Mutagenetix > Incidental Mutations

Incidental Mutation 'R1463:Inpp5j'

159239

Institutional Source

Beutler Lab

Gene Symbol

Inpp5j

Ensembl Gene

ENSMUSG00000034570

Gene Name

inositol polyphosphate 5-phosphatase J

Synonyms

Pipp, Pib5pa

MMRRC Submission

039517-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R1463 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

3494375-3504821 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3501147 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 501 (M501V)

Ref Sequence

ENSEMBL: ENSMUSP00000139302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044507] [ENSMUST00000044682] [ENSMUST00000110018] [ENSMUST00000110019] [ENSMUST00000154756] [ENSMUST00000183684]

Predicted Effect

probably benign
Transcript: ENSMUST00000044507
AA Change: M501V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570
AA Change: M501V

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
low complexity region	115	131	N/A	INTRINSIC
low complexity region	144	155	N/A	INTRINSIC
low complexity region	180	216	N/A	INTRINSIC
low complexity region	292	311	N/A	INTRINSIC
low complexity region	333	365	N/A	INTRINSIC
low complexity region	390	413	N/A	INTRINSIC
IPPc	418	733	4.41e-98	SMART
low complexity region	840	862	N/A	INTRINSIC
low complexity region	868	887	N/A	INTRINSIC
low complexity region	898	919	N/A	INTRINSIC
low complexity region	924	943	N/A	INTRINSIC
low complexity region	992	1002	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000044682

SMART Domains

Protein: ENSMUSP00000041571
Gene: ENSMUSG00000034579

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PA2c	139	259	1.58e-2	SMART
low complexity region	305	324	N/A	INTRINSIC
Pfam:Phospholip_A2_2	343	431	4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110018

SMART Domains

Protein: ENSMUSP00000105645
Gene: ENSMUSG00000034570

Domain	Start	End	E-Value	Type
IPPc	2	301	4e-86	SMART
low complexity region	408	430	N/A	INTRINSIC
low complexity region	436	455	N/A	INTRINSIC
low complexity region	466	487	N/A	INTRINSIC
low complexity region	492	511	N/A	INTRINSIC
low complexity region	560	570	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110019

SMART Domains

Protein: ENSMUSP00000105646
Gene: ENSMUSG00000034570

Domain	Start	End	E-Value	Type
IPPc	2	301	4e-86	SMART
low complexity region	408	430	N/A	INTRINSIC
low complexity region	436	455	N/A	INTRINSIC
low complexity region	466	487	N/A	INTRINSIC
low complexity region	492	511	N/A	INTRINSIC
low complexity region	560	570	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000148939
AA Change: M129V

Predicted Effect

probably benign
Transcript: ENSMUST00000154756
AA Change: M501V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570
AA Change: M501V

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
low complexity region	115	131	N/A	INTRINSIC
low complexity region	144	155	N/A	INTRINSIC
low complexity region	180	216	N/A	INTRINSIC
low complexity region	292	311	N/A	INTRINSIC
low complexity region	333	365	N/A	INTRINSIC
low complexity region	390	413	N/A	INTRINSIC
IPPc	418	733	4.41e-98	SMART
low complexity region	870	880	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183684

