Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02472:Inpp5j'

294797

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Inpp5j

Ensembl Gene

ENSMUSG00000034570

Gene Name

inositol polyphosphate 5-phosphatase J

Synonyms

Pipp, Pib5pa

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.529) question?

Stock #

IGL02472

Quality Score

Status

Chromosome

Chromosomal Location

3494375-3504821 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 3495338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044507] [ENSMUST00000044682] [ENSMUST00000064265] [ENSMUST00000110018] [ENSMUST00000110019] [ENSMUST00000154756] [ENSMUST00000183684]

AlphaFold

P59644

Predicted Effect

probably benign
Transcript: ENSMUST00000044507

SMART Domains

Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570

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: ENSMUST00000064265

SMART Domains

Protein: ENSMUSP00000068699
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	426	5.1e-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

probably benign
Transcript: ENSMUST00000148939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151860

Predicted Effect

probably benign
Transcript: ENSMUST00000154756

SMART Domains

Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570

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

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	A	G	15: 76,950,378	N158S	probably damaging	Het
Ankrd17	A	C	5: 90,264,151	L1285V	probably damaging	Het
Atp8b2	G	A	3: 89,954,239	T267I	probably damaging	Het
Becn1	C	T	11: 101,291,398	G115D	probably benign	Het
Cd3eap	T	C	7: 19,359,105	D50G	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Chd6	A	C	2: 160,984,452		probably benign	Het
Col22a1	A	G	15: 71,827,753		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnm2	A	G	9: 21,485,708	I494V	possibly damaging	Het
Dock2	T	A	11: 34,249,801	E1416D	probably benign	Het
Eif2ak1	A	G	5: 143,884,883	H339R	probably benign	Het
Espnl	C	T	1: 91,340,534	P294L	probably benign	Het
Ftmt	T	A	18: 52,331,840	I76N	possibly damaging	Het
Gorasp2	T	G	2: 70,676,459		probably benign	Het
Hadhb	T	A	5: 30,184,063	M468K	possibly damaging	Het
Hfm1	A	G	5: 106,873,928		probably benign	Het
Ipo7	T	A	7: 110,040,853	F288I	probably damaging	Het
Kcnv1	T	A	15: 45,109,123	K455*	probably null	Het
Kdm5a	A	G	6: 120,406,730		probably benign	Het
Kmt2d	G	A	15: 98,850,077	S3122F	probably benign	Het
Kndc1	A	G	7: 139,910,901	I440V	probably benign	Het
Mib2	T	A	4: 155,656,746	I545F	probably damaging	Het
Nav2	C	T	7: 49,546,041	P1055L	probably damaging	Het
Olfr111	C	A	17: 37,530,749	F257L	probably damaging	Het
Olfr1257	T	A	2: 89,881,411	I195N	probably benign	Het
Plch1	A	T	3: 63,701,849	L65Q	probably damaging	Het
Ppp3ca	A	G	3: 136,921,862	I396V	possibly damaging	Het
Ryr1	A	T	7: 29,040,844	N3917K	probably damaging	Het
Scn7a	T	C	2: 66,752,314	T80A	probably damaging	Het
Sema3f	C	T	9: 107,687,736	E307K	probably damaging	Het
Serpinb9b	A	T	13: 33,039,970		probably benign	Het
Siglec15	T	A	18: 78,043,617	K342N	possibly damaging	Het
Slc2a12	T	C	10: 22,665,155	F303S	probably damaging	Het
Slc9c1	T	C	16: 45,580,142	V705A	probably benign	Het
Tenm4	T	C	7: 96,774,176		probably benign	Het
Tm6sf1	A	T	7: 81,875,824		probably benign	Het
Tmem245	T	C	4: 56,899,119	Y269C	probably damaging	Het
Txndc2	A	G	17: 65,637,976	I402T	possibly damaging	Het
Ube4b	A	G	4: 149,387,079		probably null	Het
Usp28	T	A	9: 49,037,769	Y863N	possibly damaging	Het
Vmn2r69	T	C	7: 85,409,752	I534V	probably benign	Het
Wdr89	A	T	12: 75,632,969	D170E	probably damaging	Het
Zfp280d	C	A	9: 72,301,711	N74K	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	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	splice site	probably null
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
R1463:Inpp5j	UTSW	11	3501147	missense	probably benign	0.03
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	splice site	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
R8360:Inpp5j	UTSW	11	3499767	missense	probably damaging	0.99
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

Posted On

2015-04-16