Mutagenetix > Incidental Mutation

Incidental Mutation 'R8881:Ppp1r13l'

676910

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

068749-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R8881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19093674-19112458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19105194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 322 (R322H)

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: R322H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047839
Gene: ENSMUSG00000040734
AA Change: R322H

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: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (69/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,074,794 (GRCm39)	C612Y	probably benign	Het
Adam21	T	C	12: 81,606,650 (GRCm39)	T371A	probably benign	Het
Akap9	T	C	5: 4,011,279 (GRCm39)	S661P		Het
Anxa11	C	T	14: 25,874,687 (GRCm39)	R233C	probably damaging	Het
Capza3	A	C	6: 139,987,521 (GRCm39)	D40A	probably damaging	Het
Caskin1	C	A	17: 24,718,273 (GRCm39)	N294K	probably damaging	Het
Cdh1	T	C	8: 107,392,904 (GRCm39)	V796A	probably benign	Het
Cfap251	C	T	5: 123,462,438 (GRCm39)	P1249L	probably damaging	Het
Cped1	A	T	6: 22,119,578 (GRCm39)	T346S	possibly damaging	Het
Crisp4	A	T	1: 18,185,902 (GRCm39)	V278D	probably damaging	Het
Ddx60	A	C	8: 62,474,343 (GRCm39)	D1477A	possibly damaging	Het
Dmrtb1	T	C	4: 107,537,922 (GRCm39)	D82G	possibly damaging	Het
Dnah11	T	C	12: 118,077,647 (GRCm39)	N1282S	probably benign	Het
Dnah11	C	T	12: 118,090,550 (GRCm39)	V1104M	probably benign	Het
Dot1l	A	G	10: 80,621,429 (GRCm39)	E630G	probably damaging	Het
Dppa4	C	A	16: 48,108,299 (GRCm39)	T28K		Het
Dusp5	T	A	19: 53,529,745 (GRCm39)	S383T	probably benign	Het
Eef2k	C	T	7: 120,472,548 (GRCm39)	A87V	probably damaging	Het
Epha1	T	C	6: 42,337,961 (GRCm39)	Y828C	probably damaging	Het
Erbb4	A	C	1: 68,382,997 (GRCm39)		probably null	Het
Fam151b	T	A	13: 92,604,630 (GRCm39)	M120L	probably benign	Het
Fam237b	A	C	5: 5,625,379 (GRCm39)	D25A	possibly damaging	Het
Fez2	T	C	17: 78,689,051 (GRCm39)	D366G	probably damaging	Het
Frmd4b	G	T	6: 97,272,735 (GRCm39)	H886N	probably benign	Het
Galnt17	T	C	5: 130,906,635 (GRCm39)	H511R	probably benign	Het
Grpel1	C	A	5: 36,626,816 (GRCm39)	Q33K	possibly damaging	Het
Gzmm	A	C	10: 79,530,819 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,723 (GRCm39)	L3333F	probably damaging	Het
Il21r	A	T	7: 125,231,498 (GRCm39)	T309S	probably benign	Het
Itgal	G	A	7: 126,929,541 (GRCm39)	V1153M	probably benign	Het
Kdf1	G	A	4: 133,257,654 (GRCm39)	A390T	possibly damaging	Het
Lcn11	G	T	2: 25,669,296 (GRCm39)	R151L	probably benign	Het
Lgi3	T	A	14: 70,770,282 (GRCm39)	Y116N	probably damaging	Het
Llgl2	A	G	11: 115,743,866 (GRCm39)	H731R	probably benign	Het
Lrp5	A	T	19: 3,641,015 (GRCm39)	S1482T	probably damaging	Het
Meis2	T	C	2: 115,889,116 (GRCm39)	D212G	probably benign	Het
Mrgpra9	A	G	7: 46,885,242 (GRCm39)	C142R	possibly damaging	Het
Mrgprf	A	G	7: 144,861,999 (GRCm39)	H187R	probably benign	Het
Mvd	A	G	8: 123,164,564 (GRCm39)		probably null	Het
Neb	T	C	2: 52,096,999 (GRCm39)	I4938M	possibly damaging	Het
Nipal4	A	T	11: 46,042,177 (GRCm39)	M168K	probably benign	Het
Nr1h4	A	G	10: 89,319,351 (GRCm39)	Y158H	probably damaging	Het
Nrxn2	T	C	19: 6,554,920 (GRCm39)	I1133T	probably benign	Het
Numa1	T	C	7: 101,650,684 (GRCm39)	Y1472H	probably benign	Het
Or10ak8	A	G	4: 118,774,571 (GRCm39)	V31A	probably benign	Het
Or12j3	A	G	7: 139,952,698 (GRCm39)	V275A	probably benign	Het
Or2y10	G	A	11: 49,455,209 (GRCm39)	V154M	probably benign	Het
Or3a1d	T	C	11: 74,237,471 (GRCm39)	D313G	probably benign	Het
Or52h7	A	G	7: 104,213,619 (GRCm39)	M64V	possibly damaging	Het
Pate7	T	A	9: 35,689,384 (GRCm39)		probably benign	Het
Pcdha6	G	T	18: 37,101,484 (GRCm39)	V226F	probably damaging	Het
Pnpla6	G	A	8: 3,581,489 (GRCm39)	M605I	probably benign	Het
Sgtb	T	C	13: 104,258,046 (GRCm39)		probably null	Het
Skint6	T	C	4: 112,672,716 (GRCm39)	K1086E	possibly damaging	Het
Slc4a11	T	C	2: 130,527,457 (GRCm39)	E646G	probably damaging	Het
Speg	G	T	1: 75,377,795 (GRCm39)	R851L	possibly damaging	Het
Spns3	T	G	11: 72,429,912 (GRCm39)	D172A	probably damaging	Het
Srgap3	A	G	6: 112,700,098 (GRCm39)	V984A	probably benign	Het
Syne1	A	T	10: 5,223,639 (GRCm39)	D3080E	probably damaging	Het
Taf5l	T	C	8: 124,730,101 (GRCm39)	H196R	possibly damaging	Het
Tmem229a	G	C	6: 24,955,587 (GRCm39)	R56G	probably damaging	Het
Tmprss6	A	C	15: 78,327,987 (GRCm39)	*582G	probably null	Het
Trip13	C	A	13: 74,077,795 (GRCm39)	R173L	possibly damaging	Het
Trpm7	A	T	2: 126,661,883 (GRCm39)	V1055E	probably damaging	Het
Utrn	A	G	10: 12,423,737 (GRCm39)	I2T	possibly damaging	Het
V1rd19	T	A	7: 23,703,081 (GRCm39)	S182R	possibly damaging	Het
Vmn2r58	C	A	7: 41,486,609 (GRCm39)	G762V	probably benign	Het
Zfp874b	T	C	13: 67,622,141 (GRCm39)	K386E	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
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
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'- CCTCAAGGTGTGGATACTCTTC -3'
(R):5'- TCCATGTTCCCAGAAAGCATTC -3'

Sequencing Primer
(F):5'- CCTGTAGTGCGAAATGGCCAAC -3'
(R):5'- CTGGAGTTTAAAGATCATACTGAGGG -3'

Posted On

2021-07-15