Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02154:Inpp4b'

282175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Inpp4b

Ensembl Gene

ENSMUSG00000037940

Gene Name

inositol polyphosphate-4-phosphatase, type II

Synonyms

E130107I17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

IGL02154

Quality Score

Status

Chromosome

Chromosomal Location

82069185-82854543 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 82696130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042529] [ENSMUST00000109851] [ENSMUST00000109852] [ENSMUST00000169116] [ENSMUST00000169387] [ENSMUST00000170160] [ENSMUST00000172031] [ENSMUST00000213285] [ENSMUST00000215332] [ENSMUST00000217122]

AlphaFold

Q6P1Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000042529

SMART Domains

Protein: ENSMUSP00000044466
Gene: ENSMUSG00000037940

Domain	Start	End	E-Value	Type
C2	40	147	1.72e0	SMART
low complexity region	302	319	N/A	INTRINSIC
low complexity region	425	434	N/A	INTRINSIC
transmembrane domain	898	920	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109851

SMART Domains

Protein: ENSMUSP00000105477
Gene: ENSMUSG00000037940

Domain	Start	End	E-Value	Type
low complexity region	22	35	N/A	INTRINSIC
low complexity region	187	204	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
transmembrane domain	783	805	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109852

SMART Domains

Protein: ENSMUSP00000105478
Gene: ENSMUSG00000037940

Domain	Start	End	E-Value	Type
C2	40	164	5.29e0	SMART
low complexity region	319	336	N/A	INTRINSIC
low complexity region	442	451	N/A	INTRINSIC
transmembrane domain	915	937	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169116

SMART Domains

Protein: ENSMUSP00000131947
Gene: ENSMUSG00000037940

Domain	Start	End	E-Value	Type
C2	40	164	5.29e0	SMART
low complexity region	319	336	N/A	INTRINSIC
low complexity region	442	451	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169387

Predicted Effect

probably benign
Transcript: ENSMUST00000170160

SMART Domains

Protein: ENSMUSP00000132156
Gene: ENSMUSG00000037940

Domain	Start	End	E-Value	Type
low complexity region	134	151	N/A	INTRINSIC
low complexity region	257	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172031

SMART Domains

Protein: ENSMUSP00000131324
Gene: ENSMUSG00000037940

Domain	Start	End	E-Value	Type
C2	40	164	5.29e0	SMART
low complexity region	319	336	N/A	INTRINSIC
low complexity region	442	451	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213285

Predicted Effect

probably benign
Transcript: ENSMUST00000215332

Predicted Effect

probably benign
Transcript: ENSMUST00000217122

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit osteoporosis, reduced long bone length, increased osteoclast numbers and size, increased osteoblast numbers, and increased bone resorption and resorption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Armh4	G	A	14: 50,010,399 (GRCm39)	T436I	possibly damaging	Het
AW551984	G	A	9: 39,500,398 (GRCm39)	R787C	possibly damaging	Het
Cadm1	A	T	9: 47,725,201 (GRCm39)	I321L	probably benign	Het
Cfap57	A	G	4: 118,470,214 (GRCm39)	L222P	probably damaging	Het
Cox20	A	G	1: 178,150,119 (GRCm39)	I98V	probably benign	Het
Dmrta1	A	G	4: 89,580,150 (GRCm39)	N370S	probably benign	Het
Dnah17	A	G	11: 118,015,087 (GRCm39)	F386L	probably benign	Het
Fam135b	T	C	15: 71,320,559 (GRCm39)	I1323V	probably benign	Het
Fndc3b	A	G	3: 27,592,266 (GRCm39)	S211P	probably damaging	Het
Galnt10	T	G	11: 57,675,531 (GRCm39)	L597V	probably damaging	Het
Gtf2e2	T	C	8: 34,245,989 (GRCm39)		probably null	Het
Irag2	T	G	6: 145,083,967 (GRCm39)	M44R	possibly damaging	Het
Lacc1	A	G	14: 77,270,727 (GRCm39)	V269A	probably benign	Het
Mdn1	A	G	4: 32,740,395 (GRCm39)	D3750G	probably benign	Het
Mme	A	T	3: 63,250,976 (GRCm39)	Q339L	probably benign	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Myrf	A	T	19: 10,193,482 (GRCm39)	I558N	probably damaging	Het
Or52e8	C	T	7: 104,625,188 (GRCm39)	M1I	probably null	Het
Phb1	A	G	11: 95,565,997 (GRCm39)	I94V	possibly damaging	Het
Prg4	T	A	1: 150,330,613 (GRCm39)		probably benign	Het
Sirpb1a	T	C	3: 15,475,504 (GRCm39)	T344A	probably damaging	Het
Skap2	T	C	6: 51,989,308 (GRCm39)		probably benign	Het
Slc29a1	A	G	17: 45,897,089 (GRCm39)	I399T	probably damaging	Het
Sorl1	C	T	9: 41,915,330 (GRCm39)	V1300I	probably benign	Het
Tas2r117	T	C	6: 132,780,678 (GRCm39)	V272A	probably benign	Het
Tctn2	C	A	5: 124,746,624 (GRCm39)		noncoding transcript	Het
Tmem51	T	C	4: 141,759,089 (GRCm39)	N220D	probably damaging	Het
Trak2	T	C	1: 58,947,888 (GRCm39)	D584G	probably damaging	Het
Vmn1r78	A	G	7: 11,886,472 (GRCm39)	I28V	probably benign	Het
Vmn2r95	A	C	17: 18,672,248 (GRCm39)	I662L	probably benign	Het
Vwa8	C	A	14: 79,086,733 (GRCm39)	R4S	possibly damaging	Het

