Mutagenetix > Incidental Mutation

Incidental Mutation 'R5176:Cds1'

399276

Institutional Source

Beutler Lab

Gene Symbol

Cds1

Ensembl Gene

ENSMUSG00000029330

Gene Name

CDP-diacylglycerol synthase 1

Synonyms

4833409J18Rik, phosphatidate cytidylyltransferase

MMRRC Submission

042756-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R5176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101913001-101971724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101929286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 55 (D55Y)

Ref Sequence

ENSEMBL: ENSMUSP00000031273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031273]

AlphaFold

P98191

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031273
AA Change: D55Y

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031273
Gene: ENSMUSG00000029330
AA Change: D55Y

Domain	Start	End	E-Value	Type
low complexity region	7	29	N/A	INTRINSIC
Pfam:CTP_transf_1	87	417	6.4e-89	PFAM
low complexity region	427	439	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199649

Meta Mutation Damage Score

0.1265

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Breakdown products of phosphoinositides 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. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	C	A	10: 79,834,123 (GRCm39)	H116Q	probably benign	Het
Akap12	G	T	10: 4,303,947 (GRCm39)	E252D	probably benign	Het
Apobr	A	G	7: 126,184,188 (GRCm39)	D2G	probably damaging	Het
Arhgef12	A	T	9: 42,931,982 (GRCm39)	H168Q	probably damaging	Het
Asb3	T	A	11: 31,031,357 (GRCm39)		probably null	Het
Brip1	T	C	11: 85,968,710 (GRCm39)	Y825C	probably damaging	Het
Cacna1b	A	T	2: 24,525,143 (GRCm39)	Y1679N	probably damaging	Het
Ccdc69	C	T	11: 54,951,296 (GRCm39)	A42T	probably benign	Het
Cep135	C	A	5: 76,784,873 (GRCm39)	D989E	probably benign	Het
Cpsf6	C	A	10: 117,197,189 (GRCm39)		probably benign	Het
Ctif	C	T	18: 75,770,290 (GRCm39)	V32M	probably damaging	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dao	T	C	5: 114,158,070 (GRCm39)		probably null	Het
Dop1a	T	A	9: 86,403,868 (GRCm39)	N1689K	probably damaging	Het
Dop1b	A	G	16: 93,536,931 (GRCm39)	Y14C	probably damaging	Het
Fam187a	C	T	11: 102,777,290 (GRCm39)	R365C	probably damaging	Het
Fastkd2	A	G	1: 63,770,598 (GRCm39)		probably benign	Het
Fhip2a	A	G	19: 57,359,613 (GRCm39)	N51S	probably damaging	Het
Fkbp15	G	T	4: 62,230,560 (GRCm39)	L718I	possibly damaging	Het
Gabbr2	C	A	4: 46,681,208 (GRCm39)	V118F	probably damaging	Het
Gm13991	T	A	2: 116,358,508 (GRCm39)		noncoding transcript	Het
H2-M9	T	C	17: 36,952,523 (GRCm39)	I174M	probably damaging	Het
Ift70a2	T	C	2: 75,807,421 (GRCm39)	M364V	probably benign	Het
Insr	T	A	8: 3,208,742 (GRCm39)	M1240L	probably benign	Het
Ints15	G	T	5: 143,300,830 (GRCm39)	S7*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Mad2l1bp	T	A	17: 46,463,738 (GRCm39)	E95D	probably benign	Het
Marchf9	T	C	10: 126,895,319 (GRCm39)	D102G	probably benign	Het
Muc19	A	G	15: 91,776,374 (GRCm39)		noncoding transcript	Het
Nr1h4	T	A	10: 89,334,117 (GRCm39)	Y91F	probably benign	Het
Nr5a2	A	T	1: 136,876,540 (GRCm39)	M1K	probably null	Het
Oprd1	T	C	4: 131,841,104 (GRCm39)	T285A	probably benign	Het
Optc	T	C	1: 133,829,822 (GRCm39)	N196S	probably benign	Het
Or51f5	T	A	7: 102,424,513 (GRCm39)	S261T	probably damaging	Het
Or5g29	A	C	2: 85,421,779 (GRCm39)	K298N	possibly damaging	Het
Or7g21	A	T	9: 19,032,656 (GRCm39)	Y132F	probably damaging	Het
Panx2	G	T	15: 88,944,431 (GRCm39)	R52L	probably damaging	Het
Pdzd8	A	G	19: 59,333,389 (GRCm39)	F211L	probably damaging	Het
Pot1b	T	A	17: 56,006,995 (GRCm39)	T41S	probably benign	Het
Prss56	T	C	1: 87,111,880 (GRCm39)	L37S	probably damaging	Het
Ptk2b	T	C	14: 66,393,864 (GRCm39)	T870A	probably damaging	Het
Rabep2	C	A	7: 126,033,465 (GRCm39)		probably benign	Het
Rbm48	A	C	5: 3,645,444 (GRCm39)	V80G	probably damaging	Het
Rhou	G	T	8: 124,380,848 (GRCm39)	C55F	possibly damaging	Het
Rnaseh2c	A	G	19: 5,652,070 (GRCm39)	D45G	probably benign	Het
Rusc1	A	G	3: 88,996,389 (GRCm39)	S109P	probably damaging	Het
Ryr3	T	C	2: 112,588,012 (GRCm39)	D2643G	possibly damaging	Het
Septin4	T	A	11: 87,458,358 (GRCm39)	M244K	probably benign	Het
Sik2	T	C	9: 50,810,703 (GRCm39)	E471G	probably benign	Het
Sipa1	A	G	19: 5,709,406 (GRCm39)	S310P	probably damaging	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spen	T	C	4: 141,203,587 (GRCm39)	E1680G	unknown	Het
Steap3	C	T	1: 120,171,497 (GRCm39)		probably null	Het
Tmeff2	T	A	1: 51,110,700 (GRCm39)	C171*	probably null	Het
Tmem138	A	T	19: 10,552,634 (GRCm39)	M33K	probably benign	Het
Trappc11	C	A	8: 47,963,998 (GRCm39)	V601L	possibly damaging	Het
Ttll4	C	A	1: 74,718,445 (GRCm39)	H99N	probably damaging	Het
Uchl4	A	T	9: 64,143,022 (GRCm39)	K168*	probably null	Het
Wdr17	C	T	8: 55,106,913 (GRCm39)		probably null	Het
Xpo1	A	G	11: 23,245,977 (GRCm39)	D1029G	probably damaging	Het
Zfp719	G	T	7: 43,240,549 (GRCm39)	K712N	probably damaging	Het

