Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01845:Cdipt'

178164

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdipt

Ensembl Gene

ENSMUSG00000030682

Gene Name

CDP-diacylglycerol--inositol 3-phosphatidyltransferase

Synonyms

9530042F15Rik, D7Bwg0575e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01845

Quality Score

Status

Chromosome

Chromosomal Location

126575630-126579671 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126578725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 145 (S145P)

Ref Sequence

ENSEMBL: ENSMUSP00000146256 (fasta)

Gene Model

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

AlphaFold

Q8VDP6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032920
AA Change: F172S

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032920
Gene: ENSMUSG00000030682
AA Change: F172S

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

possibly damaging
Transcript: ENSMUST00000205830
AA Change: F144S

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000205903

Predicted Effect

probably benign
Transcript: ENSMUST00000206170

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206450
AA Change: S145P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000206346

Predicted Effect

probably benign
Transcript: ENSMUST00000206780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206667

Predicted Effect

probably benign
Transcript: ENSMUST00000206816

Predicted Effect

probably benign
Transcript: ENSMUST00000206794

Predicted Effect

probably benign
Transcript: ENSMUST00000206296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206964

Coding Region Coverage

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	C	17: 15,164,380 (GRCm39)	L169P	probably damaging	Het
4933405L10Rik	C	A	8: 106,435,567 (GRCm39)	A75E	probably benign	Het
Abca1	A	G	4: 53,090,297 (GRCm39)	L384P	probably damaging	Het
Acox2	C	A	14: 8,251,617 (GRCm38)	M293I	probably damaging	Het
Acp6	A	G	3: 97,081,123 (GRCm39)	S288G	probably benign	Het
Arhgef12	T	A	9: 42,934,137 (GRCm39)	H127L	possibly damaging	Het
Arid2	T	G	15: 96,254,678 (GRCm39)	F175V	probably damaging	Het
Ccdc15	G	A	9: 37,226,532 (GRCm39)	Q468*	probably null	Het
Ccdc93	T	C	1: 121,390,859 (GRCm39)	I277T	probably damaging	Het
Cdh8	T	C	8: 99,825,586 (GRCm39)		probably benign	Het
Cfap206	T	C	4: 34,719,610 (GRCm39)	N268S	possibly damaging	Het
Clcn3	A	T	8: 61,366,129 (GRCm39)	N814K	probably benign	Het
Col6a3	T	C	1: 90,724,293 (GRCm39)	D2019G	probably damaging	Het
Corin	C	A	5: 72,511,282 (GRCm39)	G432C	probably damaging	Het
Crppa	A	G	12: 36,597,918 (GRCm39)	R350G	probably benign	Het
Cyld	C	T	8: 89,432,403 (GRCm39)	Q134*	probably null	Het
Dhh	C	A	15: 98,795,864 (GRCm39)	R97L	probably damaging	Het
Dnah5	T	C	15: 28,449,315 (GRCm39)	V4239A	probably benign	Het
Dock2	T	C	11: 34,599,692 (GRCm39)	I296V	probably benign	Het
Gabbr1	T	C	17: 37,359,306 (GRCm39)		probably benign	Het
Gbp10	T	C	5: 105,367,815 (GRCm39)		probably null	Het
Itgam	T	A	7: 127,711,644 (GRCm39)	L753Q	probably damaging	Het
Kbtbd12	A	G	6: 88,590,922 (GRCm39)	V430A	probably benign	Het
Kdm4a	A	G	4: 118,017,656 (GRCm39)	V470A	possibly damaging	Het
Larp1b	A	T	3: 40,924,960 (GRCm39)	T146S	probably benign	Het
Lrrfip2	T	A	9: 111,028,728 (GRCm39)		probably benign	Het
Mier2	A	T	10: 79,385,418 (GRCm39)	C137S	possibly damaging	Het
Morc3	A	G	16: 93,657,455 (GRCm39)	Y393C	probably damaging	Het
Ms4a7	A	T	19: 11,299,751 (GRCm39)	M217K	possibly damaging	Het
Msl1	A	G	11: 98,696,191 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,083,860 (GRCm39)	E1546G	probably benign	Het
Nlgn2	A	G	11: 69,716,675 (GRCm39)	L622P	possibly damaging	Het
Oga	T	A	19: 45,756,301 (GRCm39)	E447D	probably benign	Het
Or10q3	A	G	19: 11,847,888 (GRCm39)	S231P	probably benign	Het
Or1e33	A	G	11: 73,738,298 (GRCm39)	Y218H	probably damaging	Het
Or1j11	A	C	2: 36,312,105 (GRCm39)	K232Q	probably benign	Het
Or56b1b	T	A	7: 108,164,343 (GRCm39)	I220L	possibly damaging	Het
Or5k17	T	C	16: 58,746,929 (GRCm39)	M2V	probably benign	Het
Phf20	C	A	2: 156,118,577 (GRCm39)	S427*	probably null	Het
Pirt	G	A	11: 66,816,794 (GRCm39)	S35N	probably damaging	Het
Prss28	C	A	17: 25,529,011 (GRCm39)	N117K	possibly damaging	Het
Rbbp8nl	A	G	2: 179,925,104 (GRCm39)	C34R	probably damaging	Het
Rtn3	A	T	19: 7,435,241 (GRCm39)	D231E	probably damaging	Het
Sema5a	T	C	15: 32,474,514 (GRCm39)		probably benign	Het
Sh3bp2	T	A	5: 34,713,347 (GRCm39)	L196Q	probably damaging	Het
Slc26a9	G	T	1: 131,685,256 (GRCm39)	D325Y	probably damaging	Het
Slc4a1	A	G	11: 102,244,729 (GRCm39)	V622A	probably benign	Het
Thbd	A	G	2: 148,249,016 (GRCm39)	V284A	probably benign	Het
Tmc5	T	C	7: 118,251,733 (GRCm39)	F609L	possibly damaging	Het
Tnr	T	C	1: 159,695,576 (GRCm39)		probably benign	Het
Ttc17	A	T	2: 94,163,177 (GRCm39)	Y881*	probably null	Het
Ttc41	A	T	10: 86,612,488 (GRCm39)	T1254S	probably benign	Het
Ttn	C	T	2: 76,640,347 (GRCm39)	D13754N	probably damaging	Het
Vmn2r16	T	A	5: 109,511,762 (GRCm39)	F656L	probably damaging	Het
Wdr19	A	G	5: 65,382,709 (GRCm39)	I478V	probably damaging	Het
Zan	T	C	5: 137,379,116 (GRCm39)		probably benign	Het
Zp2	T	A	7: 119,737,414 (GRCm39)	D258V	probably damaging	Het