Other mutations in Inpp4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Inpp4b	APN	8	82,583,379 (GRCm39)	missense	probably damaging	1.00
IGL01481:Inpp4b	APN	8	82,724,009 (GRCm39)	missense	probably damaging	1.00
IGL01509:Inpp4b	APN	8	82,617,332 (GRCm39)	splice site	probably benign
IGL01515:Inpp4b	APN	8	82,679,340 (GRCm39)	missense	possibly damaging	0.68
IGL01607:Inpp4b	APN	8	82,737,292 (GRCm39)	missense	probably benign	0.03
IGL01643:Inpp4b	APN	8	82,798,400 (GRCm39)	missense	probably damaging	0.97
IGL01736:Inpp4b	APN	8	82,723,968 (GRCm39)	missense	probably benign	0.00
IGL02327:Inpp4b	APN	8	82,768,591 (GRCm39)	missense	probably benign	0.01
IGL02413:Inpp4b	APN	8	82,759,800 (GRCm39)	missense	probably benign
IGL02652:Inpp4b	APN	8	82,497,429 (GRCm39)	splice site	probably benign
IGL02678:Inpp4b	APN	8	82,583,373 (GRCm39)	missense	probably damaging	1.00
IGL03146:Inpp4b	APN	8	82,470,410 (GRCm39)	missense	possibly damaging	0.61
LCD18:Inpp4b	UTSW	8	82,419,639 (GRCm39)	intron	probably benign
PIT4280001:Inpp4b	UTSW	8	82,761,046 (GRCm39)	missense	probably benign	0.00
PIT4480001:Inpp4b	UTSW	8	82,772,896 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Inpp4b	UTSW	8	82,768,564 (GRCm39)	missense	probably damaging	1.00
R0083:Inpp4b	UTSW	8	82,468,091 (GRCm39)	missense	possibly damaging	0.77
R0212:Inpp4b	UTSW	8	82,497,546 (GRCm39)	missense	probably benign	0.00
R0285:Inpp4b	UTSW	8	82,761,145 (GRCm39)	splice site	probably benign
R0363:Inpp4b	UTSW	8	82,610,886 (GRCm39)	splice site	probably benign
R0364:Inpp4b	UTSW	8	82,723,943 (GRCm39)	missense	probably benign	0.09
R0471:Inpp4b	UTSW	8	82,768,528 (GRCm39)	missense	possibly damaging	0.94
R0550:Inpp4b	UTSW	8	82,723,966 (GRCm39)	missense	probably benign	0.00
R0562:Inpp4b	UTSW	8	82,494,780 (GRCm39)	missense	possibly damaging	0.88
R0661:Inpp4b	UTSW	8	82,468,091 (GRCm39)	missense	possibly damaging	0.77
R0693:Inpp4b	UTSW	8	82,723,943 (GRCm39)	missense	probably benign	0.09
R1081:Inpp4b	UTSW	8	82,795,653 (GRCm39)	missense	probably damaging	0.97
R1251:Inpp4b	UTSW	8	82,617,382 (GRCm39)	missense	probably benign	0.01
R1374:Inpp4b	UTSW	8	82,470,445 (GRCm39)	critical splice donor site	probably null
R1445:Inpp4b	UTSW	8	82,679,463 (GRCm39)	splice site	probably null
R1465:Inpp4b	UTSW	8	82,494,786 (GRCm39)	missense	probably damaging	1.00
R1465:Inpp4b	UTSW	8	82,494,786 (GRCm39)	missense	probably damaging	1.00
R1647:Inpp4b	UTSW	8	82,583,403 (GRCm39)	splice site	probably benign
R1754:Inpp4b	UTSW	8	82,497,440 (GRCm39)	missense	probably damaging	1.00
R1759:Inpp4b	UTSW	8	82,494,732 (GRCm39)	missense	probably benign	0.06
R2085:Inpp4b	UTSW	8	82,678,903 (GRCm39)	missense	probably damaging	1.00
R2156:Inpp4b	UTSW	8	82,775,118 (GRCm39)	missense	probably damaging	1.00
R2160:Inpp4b	UTSW	8	82,848,004 (GRCm39)	nonsense	probably null
R2175:Inpp4b	UTSW	8	82,583,328 (GRCm39)	missense	probably damaging	1.00
R2191:Inpp4b	UTSW	8	82,723,931 (GRCm39)	missense	probably damaging	1.00
R2401:Inpp4b	UTSW	8	82,723,968 (GRCm39)	missense	probably benign	0.00
R2475:Inpp4b	UTSW	8	82,768,607 (GRCm39)	missense	probably benign	0.09
R2512:Inpp4b	UTSW	8	82,737,179 (GRCm39)	missense	probably damaging	1.00
