Mutagenetix > Incidental Mutations

Incidental Mutation 'R5037:Coasy'

389586

Institutional Source

Beutler Lab

Gene Symbol

Coasy

Ensembl Gene

ENSMUSG00000001755

Gene Name

Coenzyme A synthase

Synonyms

Ppat, 1300003G02Rik, Ukr1, Dpck

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R5037 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101082565-101086619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101084822 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 327 (E327G)

Ref Sequence

ENSEMBL: ENSMUSP00000102929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001806] [ENSMUST00000017945] [ENSMUST00000019445] [ENSMUST00000107302] [ENSMUST00000107303] [ENSMUST00000107308] [ENSMUST00000149597]

Predicted Effect

probably damaging
Transcript: ENSMUST00000001806
AA Change: E327G

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

SMART Domains

Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755
AA Change: E327G

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: ENSMUST00000019445

SMART Domains

Protein: ENSMUSP00000019445
Gene: ENSMUSG00000019301

Domain	Start	End	E-Value	Type
Pfam:KR	4	174	3.5e-9	PFAM
Pfam:adh_short	4	200	1.6e-37	PFAM

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 damaging
Transcript: ENSMUST00000107308
AA Change: E327G

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

SMART Domains

Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755
AA Change: E327G

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: ENSMUST00000149411

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151686

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	A	4: 42,972,195	H509Q	probably benign	Het
6430531B16Rik	A	T	7: 139,978,674	S3R	possibly damaging	Het
Btaf1	T	C	19: 37,003,531	V1584A	probably damaging	Het
Ccdc136	A	T	6: 29,417,123	S648C	probably damaging	Het
Ccna2	A	G	3: 36,571,003		probably benign	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Cenpf	T	C	1: 189,683,846	E94G	probably damaging	Het
Clic1	G	A	17: 35,055,259	V139I	probably benign	Het
Col6a5	C	T	9: 105,928,138	E1190K	unknown	Het
Cyp2c70	A	G	19: 40,183,997	V67A	possibly damaging	Het
Dglucy	A	G	12: 100,835,241	S52G	probably benign	Het
Dync1h1	A	G	12: 110,640,907	N2644S	probably benign	Het
Eif4g2	A	T	7: 111,077,032	N347K	probably benign	Het
Epha10	T	C	4: 124,915,385		probably benign	Het
Epm2aip1	T	C	9: 111,272,150	F64L	probably benign	Het
Eri2	G	A	7: 119,785,674	L535F	probably benign	Het
Fam71e2	T	G	7: 4,758,576	K379T	possibly damaging	Het
Gm17430	T	C	18: 9,726,561	E37G	probably benign	Het
Heatr5b	T	A	17: 78,824,510	Q388L	probably benign	Het
Htr1f	A	G	16: 64,925,928	W334R	probably damaging	Het
Icam4	A	T	9: 21,029,641	C717*	probably null	Het
Iqgap1	A	C	7: 80,734,100	L1072W	probably damaging	Het
Kbtbd11	G	T	8: 15,027,886	A162S	probably benign	Het
Kif13b	T	G	14: 64,758,589	Y941*	probably null	Het
Kndc1	T	C	7: 139,910,455	V291A	possibly damaging	Het
Lrrn3	A	T	12: 41,453,595	I241N	probably damaging	Het
Macf1	A	G	4: 123,455,519	S2387P	probably damaging	Het
Msh5	A	G	17: 35,032,393	L451S	possibly damaging	Het
Mthfd1	T	G	12: 76,294,140	F258V	probably damaging	Het
Ncstn	C	T	1: 172,068,626	R495H	probably damaging	Het
Olfr730	T	G	14: 50,186,288	T310P	probably benign	Het
Pkd1l3	T	A	8: 109,665,636	I1954N	probably damaging	Het
Ppox	C	A	1: 171,277,596	V340L	probably damaging	Het
Prkag1	T	C	15: 98,815,887	T21A	possibly damaging	Het
Pygo1	C	A	9: 72,944,917	H129N	probably damaging	Het
Rad9a	A	T	19: 4,197,174	C271S	probably benign	Het
Raph1	T	C	1: 60,496,222		probably null	Het
Reln	A	G	5: 21,948,512	F2265L	probably damaging	Het
Shc4	A	G	2: 125,629,727	I304T	probably damaging	Het
Slc35f3	T	A	8: 126,389,272	L313M	probably damaging	Het
Sycp2l	T	A	13: 41,129,861	M191K	possibly damaging	Het
Tmem132c	C	A	5: 127,553,135	Q579K	probably benign	Het
Trbj2-5	A	G	6: 41,543,460		probably benign	Het
Ttc38	A	G	15: 85,844,540	E231G	probably benign	Het
Utp20	A	G	10: 88,775,330	V1375A	probably benign	Het
Vcan	T	A	13: 89,703,977	T955S	probably damaging	Het
Vmn1r89	T	C	7: 13,219,387	C17R	possibly damaging	Het
Wnk1	A	G	6: 119,965,735		probably benign	Het
Zfp667	T	G	7: 6,305,950	I539S	possibly damaging	Het
Zfp738	T	A	13: 67,670,201	H557L	probably damaging	Het

Other mutations in Coasy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02364:Coasy	APN	11	101084358	missense	possibly damaging	0.76
IGL02633:Coasy	APN	11	101085321	missense	probably damaging	1.00
R0946:Coasy	UTSW	11	101085870	missense	probably damaging	0.96
R1434:Coasy	UTSW	11	101084996	unclassified	probably benign
R2269:Coasy	UTSW	11	101085882	missense	probably benign	0.01
R2881:Coasy	UTSW	11	101085849	missense	possibly damaging	0.90
R5791:Coasy	UTSW	11	101084385	unclassified	probably null
R6523:Coasy	UTSW	11	101086118	missense	probably damaging	1.00
R6696:Coasy	UTSW	11	101083101	missense	possibly damaging	0.68
R6931:Coasy	UTSW	11	101083581	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTCAGGGTGGAAGAACTTGTC -3'
(R):5'- GCCTCTCCTAAAGACAGGTAAG -3'

Sequencing Primer
(F):5'- CTTGTCTTGTCAAGTTCAGGAAC -3'
(R):5'- TCTCCTAAAGACAGGTAAGAGGGAAC -3'

Posted On

2016-06-06