Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02247:Itpk1'

286234

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itpk1

Ensembl Gene

ENSMUSG00000057963

Gene Name

inositol 1,3,4-triphosphate 5/6 kinase

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.928) question?

Stock #

IGL02247

Quality Score

Status

Chromosome

Chromosomal Location

102568582-102704930 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102623409 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 74 (P74Q)

Ref Sequence

ENSEMBL: ENSMUSP00000137275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046518] [ENSMUST00000178697] [ENSMUST00000179210] [ENSMUST00000191320]

Predicted Effect

probably damaging
Transcript: ENSMUST00000046518
AA Change: P46Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046027
Gene: ENSMUSG00000057963
AA Change: P46Q

Domain	Start	End	E-Value	Type
Pfam:Ins134_P3_kin	1	318	2.8e-142	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178697
AA Change: P74Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137275
Gene: ENSMUSG00000057963
AA Change: P74Q

Domain	Start	End	E-Value	Type
Pfam:Ins134_P3_kin	1	48	1.4e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178938

Predicted Effect

probably benign
Transcript: ENSMUST00000179210

Predicted Effect

probably benign
Transcript: ENSMUST00000191320

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]
PHENOTYPE: Some mice homozygous for a gene trap allele exhibit neural tube defects (exencephaly and spina bifida), growth retardation, kyphoscoliosis, and rib formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 27,084,893	R177G	probably damaging	Het
Ap3b1	T	C	13: 94,394,795		probably null	Het
Ascc3	A	C	10: 50,650,590	K595T	probably damaging	Het
Cnpy4	A	G	5: 138,192,863	T234A	probably benign	Het
Col13a1	T	C	10: 61,961,345	Y101C	probably damaging	Het
Crybg3	A	G	16: 59,503,150	I2809T	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dgkz	T	C	2: 91,937,460	S824G	probably benign	Het
Dsg1c	T	A	18: 20,264,316	I27N	probably damaging	Het
Efhb	C	T	17: 53,401,624	V673I	probably benign	Het
Egr1	T	C	18: 34,862,863	Y233H	possibly damaging	Het
Fam184a	T	C	10: 53,675,160	E237G	probably damaging	Het
Galt	A	G	4: 41,755,623		probably benign	Het
Gm4795	T	C	10: 45,007,115		noncoding transcript	Het
Gm6563	G	A	19: 23,676,028	E61K	possibly damaging	Het
Igkv1-133	G	A	6: 67,725,606	V103M	probably damaging	Het
Iqcb1	T	A	16: 36,839,896	H140Q	probably benign	Het
Itpr3	T	A	17: 27,098,179	W803R	probably damaging	Het
Lgr4	C	T	2: 110,008,075		probably benign	Het
Lgr4	A	T	2: 110,002,501	D312V	probably benign	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mllt6	C	A	11: 97,670,332	A282E	probably benign	Het
Mtif2	T	C	11: 29,540,642	S449P	possibly damaging	Het
Nrg3	T	C	14: 38,371,312	I533M	probably damaging	Het
Nynrin	C	T	14: 55,871,710	Q1425*	probably null	Het
Olfr1148	A	G	2: 87,833,529	I163M	probably damaging	Het
Olfr1184	C	T	2: 88,487,427	H232Y	probably benign	Het
Olfr1469	T	A	19: 13,411,467	S299R	probably benign	Het
Olfr397	A	T	11: 73,964,862	M85L	probably benign	Het
Olfr679	T	A	7: 105,086,323	Y202*	probably null	Het
Olfr733	T	A	14: 50,299,114	N65I	probably damaging	Het
Olfr869	G	A	9: 20,137,220	V35I	probably benign	Het
Plcb4	C	T	2: 135,994,325	T20I	possibly damaging	Het
Ppp1r12b	G	T	1: 134,835,983	T771K	probably benign	Het
Prss22	T	C	17: 23,996,389	T138A	probably benign	Het
Ros1	A	T	10: 52,129,581	S907T	probably damaging	Het
Rtel1	T	A	2: 181,351,341	Y521*	probably null	Het
Sacs	T	C	14: 61,192,535	F678S	probably damaging	Het
Smtnl1	A	T	2: 84,817,028		probably benign	Het
Sumf2	T	C	5: 129,860,145	V258A	probably damaging	Het
Tas1r2	A	T	4: 139,669,516	Y722F	probably damaging	Het
Tecpr1	A	G	5: 144,206,554	F668L	possibly damaging	Het
Timd4	T	C	11: 46,815,731	F120S	probably damaging	Het
Tnnt3	T	C	7: 142,508,325		probably benign	Het
Trp53bp1	G	A	2: 121,236,589	S552F	probably damaging	Het
Txlnb	G	A	10: 17,830,342	R333Q	possibly damaging	Het
Txlnb	A	G	10: 17,841,528		probably benign	Het
Uroc1	A	G	6: 90,347,928	E461G	probably benign	Het
Vps45	G	A	3: 96,042,924	T231I	probably damaging	Het
Zfp648	T	A	1: 154,204,177	S27R	probably benign	Het

Other mutations in Itpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Itpk1	APN	12	102606103	missense	probably damaging	1.00
IGL02998:Itpk1	APN	12	102579139	missense	probably damaging	1.00
ANU23:Itpk1	UTSW	12	102606103	missense	probably damaging	1.00
R0432:Itpk1	UTSW	12	102606078	splice site	probably benign
R0622:Itpk1	UTSW	12	102573980	missense	probably damaging	1.00
R0659:Itpk1	UTSW	12	102606078	splice site	probably benign
R0835:Itpk1	UTSW	12	102675448	missense	probably damaging	1.00
R1171:Itpk1	UTSW	12	102606119	missense	probably damaging	1.00
R1812:Itpk1	UTSW	12	102574058	missense	probably benign	0.01
R1968:Itpk1	UTSW	12	102675470	splice site	probably null
R2277:Itpk1	UTSW	12	102570260	missense	probably benign
R2926:Itpk1	UTSW	12	102579130	missense	probably damaging	1.00
R4584:Itpk1	UTSW	12	102570157	missense	possibly damaging	0.89
R4690:Itpk1	UTSW	12	102606175	missense	probably damaging	0.96
R5050:Itpk1	UTSW	12	102704810	missense	probably damaging	1.00
R5326:Itpk1	UTSW	12	102573966	missense	possibly damaging	0.49
R5801:Itpk1	UTSW	12	102573945	missense	probably damaging	1.00
R5945:Itpk1	UTSW	12	102588553	missense	probably damaging	0.97
R7262:Itpk1	UTSW	12	102675453	missense	possibly damaging	0.89
R7421:Itpk1	UTSW	12	102574065	missense	possibly damaging	0.92
R7883:Itpk1	UTSW	12	102606175	missense	probably benign	0.35
R8438:Itpk1	UTSW	12	102606159	start gained	probably benign
X0058:Itpk1	UTSW	12	102574024	missense	probably damaging	0.99

Posted On

2015-04-16