Mutagenetix > Incidental Mutation

Incidental Mutation 'R0432:Itpk1'

38859

Institutional Source

Beutler Lab

Gene Symbol

Itpk1

Ensembl Gene

ENSMUSG00000057963

Gene Name

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

Synonyms

MMRRC Submission

038634-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R0432 (G1)

Quality Score

225

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: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

99% (91/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 36,206,708 (GRCm39)	L110P	probably damaging	Het
4930522L14Rik	A	T	5: 109,884,785 (GRCm39)	C358S	probably damaging	Het
Abca8b	C	A	11: 109,870,841 (GRCm39)	V104F	possibly damaging	Het
Afap1l2	T	C	19: 56,905,551 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,611,726 (GRCm39)	I548R	probably damaging	Het
Alox12b	G	T	11: 69,060,382 (GRCm39)	G646V	probably damaging	Het
Aoah	C	T	13: 21,095,368 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Atxn1l	A	G	8: 110,458,325 (GRCm39)	W646R	probably damaging	Het
Cabp2	T	C	19: 4,134,903 (GRCm39)	I28T	possibly damaging	Het
Cacna1b	G	A	2: 24,577,716 (GRCm39)	T719I	probably damaging	Het
Camk1d	A	T	2: 5,449,946 (GRCm39)	H70Q	probably damaging	Het
Car1	T	C	3: 14,835,236 (GRCm39)	T170A	probably benign	Het
Ccdc162	T	C	10: 41,417,856 (GRCm39)	T2113A	probably benign	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cdh17	T	A	4: 11,771,273 (GRCm39)	C18*	probably null	Het
Cdk17	A	T	10: 93,073,652 (GRCm39)		probably benign	Het
Chd9	T	A	8: 91,721,078 (GRCm39)		probably benign	Het
Chrm5	T	A	2: 112,310,000 (GRCm39)	K372M	possibly damaging	Het
Clasp2	A	G	9: 113,738,487 (GRCm39)	T423A	probably benign	Het
Col11a1	A	G	3: 113,999,550 (GRCm39)		probably benign	Het
Col27a1	T	C	4: 63,143,848 (GRCm39)	M512T	possibly damaging	Het
Dclk3	A	G	9: 111,314,003 (GRCm39)	D693G	probably damaging	Het
Dcun1d3	T	A	7: 119,457,173 (GRCm39)	K180*	probably null	Het
Dmxl2	T	C	9: 54,324,235 (GRCm39)	R876G	probably benign	Het
Dnmbp	A	T	19: 43,843,296 (GRCm39)	Y432*	probably null	Het
Elapor2	G	T	5: 9,490,966 (GRCm39)	G659*	probably null	Het
Eml2	C	T	7: 18,913,456 (GRCm39)	Q125*	probably null	Het
Faap100	A	C	11: 120,264,702 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gda	A	G	19: 21,394,471 (GRCm39)	Y129H	probably damaging	Het
Gga3	G	A	11: 115,481,350 (GRCm39)	R207C	probably damaging	Het
Glg1	T	C	8: 111,909,201 (GRCm39)	I496M	probably damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10322	A	T	10: 59,452,030 (GRCm39)	H49L	possibly damaging	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Gramd2b	G	A	18: 56,607,141 (GRCm39)	C85Y	probably benign	Het
Grhl1	C	T	12: 24,632,918 (GRCm39)	P153L	probably benign	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hdlbp	T	C	1: 93,353,054 (GRCm39)	I414V	probably damaging	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Lipe	G	A	7: 25,097,913 (GRCm39)	P10L	probably benign	Het
Lrrc8a	A	G	2: 30,147,079 (GRCm39)	E631G	probably damaging	Het
Lvrn	T	A	18: 47,038,366 (GRCm39)	N973K	possibly damaging	Het
Man2c1	T	A	9: 57,042,881 (GRCm39)	H250Q	probably damaging	Het
Mup3	T	C	4: 62,003,519 (GRCm39)	T117A	probably benign	Het
Myo6	A	C	9: 80,181,256 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,983,951 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,770 (GRCm39)	N157K	probably damaging	Het
Or4p7	C	T	2: 88,222,377 (GRCm39)	T262I	probably damaging	Het
Or5an1	T	A	19: 12,261,267 (GRCm39)	M285K	probably damaging	Het
Or5m12	T	A	2: 85,734,501 (GRCm39)	N299I	probably damaging	Het
Or5w14	G	A	2: 87,541,774 (GRCm39)	H159Y	probably benign	Het
Or9m1	T	C	2: 87,733,304 (GRCm39)	T239A	probably damaging	Het
P4ha1	T	A	10: 59,184,079 (GRCm39)	Y180*	probably null	Het
Pcdhb19	T	A	18: 37,632,588 (GRCm39)	F794L	probably benign	Het
Pdxdc1	T	A	16: 13,672,264 (GRCm39)	I379F	probably damaging	Het
Psme3	T	A	11: 101,211,268 (GRCm39)	S185T	possibly damaging	Het
Ptgr1	A	G	4: 58,978,045 (GRCm39)	S116P	probably damaging	Het
Ptpn23	A	T	9: 110,218,078 (GRCm39)		probably null	Het
Rabgap1l	A	C	1: 160,549,775 (GRCm39)	I277R	probably benign	Het
Rapgef1	C	T	2: 29,569,828 (GRCm39)	T93I	possibly damaging	Het
Rbp3	A	T	14: 33,676,730 (GRCm39)	D226V	probably damaging	Het
Rnf144a	A	T	12: 26,389,328 (GRCm39)	C38S	probably damaging	Het
Rptor	C	T	11: 119,671,379 (GRCm39)	Q281*	probably null	Het
Rragd	T	C	4: 33,004,332 (GRCm39)	L208S	probably damaging	Het
Slc12a4	T	C	8: 106,686,120 (GRCm39)	E41G	probably damaging	Het
Slc16a1	G	T	3: 104,560,735 (GRCm39)	V347F	probably benign	Het
Slit1	G	A	19: 41,731,732 (GRCm39)	T39I	probably damaging	Het
Sra1	T	C	18: 36,810,556 (GRCm39)	N98S	probably benign	Het
Ssx2ip	T	C	3: 146,132,184 (GRCm39)	L215P	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Tep1	TTTCTTCTTCTT	TTTCTTCTT	14: 51,104,280 (GRCm39)		probably benign	Het
Tgfbi	T	C	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem232	T	C	17: 65,563,498 (GRCm39)	M632V	probably damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnnt3	T	G	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Tpsab1	A	G	17: 25,562,798 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,351,505 (GRCm39)	V1431D	probably damaging	Het
Wdr49	G	T	3: 75,357,329 (GRCm39)	R285S	possibly damaging	Het
Wdr7	A	G	18: 63,929,320 (GRCm39)	Y1052C	probably damaging	Het
Zan	A	T	5: 137,380,578 (GRCm39)		probably benign	Het
Zfp652	G	A	11: 95,654,565 (GRCm39)	V323I	possibly 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
Zfp874b	A	G	13: 67,629,955 (GRCm39)	S10P	probably damaging	Het
Zmynd19	A	G	2: 24,848,134 (GRCm39)	Y110C	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
R0622:Itpk1	UTSW	12	102,540,239 (GRCm39)	missense	probably damaging	1.00
R0659:Itpk1	UTSW	12	102,572,337 (GRCm39)	splice site	probably benign
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

2013-05-23