Incidental Mutation 'IGL02633:Coasy'
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ID301400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coasy
Ensembl Gene ENSMUSG00000001755
Gene NameCoenzyme A synthase
SynonymsPpat, 1300003G02Rik, Ukr1, Dpck
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.921) question?
Stock #IGL02633
Quality Score
Status
Chromosome11
Chromosomal Location101082565-101086619 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101085321 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 425 (L425Q)
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: L425Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755
AA Change: L425Q

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 probably damaging
Transcript: ENSMUST00000107308
AA Change: L425Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755
AA Change: L425Q

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: 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

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151686
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T C 11: 53,409,371 probably benign Het
Ap1g2 T C 14: 55,100,647 probably null Het
Aspn A T 13: 49,551,887 Y75F possibly damaging Het
Atm G A 9: 53,448,153 T2783I probably damaging Het
Cacnb1 A T 11: 98,022,373 I18N probably damaging Het
Casr T C 16: 36,515,655 I97M probably damaging Het
Cnga2 T A X: 72,005,049 probably benign Het
Cps1 A G 1: 67,123,237 T25A probably benign Het
Dnah1 T C 14: 31,284,815 Y2181C probably benign Het
Efna3 A C 3: 89,315,442 S230A probably damaging Het
Eng A G 2: 32,673,274 I281V probably damaging Het
Erlec1 T A 11: 30,948,430 R14* probably null Het
Fam206a T C 4: 56,806,131 V181A possibly damaging Het
Gbp9 C T 5: 105,083,565 probably benign Het
Gzmg T C 14: 56,156,703 M245V probably damaging Het
Kdm5a A G 6: 120,364,719 I36V probably damaging Het
Krt83 A G 15: 101,491,214 V79A probably damaging Het
Limd1 A T 9: 123,479,922 probably benign Het
Lmo4 T C 3: 144,193,922 S155G probably benign Het
Mrpl44 G A 1: 79,776,145 V5I probably benign Het
Mrpl49 T C 19: 6,054,901 T146A possibly damaging Het
Mrpl58 T C 11: 115,410,631 probably benign Het
Nab1 C T 1: 52,490,133 V202M probably damaging Het
Nav3 T A 10: 109,692,136 M2229L probably benign Het
Notch2 C T 3: 98,116,697 probably benign Het
Nub1 A G 5: 24,692,933 I106V probably benign Het
Prom1 A T 5: 44,014,775 S595T probably benign Het
Rbfox1 T A 16: 7,292,214 S165R probably damaging Het
Sipa1l2 G A 8: 125,447,768 T1257I probably damaging Het
Smarcc2 T C 10: 128,469,687 S327P probably damaging Het
Tdpoz1 T C 3: 93,670,749 M243V probably benign Het
Ttn G T 2: 76,718,945 T23469K probably damaging Het
Ube2u T C 4: 100,482,774 probably benign Het
Umodl1 T C 17: 30,989,488 Y836H probably damaging Het
Vmn2r45 A G 7: 8,485,729 Y101H probably benign Het
Vps13a T A 19: 16,720,408 Q781L possibly damaging Het
Vwce G A 19: 10,648,494 V457M probably damaging Het
Other mutations in Coasy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02364:Coasy APN 11 101084358 missense possibly damaging 0.76
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
R5037:Coasy UTSW 11 101084822 missense probably damaging 1.00
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
Posted On2015-04-16