Mutagenetix > Incidental Mutations

Incidental Mutation 'R1968:Itpk1'

219280

Institutional Source

Beutler Lab

Gene Symbol

Itpk1

Ensembl Gene

ENSMUSG00000057963

Gene Name

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

Synonyms

MMRRC Submission

039981-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R1968 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

102568582-102704930 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 102675470 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136931 (fasta)

Gene Model

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

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000178129

Predicted Effect

probably null
Transcript: ENSMUST00000178697

SMART Domains

Protein: ENSMUSP00000137275
Gene: ENSMUSG00000057963

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

Predicted Effect

probably null
Transcript: ENSMUST00000178697

SMART Domains

Protein: ENSMUSP00000137275
Gene: ENSMUSG00000057963

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

Predicted Effect

probably null
Transcript: ENSMUST00000179210

Predicted Effect

probably null
Transcript: ENSMUST00000179210

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,322,199	L528Q	probably damaging	Het
Adam18	T	A	8: 24,646,447	T353S	probably benign	Het
Aldh1a3	A	G	7: 66,411,500		probably null	Het
Aldh3b2	T	A	19: 3,980,705	M390K	probably benign	Het
Arhgap45	T	C	10: 80,027,702	I793T	probably damaging	Het
Arsb	A	G	13: 93,807,559	M253V	probably benign	Het
Atcay	T	C	10: 81,212,478	D258G	possibly damaging	Het
Atf1	G	T	15: 100,254,514		probably null	Het
Atp1a4	C	T	1: 172,240,164	E511K	probably benign	Het
Atp8a1	A	G	5: 67,667,657	V777A	probably benign	Het
Baz1a	T	C	12: 54,900,337	T1173A	possibly damaging	Het
Bdh2	A	T	3: 135,285,609	D15V	probably benign	Het
Cacna1e	T	C	1: 154,700,494	Y69C	probably damaging	Het
Caskin2	A	G	11: 115,803,614	L387P	probably benign	Het
Cat	T	C	2: 103,484,989	E17G	probably benign	Het
Ccdc15	T	C	9: 37,347,795	I54M	probably benign	Het
Cdhr1	T	G	14: 37,079,725	I754L	probably benign	Het
Cep120	G	A	18: 53,723,241	T368I	probably benign	Het
Cep126	C	A	9: 8,100,908	D542Y	probably damaging	Het
Cep135	T	C	5: 76,624,747	S660P	possibly damaging	Het
Cfap70	A	T	14: 20,420,811	S455R	possibly damaging	Het
Chd8	A	G	14: 52,220,993	M886T	probably damaging	Het
Ckap5	T	C	2: 91,586,343	S1098P	probably benign	Het
Clec4e	A	T	6: 123,283,574	I204N	probably damaging	Het
Cntnap5c	G	A	17: 58,359,296	R1107H	probably damaging	Het
Cramp1l	T	C	17: 24,964,939	D1234G	probably damaging	Het
Csf1r	A	T	18: 61,112,795	I275L	probably benign	Het
Cyp27a1	A	G	1: 74,737,276	E457G	probably benign	Het
Cyp2d11	T	C	15: 82,389,548	T410A	probably benign	Het
Cyp2d22	G	C	15: 82,373,172	T264S	probably benign	Het
Cyr61	T	C	3: 145,648,210	Y275C	probably damaging	Het
Daam2	G	A	17: 49,483,060	R390W	probably damaging	Het
Decr2	T	C	17: 26,083,079	S226G	probably benign	Het
Dennd6b	T	C	15: 89,190,341	D91G	possibly damaging	Het
Dglucy	T	C	12: 100,859,644	V515A	possibly damaging	Het
Dlg5	A	T	14: 24,164,119	L734*	probably null	Het
Dopey2	A	G	16: 93,782,419	N1690D	probably damaging	Het
Exoc5	A	G	14: 49,034,890	Y356H	probably benign	Het
Fut7	T	A	2: 25,425,726	V332D	probably benign	Het
Gm436	A	G	4: 144,670,623	Y180H	possibly damaging	Het
Gnas	T	C	2: 174,298,733	S232P	probably damaging	Het
Gramd4	A	G	15: 86,132,905	E522G	probably damaging	Het
Gys1	A	G	7: 45,443,546	T297A	probably damaging	Het
Herc4	T	C	10: 63,273,525	S180P	probably benign	Het
Hivep3	C	T	4: 120,096,238	P584S	possibly damaging	Het
Jmjd1c	A	T	10: 67,225,440	S1191C	probably damaging	Het
Lima1	T	C	15: 99,819,684	N147S	probably benign	Het
Lrmp	T	A	6: 145,169,773	S310T	probably damaging	Het
Map4k5	G	A	12: 69,818,492	T506I	probably damaging	Het
Mat1a	A	T	14: 41,111,034	E58V	probably damaging	Het
Mfsd13a	T	C	19: 46,372,053	L348P	probably damaging	Het
Mon2	A	G	10: 123,009,565	Y1413H	probably damaging	Het
Mpp3	C	A	11: 102,018,552		probably benign	Het
Mpp4	T	A	1: 59,144,802	I260F	probably damaging	Het
Myocd	C	A	11: 65,200,907	G70C	probably damaging	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Nckap5	T	A	1: 126,014,630	D209V	probably damaging	Het
Nlrp9a	A	G	7: 26,564,941	K707R	probably benign	Het
Npr3	A	G	15: 11,904,969	L224S	probably benign	Het
Olfr1036	T	A	2: 86,075,205	L155Q	probably damaging	Het
Olfr1153	T	A	2: 87,897,039	V280E	probably damaging	Het
Olfr821	A	G	10: 130,033,733	S36G	probably damaging	Het
Otof	C	T	5: 30,388,654	D467N	probably damaging	Het
Paxx	T	C	2: 25,460,628		probably benign	Het
Pcmt1	G	A	10: 7,640,710	R179*	probably null	Het
Phkb	T	A	8: 85,970,951	V463D	probably benign	Het
Prkcq	T	C	2: 11,245,397	V175A	probably damaging	Het
Rasl11b	T	G	5: 74,196,136	I58S	probably damaging	Het
Rb1cc1	A	T	1: 6,248,195		probably null	Het
Reck	T	A	4: 43,913,771		probably null	Het
Riox1	G	T	12: 83,951,382	D231Y	probably damaging	Het
Rlf	T	A	4: 121,148,420	N1231I	probably damaging	Het
Rpn1	A	G	6: 88,095,548	D291G	possibly damaging	Het
Samsn1	C	T	16: 75,945,573		noncoding transcript	Het
Scara5	T	C	14: 65,689,800	C49R	possibly damaging	Het
Serpini1	A	G	3: 75,614,478	D92G	probably benign	Het
Setdb2	A	T	14: 59,419,409	L153Q	probably damaging	Het
Sh3rf3	C	T	10: 58,813,987	T138M	probably benign	Het
Shkbp1	C	T	7: 27,355,400		probably null	Het
Slc22a29	G	A	19: 8,218,343	P111S	probably benign	Het
Smarca1	A	G	X: 47,852,687	V618A	probably damaging	Het
Spef2	T	A	15: 9,609,516	M1308L	probably damaging	Het
Spink5	A	G	18: 43,990,708	N354S	probably benign	Het
Srrm2	T	C	17: 23,821,491	S2370P	probably damaging	Het
Ssxb3	A	T	X: 8,588,666	I28N	probably damaging	Het
Sucla2	A	G	14: 73,593,679	T411A	probably damaging	Het
Tex38	A	C	4: 115,780,340	S89A	probably benign	Het
Tjp2	A	T	19: 24,111,073	D723E	probably damaging	Het
Tln2	A	T	9: 67,255,901	N1121K	probably damaging	Het
Tti1	T	C	2: 158,009,046	E91G	possibly damaging	Het
Wbp2	A	T	11: 116,082,365	M72K	possibly damaging	Het
Wdfy4	C	A	14: 33,106,044	C1062F	possibly damaging	Het
Wiz	A	G	17: 32,359,372	Y389H	probably damaging	Het
Zcchc3	T	C	2: 152,414,092	K229R	probably damaging	Het
Zmat3	C	A	3: 32,360,982	D60Y	probably damaging	Het