R2919:Inpp4b	UTSW	8	82,711,958 (GRCm39)	missense	possibly damaging	0.93
R3021:Inpp4b	UTSW	8	82,629,467 (GRCm39)	missense	possibly damaging	0.47
R3423:Inpp4b	UTSW	8	82,678,890 (GRCm39)	missense	possibly damaging	0.63
R3777:Inpp4b	UTSW	8	82,768,621 (GRCm39)	missense	possibly damaging	0.89
R3778:Inpp4b	UTSW	8	82,768,621 (GRCm39)	missense	possibly damaging	0.89
R3794:Inpp4b	UTSW	8	82,759,845 (GRCm39)	missense	probably damaging	1.00
R3795:Inpp4b	UTSW	8	82,759,845 (GRCm39)	missense	probably damaging	1.00
R4590:Inpp4b	UTSW	8	82,468,040 (GRCm39)	start codon destroyed	probably null	1.00
R4602:Inpp4b	UTSW	8	82,696,164 (GRCm39)	missense	probably damaging	0.99
R4691:Inpp4b	UTSW	8	82,849,282 (GRCm39)	missense	probably damaging	1.00
R4924:Inpp4b	UTSW	8	82,849,253 (GRCm39)	missense	probably damaging	1.00
R4992:Inpp4b	UTSW	8	82,759,837 (GRCm39)	missense	probably damaging	1.00
R5219:Inpp4b	UTSW	8	82,610,785 (GRCm39)	missense	probably benign	0.01
R5228:Inpp4b	UTSW	8	82,494,744 (GRCm39)	missense	probably damaging	0.99
R5557:Inpp4b	UTSW	8	82,678,888 (GRCm39)	missense	probably damaging	0.99
R5627:Inpp4b	UTSW	8	82,470,445 (GRCm39)	critical splice donor site	probably benign
R5691:Inpp4b	UTSW	8	82,617,323 (GRCm39)	intron	probably benign
R6186:Inpp4b	UTSW	8	82,772,863 (GRCm39)	missense	probably damaging	0.99
R6213:Inpp4b	UTSW	8	82,724,019 (GRCm39)	missense	probably damaging	1.00
R6232:Inpp4b	UTSW	8	82,678,813 (GRCm39)	missense	probably damaging	1.00
R6283:Inpp4b	UTSW	8	82,497,462 (GRCm39)	missense	probably damaging	1.00
R6302:Inpp4b	UTSW	8	82,494,806 (GRCm39)	missense	probably benign	0.00
R6309:Inpp4b	UTSW	8	82,768,546 (GRCm39)	missense	probably damaging	1.00
R6360:Inpp4b	UTSW	8	82,629,481 (GRCm39)	missense	probably benign	0.20
R6477:Inpp4b	UTSW	8	82,571,343 (GRCm39)	splice site	probably null
R6773:Inpp4b	UTSW	8	82,583,249 (GRCm39)	intron	probably benign
R6968:Inpp4b	UTSW	8	82,571,086 (GRCm39)	missense	probably benign	0.18
R7147:Inpp4b	UTSW	8	82,629,400 (GRCm39)	missense	probably damaging	1.00
R7318:Inpp4b	UTSW	8	82,798,374 (GRCm39)	missense	probably damaging	1.00
R7409:Inpp4b	UTSW	8	82,679,314 (GRCm39)	splice site	probably null
R7455:Inpp4b	UTSW	8	82,798,332 (GRCm39)	missense	probably damaging	0.99
R7632:Inpp4b	UTSW	8	82,772,968 (GRCm39)	missense	probably damaging	1.00
R7844:Inpp4b	UTSW	8	82,467,949 (GRCm39)	start gained	probably benign
R7958:Inpp4b	UTSW	8	82,696,218 (GRCm39)	missense	probably damaging	1.00
R8440:Inpp4b	UTSW	8	82,768,524 (GRCm39)	missense	probably damaging	1.00
R9160:Inpp4b	UTSW	8	82,610,782 (GRCm39)	missense	possibly damaging	0.55
R9303:Inpp4b	UTSW	8	82,759,758 (GRCm39)	missense	probably damaging	1.00
R9390:Inpp4b	UTSW	8	82,497,522 (GRCm39)	missense	probably damaging	1.00
R9583:Inpp4b	UTSW	8	82,497,555 (GRCm39)	critical splice donor site	probably null
R9705:Inpp4b	UTSW	8	82,772,890 (GRCm39)	missense	probably benign	0.14
R9778:Inpp4b	UTSW	8	82,775,160 (GRCm39)	missense	probably benign
RF003:Inpp4b	UTSW	8	82,696,150 (GRCm39)	nonsense	probably null
Z1088:Inpp4b	UTSW	8	82,795,560 (GRCm39)	critical splice acceptor site	probably null
Z1176:Inpp4b	UTSW	8	82,795,630 (GRCm39)	missense	possibly damaging	0.60

Posted On

2015-04-16