Meta Mutation Damage Score

0.1574

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

97% (97/100)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele are viable, fertile, and show normal mammary gland development and no spontaneous mammary tumors. However, in an oncogene-driven breast cancer mouse model, mice show increased mammary hyperplasia and tumor growth paradoxically associated with reduced lung metastases. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,073		probably benign	Het
4931408C20Rik	G	T	1: 26,682,141	Y1319*	probably null	Het
Abca5	A	T	11: 110,314,558	I299N	probably damaging	Het
Abcc8	T	C	7: 46,154,512	T413A	probably benign	Het
Actc1	G	A	2: 114,049,529	S201F	probably damaging	Het
Adam30	G	A	3: 98,162,525	C558Y	probably damaging	Het
Adcy4	T	A	14: 55,778,939	I352F	probably damaging	Het
Adgrl4	A	T	3: 151,510,596	D472V	probably damaging	Het
Afap1l2	T	A	19: 56,930,151	M117L	probably benign	Het
AI597479	T	C	1: 43,113,229	V229A	probably damaging	Het
Ascc1	T	C	10: 60,062,516	V267A	probably benign	Het
Asxl3	A	G	18: 22,516,753	S600G	possibly damaging	Het
Atg14	T	C	14: 47,548,994	I268V	probably benign	Het
Bcas1	C	T	2: 170,418,664	V32I	probably benign	Het
Cacna1c	G	T	6: 118,593,994	D2106E	probably benign	Het
Cacna1i	A	G	15: 80,379,054	H1440R	possibly damaging	Het
Catsper2	G	A	2: 121,406,446	T240M	probably damaging	Het
Cd163	A	G	6: 124,311,447	E279G	probably damaging	Het
Cdx2	C	T	5: 147,306,660	S108N	probably benign	Het
Cenpf	A	T	1: 189,654,739	N1781K	probably damaging	Het
Cgref1	T	A	5: 30,935,994		probably benign	Het
Clcn4	C	T	7: 7,296,764	W22*	probably null	Het
Cntn2	A	G	1: 132,521,137		probably null	Het
Cntn5	C	T	9: 9,673,796		probably null	Het
Cpeb3	A	G	19: 37,139,100	M377T	probably benign	Het
Cryge	T	A	1: 65,048,838	R135*	probably null	Het
Ctdsp2	C	A	10: 126,993,921		probably benign	Het
Ctsll3	G	A	13: 60,801,275		probably benign	Het
Cuzd1	C	A	7: 131,316,642	G189C	probably damaging	Het
Dmbt1	T	A	7: 131,109,637		probably null	Het
Dnajc13	A	T	9: 104,178,940	S1587R	probably damaging	Het
Dock4	GCTCAGTGTATC	GC	12: 40,816,325		probably null	Het
Dock6	T	C	9: 21,831,906	H701R	probably damaging	Het
Edem3	A	G	1: 151,807,510	T646A	possibly damaging	Het
Esrra	A	C	19: 6,912,455	D160E	probably benign	Het
Fbn2	T	C	18: 58,010,380	T2868A	probably benign	Het
Galnt7	T	A	8: 57,652,858	M41L	probably benign	Het
Gbf1	T	C	19: 46,271,545		probably benign	Het
Glyat	A	G	19: 12,648,103	N63S	probably damaging	Het
Gm9376	A	T	14: 118,267,482	M109L	probably benign	Het
H2-M10.3	A	G	17: 36,366,720	V222A	probably damaging	Het
Ifna12	T	G	4: 88,602,956	D118A	possibly damaging	Het
Itpr3	C	T	17: 27,117,154		probably benign	Het
Ivns1abp	A	G	1: 151,361,540	N527S	probably benign	Het
Kif13a	T	C	13: 46,929,612	T4A	possibly damaging	Het