Other mutations in Cdipt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0063:Cdipt	UTSW	7	126,578,772 (GRCm39)	missense	probably benign
R0063:Cdipt	UTSW	7	126,578,772 (GRCm39)	missense	probably benign
R0446:Cdipt	UTSW	7	126,577,436 (GRCm39)	missense	probably damaging	1.00
R0578:Cdipt	UTSW	7	126,578,702 (GRCm39)	splice site	probably null
R0828:Cdipt	UTSW	7	126,576,092 (GRCm39)	missense	probably damaging	1.00
R2020:Cdipt	UTSW	7	126,576,105 (GRCm39)	missense	possibly damaging	0.69
R4669:Cdipt	UTSW	7	126,577,578 (GRCm39)	missense	possibly damaging	0.82
R4731:Cdipt	UTSW	7	126,577,530 (GRCm39)	missense	probably damaging	1.00
R4732:Cdipt	UTSW	7	126,577,530 (GRCm39)	missense	probably damaging	1.00
R4733:Cdipt	UTSW	7	126,577,530 (GRCm39)	missense	probably damaging	1.00
R5590:Cdipt	UTSW	7	126,578,704 (GRCm39)	splice site	probably null
R5870:Cdipt	UTSW	7	126,578,094 (GRCm39)	missense	probably benign	0.28
R6034:Cdipt	UTSW	7	126,577,497 (GRCm39)	missense	probably damaging	0.99
R6034:Cdipt	UTSW	7	126,577,497 (GRCm39)	missense	probably damaging	0.99
R6084:Cdipt	UTSW	7	126,578,773 (GRCm39)	missense	probably benign	0.10
R6090:Cdipt	UTSW	7	126,576,131 (GRCm39)	missense	possibly damaging	0.94
R7571:Cdipt	UTSW	7	126,578,794 (GRCm39)	missense	probably benign	0.05
R8245:Cdipt	UTSW	7	126,578,732 (GRCm39)	missense	probably benign
R8929:Cdipt	UTSW	7	126,578,825 (GRCm39)	missense	probably damaging	0.99
R9717:Cdipt	UTSW	7	126,576,202 (GRCm39)	unclassified	probably benign
Z1177:Cdipt	UTSW	7	126,576,116 (GRCm39)	missense	probably benign	0.01

Posted On

2014-05-07