Mutagenetix > Incidental Mutation

Incidental Mutation 'R8757:Ppp1r13l'

671686

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

068621-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.669) question?

Stock #

R8757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19093674-19112458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19103981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 154 (G154V)

Ref Sequence

ENSEMBL: ENSMUSP00000047839 (fasta)

Gene Model

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

AlphaFold

Q5I1X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000047621
AA Change: G154V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047839
Gene: ENSMUSG00000040734
AA Change: G154V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (59/59)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	C	11: 117,697,112 (GRCm39)	V237A	probably benign	Het
Abca15	G	A	7: 120,006,631 (GRCm39)	V1632M	probably damaging	Het
Adam20	A	T	8: 41,248,943 (GRCm39)	H351L	probably benign	Het
Ak9	T	C	10: 41,299,036 (GRCm39)	V1579A	unknown	Het
Apol7e	T	C	15: 77,602,065 (GRCm39)	V221A	probably benign	Het
Arid5b	T	C	10: 67,933,640 (GRCm39)	H754R	probably damaging	Het
Atp6v0d2	T	A	4: 19,910,649 (GRCm39)	R80S	probably benign	Het
Cers3	G	A	7: 66,435,850 (GRCm39)	V270M	probably damaging	Het
Ces3a	A	G	8: 105,784,129 (GRCm39)	H443R	probably damaging	Het
Cnot7	A	G	8: 40,947,080 (GRCm39)	V269A	probably benign	Het
Cntn1	T	G	15: 92,153,801 (GRCm39)	F485V	possibly damaging	Het
Copa	A	G	1: 171,947,081 (GRCm39)	I1068M	probably benign	Het
Dchs2	G	A	3: 83,261,567 (GRCm39)	V2612M	possibly damaging	Het
Dgkz	T	C	2: 91,775,922 (GRCm39)	T114A	probably benign	Het
Dock2	A	T	11: 34,586,067 (GRCm39)	D538E	probably benign	Het
Epn3	C	A	11: 94,386,848 (GRCm39)	G174V	possibly damaging	Het
Evx2	C	T	2: 74,486,226 (GRCm39)	A388T	probably benign	Het
Fancd2	T	C	6: 113,537,054 (GRCm39)	M553T	possibly damaging	Het
Ficd	G	T	5: 113,876,575 (GRCm39)	R250L	probably damaging	Het
Fmo2	A	G	1: 162,708,005 (GRCm39)	S377P	probably benign	Het
Gm19410	A	T	8: 36,276,119 (GRCm39)	Q1592L	possibly damaging	Het
Gm4792	T	A	10: 94,131,049 (GRCm39)	T87S	unknown	Het
Gm8947	C	A	1: 151,068,809 (GRCm39)	T214K	probably benign	Het
H6pd	C	T	4: 150,066,758 (GRCm39)	V551I	probably benign	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Heyl	C	T	4: 123,127,666 (GRCm39)	R3W	probably damaging	Het
Htr4	T	A	18: 62,545,335 (GRCm39)	V40E	probably damaging	Het
Ighg1	A	T	12: 113,292,657 (GRCm39)	L304*	probably null	Het
Igkv1-135	T	A	6: 67,587,470 (GRCm39)	W114R	possibly damaging	Het
Itga8	T	C	2: 12,266,940 (GRCm39)	D165G	probably damaging	Het
Kmt2a	A	T	9: 44,754,210 (GRCm39)	V1210E	unknown	Het
Lipt2	GGCGCCCGCGCGCG	GGCG	7: 99,808,888 (GRCm39)		probably null	Het
Lrrc37a	A	G	11: 103,348,766 (GRCm39)	V2643A	unknown	Het
Map4k5	A	G	12: 69,897,598 (GRCm39)		probably benign	Het
Mecom	A	T	3: 30,292,268 (GRCm39)	D14E		Het
Myo3a	G	T	2: 22,448,319 (GRCm39)	K969N	possibly damaging	Het
Nat3	T	C	8: 68,000,202 (GRCm39)	I27T	probably damaging	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Nr2c1	T	C	10: 94,031,119 (GRCm39)	L560P	probably damaging	Het
Or52e8	T	C	7: 104,624,325 (GRCm39)	N293S	probably damaging	Het
Pik3cg	T	C	12: 32,255,006 (GRCm39)	D327G	probably damaging	Het
Ppihl	A	T	5: 44,070,999 (GRCm39)	N119I	probably benign	Het
Psmc5	A	G	11: 106,153,687 (GRCm39)	D382G	probably benign	Het
Ptprz1	C	A	6: 22,972,716 (GRCm39)	Q209K	possibly damaging	Het
Rev1	A	C	1: 38,098,353 (GRCm39)	L730R	probably damaging	Het
Rin3	G	A	12: 102,339,861 (GRCm39)	V684I	probably damaging	Het
Ror1	T	A	4: 100,298,080 (GRCm39)	F484L	probably benign	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Sema6d	G	A	2: 124,497,134 (GRCm39)	C136Y	probably damaging	Het
Sf3a2	T	A	10: 80,640,138 (GRCm39)	H316Q	unknown	Het
Slc18b1	T	C	10: 23,692,198 (GRCm39)		silent	Het
Sp100	T	C	1: 85,590,285 (GRCm39)	V93A	possibly damaging	Het
Spta1	C	T	1: 174,040,940 (GRCm39)	L1247F	probably damaging	Het
Syne1	T	A	10: 5,144,618 (GRCm39)	N21I	probably damaging	Het
Tbck	G	T	3: 132,392,587 (GRCm39)	M9I	probably benign	Het
Tln2	T	C	9: 67,274,500 (GRCm39)	Y376C	probably damaging	Het
Tmem199	T	A	11: 78,398,633 (GRCm39)		probably benign	Het
Ttf2	A	G	3: 100,857,648 (GRCm39)	L759P	probably damaging	Het
Ubqlnl	T	A	7: 103,799,206 (GRCm39)	H97L	probably damaging	Het
Zfp800	T	C	6: 28,244,270 (GRCm39)	I232V	probably benign	Het
Zfp831	A	G	2: 174,487,874 (GRCm39)	T850A	probably benign	Het
Zpld2	T	C	4: 133,930,282 (GRCm39)	T8A	unknown	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
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
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'- GGTCACCTCAGAAGATAGCCAC -3'
(R):5'- GACTAGACCGACTGAACCAG -3'

Sequencing Primer
(F):5'- CATAGAGGCCCGTTTTGGAC -3'
(R):5'- AGCCTCCCAAAGAGAGGGTC -3'

Posted On

2021-04-30