Mutagenetix > Incidental Mutation

Incidental Mutation 'R2926:Itpk1'

255776

Institutional Source

Beutler Lab

Gene Symbol

Itpk1

Ensembl Gene

ENSMUSG00000057963

Gene Name

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

Synonyms

MMRRC Submission

040511-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R2926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102534842-102671128 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102545389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 238 (P238Q)

Ref Sequence

ENSEMBL: ENSMUSP00000046027 (fasta)

Gene Model

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

AlphaFold

Q8BYN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000046518
AA Change: P238Q

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

SMART Domains

Protein: ENSMUSP00000046027
Gene: ENSMUSG00000057963
AA Change: P238Q

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

Meta Mutation Damage Score

0.1469

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	T	5: 124,216,902 (GRCm39)	S438R	possibly damaging	Het
Add3	A	G	19: 53,215,253 (GRCm39)		probably null	Het
Adgrb2	T	C	4: 129,902,137 (GRCm39)	L506P	probably damaging	Het
Atp6v0a1	A	T	11: 100,934,774 (GRCm39)	I621L	probably damaging	Het
Calb1	T	G	4: 15,904,302 (GRCm39)	L218R	probably damaging	Het
Ccdc162	G	A	10: 41,437,203 (GRCm39)		probably benign	Het
Ccser2	A	T	14: 36,601,518 (GRCm39)	S842T	possibly damaging	Het
Cd300a	A	G	11: 114,784,139 (GRCm39)	E49G	possibly damaging	Het
Colec11	T	A	12: 28,667,428 (GRCm39)	Q37L	probably damaging	Het
D630045J12Rik	T	A	6: 38,145,106 (GRCm39)	I1307F	probably damaging	Het
Dapk1	T	C	13: 60,867,564 (GRCm39)	V257A	possibly damaging	Het
Dnah3	T	A	7: 119,550,338 (GRCm39)	N3327I	probably damaging	Het
Gja8	C	T	3: 96,826,469 (GRCm39)	V398I	probably benign	Het
Hfm1	A	T	5: 107,022,148 (GRCm39)	L179*	probably null	Het
Hsd3b9	A	G	3: 98,357,872 (GRCm39)		probably benign	Het
Ift88	T	C	14: 57,726,375 (GRCm39)	Y678H	probably damaging	Het
Itga10	A	G	3: 96,560,165 (GRCm39)	N560D	probably damaging	Het
Kl	T	C	5: 150,876,806 (GRCm39)	W209R	probably damaging	Het
Lama4	A	G	10: 38,954,828 (GRCm39)	N1127S	probably benign	Het
Lrp1	C	T	10: 127,423,982 (GRCm39)	C830Y	probably damaging	Het
Mcmbp	G	A	7: 128,299,738 (GRCm39)		probably benign	Het
Mrps33	A	G	6: 39,782,438 (GRCm39)	S28P	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Myt1	C	T	2: 181,467,803 (GRCm39)	T1079M	possibly damaging	Het
N4bp1	A	T	8: 87,588,424 (GRCm39)	Y171*	probably null	Het
Ncln	G	T	10: 81,324,272 (GRCm39)	T442K	probably benign	Het
Nphp4	T	C	4: 152,602,596 (GRCm39)	V390A	probably damaging	Het
Ntrk2	C	A	13: 59,208,098 (GRCm39)	T648K	probably damaging	Het
Nwd1	A	G	8: 73,393,640 (GRCm39)	H301R	probably damaging	Het
Or4k5	A	T	14: 50,385,893 (GRCm39)	V146E	probably benign	Het
Pcdh12	T	C	18: 38,415,443 (GRCm39)	N561D	probably damaging	Het
Pcnx1	T	A	12: 82,041,769 (GRCm39)	S2134T	probably damaging	Het
Ppp1cc	G	A	5: 122,312,151 (GRCm39)	A306T	probably benign	Het
Pramel3e	G	T	X: 134,400,297 (GRCm39)	A96S	possibly damaging	Het
Prrc2c	C	T	1: 162,533,696 (GRCm39)		probably benign	Het
Rabggta	C	T	14: 55,956,747 (GRCm39)	R319H	probably benign	Het
Scn10a	A	C	9: 119,467,767 (GRCm39)	F791C	possibly damaging	Het
Stab1	T	A	14: 30,883,756 (GRCm39)	D267V	probably damaging	Het
Sva	A	T	6: 42,019,596 (GRCm39)	Y152F	possibly damaging	Het
Tgfbrap1	T	G	1: 43,114,789 (GRCm39)	M104L	probably damaging	Het
Tmed4	T	C	11: 6,221,728 (GRCm39)	T203A	probably benign	Het
Toe1	C	T	4: 116,662,177 (GRCm39)	A331T	possibly damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trpm7	T	C	2: 126,700,329 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,636,170 (GRCm39)	R438*	probably null	Het
Usp11	G	T	X: 20,584,031 (GRCm39)	G601W	probably damaging	Het
Vmn2r112	A	G	17: 22,833,984 (GRCm39)	T551A	possibly damaging	Het
Vmn2r73	T	C	7: 85,520,871 (GRCm39)	K366E	probably benign	Het
Vps33a	A	G	5: 123,707,634 (GRCm39)	I111T	possibly 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
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'- GCAAGCTGACTCACTGAAAG -3'
(R):5'- GACAAATTGAAGCCGGGATCC -3'

Sequencing Primer
(F):5'- ATTGTGTGGGCCCTTCTA -3'
(R):5'- CCTGATGGATGCACATCTCTATG -3'

Posted On

2014-12-29