Mutagenetix > Incidental Mutation

Incidental Mutation 'R2269:Coasy'

242336

Institutional Source

Beutler Lab

Gene Symbol

Coasy

Ensembl Gene

ENSMUSG00000001755

Gene Name

Coenzyme A synthase

Synonyms

1300003G02Rik, Ppat, Dpck, Ukr1

MMRRC Submission

040269-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R2269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100973391-100977445 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100976708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 493 (T493A)

Ref Sequence

ENSEMBL: ENSMUSP00000102929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001806] [ENSMUST00000017945] [ENSMUST00000107302] [ENSMUST00000107303] [ENSMUST00000107308] [ENSMUST00000149597]

AlphaFold

Q9DBL7

Predicted Effect

probably benign
Transcript: ENSMUST00000001806
AA Change: T493A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755
AA Change: T493A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	159	170	N/A	INTRINSIC
Pfam:CTP_transf_2	194	338	1.4e-11	PFAM
Pfam:CoaE	358	536	5.6e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000017945

SMART Domains

Protein: ENSMUSP00000017945
Gene: ENSMUSG00000017801

Domain	Start	End	E-Value	Type
low complexity region	18	41	N/A	INTRINSIC
HLH	135	193	8.13e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107302

SMART Domains

Protein: ENSMUSP00000102923
Gene: ENSMUSG00000017801

Domain	Start	End	E-Value	Type
HLH	81	139	8.13e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107303

SMART Domains

Protein: ENSMUSP00000102924
Gene: ENSMUSG00000017801

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
HLH	51	109	8.13e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107308
AA Change: T493A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755
AA Change: T493A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	159	170	N/A	INTRINSIC
Pfam:CTP_transf_like	194	338	5.3e-11	PFAM
Pfam:CoaE	358	536	1.7e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151056

Predicted Effect

probably benign
Transcript: ENSMUST00000149597

SMART Domains

Protein: ENSMUSP00000121600
Gene: ENSMUSG00000017801

Domain	Start	End	E-Value	Type
low complexity region	18	41	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
Pfam:HLH	100	127	2.5e-8	PFAM