Other mutations in Itpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Itpk1	APN	12	102606103	missense	probably damaging	1.00
IGL02247:Itpk1	APN	12	102623409	missense	probably damaging	1.00
IGL02998:Itpk1	APN	12	102579139	missense	probably damaging	1.00
ANU23:Itpk1	UTSW	12	102606103	missense	probably damaging	1.00
R0432:Itpk1	UTSW	12	102606078	splice site	probably benign
R0622:Itpk1	UTSW	12	102573980	missense	probably damaging	1.00
R0659:Itpk1	UTSW	12	102606078	splice site	probably benign
R0835:Itpk1	UTSW	12	102675448	missense	probably damaging	1.00
R1171:Itpk1	UTSW	12	102606119	missense	probably damaging	1.00
R1812:Itpk1	UTSW	12	102574058	missense	probably benign	0.01
R2277:Itpk1	UTSW	12	102570260	missense	probably benign
R2926:Itpk1	UTSW	12	102579130	missense	probably damaging	1.00
R4584:Itpk1	UTSW	12	102570157	missense	possibly damaging	0.89
R4690:Itpk1	UTSW	12	102606175	missense	probably damaging	0.96
R5050:Itpk1	UTSW	12	102704810	missense	probably damaging	1.00
R5326:Itpk1	UTSW	12	102573966	missense	possibly damaging	0.49
R5801:Itpk1	UTSW	12	102573945	missense	probably damaging	1.00
R5945:Itpk1	UTSW	12	102588553	missense	probably damaging	0.97
R7262:Itpk1	UTSW	12	102675453	missense	possibly damaging	0.89
R7421:Itpk1	UTSW	12	102574065	missense	possibly damaging	0.92
R7883:Itpk1	UTSW	12	102606175	missense	probably benign	0.35
R8438:Itpk1	UTSW	12	102606159	start gained	probably benign
X0058:Itpk1	UTSW	12	102574024	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCAGGAGCTATGTCAGATCTC -3'
(R):5'- CGAATTGGCCATCTCTTCTAGG -3'

Sequencing Primer
(F):5'- AGCTATGTCAGATCTCCAGGC -3'
(R):5'- ACACCTTGTCCTTGAAAGGG -3'

Posted On

2014-08-25