably benign	Het
Gpc6	C	T	14: 118,202,182 (GRCm39)	T464M	probably damaging	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
H2-K2	G	T	17: 34,218,304 (GRCm39)	T204K	probably benign	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hecw2	T	C	1: 53,963,135 (GRCm39)	H792R	possibly damaging	Het
Herc4	T	A	10: 63,110,821 (GRCm39)	I244K	possibly damaging	Het
Hsd11b2	G	T	8: 106,249,966 (GRCm39)	R359L	possibly damaging	Het
Igsf9	G	A	1: 172,312,456 (GRCm39)	E56K	probably damaging	Het
Il9	T	C	13: 56,628,495 (GRCm39)	T65A	possibly damaging	Het
Kcnip1	T	C	11: 33,592,478 (GRCm39)	T102A	probably damaging	Het
L3mbtl2	T	C	15: 81,551,555 (GRCm39)	S74P	probably benign	Het
Lamc2	C	T	1: 153,012,575 (GRCm39)	D700N	probably benign	Het
Ldb2	T	C	5: 44,633,905 (GRCm39)	T322A	possibly damaging	Het
Lix1	A	T	17: 17,664,012 (GRCm39)	I117F	probably damaging	Het
Map2	T	A	1: 66,454,573 (GRCm39)	D1154E	probably benign	Het
Marco	A	T	1: 120,404,435 (GRCm39)	I425N	probably damaging	Het
Mark4	T	C	7: 19,160,310 (GRCm39)	E650G	probably benign	Het
Mink1	A	G	11: 70,502,546 (GRCm39)	T1086A	possibly damaging	Het
Nxf1	G	A	19: 8,745,186 (GRCm39)	V479M	probably damaging	Het
Or10v1	T	A	19: 11,873,388 (GRCm39)	M1K	probably null	Het
Or11g2	T	C	14: 50,856,158 (GRCm39)	F160L	probably benign	Het
Or2n1e	A	G	17: 38,586,150 (GRCm39)	T163A	probably damaging	Het
Or5h23	T	C	16: 58,906,273 (GRCm39)	D191G	probably damaging	Het
Or5h23	A	G	16: 58,906,792 (GRCm39)	V18A	probably benign	Het
Or6c5	T	C	10: 129,074,329 (GRCm39)	S104P	probably damaging	Het
Otx2	T	C	14: 48,896,215 (GRCm39)	D281G	probably damaging	Het
Pcdhga3	A	T	18: 37,808,141 (GRCm39)	D198V	probably damaging	Het
Ppp6r2	T	C	15: 89,137,455 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,143,995 (GRCm39)	I273F	possibly damaging	Het
Prg4	C	T	1: 150,327,197 (GRCm39)	G873D	probably damaging	Het
Ptprq	T	C	10: 107,471,135 (GRCm39)	N1422S	probably benign	Het
Rbm27	A	T	18: 42,460,570 (GRCm39)	K839M	probably damaging	Het
Rere	A	T	4: 150,553,255 (GRCm39)	N149I	probably damaging	Het
Ret	A	G	6: 118,156,280 (GRCm39)	L340S	probably benign	Het
Sel1l2	T	A	2: 140,082,889 (GRCm39)	D583V	possibly damaging	Het
Shroom1	A	T	11: 53,354,308 (GRCm39)	D76V	possibly damaging	Het
Slc5a3	C	A	16: 91,875,963 (GRCm39)	S673R	probably benign	Het
Spink1	A	T	18: 43,861,247 (GRCm39)	I74N	probably damaging	Het
Tbc1d1	T	A	5: 64,435,352 (GRCm39)	S497T	probably damaging	Het
Trim3	C	T	7: 105,260,278 (GRCm39)	R741Q	probably damaging	Het
Ttn	A	G	2: 76,747,022 (GRCm39)	C4676R	probably benign	Het
Ubqlnl	G	A	7: 103,797,959 (GRCm39)	P513S	probably benign	Het
Unc13d	C	T	11: 115,964,394 (GRCm39)		probably null	Het
Vmn1r125	TGG	TG	7: 21,006,144 (GRCm39)		probably null	Het
Vmn2r7	A	T	3: 64,632,436 (GRCm39)	C9S	probably benign	Het
Xdh	T	A	17: 74,213,264 (GRCm39)	M829L	probably damaging	Het
Zcrb1	A	G	15: 93,285,463 (GRCm39)	F173L	probably benign	Het
Zfp41	T	C	15: 75,490,372 (GRCm39)	V108A	probably damaging	Het
Zfp438	T	C	18: 5,213,209 (GRCm39)	E583G	probably damaging	Het
Zfp628	T	C	7: 4,923,917 (GRCm39)	L713P	probably damaging	Het
Zfp664	T	A	5: 124,963,042 (GRCm39)	C145*	probably null	Het
Zfp683	T	C	4: 133,786,042 (GRCm39)	C390R	probably damaging	Het
Zfp941	G	A	7: 140,392,010 (GRCm39)	P450S	probably damaging	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
R0507:Ppp1r13l	UTSW	7	19,109,739 (GRCm39)	missense	possibly damaging	0.63
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
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'- CCTTTCACCAGATGACTCGAC -3'
(R):5'- GCCCTAGATTCAATCCTCAGC -3'

Sequencing Primer
(F):5'- ACCAGATGACTCGACGCTGC -3'
(R):5'- TCCCGCCACGAAGAAGAGTG -3'

Posted On

2017-07-14