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: This gene encodes the bifunctional protein coenzyme A (CoA) synthase which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this protein catalyzes the conversion of phosphopantetheine into dephospho-CoA while its dephospho-CoA kinase domain completes the final step by phosphorylating dephospho-CoA to form CoA. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Abca8a	A	C	11: 109,917,718 (GRCm39)	F1574V	probably damaging	Het
Adh6a	A	T	3: 138,034,857 (GRCm39)	I329L	probably benign	Het
Agap2	T	A	10: 126,918,297 (GRCm39)		probably benign	Het
Ager	A	T	17: 34,818,124 (GRCm39)	I185F	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Arhgef16	T	A	4: 154,369,490 (GRCm39)	H329L	probably damaging	Het
Astn1	T	C	1: 158,329,669 (GRCm39)	Y175H	probably damaging	Het
Banp	A	G	8: 122,702,662 (GRCm39)	T70A	probably benign	Het
Bcl11b	T	C	12: 107,881,910 (GRCm39)	T802A	possibly damaging	Het
Ces2a	A	T	8: 105,466,822 (GRCm39)	I65F	probably benign	Het
Cflar	G	A	1: 58,780,206 (GRCm39)		probably null	Het
Clec16a	G	A	16: 10,462,650 (GRCm39)	R656H	probably damaging	Het
Cntn1	A	G	15: 92,192,863 (GRCm39)		probably benign	Het
Col16a1	C	A	4: 129,946,711 (GRCm39)	H111Q	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyp3a41b	A	T	5: 145,514,976 (GRCm39)	V83D	probably benign	Het
D2hgdh	C	T	1: 93,763,157 (GRCm39)	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Decr2	C	A	17: 26,302,858 (GRCm39)	V173L	probably benign	Het
Defb11	A	G	8: 22,395,444 (GRCm39)	*78Q	probably null	Het
Dock3	C	A	9: 106,818,525 (GRCm39)	V1190F	probably damaging	Het
Dusp1	A	T	17: 26,726,093 (GRCm39)	I200N	probably damaging	Het
Efna1	G	A	3: 89,183,646 (GRCm39)	A60V	possibly damaging	Het
Egfl8	C	T	17: 34,832,832 (GRCm39)	V253M	probably damaging	Het
Epb41	T	A	4: 131,691,458 (GRCm39)	N623I	probably benign	Het
Fbxw22	C	T	9: 109,213,062 (GRCm39)	R295K	probably benign	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gbe1	C	T	16: 70,233,840 (GRCm39)	A239V	probably damaging	Het
Gpatch3	C	T	4: 133,311,118 (GRCm39)	A518V	possibly damaging	Het
Gpc6	A	T	14: 118,125,932 (GRCm39)		probably null	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,299 (GRCm39)	Y138H	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Klhl31	A	G	9: 77,557,440 (GRCm39)	D52G	possibly damaging	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lrrc43	A	T	5: 123,641,354 (GRCm39)	T513S	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh5	T	C	15: 73,664,997 (GRCm39)	N258D	probably benign	Het
Mrpl28	T	C	17: 26,345,285 (GRCm39)	V235A	probably benign	Het
Mtbp	G	A	15: 55,432,556 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,455,362 (GRCm39)	K92E	possibly damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Nav1	A	T	1: 135,399,974 (GRCm39)	L532*	probably null	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or1e23	A	G	11: 73,407,309 (GRCm39)	S239P	probably damaging	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Pappa2	A	G	1: 158,684,841 (GRCm39)	M766T	probably damaging	Het
Pkhd1	C	T	1: 20,604,759 (GRCm39)		probably null	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Pxdn	T	A	12: 30,055,774 (GRCm39)	V1220E	probably damaging	Het
Robo1	T	A	16: 72,775,660 (GRCm39)	F728L	probably benign	Het
Rtel1	G	T	2: 180,977,796 (GRCm39)	Q292H	probably benign	Het
Sh3bp4	G	A	1: 89,073,314 (GRCm39)	V721I	possibly damaging	Het
Slc2a10	T	A	2: 165,356,701 (GRCm39)	C120*	probably null	Het
Srd5a2	T	C	17: 74,331,485 (GRCm39)	R171G	probably damaging	Het
Srsf4	T	C	4: 131,624,993 (GRCm39)	V130A	probably damaging	Het
Styk1	T	C	6: 131,289,539 (GRCm39)	E25G	probably benign	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tbx1	T	C	16: 18,400,744 (GRCm39)		probably null	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tmem252	T	C	19: 24,651,455 (GRCm39)	I8T	probably benign	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r107	T	C	17: 20,595,817 (GRCm39)	I790T	possibly damaging	Het
Vmn2r77	T	C	7: 86,460,897 (GRCm39)	V741A	probably benign	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Ylpm1	T	A	12: 85,061,824 (GRCm39)	V575E	unknown	Het
Zbp1	T	A	2: 173,060,616 (GRCm39)		probably benign	Het
Zfp280d	C	A	9: 72,209,052 (GRCm39)		probably benign	Het
Zkscan5	A	G	5: 145,142,277 (GRCm39)	Y58C	probably damaging	Het

Other mutations in Coasy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02364:Coasy	APN	11	100,975,184 (GRCm39)	missense	possibly damaging	0.76
IGL02633:Coasy	APN	11	100,976,147 (GRCm39)	missense	probably damaging	1.00
BB002:Coasy	UTSW	11	100,974,522 (GRCm39)	missense	probably benign
BB012:Coasy	UTSW	11	100,974,522 (GRCm39)	missense	probably benign
R0946:Coasy	UTSW	11	100,976,696 (GRCm39)	missense	probably damaging	0.96
R1434:Coasy	UTSW	11	100,975,822 (GRCm39)	unclassified	probably benign
R2881:Coasy	UTSW	11	100,976,675 (GRCm39)	missense	possibly damaging	0.90
R5037:Coasy	UTSW	11	100,975,648 (GRCm39)	missense	probably damaging	1.00
R5791:Coasy	UTSW	11	100,975,211 (GRCm39)	splice site	probably null
R6523:Coasy	UTSW	11	100,976,944 (GRCm39)	missense	probably damaging	1.00
R6696:Coasy	UTSW	11	100,973,927 (GRCm39)	missense	possibly damaging	0.68
R6931:Coasy	UTSW	11	100,974,407 (GRCm39)	missense	probably benign
R7925:Coasy	UTSW	11	100,974,522 (GRCm39)	missense	probably benign
R8917:Coasy	UTSW	11	100,974,202 (GRCm39)	missense	probably benign	0.00
R9533:Coasy	UTSW	11	100,975,852 (GRCm39)	missense	probably benign
R9773:Coasy	UTSW	11	100,975,163 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCACCTAGGACAGCATTTG -3'
(R):5'- TCAGAACCACGTTGCTCTG -3'

Sequencing Primer
(F):5'- CATTTGGTGCGCTGACAGGC -3'
(R):5'- AGAACCACGTTGCTCTGCTCTAC -3'

Posted On

2014-10-16