Incidental Mutation 'IGL02633:Coasy'
ID |
301400 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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)
|
Stock # |
IGL02633
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
100973391-100977445 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100976147 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
Q9DBL7 |
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
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: L425Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102929 Gene: ENSMUSG00000001755 AA Change: L425Q
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 |
noncoding transcript
Transcript: ENSMUST00000151056
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145187
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149411
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143344
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151686
|
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abitram |
T |
C |
4: 56,806,131 (GRCm39) |
V181A |
possibly damaging |
Het |
Aff4 |
T |
C |
11: 53,300,198 (GRCm39) |
|
probably benign |
Het |
Ap1g2 |
T |
C |
14: 55,338,104 (GRCm39) |
|
probably null |
Het |
Aspn |
A |
T |
13: 49,705,363 (GRCm39) |
Y75F |
possibly damaging |
Het |
Atm |
G |
A |
9: 53,359,453 (GRCm39) |
T2783I |
probably damaging |
Het |
Cacnb1 |
A |
T |
11: 97,913,199 (GRCm39) |
I18N |
probably damaging |
Het |
Casr |
T |
C |
16: 36,336,017 (GRCm39) |
I97M |
probably damaging |
Het |
Cnga2 |
T |
A |
X: 71,048,655 (GRCm39) |
|
probably benign |
Het |
Cps1 |
A |
G |
1: 67,162,396 (GRCm39) |
T25A |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,006,772 (GRCm39) |
Y2181C |
probably benign |
Het |
Efna3 |
A |
C |
3: 89,222,749 (GRCm39) |
S230A |
probably damaging |
Het |
Eng |
A |
G |
2: 32,563,286 (GRCm39) |
I281V |
probably damaging |
Het |
Erlec1 |
T |
A |
11: 30,898,430 (GRCm39) |
R14* |
probably null |
Het |
Gbp9 |
C |
T |
5: 105,231,431 (GRCm39) |
|
probably benign |
Het |
Gzmg |
T |
C |
14: 56,394,160 (GRCm39) |
M245V |
probably damaging |
Het |
Kdm5a |
A |
G |
6: 120,341,680 (GRCm39) |
I36V |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,389,095 (GRCm39) |
V79A |
probably damaging |
Het |
Limd1 |
A |
T |
9: 123,308,987 (GRCm39) |
|
probably benign |
Het |
Lmo4 |
T |
C |
3: 143,899,683 (GRCm39) |
S155G |
probably benign |
Het |
Mrpl44 |
G |
A |
1: 79,753,862 (GRCm39) |
V5I |
probably benign |
Het |
Mrpl49 |
T |
C |
19: 6,104,931 (GRCm39) |
T146A |
possibly damaging |
Het |
Mrpl58 |
T |
C |
11: 115,301,457 (GRCm39) |
|
probably benign |
Het |
Nab1 |
C |
T |
1: 52,529,292 (GRCm39) |
V202M |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,527,997 (GRCm39) |
M2229L |
probably benign |
Het |
Notch2 |
C |
T |
3: 98,024,013 (GRCm39) |
|
probably benign |
Het |
Nub1 |
A |
G |
5: 24,897,931 (GRCm39) |
I106V |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,172,117 (GRCm39) |
S595T |
probably benign |
Het |
Rbfox1 |
T |
A |
16: 7,110,078 (GRCm39) |
S165R |
probably damaging |
Het |
Sipa1l2 |
G |
A |
8: 126,174,507 (GRCm39) |
T1257I |
probably damaging |
Het |
Smarcc2 |
T |
C |
10: 128,305,556 (GRCm39) |
S327P |
probably damaging |
Het |
Tdpoz1 |
T |
C |
3: 93,578,056 (GRCm39) |
M243V |
probably benign |
Het |
Ttn |
G |
T |
2: 76,549,289 (GRCm39) |
T23469K |
probably damaging |
Het |
Ube2u |
T |
C |
4: 100,339,971 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,208,462 (GRCm39) |
Y836H |
probably damaging |
Het |
Vmn2r45 |
A |
G |
7: 8,488,728 (GRCm39) |
Y101H |
probably benign |
Het |
Vps13a |
T |
A |
19: 16,697,772 (GRCm39) |
Q781L |
possibly damaging |
Het |
Vwce |
G |
A |
19: 10,625,858 (GRCm39) |
V457M |
probably damaging |
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 |
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 |
|
R9773:Coasy
|
UTSW |
11 |
100,975,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |