Mutagenetix > Incidental Mutation

Incidental Mutation 'R9773:Coasy'

733545

Institutional Source

Beutler Lab

Gene Symbol

Coasy

Ensembl Gene

ENSMUSG00000001755

Gene Name

Coenzyme A synthase

Synonyms

1300003G02Rik, Ppat, Dpck, Ukr1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R9773 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100973391-100977445 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100975163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 240 (L240P)

Ref Sequence

ENSEMBL: ENSMUSP00000001806 (fasta)

Gene Model

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

AlphaFold

Q9DBL7

PDB Structure

Crystal structure of Bifunctional coenzyme A synthase (CoA synthase): (18044849) from MUS MUSCULUS at 1.70 A resolution [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000001806
AA Change: L240P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755
AA Change: L240P

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: L240P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755
AA Change: L240P

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,668,057 (GRCm39)	Y483H	possibly damaging	Het
Abca17	A	G	17: 24,508,565 (GRCm39)	L990P	probably damaging	Het
Ankrd65	A	C	4: 155,877,424 (GRCm39)	T312P	probably damaging	Het
Atp23	G	A	10: 126,734,763 (GRCm39)	T103M	possibly damaging	Het
Bmpr2	T	A	1: 59,907,497 (GRCm39)	S863R	probably damaging	Het
Cacna1c	T	A	6: 118,647,371 (GRCm39)	N992I		Het
Cacnb2	A	G	2: 14,976,452 (GRCm39)	E291G	probably damaging	Het
Calcrl	T	C	2: 84,200,462 (GRCm39)	Q106R	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cngb1	G	A	8: 95,975,042 (GRCm39)	H1144Y	probably damaging	Het
Cnot4	A	T	6: 35,056,920 (GRCm39)	N50K	probably damaging	Het
D7Ertd443e	G	A	7: 133,959,803 (GRCm39)	T12M	probably benign	Het
Exoc3l2	A	G	7: 19,203,697 (GRCm39)	I96M		Het
Fbn2	A	G	18: 58,143,481 (GRCm39)	L2858P	probably benign	Het
Fbxw21	A	G	9: 108,977,128 (GRCm39)	S194P	possibly damaging	Het
Fry	T	C	5: 150,322,728 (GRCm39)	L1040P	probably damaging	Het
Gimap8	C	T	6: 48,633,568 (GRCm39)	P300S	unknown	Het
Gm10801	T	G	2: 98,494,345 (GRCm39)	F141V	probably benign	Het
Gm21903	G	A	17: 39,353,541 (GRCm39)	T25I	unknown	Het
Gucy2d	T	C	7: 98,099,048 (GRCm39)	V288A	possibly damaging	Het
Hs6st3	A	T	14: 120,106,948 (GRCm39)	D452V	probably benign	Het
Igkv5-43	T	A	6: 69,752,858 (GRCm39)	I75F	probably damaging	Het
Itgad	G	A	7: 127,789,222 (GRCm39)	R562H	probably damaging	Het
Kbtbd12	T	A	6: 88,524,744 (GRCm39)	D613V	probably damaging	Het
Kcnn2	A	G	18: 45,788,365 (GRCm39)	T363A	probably damaging	Het
Kyat3	A	G	3: 142,431,820 (GRCm39)	I213M	probably damaging	Het
Lrig2	A	T	3: 104,368,838 (GRCm39)	H948Q	probably benign	Het
Marchf7	C	T	2: 60,064,785 (GRCm39)	R354*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Myh4	C	T	11: 67,137,263 (GRCm39)	H495Y	probably damaging	Het
Or13a23-ps1	T	C	7: 140,118,649 (GRCm39)	V73A	probably benign	Het
Or4d10b	A	T	19: 12,036,939 (GRCm39)	M59K	possibly damaging	Het
Or6c69c	T	A	10: 129,910,360 (GRCm39)	I27N	possibly damaging	Het
Plcb2	T	C	2: 118,541,274 (GRCm39)	E1021G	probably damaging	Het
Plekhg2	G	A	7: 28,069,743 (GRCm39)	P97S	probably damaging	Het
Pon1	T	C	6: 5,177,339 (GRCm39)	Y190C	possibly damaging	Het
Pth1r	C	A	9: 110,556,233 (GRCm39)	R213S	possibly damaging	Het
Ptprg	A	G	14: 12,199,806 (GRCm38)	D848G	probably damaging	Het
Rnpepl1	C	A	1: 92,847,559 (GRCm39)	D715E	probably damaging	Het
Serpinb3b	C	A	1: 107,085,416 (GRCm39)	K108N	possibly damaging	Het
Slc1a1	C	T	19: 28,870,283 (GRCm39)	A94V	probably damaging	Het
Slc22a30	A	T	19: 8,321,754 (GRCm39)	Y437N	probably benign	Het
Slc2a7	C	T	4: 150,234,044 (GRCm39)	T53I	possibly damaging	Het
Spag1	A	G	15: 36,234,711 (GRCm39)	T824A	probably benign	Het
Spmip7	G	A	11: 11,438,572 (GRCm39)	V272M	unknown	Het
Synj2	T	A	17: 6,094,232 (GRCm39)	Y1153N	probably benign	Het
Ttll2	A	T	17: 7,618,676 (GRCm39)	I417K	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Uevld	A	G	7: 46,597,659 (GRCm39)		probably null	Het
Vmn2r38	A	G	7: 9,097,806 (GRCm39)	S96P	probably damaging	Het
Vmn2r92	A	G	17: 18,386,949 (GRCm39)	N96S	probably damaging	Het
Vmn2r97	T	A	17: 19,168,221 (GRCm39)	I825N	probably benign	Het
Vps13d	T	A	4: 144,818,619 (GRCm39)	M3083L		Het
Wdr35	A	G	12: 9,039,990 (GRCm39)	N365S	probably benign	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
R2269:Coasy	UTSW	11	100,976,708 (GRCm39)	missense	probably benign	0.01
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

Predicted Primers

PCR Primer
(F):5'- TCTTGGAGTACACGTCAGCTC -3'
(R):5'- TTCGGGAGTTACATTCTCAAGGC -3'

Sequencing Primer
(F):5'- CGTCAGCTCTCAAAGTGACTGATG -3'
(R):5'- GAAGCGGTTGACAGCCATC -3'

Posted On

2022-11-14