Mutagenetix > Incidental Mutations

Incidental Mutation 'R0578:Cdipt'

56314

Institutional Source

Beutler Lab

Gene Symbol

Cdipt

Ensembl Gene

ENSMUSG00000030682

Gene Name

CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)

Synonyms

D7Bwg0575e, 9530042F15Rik

MMRRC Submission

038768-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0578 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

126975914-126980501 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 126979530 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032920] [ENSMUST00000205437] [ENSMUST00000205830] [ENSMUST00000205830] [ENSMUST00000205903] [ENSMUST00000206170] [ENSMUST00000206296] [ENSMUST00000206346] [ENSMUST00000206346] [ENSMUST00000206450] [ENSMUST00000206450] [ENSMUST00000206780] [ENSMUST00000206794] [ENSMUST00000206816]

Predicted Effect

probably null
Transcript: ENSMUST00000032920

SMART Domains

Protein: ENSMUSP00000032920
Gene: ENSMUSG00000030682

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	9	72	2.4e-16	PFAM
transmembrane domain	141	160	N/A	INTRINSIC
transmembrane domain	175	197	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181859

Predicted Effect

probably benign
Transcript: ENSMUST00000205437

Predicted Effect

probably null
Transcript: ENSMUST00000205830

Predicted Effect

probably null
Transcript: ENSMUST00000205830

Predicted Effect

probably benign
Transcript: ENSMUST00000205903

Predicted Effect

probably benign
Transcript: ENSMUST00000206170

Predicted Effect

probably benign
Transcript: ENSMUST00000206296

Predicted Effect

probably null
Transcript: ENSMUST00000206346

Predicted Effect

probably null
Transcript: ENSMUST00000206346

Predicted Effect

probably null
Transcript: ENSMUST00000206450

Predicted Effect

probably null
Transcript: ENSMUST00000206450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206667

Predicted Effect

probably benign
Transcript: ENSMUST00000206780

Predicted Effect

probably benign
Transcript: ENSMUST00000206794

Predicted Effect

probably benign
Transcript: ENSMUST00000206816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206964

