Mutagenetix > Incidental Mutation

Incidental Mutation 'R0285:Cds1'

24660

Institutional Source

Beutler Lab

Gene Symbol

Cds1

Ensembl Gene

ENSMUSG00000029330

Gene Name

CDP-diacylglycerol synthase 1

Synonyms

4833409J18Rik, phosphatidate cytidylyltransferase

MMRRC Submission

038506-MU

Accession Numbers

Essential gene?

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

Stock #

R0285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101913001-101971724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101944904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 126 (I126T)

Ref Sequence

ENSEMBL: ENSMUSP00000031273 (fasta)

Gene Model

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

AlphaFold

P98191

Predicted Effect

probably damaging
Transcript: ENSMUST00000031273
AA Change: I126T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031273
Gene: ENSMUSG00000029330
AA Change: I126T

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

Meta Mutation Damage Score

0.6782

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 92.9%

Validation Efficiency

99% (80/81)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy3	A	G	19: 4,038,193 (GRCm39)	E162G	probably benign	Het
Angptl1	T	C	1: 156,672,785 (GRCm39)	S204P	probably benign	Het
Atf6b	C	T	17: 34,869,370 (GRCm39)		probably benign	Het
Card11	G	A	5: 140,872,856 (GRCm39)	S619F	probably damaging	Het
Ccdc192	G	A	18: 57,666,937 (GRCm39)	G5S	probably damaging	Het
Ccl11	G	A	11: 81,953,084 (GRCm39)	V81I	probably damaging	Het
Chd1	A	G	17: 17,594,942 (GRCm39)		probably benign	Het
Cndp1	C	A	18: 84,636,363 (GRCm39)	V384F	possibly damaging	Het
Cuta	A	G	17: 27,158,423 (GRCm39)		probably null	Het
Diaph3	G	A	14: 87,352,460 (GRCm39)	T47I	possibly damaging	Het
Dop1a	A	T	9: 86,394,692 (GRCm39)	S598C	probably damaging	Het
Dsp	A	G	13: 38,356,770 (GRCm39)	M217V	probably benign	Het
Entrep1	G	A	19: 23,956,749 (GRCm39)		probably benign	Het
Esyt1	T	A	10: 128,348,087 (GRCm39)	I898F	possibly damaging	Het
Fcsk	G	C	8: 111,620,349 (GRCm39)	H235Q	probably benign	Het
Fgd3	A	T	13: 49,417,424 (GRCm39)	W680R	possibly damaging	Het
Folh1	A	G	7: 86,391,373 (GRCm39)		probably benign	Het
Gadl1	C	A	9: 115,859,806 (GRCm39)		probably benign	Het
Garem1	A	G	18: 21,262,669 (GRCm39)	M715T	probably benign	Het
Gpd2	A	T	2: 57,228,967 (GRCm39)	D257V	probably benign	Het
Hdac7	A	G	15: 97,696,103 (GRCm39)		probably null	Het
Heatr5b	A	G	17: 79,115,882 (GRCm39)	M858T	probably benign	Het
Inpp4b	A	T	8: 82,761,145 (GRCm39)		probably benign	Het
Iqgap3	G	T	3: 88,004,297 (GRCm39)	C461F	probably benign	Het
Lamb1	C	A	12: 31,376,644 (GRCm39)	C559*	probably null	Het
Lratd2	T	C	15: 60,694,816 (GRCm39)	H310R	probably benign	Het
Lrrc31	T	C	3: 30,739,097 (GRCm39)	N308S	probably benign	Het
Ly75	T	C	2: 60,148,663 (GRCm39)	Y1222C	probably damaging	Het
Map3k10	C	A	7: 27,373,325 (GRCm39)	R42L	probably benign	Het
Meioc	A	G	11: 102,563,017 (GRCm39)	T72A	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mmp11	T	C	10: 75,761,502 (GRCm39)	Y366C	probably damaging	Het
N4bp2	T	A	5: 65,963,902 (GRCm39)	D650E	probably benign	Het
