Mutagenetix > Incidental Mutation

Incidental Mutation 'R4685:Ppp1r13l'

353603

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

041936-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R4685 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19093674-19112458 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 19109308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047839 (fasta)

Gene Model

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

AlphaFold

Q5I1X5

Predicted Effect

probably null
Transcript: ENSMUST00000047621

SMART Domains

Protein: ENSMUSP00000047839
Gene: ENSMUSG00000040734

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

0.9499

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (71/73)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	C	12: 17,057,185 (GRCm39)	D104G	probably damaging	Het
2810021J22Rik	T	C	11: 58,771,750 (GRCm39)	S411P	probably damaging	Het
Adcy2	T	C	13: 68,876,024 (GRCm39)	R493G	probably benign	Het
Adcy8	A	G	15: 64,609,287 (GRCm39)	I874T	probably benign	Het
Ano2	G	T	6: 125,957,087 (GRCm39)	E619*	probably null	Het
Apob	A	G	12: 8,056,456 (GRCm39)	K1613R	probably benign	Het
Arhgef10	T	A	8: 15,006,963 (GRCm39)	F476Y	probably damaging	Het
Bmf	G	A	2: 118,377,283 (GRCm39)	A74V	probably damaging	Het
Cadps	T	C	14: 12,467,139 (GRCm38)	E925G	possibly damaging	Het
Ccdc162	T	C	10: 41,557,682 (GRCm39)	D181G	possibly damaging	Het
Ccdc85c	A	T	12: 108,173,434 (GRCm39)	C387S	probably benign	Het
Cntnap5a	T	C	1: 116,374,410 (GRCm39)	V974A	possibly damaging	Het
Cplx3	T	A	9: 57,516,483 (GRCm39)	I407F	probably damaging	Het
Dnah7b	T	C	1: 46,250,488 (GRCm39)	F1703S	probably damaging	Het
Dsg3	C	A	18: 20,672,793 (GRCm39)	D821E	probably benign	Het
Ecel1	G	T	1: 87,080,668 (GRCm39)		probably null	Het
Edn1	A	T	13: 42,458,729 (GRCm39)		probably null	Het
Egfr	G	A	11: 16,808,980 (GRCm39)	C58Y	probably damaging	Het
Fam184a	T	C	10: 53,574,596 (GRCm39)	N282D	probably benign	Het
Fhit	T	A	14: 9,870,091 (GRCm38)	Q63L	probably damaging	Het
Gabarapl2	T	C	8: 112,669,150 (GRCm39)	V36A	probably benign	Het
Glis1	T	C	4: 107,424,842 (GRCm39)	V151A	probably benign	Het
Gm12695	A	G	4: 96,650,217 (GRCm39)	S210P	probably damaging	Het
Gpat4	TAGAAGA	TAGA	8: 23,672,865 (GRCm39)		probably benign	Het
H2-M10.4	G	A	17: 36,772,688 (GRCm39)	A98V	probably benign	Het
Hhat	C	A	1: 192,277,362 (GRCm39)	G366C	probably damaging	Het
Hydin	C	A	8: 111,189,154 (GRCm39)	A1186E	probably damaging	Het
Itgb2	T	A	10: 77,385,937 (GRCm39)		probably null	Het
Kank1	C	T	19: 25,387,398 (GRCm39)	A329V	possibly damaging	Het
Kdm4b	T	A	17: 56,708,675 (GRCm39)	S1070T	probably benign	Het
Kyat1	A	G	2: 30,078,277 (GRCm39)	Y101H	probably damaging	Het
Map4k5	T	C	12: 69,858,140 (GRCm39)	K679R	probably benign	Het
Mill1	A	T	7: 17,989,853 (GRCm39)	D45V	probably damaging	Het
Myo3a	T	A	2: 22,412,233 (GRCm39)	Y743N	probably damaging	Het
Nox4	C	G	7: 86,946,716 (GRCm39)	I137M	probably benign	Het
Odf4	A	G	11: 68,813,665 (GRCm39)		probably null	Het
Ostf1	A	T	19: 18,558,652 (GRCm39)	D210E	probably damaging	Het
Paxip1	A	T	5: 27,966,675 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,606,578 (GRCm39)	T211A	probably benign	Het
Pla2g4f	A	G	2: 120,135,496 (GRCm39)	S393P	probably damaging	Het
Plppr3	T	C	10: 79,703,359 (GRCm39)	T42A	probably damaging	Het
Plxna4	C	A	6: 32,142,779 (GRCm39)	G1559W	probably damaging	Het
Prex1	C	T	2: 166,480,252 (GRCm39)	V163M	probably damaging	Het
Prl6a1	A	G	13: 27,500,307 (GRCm39)	T93A	probably benign	Het
Psg16	T	C	7: 16,824,459 (GRCm39)	V81A	probably benign	Het
Rbm33	A	T	5: 28,613,280 (GRCm39)		probably benign	Het
Rest	C	T	5: 77,423,090 (GRCm39)	P298L	possibly damaging	Het
Rhobtb3	G	A	13: 76,027,051 (GRCm39)	R441*	probably null	Het
Rims4	T	A	2: 163,706,914 (GRCm39)	K155*	probably null	Het
Rps6kb1	C	T	11: 86,410,713 (GRCm39)		probably null	Het
Ryr2	T	C	13: 11,707,532 (GRCm39)	D2835G	probably damaging	Het
Sc5d	C	T	9: 42,169,946 (GRCm39)	V92I	probably benign	Het
Sell	A	T	1: 163,893,829 (GRCm39)	I175F	probably damaging	Het
Serpinb6d	A	G	13: 33,855,211 (GRCm39)	D295G	probably damaging	Het
Sphk1	A	G	11: 116,426,106 (GRCm39)	D96G	probably damaging	Het
Spns3	A	T	11: 72,428,096 (GRCm39)	V228D	probably damaging	Het
Sspo	A	G	6: 48,469,828 (GRCm39)	S4500G	probably damaging	Het
Syt9	T	A	7: 107,035,678 (GRCm39)	C232S	possibly damaging	Het
Terf1	A	G	1: 15,889,185 (GRCm39)	I176V	possibly damaging	Het
Tln2	C	T	9: 67,209,854 (GRCm39)	A428T	probably damaging	Het
Tmprss7	T	C	16: 45,499,711 (GRCm39)	N321S	probably benign	Het
Tomm40	A	G	7: 19,435,761 (GRCm39)	I323T	probably benign	Het
Try5	T	A	6: 41,288,233 (GRCm39)	Q240L	possibly damaging	Het
Vmn1r213	A	T	13: 23,195,800 (GRCm39)	I128L	probably benign	Het
Vmn2r80	T	C	10: 79,030,162 (GRCm39)	F663L	possibly damaging	Het
Znfx1	T	A	2: 166,880,950 (GRCm39)	Y278F	probably damaging	Het
Zpbp2	A	G	11: 98,442,117 (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
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
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'- CTCCTTTGAGCTAGCTGTGG -3'
(R):5'- CGATGAGGAAGTCCACGATG -3'

Sequencing Primer
(F):5'- GCTGGTGTCGCTGAAGC -3'
(R):5'- CACGATGGGGTAGTTGGCAC -3'

Posted On

2015-10-21