Other mutations in Cds1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Cds1	APN	5	101,957,767 (GRCm39)	missense	probably damaging	0.99
IGL02052:Cds1	APN	5	101,962,338 (GRCm39)	missense	probably benign	0.01
IGL02238:Cds1	APN	5	101,962,302 (GRCm39)	missense	possibly damaging	0.84
IGL02449:Cds1	APN	5	101,963,794 (GRCm39)	missense	probably damaging	1.00
IGL02833:Cds1	APN	5	101,962,332 (GRCm39)	missense	possibly damaging	0.81
IGL02973:Cds1	APN	5	101,960,376 (GRCm39)	missense	probably damaging	0.99
IGL02987:Cds1	APN	5	101,960,391 (GRCm39)	missense	possibly damaging	0.85
R0076:Cds1	UTSW	5	101,965,706 (GRCm39)	splice site	probably benign
R0200:Cds1	UTSW	5	101,962,299 (GRCm39)	missense	probably damaging	0.97
R0285:Cds1	UTSW	5	101,944,904 (GRCm39)	missense	probably damaging	1.00
R0608:Cds1	UTSW	5	101,962,299 (GRCm39)	missense	probably damaging	0.97
R0932:Cds1	UTSW	5	101,944,891 (GRCm39)	missense	probably damaging	0.99
R1444:Cds1	UTSW	5	101,946,245 (GRCm39)	missense	probably damaging	1.00
R1585:Cds1	UTSW	5	101,965,828 (GRCm39)	splice site	probably benign
R1781:Cds1	UTSW	5	101,960,416 (GRCm39)	missense	possibly damaging	0.78
R2126:Cds1	UTSW	5	101,960,416 (GRCm39)	missense	probably benign	0.34
R4804:Cds1	UTSW	5	101,969,389 (GRCm39)	missense	probably damaging	1.00
R4990:Cds1	UTSW	5	101,946,245 (GRCm39)	missense	probably damaging	1.00
R5330:Cds1	UTSW	5	101,946,361 (GRCm39)	missense	probably damaging	1.00
R5331:Cds1	UTSW	5	101,946,361 (GRCm39)	missense	probably damaging	1.00
R9257:Cds1	UTSW	5	101,963,751 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGCTGTTTGAAAGAATACTTTGCC -3'
(R):5'- TTCTCCCATGGGTCCCAAATG -3'

Sequencing Primer
(F):5'- AGAATACTTTGCCTCAGGAGTG -3'
(R):5'- TGGGTCCCAAATGCACAAAAATC -3'

Posted On

2016-07-06