Kif3b	T	C	2: 153,330,153	*748Q	probably null	Het
Klf8	C	T	X: 153,384,681	Q241*	probably null	Het
Kras	A	T	6: 145,225,061		probably benign	Het
Lamc3	C	A	2: 31,887,411	T23K	probably benign	Het
Lrrc74b	T	A	16: 17,559,873	H47L	probably benign	Het
Ly75	A	G	2: 60,368,757		probably null	Het
Map3k21	G	A	8: 125,942,137	G821S	probably benign	Het
Mettl14	A	G	3: 123,374,073		probably benign	Het
Mettl5	T	C	2: 69,885,246		probably benign	Het
Mier3	A	G	13: 111,711,755	D301G	probably damaging	Het
Mipep	T	C	14: 60,788,146		probably benign	Het
Mmp21	T	C	7: 133,675,859		probably null	Het
Msh4	A	G	3: 153,857,570	L723P	probably damaging	Het
Muc5b	T	C	7: 141,859,080	V1921A	unknown	Het
Myo1e	G	A	9: 70,338,756	E410K	possibly damaging	Het
Nav2	T	G	7: 49,535,962	I951S	probably damaging	Het
Npc1	G	A	18: 12,191,830	T1202I	probably damaging	Het
Olfr1441	C	T	19: 12,422,888	T193I	probably benign	Het
Olfr218	A	G	1: 173,203,367	K4E	probably benign	Het
Olfr324	A	G	11: 58,598,121	R242G	probably damaging	Het
Patl2	C	T	2: 122,123,735	V452M	probably benign	Het
Pcdh18	A	G	3: 49,755,405	V487A	probably damaging	Het
Pdzph1	C	T	17: 58,932,445	A963T	probably damaging	Het
Pkd1l1	C	T	11: 8,916,302	V518M	probably damaging	Het
Plcd3	A	G	11: 103,078,373	F256S	probably damaging	Het
Proc	T	C	18: 32,133,438	D112G	possibly damaging	Het
Ptges2	T	A	2: 32,400,862		probably null	Het
Pth2r	A	T	1: 65,363,277	R312W	probably damaging	Het
Rbbp6	C	T	7: 122,992,453	H546Y	possibly damaging	Het
Retreg2	A	G	1: 75,146,520	E364G	probably damaging	Het
Rxrb	G	A	17: 34,034,160	C185Y	probably damaging	Het
Sept2	T	A	1: 93,499,315	N133K	possibly damaging	Het
Serpina3b	T	A	12: 104,138,710	S382T	probably benign	Het
Serpinb9e	T	C	13: 33,255,116	F175S	probably benign	Het
Slc19a2	C	T	1: 164,257,197	H219Y	probably damaging	Het
Slfn9	A	T	11: 82,981,698	D737E	possibly damaging	Het
Snx31	T	C	15: 36,539,298	E144G	probably null	Het
Sp2	A	G	11: 96,963,456		probably benign	Het
Spag9	C	T	11: 94,116,837	L1117F	probably damaging	Het
Syndig1l	A	T	12: 84,680,363		probably benign	Het
Sypl	A	T	12: 32,974,333		probably benign	Het
Tmem169	T	C	1: 72,300,696	M95T	probably benign	Het
Tmem206	T	C	1: 191,328,289		probably benign	Het
Tnfrsf17	A	G	16: 11,315,202	Y48C	possibly damaging	Het
Ttn	A	T	2: 76,827,515		probably benign	Het
Uap1	G	C	1: 170,150,383	H366Q	probably benign	Het
Ulbp1	A	G	10: 7,446,557		probably benign	Het
Urb2	T	C	8: 124,030,908	V1118A	probably benign	Het
Usp54	T	C	14: 20,550,190	N1493S	probably benign	Het
Vmn1r129	C	A	7: 21,360,730	V188F	probably benign	Het
Vmn1r226	A	T	17: 20,687,732	L75F	probably benign	Het
Wdr78	T	A	4: 103,087,418	L245F	possibly damaging	Het
Wisp1	T	A	15: 66,919,271	N307K	possibly damaging	Het
Yes1	T	A	5: 32,651,702	S137R	probably benign	Het
Zfp804b	A	G	5: 7,179,372		probably benign	Het

