Mutagenetix > Incidental Mutation

Incidental Mutation 'R8917:Coasy'

679012

Institutional Source

Beutler Lab

Gene Symbol

Coasy

Ensembl Gene

ENSMUSG00000001755

Gene Name

Coenzyme A synthase

Synonyms

1300003G02Rik, Ppat, Dpck, Ukr1

MMRRC Submission

068704-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R8917 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100973391-100977445 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100974202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 123 (S123G)

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 benign
Transcript: ENSMUST00000001806
AA Change: S123G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755
AA Change: S123G

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 benign
Transcript: ENSMUST00000107308
AA Change: S123G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755
AA Change: S123G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610528J11Rik	A	G	4: 118,386,490 (GRCm39)	M1V	probably null	Het
Acss3	T	C	10: 106,773,124 (GRCm39)	S621G	probably benign	Het
Adam1a	C	T	5: 121,657,145 (GRCm39)	R716Q	probably benign	Het
Ankrd26	G	T	6: 118,535,902 (GRCm39)	N177K	probably damaging	Het
Ankrd31	G	A	13: 96,969,212 (GRCm39)	V950I	probably damaging	Het
Ano4	A	G	10: 88,788,160 (GRCm39)	Y922H	probably damaging	Het
Axin2	A	T	11: 108,822,341 (GRCm39)	N298Y	probably damaging	Het
Celsr2	A	T	3: 108,303,882 (GRCm39)	M2392K	probably benign	Het
Cracdl	A	G	1: 37,676,993 (GRCm39)	V63A	probably damaging	Het
Ctla2a	A	T	13: 61,083,854 (GRCm39)	M26K	probably benign	Het
Cts8	A	T	13: 61,396,882 (GRCm39)		probably benign	Het
Cyp4a30b	C	A	4: 115,311,662 (GRCm39)	S110*	probably null	Het
Eif2ak4	A	G	2: 118,287,617 (GRCm39)	Y1195C	probably damaging	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Exoc6	A	G	19: 37,578,360 (GRCm39)	D401G	probably benign	Het
Fmo1	A	G	1: 162,663,773 (GRCm39)	V252A	probably benign	Het
Furin	T	C	7: 80,048,437 (GRCm39)	K28E	probably benign	Het
Gmip	T	A	8: 70,270,428 (GRCm39)	F713I	probably damaging	Het
Hyal6	T	C	6: 24,734,103 (GRCm39)	L12P	possibly damaging	Het
Ido1	T	C	8: 25,081,523 (GRCm39)	N144D	probably benign	Het
Igsf10	T	A	3: 59,226,888 (GRCm39)	T2262S	possibly damaging	Het
Insrr	T	C	3: 87,718,276 (GRCm39)	F923S	probably benign	Het
Kank1	G	T	19: 25,386,928 (GRCm39)	M200I	probably damaging	Het
Kctd15	A	G	7: 34,341,508 (GRCm39)	Y140H	probably damaging	Het
Kif3c	T	A	12: 3,416,690 (GRCm39)	I237N	probably damaging	Het
Klhl26	T	C	8: 70,905,455 (GRCm39)	S152G	possibly damaging	Het
Lce1k	C	A	3: 92,714,097 (GRCm39)	C29F	unknown	Het
Map1a	A	G	2: 121,131,791 (GRCm39)	E869G	possibly damaging	Het
Mcmbp	T	C	7: 128,300,281 (GRCm39)	E576G	probably benign	Het
Mrps22	A	G	9: 98,476,163 (GRCm39)	V231A	probably benign	Het
Myo1a	C	T	10: 127,551,534 (GRCm39)	L697F	possibly damaging	Het
Ncapd3	T	C	9: 26,999,297 (GRCm39)	V1291A	probably benign	Het
Nherf4	T	A	9: 44,160,141 (GRCm39)		probably benign	Het
Or9m1	A	T	2: 87,733,307 (GRCm39)	S238T	possibly damaging	Het
Pcdhb6	A	G	18: 37,468,431 (GRCm39)	T451A	possibly damaging	Het
Pi4ka	C	A	16: 17,130,310 (GRCm39)	W1032L		Het
Pkhd1l1	T	A	15: 44,396,403 (GRCm39)	I1975N	probably benign	Het
Pnpla6	T	C	8: 3,567,637 (GRCm39)	M115T	possibly damaging	Het
Poldip2	G	A	11: 78,412,667 (GRCm39)	R347Q	probably damaging	Het
Pramel18	G	A	4: 101,768,935 (GRCm39)	V429M	probably benign	Het
Rapgef6	C	T	11: 54,582,392 (GRCm39)	Q1440*	probably null	Het
Rtn3	A	T	19: 7,434,105 (GRCm39)	I629K	possibly damaging	Het
Selenov	A	G	7: 27,987,728 (GRCm39)	F278L	probably damaging	Het
Skor2	G	A	18: 76,948,504 (GRCm39)	G742D	probably damaging	Het
Spata31d1c	C	T	13: 65,183,429 (GRCm39)	P324S	probably benign	Het
Tbc1d14	A	T	5: 36,676,682 (GRCm39)	I403N	probably damaging	Het
Tekt3	A	T	11: 62,978,052 (GRCm39)	Q374L	probably damaging	Het
Tg	T	C	15: 66,645,332 (GRCm39)		probably null	Het
Thnsl2	T	C	6: 71,116,927 (GRCm39)	D75G	probably benign	Het
Tnr	A	T	1: 159,701,692 (GRCm39)	K598*	probably null	Het
Tshr	T	A	12: 91,468,829 (GRCm39)		probably benign	Het
Uggt1	A	G	1: 36,185,735 (GRCm39)	S1483P		Het
Usp42	T	C	5: 143,701,695 (GRCm39)	E776G		Het
Vmn2r118	T	C	17: 55,917,216 (GRCm39)	E432G	possibly damaging	Het
Vmn2r-ps158	T	C	7: 42,697,433 (GRCm39)	I830T	probably damaging	Het
Zfhx4	A	G	3: 5,464,159 (GRCm39)	E1464G	probably damaging	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zxdc	A	G	6: 90,359,305 (GRCm39)	T646A	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
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'- GGATTTCATCACGCACCTCTAC -3'
(R):5'- TGCAAGCGGTCAAAAGTGC -3'

Sequencing Primer
(F):5'- TCTACACTGGTGCCGACCTG -3'
(R):5'- TGCCTTGGAGATCTGGCAAC -3'

Posted On

2021-08-02