Incidental Mutation 'IGL02364:Coasy'
| ID |
290655 |
| 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: 0.916)
|
| Stock # |
IGL02364
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100973391-100977445 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100975184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 247
(V247A)
|
| 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: V247A
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755
AA Change: V247A
| 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 |
possibly damaging
Transcript: ENSMUST00000107308
AA Change: V247A
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755
AA Change: V247A
| 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: ENSMUST00000145187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149411
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151056
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdp1 |
A |
T |
13: 100,191,816 (GRCm39) |
|
probably benign |
Het |
| Car8 |
T |
C |
4: 8,183,321 (GRCm39) |
I225V |
probably benign |
Het |
| Cc2d2a |
T |
A |
5: 43,892,792 (GRCm39) |
N1390K |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,804,310 (GRCm39) |
V50A |
probably benign |
Het |
| Dixdc1 |
A |
T |
9: 50,593,931 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
G |
A |
9: 54,301,127 (GRCm39) |
A2328V |
probably benign |
Het |
| Exoc3l |
C |
A |
8: 106,017,209 (GRCm39) |
V593L |
possibly damaging |
Het |
| Eya3 |
T |
C |
4: 132,437,366 (GRCm39) |
S409P |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 190,895,713 (GRCm39) |
N310S |
probably benign |
Het |
| Gbp4 |
A |
T |
5: 105,284,740 (GRCm39) |
S50T |
probably damaging |
Het |
| Gm5885 |
A |
G |
6: 133,507,092 (GRCm39) |
|
noncoding transcript |
Het |
| H2ap |
G |
T |
X: 9,713,629 (GRCm39) |
|
probably benign |
Het |
| Igkv12-89 |
A |
T |
6: 68,811,970 (GRCm39) |
Y66* |
probably null |
Het |
| Itgax |
G |
A |
7: 127,739,154 (GRCm39) |
V601M |
possibly damaging |
Het |
| Kank3 |
T |
C |
17: 34,037,824 (GRCm39) |
V291A |
probably benign |
Het |
| Klhl9 |
A |
G |
4: 88,639,407 (GRCm39) |
M278T |
probably damaging |
Het |
| Lrrc43 |
G |
A |
5: 123,639,275 (GRCm39) |
D435N |
possibly damaging |
Het |
| Ly75 |
A |
T |
2: 60,188,851 (GRCm39) |
S292T |
probably damaging |
Het |
| Mchr1 |
G |
A |
15: 81,121,480 (GRCm39) |
V77I |
probably benign |
Het |
| Mga |
T |
A |
2: 119,794,535 (GRCm39) |
C2622S |
possibly damaging |
Het |
| Neb |
G |
T |
2: 52,186,266 (GRCm39) |
Y935* |
probably null |
Het |
| Nt5el |
T |
A |
13: 105,218,808 (GRCm39) |
D47E |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,136,017 (GRCm39) |
E612G |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,271,007 (GRCm39) |
L3182P |
probably benign |
Het |
| Rnf130 |
T |
C |
11: 49,986,667 (GRCm39) |
V337A |
probably benign |
Het |
| Slfn10-ps |
T |
C |
11: 82,923,117 (GRCm39) |
|
noncoding transcript |
Het |
| Sorcs1 |
G |
A |
19: 50,322,036 (GRCm39) |
P249L |
probably damaging |
Het |
| Spata13 |
C |
T |
14: 60,928,723 (GRCm39) |
R94C |
probably damaging |
Het |
| Stk38 |
C |
T |
17: 29,210,390 (GRCm39) |
R63Q |
probably benign |
Het |
| Tmem220 |
C |
A |
11: 66,925,014 (GRCm39) |
H174N |
probably benign |
Het |
| Tmem68 |
C |
A |
4: 3,560,536 (GRCm39) |
R216L |
probably damaging |
Het |
| Trim29 |
G |
A |
9: 43,222,599 (GRCm39) |
V143M |
probably benign |
Het |
| Ubqln2 |
T |
C |
X: 152,282,906 (GRCm39) |
L486P |
possibly damaging |
Het |
| Usp17le |
G |
A |
7: 104,417,982 (GRCm39) |
Q387* |
probably null |
Het |
| Vps33b |
A |
G |
7: 79,937,587 (GRCm39) |
E445G |
probably damaging |
Het |
|
| Other mutations in Coasy |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
Incidental Mutation