Other mutations in Inpp5j

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Inpp5j	APN	11	3500009	splice site	probably benign
IGL00435:Inpp5j	APN	11	3502255	missense	probably benign	0.00
IGL00509:Inpp5j	APN	11	3501595	missense	possibly damaging	0.94
IGL00916:Inpp5j	APN	11	3502389	missense	probably damaging	1.00
IGL00975:Inpp5j	APN	11	3502176	missense	probably damaging	1.00
IGL01523:Inpp5j	APN	11	3495932	unclassified	probably null
IGL02472:Inpp5j	APN	11	3495338	unclassified	probably benign
IGL02512:Inpp5j	APN	11	3499661	missense	probably damaging	1.00
IGL02897:Inpp5j	APN	11	3500619	missense	probably damaging	1.00
IGL03408:Inpp5j	APN	11	3502809	missense	possibly damaging	0.95
R0048:Inpp5j	UTSW	11	3501417	missense	probably damaging	0.97
R0440:Inpp5j	UTSW	11	3501150	missense	possibly damaging	0.95
R0455:Inpp5j	UTSW	11	3503122	missense	possibly damaging	0.66
R0483:Inpp5j	UTSW	11	3499738	missense	probably damaging	1.00
R0554:Inpp5j	UTSW	11	3499644	missense	probably damaging	1.00
R0639:Inpp5j	UTSW	11	3501147	missense	probably benign	0.29
R0673:Inpp5j	UTSW	11	3501147	missense	probably benign	0.29
R0926:Inpp5j	UTSW	11	3501439	splice site	probably benign
R1114:Inpp5j	UTSW	11	3494814	missense	possibly damaging	0.57
R1132:Inpp5j	UTSW	11	3502305	missense	possibly damaging	0.90
R1757:Inpp5j	UTSW	11	3504738	missense	possibly damaging	0.49
R1978:Inpp5j	UTSW	11	3502150	missense	probably damaging	1.00
R3078:Inpp5j	UTSW	11	3503124	unclassified	probably null
R3831:Inpp5j	UTSW	11	3500229	missense	probably damaging	1.00
R4012:Inpp5j	UTSW	11	3500185	missense	probably benign	0.06
R4183:Inpp5j	UTSW	11	3501134	missense	probably damaging	0.99
R4209:Inpp5j	UTSW	11	3501107	missense	probably damaging	1.00
R4210:Inpp5j	UTSW	11	3501107	missense	probably damaging	1.00
R4211:Inpp5j	UTSW	11	3501107	missense	probably damaging	1.00
R4477:Inpp5j	UTSW	11	3501625	missense	probably damaging	1.00
R4729:Inpp5j	UTSW	11	3495025	missense	probably damaging	0.99
R4840:Inpp5j	UTSW	11	3499676	missense	probably damaging	1.00
R5025:Inpp5j	UTSW	11	3500664	missense	probably damaging	1.00
R5151:Inpp5j	UTSW	11	3502270	missense	probably damaging	1.00
R5195:Inpp5j	UTSW	11	3499889	critical splice donor site	probably null
R5623:Inpp5j	UTSW	11	3494766	missense	probably damaging	0.96
R6262:Inpp5j	UTSW	11	3502615	missense	probably benign	0.02
R6448:Inpp5j	UTSW	11	3495387	missense	probably damaging	0.99
R6465:Inpp5j	UTSW	11	3502293	missense	possibly damaging	0.84
R6723:Inpp5j	UTSW	11	3500640	missense	probably damaging	0.99
R6895:Inpp5j	UTSW	11	3495557	splice site	probably null
R7060:Inpp5j	UTSW	11	3500133	splice site	probably null
R7346:Inpp5j	UTSW	11	3501065	missense	probably damaging	1.00
R8026:Inpp5j	UTSW	11	3495171	missense
T0975:Inpp5j	UTSW	11	3502527	missense	possibly damaging	0.69
Z1176:Inpp5j	UTSW	11	3502484	nonsense	probably null
Z1177:Inpp5j	UTSW	11	3502191	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTGCTAAGCGCACACTTAC -3'
(R):5'- GCGGCTCAAGGATGCTCTCTTTAC -3'

Sequencing Primer
(F):5'- TTTAAGCCAGGATGAGTTCTAAGG -3'
(R):5'- CTTTGTGCTGGTAACAACACAGAC -3'

Posted On

2014-03-14