Ncoa6	T	C	2: 155,257,621 (GRCm39)	M641V	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nol4l	G	A	2: 153,325,773 (GRCm39)		probably benign	Het
Notch1	T	G	2: 26,350,873 (GRCm39)	D2089A	possibly damaging	Het
Or10q3	A	G	19: 11,848,502 (GRCm39)	L26P	probably damaging	Het
Or13c7	G	A	4: 43,854,398 (GRCm39)	V30M	possibly damaging	Het
Or52h2	A	T	7: 103,838,531 (GRCm39)	Y294*	probably null	Het
Or5b24	A	T	19: 12,912,536 (GRCm39)	M145L	probably benign	Het
Or5l13	A	G	2: 87,780,475 (GRCm39)	I34T	probably damaging	Het
Or5p68	A	G	7: 107,945,706 (GRCm39)	S161P	probably benign	Het
Or8d23	T	A	9: 38,842,070 (GRCm39)	I201N	possibly damaging	Het
Otof	C	T	5: 30,536,877 (GRCm39)		probably null	Het
Paox	T	C	7: 139,709,053 (GRCm39)	F324L	probably damaging	Het
Pycr1	A	T	11: 120,531,142 (GRCm39)	I277N	probably benign	Het
R3hcc1l	A	T	19: 42,564,568 (GRCm39)	H627L	probably damaging	Het
Rab21	G	A	10: 115,126,768 (GRCm39)	S193L	probably benign	Het
Ralgds	T	G	2: 28,440,581 (GRCm39)		probably null	Het
Rbm42	A	G	7: 30,345,265 (GRCm39)	S169P	possibly damaging	Het
Rfpl4	A	G	7: 5,113,377 (GRCm39)	V262A	probably benign	Het
Rhobtb3	A	G	13: 76,025,628 (GRCm39)	I496T	possibly damaging	Het
Rnf31	G	A	14: 55,838,846 (GRCm39)	A901T	probably damaging	Het
Ryr2	T	C	13: 11,731,863 (GRCm39)	D2359G	probably damaging	Het
Sgo2b	A	C	8: 64,381,823 (GRCm39)	Y336*	probably null	Het
Slc16a7	T	A	10: 125,130,500 (GRCm39)	I62L	probably benign	Het
Slc22a21	A	T	11: 53,850,022 (GRCm39)		probably benign	Het
Slc25a21	A	G	12: 56,904,810 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,898,117 (GRCm39)	I532M	probably damaging	Het
Spata31f1a	G	A	4: 42,850,236 (GRCm39)	T640M	probably benign	Het
Srrm4	C	A	5: 116,605,848 (GRCm39)		probably benign	Het
Stxbp1	C	A	2: 32,713,554 (GRCm39)	E27D	probably benign	Het
Sult2a5	T	A	7: 13,362,685 (GRCm39)	Y131N	probably damaging	Het
Svopl	T	C	6: 37,961,457 (GRCm39)	Q492R	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,224,905 (GRCm39)	S119P	probably benign	Het
Tmprss11c	A	G	5: 86,419,289 (GRCm39)	L90P	probably damaging	Het
Tmprss6	T	A	15: 78,337,068 (GRCm39)	D346V	probably damaging	Het
Ubr4	A	C	4: 139,168,112 (GRCm39)	S2820R	probably damaging	Het
Usp4	T	C	9: 108,255,763 (GRCm39)	V607A	probably benign	Het
Usp45	A	G	4: 21,798,603 (GRCm39)		probably null	Het
Vill	C	T	9: 118,899,895 (GRCm39)		probably benign	Het
Vmn1r13	C	A	6: 57,186,979 (GRCm39)	T46N	probably benign	Het
Vmn2r107	A	G	17: 20,565,873 (GRCm39)	T63A	probably benign	Het
Vmn2r82	T	A	10: 79,232,391 (GRCm39)	W797R	probably damaging	Het
Washc2	T	A	6: 116,198,800 (GRCm39)	D287E	probably damaging	Het
Xpc	G	A	6: 91,475,046 (GRCm39)	L660F	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
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
R5176:Cds1	UTSW	5	101,929,286 (GRCm39)	missense	possibly damaging	0.87
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'- TCCGTCTGCTACTCGATTAGACACC -3'
(R):5'- ACTAAACTGCCCGTGCAAGAGAAG -3'

Sequencing Primer
(F):5'- ACTCGATTAGACACCACTTCATTG -3'
(R):5'- AAAGGCCACGTTCGTCTTTAC -3'

Posted On

2013-04-16