Mutagenetix > Incidental Mutations

Incidental Mutation 'R1845:Ppp1r13l'

207640

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r13l

Ensembl Gene

ENSMUSG00000040734

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 13 like

Synonyms

NFkB interacting protein 1, wa3, IASPP

MMRRC Submission

039870-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.697) question?

Stock #

R1845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19359749-19378533 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19368611 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 15 (L15Q)

Ref Sequence

ENSEMBL: ENSMUSP00000118309 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047621
AA Change: L15Q

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047839
Gene: ENSMUSG00000040734
AA Change: L15Q

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

possibly damaging
Transcript: ENSMUST00000127785
AA Change: L15Q

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116351
Gene: ENSMUSG00000040734
AA Change: L15Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000132655
AA Change: L15Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118309
Gene: ENSMUSG00000040734
AA Change: L15Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140836
AA Change: L15Q

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114443
Gene: ENSMUSG00000040734
AA Change: L15Q

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,304,332	I142N	possibly damaging	Het
1110038F14Rik	CGGG	CGGGGGG	15: 76,949,663		probably benign	Het
Abca17	A	T	17: 24,267,716	C1446S	probably damaging	Het
Asb16	C	A	11: 102,276,756	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,376,544	V384I	possibly damaging	Het
BC024139	A	T	15: 76,125,261	L207*	probably null	Het
Bcl3	T	G	7: 19,809,627	S305R	probably damaging	Het
Cachd1	T	C	4: 100,777,358	V77A	probably benign	Het
Cd101	C	T	3: 101,029,448		probably null	Het
Cela1	T	C	15: 100,685,167	N64S	probably benign	Het
Cep128	T	C	12: 91,289,598	D366G	probably benign	Het
Col12a1	A	G	9: 79,697,541	V675A	probably benign	Het
Copg1	A	G	6: 87,893,818	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,487,917	R372G	probably benign	Het
Dcaf1	A	C	9: 106,851,962	I567L	probably benign	Het
Dcn	A	G	10: 97,506,674	D164G	probably benign	Het
Dnase2a	T	A	8: 84,909,322	H113Q	probably benign	Het
Espl1	T	C	15: 102,299,013	V304A	probably benign	Het
Fam193a	A	G	5: 34,443,372	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,531,035		probably null	Het
Foxp4	T	A	17: 47,877,959	T321S	probably null	Het
Fut10	A	G	8: 31,236,300	N361S	probably damaging	Het
Gm13762	A	G	2: 88,973,138	V251A	probably benign	Het
Gyg	A	T	3: 20,151,122	V94D	probably damaging	Het
Has2	T	C	15: 56,668,578	K247R	probably damaging	Het
Helz2	G	T	2: 181,232,085	D2205E	probably benign	Het
Hps6	T	A	19: 46,004,970	S449T	probably benign	Het
Ints10	T	C	8: 68,794,671	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,356,961	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,303,810	V280A	possibly damaging	Het
Klk1b5	A	G	7: 44,220,125	M210V	probably benign	Het
Kmt2c	G	A	5: 25,373,436	A614V	probably benign	Het
Lck	T	A	4: 129,558,086	I45F	probably benign	Het
Lin7a	A	C	10: 107,412,059	E75A	probably damaging	Het
Lrp1	A	T	10: 127,578,673	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 24,914,583	N289K	probably benign	Het
Mbtps1	T	C	8: 119,522,493	D686G	probably benign	Het
Mknk1	T	A	4: 115,873,231	C178*	probably null	Het
Mtmr6	A	G	14: 60,296,735	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,840,157		probably null	Het
Myh6	T	C	14: 54,944,674	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,635,531	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,927,041	F30S	probably damaging	Het
Nop14	G	T	5: 34,650,328	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1212	A	G	2: 88,958,867	I134V	probably damaging	Het
Olfr347	A	T	2: 36,734,842	I174F	probably damaging	Het
Olfr775	A	G	10: 129,250,594	E20G	probably benign	Het
Olfr794	A	T	10: 129,571,348	Q231L	probably damaging	Het
Olfr829	A	T	9: 18,857,486	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 97,059,128	S378R	probably damaging	Het
Otof	A	T	5: 30,371,723	Y1775*	probably null	Het
Parp16	T	C	9: 65,215,594	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pi16	A	T	17: 29,319,387	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,539,452	M190I	probably benign	Het
Plscr4	T	G	9: 92,490,046	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,723,806	D928G	possibly damaging	Het
Ptpn14	C	A	1: 189,839,502	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,954,899	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,497,070	Y342*	probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sltm	A	G	9: 70,543,032	N38S	possibly damaging	Het
Smg1	T	C	7: 118,154,622		probably benign	Het
Spsb1	A	T	4: 149,906,910	V67E	probably damaging	Het
Suox	A	G	10: 128,670,539	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,911,085	I483N	probably damaging	Het
Tbcb	A	T	7: 30,224,499	D198E	possibly damaging	Het
Tbce	T	C	13: 14,019,709	K122E	probably benign	Het
Tcap	T	A	11: 98,384,379	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,041	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,374,503	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,579,943	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,431,355	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,458,903	W1103R	probably damaging	Het
Ttn	C	T	2: 76,764,033	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,812,738	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,454,554	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,001,995	Y394*	probably null	Het
Zfp212	T	C	6: 47,931,541	S485P	probably benign	Het
Zfp512b	A	T	2: 181,585,735	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,671,741	Y974H	probably damaging	Het

