Mutagenetix > Incidental Mutation

Incidental Mutation 'R5801:Itpk1'

448373

Institutional Source

Beutler Lab

Gene Symbol

Itpk1

Ensembl Gene

ENSMUSG00000057963

Gene Name

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

Synonyms

MMRRC Submission

043390-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R5801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102534842-102671128 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102540204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 293 (V293A)

Ref Sequence

ENSEMBL: ENSMUSP00000046027 (fasta)

Gene Model

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

AlphaFold

Q8BYN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000046518
AA Change: V293A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046027
Gene: ENSMUSG00000057963
AA Change: V293A

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

Meta Mutation Damage Score

0.6295

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	T	A	4: 144,430,206 (GRCm39)	D261V	probably damaging	Het
Adam15	C	T	3: 89,249,668 (GRCm39)	V667I	probably damaging	Het
Adamts14	T	C	10: 61,038,775 (GRCm39)	S912G	probably damaging	Het
Adamts20	C	A	15: 94,245,551 (GRCm39)	E584*	probably null	Het
Ago3	A	T	4: 126,265,561 (GRCm39)	N284K	possibly damaging	Het
Alx3	T	A	3: 107,512,257 (GRCm39)	Y298*	probably null	Het
Arhgap32	A	G	9: 32,167,084 (GRCm39)	I574V	probably benign	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Caskin2	T	C	11: 115,694,299 (GRCm39)	D400G	probably damaging	Het
Cdc73	T	A	1: 143,484,281 (GRCm39)	H525L	probably benign	Het
Cep135	A	G	5: 76,778,523 (GRCm39)	E674G	probably damaging	Het
Cic	G	A	7: 24,970,863 (GRCm39)	R198Q	possibly damaging	Het
Col5a2	T	C	1: 45,428,641 (GRCm39)		probably null	Het
Col6a5	A	G	9: 105,825,566 (GRCm39)	V9A	unknown	Het
Cpsf7	A	T	19: 10,516,996 (GRCm39)	D366V	probably benign	Het
Cuedc2	T	C	19: 46,319,796 (GRCm39)	E173G	probably damaging	Het
D5Ertd579e	T	C	5: 36,761,913 (GRCm39)	E1318G	probably damaging	Het
Ddx55	T	C	5: 124,704,560 (GRCm39)		probably null	Het
Dennd1b	T	A	1: 138,967,727 (GRCm39)		probably null	Het
Dpy19l3	T	C	7: 35,424,723 (GRCm39)	T111A	probably benign	Het
Edn1	C	A	13: 42,460,282 (GRCm39)	A179E	probably benign	Het
Eif2b1	T	C	5: 124,712,775 (GRCm39)		probably null	Het
Epha5	A	G	5: 84,479,085 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,783 (GRCm39)	N466I	probably damaging	Het
Ermp1	A	G	19: 29,590,228 (GRCm39)	F825L	probably damaging	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fbxo41	G	T	6: 85,461,515 (GRCm39)	F64L	probably damaging	Het
Gabrb2	T	C	11: 42,312,216 (GRCm39)	S14P	probably benign	Het
Gm6505	A	T	3: 28,819,116 (GRCm39)		noncoding transcript	Het
Ighv1-18	T	A	12: 114,646,328 (GRCm39)	D91V	probably damaging	Het
Imp3	A	G	9: 56,845,086 (GRCm39)	D99G	probably benign	Het
Iqub	T	C	6: 24,449,768 (GRCm39)	K699R	probably benign	Het
Lrrc49	A	T	9: 60,509,916 (GRCm39)	F157L	probably damaging	Het
Mapk1ip1	T	A	7: 138,438,239 (GRCm39)	T64S	possibly damaging	Het
Mrpl9	T	C	3: 94,355,103 (GRCm39)	L225P	possibly damaging	Het
Ms4a14	A	G	19: 11,279,150 (GRCm39)	L1136S	possibly damaging	Het
Ms4a14	A	T	19: 11,279,246 (GRCm39)	I1104K	possibly damaging	Het
Nkain2	T	C	10: 32,278,264 (GRCm39)	T54A	probably damaging	Het
Ociad2	A	G	5: 73,483,642 (GRCm39)	F60S	probably damaging	Het
Or1e1f	T	C	11: 73,855,772 (GRCm39)	F113L	probably benign	Het
Polk	T	A	13: 96,620,094 (GRCm39)	H723L	probably damaging	Het
Prickle4	C	A	17: 47,999,698 (GRCm39)	R285L	possibly damaging	Het
Psmd2	A	G	16: 20,473,672 (GRCm39)	N121S	probably damaging	Het
Rab11fip5	T	A	6: 85,314,582 (GRCm39)	S1212C	probably damaging	Het
Rasgef1c	T	G	11: 49,860,883 (GRCm39)	M266R	probably damaging	Het
Rpusd4	A	G	9: 35,181,369 (GRCm39)	E155G	possibly damaging	Het
Rrbp1	A	G	2: 143,831,703 (GRCm39)	S155P	probably damaging	Het
Safb2	T	C	17: 56,870,103 (GRCm39)	Y991C	possibly damaging	Het
Shank1	G	A	7: 44,006,240 (GRCm39)	E1986K	possibly damaging	Het
Slc22a14	A	G	9: 119,001,149 (GRCm39)	F482L	probably benign	Het
Slc35e3	T	A	10: 117,581,767 (GRCm39)	M109L	probably benign	Het
Slco4c1	T	C	1: 96,799,809 (GRCm39)	N9S	probably damaging	Het
Slco6b1	C	T	1: 96,875,356 (GRCm39)		noncoding transcript	Het
Sptan1	A	G	2: 29,920,613 (GRCm39)		probably null	Het
Sptlc2	T	C	12: 87,388,545 (GRCm39)		probably null	Het
Stk10	C	T	11: 32,546,748 (GRCm39)	P335L	probably benign	Het
Strip1	A	C	3: 107,528,757 (GRCm39)	L391R	possibly damaging	Het
Tacr1	T	A	6: 82,534,134 (GRCm39)	S387T	probably benign	Het
Thbs2	A	T	17: 14,908,125 (GRCm39)	F213I	probably damaging	Het
Thbs3	A	T	3: 89,131,704 (GRCm39)	Y692F	probably benign	Het
Tktl2	C	A	8: 66,966,299 (GRCm39)	A619E	probably benign	Het
Tmc3	A	T	7: 83,271,686 (GRCm39)	E946V	possibly damaging	Het
Tmem132d	A	G	5: 127,861,964 (GRCm39)	V719A	possibly damaging	Het
Trpa1	T	C	1: 14,968,302 (GRCm39)	H488R	probably damaging	Het
Tsfm	TCACTCC	TCACTCCACTCC	10: 126,858,706 (GRCm39)		probably null	Het
Wdr35	A	G	12: 9,056,723 (GRCm39)	T503A	possibly damaging	Het
Zfp109	T	C	7: 23,928,126 (GRCm39)	K436E	probably damaging	Het
Zfp423	A	G	8: 88,585,990 (GRCm39)	Y78H	probably damaging	Het
Zfp970	A	G	2: 177,165,151 (GRCm39)	K26E	probably damaging	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
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'- TACCTCCCCAGACAGGTATC -3'
(R):5'- TGGTACCTTAGCCACAAAAGC -3'

Sequencing Primer
(F):5'- AGACAGGTATCTGGGGCTTCAC -3'
(R):5'- CACAAAAGCCTGACCTGTGTATGTG -3'

Posted On

2016-12-15