Mutagenetix > Incidental Mutation

Incidental Mutation 'BB012:Coasy'

642728

Institutional Source

Beutler Lab

Gene Symbol

Coasy

Ensembl Gene

ENSMUSG00000001755

Gene Name

Coenzyme A synthase

Synonyms

1300003G02Rik, Ppat, Dpck, Ukr1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

BB012

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100973391-100977445 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 100974522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 229 (D229E)

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: D229E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755
AA Change: D229E

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: D229E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755
AA Change: D229E

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: 99.0%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,643,506 (GRCm39)	Q392*	probably null	Het
4933427D14Rik	A	C	11: 72,071,327 (GRCm39)	L473V	probably benign	Het
A930002H24Rik	A	T	17: 64,170,392 (GRCm39)	V132E	unknown	Het
Abcc2	A	G	19: 43,795,551 (GRCm39)	I436V	probably benign	Het
Ahr	G	A	12: 35,565,067 (GRCm39)	Q103*	probably null	Het
Asb15	T	A	6: 24,562,723 (GRCm39)	H228Q	probably benign	Het
Asphd1	T	A	7: 126,547,628 (GRCm39)	Y225F	probably damaging	Het
Atp2c1	A	G	9: 105,319,969 (GRCm39)	M468T	possibly damaging	Het
Brca1	A	G	11: 101,398,972 (GRCm39)	I1540T	probably benign	Het
Ccn5	G	C	2: 163,670,961 (GRCm39)	R156T	possibly damaging	Het
Cdh20	A	T	1: 104,912,473 (GRCm39)	I576F	probably damaging	Het
Chst11	T	A	10: 83,026,788 (GRCm39)	S72T	probably damaging	Het
Cldn17	T	G	16: 88,303,533 (GRCm39)	K65N	probably damaging	Het
Cldn22	T	C	8: 48,278,222 (GRCm39)	I220T	probably benign	Het
Colec10	T	C	15: 54,325,767 (GRCm39)	V199A	probably damaging	Het
Cpn2	G	T	16: 30,079,619 (GRCm39)	D27E	probably damaging	Het
F5	T	A	1: 164,003,935 (GRCm39)		probably null	Het
Fat3	C	T	9: 15,942,656 (GRCm39)	V1239I	possibly damaging	Het
Fbxl16	A	G	17: 26,035,880 (GRCm39)	N159S	probably benign	Het
Fhad1	A	G	4: 141,681,498 (GRCm39)	I514T	probably damaging	Het
Fras1	A	G	5: 96,929,443 (GRCm39)	K3949R	probably damaging	Het
Gm10800	AAAGAAAACTGAA	ACAAGAAAACTGAA	2: 98,497,378 (GRCm39)		probably null	Het
Grm3	T	A	5: 9,639,880 (GRCm39)	E55V	probably benign	Het
Itgbl1	G	A	14: 124,210,735 (GRCm39)	D478N	possibly damaging	Het
Kcnt2	T	A	1: 140,282,247 (GRCm39)	Y77*	probably null	Het
Kdm4c	T	C	4: 74,323,058 (GRCm39)	S997P	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lrrc28	T	C	7: 67,268,857 (GRCm39)	Y71C	probably damaging	Het
Lrrc45	T	A	11: 120,606,706 (GRCm39)	W203R	probably benign	Het
Lrrc66	A	T	5: 73,765,835 (GRCm39)	C403S	possibly damaging	Het
Ly6g6e	A	T	17: 35,296,894 (GRCm39)	E45V	probably damaging	Het
Mgam	C	T	6: 40,735,985 (GRCm39)	T1574I	probably damaging	Het
Msrb2	A	T	2: 19,388,091 (GRCm39)	M80L	probably benign	Het
Musk	T	A	4: 58,367,513 (GRCm39)	L592Q	probably damaging	Het
Nlrp4a	C	A	7: 26,150,011 (GRCm39)	N539K	probably benign	Het
Obscn	C	G	11: 59,003,381 (GRCm39)	E1306Q	probably benign	Het
Opalin	T	A	19: 41,052,242 (GRCm39)	*144C	probably null	Het
Or1e28-ps1	A	G	11: 73,615,362 (GRCm39)	S163P	unknown	Het
Or1l8	A	G	2: 36,817,371 (GRCm39)	F252L	possibly damaging	Het
Or4f4-ps1	A	G	2: 111,330,166 (GRCm39)	S190G	probably damaging	Het
Or9g4	T	C	2: 85,504,907 (GRCm39)	E196G		Het
Pgam2	T	A	11: 5,753,007 (GRCm39)	H196L	possibly damaging	Het
Pgls	T	C	8: 72,044,996 (GRCm39)	S46P	probably damaging	Het
Prrc2b	A	G	2: 32,094,127 (GRCm39)	E503G	probably damaging	Het
Prss45	T	C	9: 110,670,103 (GRCm39)	L304P	unknown	Het
Rbm20	T	A	19: 53,801,753 (GRCm39)	V87D	probably damaging	Het
Rskr	T	C	11: 78,182,449 (GRCm39)	L86P	probably damaging	Het
Serpinb8	T	C	1: 107,526,715 (GRCm39)	L85S	probably benign	Het
Sh2b2	A	T	5: 136,253,115 (GRCm39)	H352Q	probably benign	Het
Slc6a17	T	C	3: 107,403,056 (GRCm39)	I124V	probably damaging	Het
Smim10l1	G	A	6: 133,082,545 (GRCm39)	V31M	probably damaging	Het
Snx10	T	C	6: 51,557,301 (GRCm39)	S78P	probably benign	Het
Stard10	T	C	7: 100,991,838 (GRCm39)	V187A	probably damaging	Het
Svil	C	A	18: 5,118,357 (GRCm39)	D2146E	probably benign	Het
Tsc22d4	A	G	5: 137,749,627 (GRCm39)	D301G	probably null	Het
Ube3c	T	A	5: 29,851,429 (GRCm39)	I752N	probably damaging	Het
Wwc1	T	C	11: 35,734,990 (GRCm39)	M962V	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
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
R9773:Coasy	UTSW	11	100,975,163 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTATAAGGCCGGCTTCCC -3'
(R):5'- CAGAGTCCTTGGTTCCCATTTGG -3'

Sequencing Primer
(F):5'- CCGGTTGCCAGATCTCCAAG -3'
(R):5'- TTCAGTTAAAAAGTGACTGAACCCC -3'

Posted On

2020-08-01