Incidental Mutation 'R6696:Coasy'
ID 528594
Institutional Source Beutler Lab
Gene Symbol Coasy
Ensembl Gene ENSMUSG00000001755
Gene Name Coenzyme A synthase
Synonyms 1300003G02Rik, Ppat, Dpck, Ukr1
MMRRC Submission 044814-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R6696 (G1)
Quality Score 208.009
Status Validated
Chromosome 11
Chromosomal Location 100973391-100977445 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100973927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 31 (R31L)
Ref Sequence ENSEMBL: ENSMUSP00000102929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001806] [ENSMUST00000017945] [ENSMUST00000019445] [ENSMUST00000107302] [ENSMUST00000107303] [ENSMUST00000107308] [ENSMUST00000149597]
AlphaFold Q9DBL7
Predicted Effect possibly damaging
Transcript: ENSMUST00000001806
AA Change: R31L

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755
AA Change: R31L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
HLH 81 139 8.13e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107303
SMART Domains Protein: ENSMUSP00000102924
Gene: ENSMUSG00000017801

DomainStartEndE-ValueType
low complexity region 20 32 N/A INTRINSIC
HLH 51 109 8.13e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107308
AA Change: R31L

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755
AA Change: R31L

DomainStartEndE-ValueType
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: ENSMUST00000151686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151056
Predicted Effect probably benign
Transcript: ENSMUST00000149597
SMART Domains Protein: ENSMUSP00000121600
Gene: ENSMUSG00000017801

DomainStartEndE-ValueType
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 0.1197 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap25 G T 6: 87,442,633 (GRCm39) H350Q probably damaging Het
Arhgap25 C A 6: 87,443,545 (GRCm39) V305F probably damaging Het
Atg3 A T 16: 44,995,644 (GRCm39) I126F possibly damaging Het
Best2 A T 8: 85,737,873 (GRCm39) L174* probably null Het
Ccdc134 T A 15: 82,015,722 (GRCm39) D67E probably damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dhrs7l C T 12: 72,666,255 (GRCm39) A139T possibly damaging Het
Eipr1 C A 12: 28,909,357 (GRCm39) T208N probably benign Het
Epha2 A G 4: 141,048,850 (GRCm39) T606A probably benign Het
Fan1 A T 7: 63,999,826 (GRCm39) I853N probably damaging Het
Fbxw18 A C 9: 109,517,832 (GRCm39) S385A probably benign Het
Galnt11 T C 5: 25,460,112 (GRCm39) V307A probably benign Het
Gata3 A T 2: 9,879,303 (GRCm39) Y224* probably null Het
Gm527 T C 12: 64,967,866 (GRCm39) M96T possibly damaging Het
Hivep2 T C 10: 14,009,503 (GRCm39) F1720S probably benign Het
Hltf T G 3: 20,119,470 (GRCm39) probably null Het
Imp4 T C 1: 34,483,327 (GRCm39) V247A probably benign Het
Iqca1 G A 1: 90,057,922 (GRCm39) T259I probably benign Het
Klra6 A G 6: 129,993,696 (GRCm39) F192L probably benign Het
Lnp1 T C 16: 56,748,149 (GRCm39) K48E possibly damaging Het
Lrp4 A G 2: 91,327,690 (GRCm39) D1513G probably benign Het
Lrrc25 G A 8: 71,071,015 (GRCm39) probably null Het
Macf1 T A 4: 123,403,596 (GRCm39) Y590F probably damaging Het
Mms19 C A 19: 41,942,452 (GRCm39) V359L probably benign Het
Mns1 G A 9: 72,360,044 (GRCm39) R398Q probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nme3 G T 17: 25,116,268 (GRCm39) C158F possibly damaging Het
Pam T A 1: 97,813,452 (GRCm39) H326L possibly damaging Het
Plcxd1 A G 5: 110,249,751 (GRCm39) N151S possibly damaging Het
Prep A T 10: 45,029,174 (GRCm39) N525Y probably damaging Het
Rab11fip5 T C 6: 85,318,928 (GRCm39) I654V possibly damaging Het
Sbf2 T A 7: 110,159,505 (GRCm39) Q35L probably benign Het
Shcbp1 A G 8: 4,789,262 (GRCm39) F519S probably damaging Het
Slc18a3 T C 14: 32,186,270 (GRCm39) I38V possibly damaging Het
Slc5a2 A T 7: 127,869,215 (GRCm39) I332F probably damaging Het
Slc7a7 C T 14: 54,615,218 (GRCm39) probably null Het
Srbd1 C T 17: 86,446,619 (GRCm39) V47I possibly damaging Het
Synj1 C G 16: 90,757,340 (GRCm39) V877L probably damaging Het
Tgfbr3 C T 5: 107,284,796 (GRCm39) V618I probably benign Het
Tmem191 C T 16: 17,100,886 (GRCm39) probably null Het
Tmem67 C A 4: 12,061,754 (GRCm39) probably null Het
Tmem94 C T 11: 115,682,814 (GRCm39) A617V probably damaging Het
Vmn1r71 T A 7: 10,482,401 (GRCm39) I96F probably damaging Het
Vmn2r7 A T 3: 64,614,495 (GRCm39) F440I probably benign Het
Wdr7 A G 18: 63,872,401 (GRCm39) Q445R probably benign Het
Wnk1 A G 6: 119,925,243 (GRCm39) L1407P probably damaging Het
Other mutations in Coasy
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGGATTCCGGTTTCTATCAGC -3'
(R):5'- CAGTAGAATTCTGACGTCCAGG -3'

Sequencing Primer
(F):5'- GATTCCGGTTTCTATCAGCGAACG -3'
(R):5'- AATTCTGACGTCCAGGTGCCTG -3'
Posted On 2018-07-24