Mutagenetix > Incidental Mutation

Incidental Mutation 'R7262:Itpk1'

564702

Institutional Source

Beutler Lab

Gene Symbol

Itpk1

Ensembl Gene

ENSMUSG00000057963

Gene Name

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

Synonyms

MMRRC Submission

045353-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R7262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102534842-102671128 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102641712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 37 (E37G)

Ref Sequence

ENSEMBL: ENSMUSP00000046027 (fasta)

Gene Model

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

AlphaFold

Q8BYN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046518
AA Change: E37G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046027
Gene: ENSMUSG00000057963
AA Change: E37G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178697
AA Change: E37G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137275
Gene: ENSMUSG00000057963
AA Change: E37G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179210

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,946,137 (GRCm39)		probably null	Het
Adh5	C	A	3: 138,151,133 (GRCm39)	A32D	possibly damaging	Het
Ap1m2	A	G	9: 21,213,762 (GRCm39)	I295T	possibly damaging	Het
B230104I21Rik	T	C	4: 154,434,091 (GRCm39)	S92P	unknown	Het
Carnmt1	A	T	19: 18,655,228 (GRCm39)	N127I	probably benign	Het
Ccdc42	A	G	11: 68,485,399 (GRCm39)	T106A	probably damaging	Het
Cdcp1	T	C	9: 123,002,680 (GRCm39)	E797G	probably damaging	Het
Cep112	T	A	11: 108,555,467 (GRCm39)	V821D	probably damaging	Het
Cpvl	A	T	6: 53,909,500 (GRCm39)	V212D	probably damaging	Het
Cttnbp2nl	A	T	3: 104,940,062 (GRCm39)	N2K	probably damaging	Het
Cyp2c69	T	C	19: 39,875,176 (GRCm39)		probably benign	Het
Cyp2u1	T	C	3: 131,091,605 (GRCm39)	D305G	probably damaging	Het
Dab2ip	A	G	2: 35,512,298 (GRCm39)		probably null	Het
Ddx55	T	C	5: 124,704,919 (GRCm39)	L396P	probably benign	Het
Dhx34	G	A	7: 15,937,623 (GRCm39)	A786V	probably benign	Het
Efcab3	G	A	11: 104,745,432 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,768,474 (GRCm39)	L943*	probably null	Het
Epm2aip1	A	G	9: 111,101,728 (GRCm39)	T234A	probably benign	Het
Flot2	T	C	11: 77,948,175 (GRCm39)	M145T	probably damaging	Het
Fn3k	T	C	11: 121,339,741 (GRCm39)	F168L	probably damaging	Het
Gmfb	A	T	14: 47,052,386 (GRCm39)	C87S	probably damaging	Het
H2-M3	T	C	17: 37,582,084 (GRCm39)	F180S	probably damaging	Het
Havcr2	C	T	11: 46,360,388 (GRCm39)	T205I	probably benign	Het
Hdac3	C	T	18: 38,078,616 (GRCm39)	C123Y	probably damaging	Het
Jmjd7	A	G	2: 119,862,467 (GRCm39)	H283R	probably benign	Het
Kif26b	T	C	1: 178,745,219 (GRCm39)	S1772P	possibly damaging	Het
Klhl6	T	C	16: 19,801,546 (GRCm39)	T70A	probably damaging	Het
Kntc1	C	A	5: 123,925,036 (GRCm39)	D1116E	probably benign	Het
Lama4	T	A	10: 38,970,930 (GRCm39)	H1498Q	probably damaging	Het
Lamp1	A	T	8: 13,217,296 (GRCm39)	T102S	probably benign	Het
Lrp8	A	G	4: 107,704,661 (GRCm39)	N168D	probably benign	Het
Ltbp1	G	T	17: 75,671,363 (GRCm39)	D1515Y	probably damaging	Het
Obscn	A	G	11: 59,006,715 (GRCm39)	V1149A	probably damaging	Het
Or10q1	A	T	19: 13,726,535 (GRCm39)	T22S	probably benign	Het
Or4f6	A	G	2: 111,838,902 (GRCm39)	S210P	probably damaging	Het
Or52ad1	T	C	7: 102,995,764 (GRCm39)	R124G	probably damaging	Het
Pak4	C	A	7: 28,264,625 (GRCm39)	M92I	possibly damaging	Het
Pam	T	C	1: 97,782,448 (GRCm39)	K157R		Het
Pcdh9	A	T	14: 93,253,141 (GRCm39)	V1174E	probably benign	Het
Phf8-ps	G	A	17: 33,285,971 (GRCm39)	T277I	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,069 (GRCm39)	D615G	probably benign	Het
Senp1	A	T	15: 97,964,379 (GRCm39)	D278E	probably benign	Het
Serpinc1	A	G	1: 160,817,229 (GRCm39)	N108D	probably damaging	Het
Srl	C	A	16: 4,315,415 (GRCm39)	A76S	probably damaging	Het
Tbc1d16	C	A	11: 119,045,921 (GRCm39)	V509L	probably benign	Het
Tbc1d24	A	G	17: 24,426,820 (GRCm39)	F357S	probably damaging	Het
Tcaf3	A	G	6: 42,570,735 (GRCm39)	L339P	probably damaging	Het
Tmem232	A	T	17: 65,807,112 (GRCm39)	I27N	probably benign	Het
Ubr2	T	C	17: 47,311,665 (GRCm39)	D62G	probably damaging	Het
Vcan	T	G	13: 89,853,280 (GRCm39)	D560A	possibly damaging	Het
Vmn2r80	T	A	10: 79,005,579 (GRCm39)	N405K	probably damaging	Het
Wdhd1	A	T	14: 47,489,430 (GRCm39)	I701K	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
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
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'- CCACTGTAACTTTCCAAACAGG -3'
(R):5'- CACCTTGTCCTTGAAAGGGG -3'

Sequencing Primer
(F):5'- CAGGAACAGCCAGCAGC -3'
(R):5'- CCTTGAAAGGGGGATCTTCTGAGC -3'

Posted On

2019-06-26