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 82,059,355	Y56C	possibly damaging	Het
Abca5	A	T	11: 110,276,489	C1500*	probably null	Het
Acr	C	G	15: 89,569,475	H72Q	probably damaging	Het
Adam18	T	C	8: 24,641,847	D416G	possibly damaging	Het
Afap1l2	T	A	19: 56,915,782	Y691F	probably benign	Het
Akna	A	G	4: 63,370,910	S1259P	probably benign	Het
Atad2	G	A	15: 58,105,568	T525I	probably damaging	Het
Atp2a1	T	G	7: 126,450,143	M576L	probably benign	Het
B4galt6	T	C	18: 20,727,956		probably benign	Het
Best3	A	G	10: 117,008,999	D353G	probably benign	Het
Btg3	A	T	16: 78,364,946	D125E	probably benign	Het
C87499	T	A	4: 88,634,139	I2F	probably benign	Het
Cabin1	A	T	10: 75,713,610	D1320E	probably damaging	Het
Cachd1	A	C	4: 100,994,842		probably benign	Het
Cad	T	C	5: 31,058,776	V151A	probably benign	Het
Capns1	A	T	7: 30,194,028		probably benign	Het
Catsperg2	T	A	7: 29,704,691	T860S	possibly damaging	Het
Ccdc61	T	C	7: 18,903,475	T76A	probably benign	Het
Cyp2d12	G	A	15: 82,556,383		probably benign	Het
Dennd4c	C	A	4: 86,812,422	P852Q	probably damaging	Het
Dsg2	G	A	18: 20,594,234	V613I	probably benign	Het
Dusp16	G	C	6: 134,718,321	L516V	probably damaging	Het
Eif2ak4	T	G	2: 118,474,991		probably benign	Het
Faf2	C	T	13: 54,621,845	A2V	possibly damaging	Het
Gas2l3	A	G	10: 89,417,075	I236T	probably damaging	Het
Gm6605	C	A	7: 38,448,275		noncoding transcript	Het
Got1	G	T	19: 43,515,783	S66R	probably benign	Het
Gpr149	T	A	3: 62,602,689	H335L	possibly damaging	Het
Hadhb	A	G	5: 30,178,806	I342M	probably benign	Het
Helz	T	A	11: 107,686,400	V1859D	unknown	Het
Htr1a	T	A	13: 105,445,087	N278K	probably damaging	Het
Inppl1	T	C	7: 101,831,588	E355G	probably damaging	Het
Isl2	A	G	9: 55,545,035	Y297C	probably damaging	Het
Kat7	T	C	11: 95,291,524	H250R	probably benign	Het
Klhl30	A	T	1: 91,354,352	D225V	probably benign	Het
Mtch2	T	C	2: 90,852,830		probably benign	Het
Muc4	C	A	16: 32,755,690		probably benign	Het
Ncoa7	A	C	10: 30,701,917		probably null	Het
Nuf2	T	A	1: 169,510,549		probably benign	Het
Olfr767	A	G	10: 129,079,193	Y257H	probably damaging	Het
Olfr994	T	C	2: 85,430,673	D52G	probably benign	Het
Pced1a	T	A	2: 130,419,843	S297C	probably damaging	Het
Pi15	A	T	1: 17,602,849	K91*	probably null	Het
Pla2g4e	C	T	2: 120,244,681		probably benign	Het
Plce1	A	T	19: 38,777,939	H2136L	probably damaging	Het
Plec	A	G	15: 76,176,884	L2973P	probably damaging	Het
Poln	A	G	5: 34,014,338	I695T	probably damaging	Het
R3hdm1	C	T	1: 128,231,437	Q950*	probably null	Het
Rxra	C	T	2: 27,759,570	A429V	probably damaging	Het
Scnn1a	G	A	6: 125,322,244	G96S	probably damaging	Het
Senp5	T	A	16: 31,989,345	T337S	possibly damaging	Het
Smg9	A	G	7: 24,415,043	D269G	probably damaging	Het
Srsf11	C	T	3: 158,012,067		probably benign	Het
Tmtc1	C	T	6: 148,355,218		probably benign	Het
Vmn2r19	T	C	6: 123,335,972	V667A	probably damaging	Het

Other mutations in Cdipt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01845:Cdipt	APN	7	126979553	missense	possibly damaging	0.84
R0063:Cdipt	UTSW	7	126979600	missense	probably benign
R0063:Cdipt	UTSW	7	126979600	missense	probably benign
R0446:Cdipt	UTSW	7	126978264	missense	probably damaging	1.00
R0828:Cdipt	UTSW	7	126976920	missense	probably damaging	1.00
R2020:Cdipt	UTSW	7	126976933	missense	possibly damaging	0.69
R4669:Cdipt	UTSW	7	126978406	missense	possibly damaging	0.82
R4731:Cdipt	UTSW	7	126978358	missense	probably damaging	1.00
R4732:Cdipt	UTSW	7	126978358	missense	probably damaging	1.00
R4733:Cdipt	UTSW	7	126978358	missense	probably damaging	1.00
R5590:Cdipt	UTSW	7	126979532	splice site	probably null
R5870:Cdipt	UTSW	7	126978922	missense	probably benign	0.28
R6034:Cdipt	UTSW	7	126978325	missense	probably damaging	0.99
R6034:Cdipt	UTSW	7	126978325	missense	probably damaging	0.99
R6084:Cdipt	UTSW	7	126979601	missense	probably benign	0.10
R6090:Cdipt	UTSW	7	126976959	missense	possibly damaging	0.94
R7571:Cdipt	UTSW	7	126979622	missense	probably benign	0.05
Z1177:Cdipt	UTSW	7	126976944	missense	not run

Predicted Primers

PCR Primer
(F):5'- CTCTTCAATTTCTCCGAGGGACCAC -3'
(R):5'- CCCAGCAGGTTAGAGAACACATGAG -3'

Sequencing Primer
(F):5'- TCCGAGGGACCACTAGGTAAG -3'
(R):5'- CGTGGTACAGTAGATACCCAG -3'

Posted On

2013-07-11