Mutagenetix > Incidental Mutation

Incidental Mutation 'R0659:Itpk1'

61798

Institutional Source

Beutler Lab

Gene Symbol

Itpk1

Ensembl Gene

ENSMUSG00000057963

Gene Name

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

Synonyms

MMRRC Submission

038844-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R0659 (G1)

Quality Score

128

Status

Validated

Chromosome

Chromosomal Location

102534842-102671128 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 102572337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139394 (fasta)

Gene Model

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

AlphaFold

Q8BYN3

Predicted Effect

probably benign
Transcript: ENSMUST00000046518

SMART Domains

Protein: ENSMUSP00000046027
Gene: ENSMUSG00000057963

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179210

Predicted Effect

probably benign
Transcript: ENSMUST00000191320

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.6%

Validation Efficiency

99% (72/73)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,140,565 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,992,366 (GRCm39)	H4550R	possibly damaging	Het
Anxa6	A	G	11: 54,874,173 (GRCm39)	V591A	probably damaging	Het
Apol7c	A	G	15: 77,410,473 (GRCm39)	S158P	probably damaging	Het
Asxl1	T	A	2: 153,242,644 (GRCm39)	S1065T	possibly damaging	Het
Cacna2d4	A	G	6: 119,322,067 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,587,452 (GRCm39)		probably benign	Het
Cep78	C	T	19: 15,933,554 (GRCm39)	V675M	probably damaging	Het
Ces4a	T	C	8: 105,871,554 (GRCm39)		probably benign	Het
Chpf	A	G	1: 75,454,367 (GRCm39)	V137A	probably damaging	Het
Comp	T	C	8: 70,831,751 (GRCm39)	S457P	possibly damaging	Het
Cth	A	G	3: 157,625,752 (GRCm39)		probably benign	Het
Cyp2a12	T	C	7: 26,733,563 (GRCm39)	L314P	probably damaging	Het
Ets1	C	T	9: 32,649,589 (GRCm39)	R309C	probably damaging	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gm9875	T	G	2: 13,562,995 (GRCm39)	F108V	unknown	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Greb1	T	C	12: 16,730,213 (GRCm39)	Y1738C	probably damaging	Het
Grin2a	G	T	16: 9,810,336 (GRCm39)	P21Q	probably damaging	Het
Hdac5	A	T	11: 102,086,850 (GRCm39)	V70E	probably damaging	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hsd17b3	T	C	13: 64,221,750 (GRCm39)	T92A	possibly damaging	Het
Lin28a	T	C	4: 133,735,410 (GRCm39)		probably benign	Het
Mapk6	T	C	9: 75,305,244 (GRCm39)	S58G	probably damaging	Het
Mmp21	G	A	7: 133,279,396 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mroh2a	G	A	1: 88,178,064 (GRCm39)	D1053N	probably damaging	Het
Msh3	T	C	13: 92,481,604 (GRCm39)	N303D	possibly damaging	Het
Mto1	C	T	9: 78,378,072 (GRCm39)	T638M	probably damaging	Het
Mto1	T	A	9: 78,364,790 (GRCm39)	I343N	probably damaging	Het
Myo18b	T	C	5: 112,908,193 (GRCm39)	K2027E	possibly damaging	Het
Myo7a	T	C	7: 97,703,545 (GRCm39)		probably benign	Het
Nlrp9a	T	C	7: 26,256,703 (GRCm39)	I107T	probably damaging	Het
Or5k17	C	A	16: 58,746,772 (GRCm39)	R54L	possibly damaging	Het
Or8g37	T	G	9: 39,731,112 (GRCm39)	M59R	possibly damaging	Het
Osbpl5	A	G	7: 143,258,767 (GRCm39)	S268P	probably damaging	Het
Pih1d1	T	A	7: 44,809,399 (GRCm39)	S289T	probably benign	Het
Pik3c2b	A	G	1: 132,998,938 (GRCm39)	D353G	probably damaging	Het
Ppef2	A	G	5: 92,378,368 (GRCm39)	L609P	probably damaging	Het
Prune2	A	T	19: 17,100,199 (GRCm39)	D1901V	probably damaging	Het
Rdh9	T	C	10: 127,612,444 (GRCm39)	Y31H	possibly damaging	Het
Slc5a9	T	A	4: 111,741,068 (GRCm39)	Y526F	possibly damaging	Het
Slitrk5	A	G	14: 111,918,121 (GRCm39)	K582E	probably benign	Het
Sult1c2	A	T	17: 54,138,806 (GRCm39)	M257K	probably damaging	Het
Tasor2	T	C	13: 3,624,448 (GRCm39)	D1834G	probably damaging	Het
Tmem132d	A	G	5: 128,061,351 (GRCm39)	I417T	possibly damaging	Het
Tmem229b	T	C	12: 79,011,908 (GRCm39)	T8A	probably benign	Het
Tmem237	T	C	1: 59,153,253 (GRCm39)	I89M	possibly damaging	Het
Tnfrsf17	A	T	16: 11,137,683 (GRCm39)	D140V	probably damaging	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Trio	A	G	15: 27,831,485 (GRCm39)	L194P	probably damaging	Het
Vmn2r74	T	C	7: 85,605,122 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,828,217 (GRCm39)	M1457K	probably benign	Het
Zfhx2	A	G	14: 55,311,258 (GRCm39)	C479R	possibly damaging	Het
Zfp420	T	A	7: 29,574,964 (GRCm39)	C395S	probably damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zranb2	A	G	3: 157,247,400 (GRCm39)	S193G	probably benign	Het