Other mutations in Ppp1r13l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Ppp1r13l	APN	7	19375268	missense	probably damaging	1.00
IGL01800:Ppp1r13l	APN	7	19378011	unclassified	probably benign
IGL02714:Ppp1r13l	APN	7	19377643	missense	possibly damaging	0.93
IGL03251:Ppp1r13l	APN	7	19368869	splice site	probably benign
R0507:Ppp1r13l	UTSW	7	19375814	missense	possibly damaging	0.63
R1147:Ppp1r13l	UTSW	7	19375847	missense	probably damaging	1.00
R1147:Ppp1r13l	UTSW	7	19375847	missense	probably damaging	1.00
R1885:Ppp1r13l	UTSW	7	19377571	missense	probably damaging	1.00
R1886:Ppp1r13l	UTSW	7	19377571	missense	probably damaging	1.00
R2118:Ppp1r13l	UTSW	7	19371421	missense	possibly damaging	0.89
R4063:Ppp1r13l	UTSW	7	19370053	missense	probably benign
R4685:Ppp1r13l	UTSW	7	19375383	critical splice donor site	probably null
R5121:Ppp1r13l	UTSW	7	19370095	missense	probably damaging	1.00
R5604:Ppp1r13l	UTSW	7	19375599	missense	possibly damaging	0.89
R5669:Ppp1r13l	UTSW	7	19373022	missense	probably benign	0.00
R5911:Ppp1r13l	UTSW	7	19375892	critical splice donor site	probably null
R6002:Ppp1r13l	UTSW	7	19377970	missense	probably benign	0.22
R6058:Ppp1r13l	UTSW	7	19370575	missense	probably benign	0.01
R6170:Ppp1r13l	UTSW	7	19370437	missense	probably benign	0.13
R6171:Ppp1r13l	UTSW	7	19377511	missense	probably benign	0.06
R6246:Ppp1r13l	UTSW	7	19369858	missense	probably benign	0.00
R6418:Ppp1r13l	UTSW	7	19371331	missense	probably damaging	1.00
R6845:Ppp1r13l	UTSW	7	19371398	missense	probably damaging	0.99
R7367:Ppp1r13l	UTSW	7	19370156	missense	probably benign	0.36
R7381:Ppp1r13l	UTSW	7	19368861	critical splice donor site	probably null
R7467:Ppp1r13l	UTSW	7	19371380	missense	probably damaging	0.99
R7510:Ppp1r13l	UTSW	7	19368801	missense	possibly damaging	0.52
R8185:Ppp1r13l	UTSW	7	19372938	missense	probably benign	0.00
RF015:Ppp1r13l	UTSW	7	19368542	critical splice acceptor site	probably benign
RF022:Ppp1r13l	UTSW	7	19368542	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGGCAAGCTTCTGGACAGC -3'
(R):5'- AACTGCTTGGTTAATTCGTCCAC -3'

Sequencing Primer
(F):5'- GCCGTTTTGAAGGAACTGAC -3'
(R):5'- AATTCGTCCACTTTGGCGG -3'

Posted On

2014-06-23