Other mutations in Itpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Itpk1	APN	12	102,572,362 (GRCm39)	missense	probably damaging	1.00
IGL02247:Itpk1	APN	12	102,589,668 (GRCm39)	missense	probably damaging	1.00
IGL02998:Itpk1	APN	12	102,545,398 (GRCm39)	missense	probably damaging	1.00
ANU23:Itpk1	UTSW	12	102,572,362 (GRCm39)	missense	probably damaging	1.00
R0432:Itpk1	UTSW	12	102,572,337 (GRCm39)	splice site	probably benign
R0622:Itpk1	UTSW	12	102,540,239 (GRCm39)	missense	probably damaging	1.00
R0835:Itpk1	UTSW	12	102,641,707 (GRCm39)	missense	probably damaging	1.00
R1171:Itpk1	UTSW	12	102,572,378 (GRCm39)	missense	probably damaging	1.00
R1812:Itpk1	UTSW	12	102,540,317 (GRCm39)	missense	probably benign	0.01
R1968:Itpk1	UTSW	12	102,641,729 (GRCm39)	splice site	probably null
R2277:Itpk1	UTSW	12	102,536,519 (GRCm39)	missense	probably benign
R2926:Itpk1	UTSW	12	102,545,389 (GRCm39)	missense	probably damaging	1.00
R4584:Itpk1	UTSW	12	102,536,416 (GRCm39)	missense	possibly damaging	0.89
R4690:Itpk1	UTSW	12	102,572,434 (GRCm39)	missense	probably damaging	0.96
R5050:Itpk1	UTSW	12	102,671,069 (GRCm39)	missense	probably damaging	1.00
R5326:Itpk1	UTSW	12	102,540,225 (GRCm39)	missense	possibly damaging	0.49
R5801:Itpk1	UTSW	12	102,540,204 (GRCm39)	missense	probably damaging	1.00
R5945:Itpk1	UTSW	12	102,554,812 (GRCm39)	missense	probably damaging	0.97
R7262:Itpk1	UTSW	12	102,641,712 (GRCm39)	missense	possibly damaging	0.89
R7421:Itpk1	UTSW	12	102,540,324 (GRCm39)	missense	possibly damaging	0.92
R7883:Itpk1	UTSW	12	102,572,434 (GRCm39)	missense	probably benign	0.35
R8438:Itpk1	UTSW	12	102,572,418 (GRCm39)	start gained	probably benign
R8886:Itpk1	UTSW	12	102,550,604 (GRCm39)	unclassified	probably benign
R8947:Itpk1	UTSW	12	102,536,582 (GRCm39)	missense	probably benign	0.10
R9137:Itpk1	UTSW	12	102,540,291 (GRCm39)	missense	probably benign	0.00
R9716:Itpk1	UTSW	12	102,572,347 (GRCm39)	critical splice donor site	probably null
X0058:Itpk1	UTSW	12	102,540,283 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAGCCAGAATAGCTCTCCTCAAAG -3'
(R):5'- AATGCCCTTGTCACAGCATAGCC -3'

Sequencing Primer
(F):5'- CAAAGCATCCTCTGGCTTATG -3'
(R):5'- GTCACAGCATAGCCCCCTC -3'

Posted On

2013-07-30