Incidental Mutation 'R0946:Coasy'
| ID |
82120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coasy
|
| Ensembl Gene |
ENSMUSG00000001755 |
| Gene Name |
Coenzyme A synthase |
| Synonyms |
1300003G02Rik, Ppat, Dpck, Ukr1 |
| MMRRC Submission |
039085-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R0946 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100973391-100977445 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100976696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 489
(V489F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001806]
[ENSMUST00000017945]
[ENSMUST00000107302]
[ENSMUST00000107303]
[ENSMUST00000107308]
[ENSMUST00000149597]
|
| AlphaFold |
Q9DBL7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001806
AA Change: V489F
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755
AA Change: V489F
| 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: 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: V489F
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755
AA Change: V489F
| 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: ENSMUST00000143344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149411
|
| 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230112D13Rik |
A |
G |
14: 34,234,099 (GRCm39) |
M64T |
unknown |
Het |
| Adamts15 |
C |
T |
9: 30,813,493 (GRCm39) |
G891R |
probably damaging |
Het |
| Adck5 |
G |
A |
15: 76,477,486 (GRCm39) |
V107I |
possibly damaging |
Het |
| Aoc3 |
G |
A |
11: 101,223,131 (GRCm39) |
V456M |
possibly damaging |
Het |
| Apbb1 |
A |
T |
7: 105,223,062 (GRCm39) |
L183Q |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,654,442 (GRCm39) |
H693R |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,406,509 (GRCm39) |
T414A |
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,795,581 (GRCm39) |
V387A |
probably benign |
Het |
| Ercc6 |
A |
T |
14: 32,274,578 (GRCm39) |
M574L |
probably benign |
Het |
| Esrrb |
T |
C |
12: 86,552,598 (GRCm39) |
L180P |
probably damaging |
Het |
| Fam83b |
A |
T |
9: 76,398,679 (GRCm39) |
V808D |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,909,100 (GRCm39) |
V2301I |
possibly damaging |
Het |
| Ftdc1 |
C |
A |
16: 58,435,075 (GRCm39) |
R83S |
probably damaging |
Het |
| Hyal4 |
T |
A |
6: 24,755,912 (GRCm39) |
Y43* |
probably null |
Het |
| Hydin |
C |
A |
8: 111,257,685 (GRCm39) |
L2372M |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,459,809 (GRCm39) |
V145A |
probably benign |
Het |
| Lypd10 |
A |
G |
7: 24,413,167 (GRCm39) |
K162R |
probably benign |
Het |
| Muc21 |
A |
C |
17: 35,929,105 (GRCm39) |
S1581A |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,142,577 (GRCm39) |
I913V |
possibly damaging |
Het |
| Nat10 |
C |
T |
2: 103,561,719 (GRCm39) |
G654D |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,970,719 (GRCm39) |
|
probably null |
Het |
| Nup50l |
A |
T |
6: 96,142,677 (GRCm39) |
N122K |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,907,128 (GRCm39) |
Y503C |
unknown |
Het |
| Or11g7 |
C |
A |
14: 50,691,130 (GRCm39) |
T207K |
probably benign |
Het |
| Pappa |
G |
T |
4: 65,233,029 (GRCm39) |
|
probably null |
Het |
| Pfas |
A |
G |
11: 68,884,121 (GRCm39) |
|
probably null |
Het |
| Pfas |
G |
T |
11: 68,881,573 (GRCm39) |
|
probably null |
Het |
| Pign |
A |
T |
1: 105,519,422 (GRCm39) |
M500K |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,269,605 (GRCm39) |
K3313R |
probably benign |
Het |
| Ptk2b |
A |
G |
14: 66,396,047 (GRCm39) |
V807A |
probably benign |
Het |
| Ptpdc1 |
C |
T |
13: 48,740,286 (GRCm39) |
E382K |
probably damaging |
Het |
| Rfpl4b |
A |
T |
10: 38,696,833 (GRCm39) |
I256N |
probably benign |
Het |
| Skap1 |
C |
G |
11: 96,432,295 (GRCm39) |
S88* |
probably null |
Het |
| Slc4a2 |
T |
C |
5: 24,640,884 (GRCm39) |
S742P |
probably damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,265,599 (GRCm39) |
D647G |
probably damaging |
Het |
| Tmem184c |
A |
C |
8: 78,331,386 (GRCm39) |
V121G |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,507,421 (GRCm39) |
I118V |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,554,588 (GRCm39) |
Y446* |
probably null |
Het |
| Trim37 |
A |
G |
11: 87,037,781 (GRCm39) |
R172G |
probably damaging |
Het |
| Vgll4 |
C |
A |
6: 114,867,768 (GRCm39) |
|
probably null |
Het |
| Vgll4 |
T |
A |
6: 114,867,769 (GRCm39) |
|
probably null |
Het |
| Vmn1r5 |
T |
G |
6: 56,963,150 (GRCm39) |
I275S |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,187,874 (GRCm39) |
H584Q |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp282 |
T |
A |
6: 47,856,943 (GRCm39) |
W59R |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
| Zswim2 |
T |
A |
2: 83,754,103 (GRCm39) |
T186S |
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 |
|
|
BB012:Coasy
|
UTSW |
11 |
100,974,522 (GRCm39) |
missense |
probably benign |
|
|
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'- AGTTAAGCCGCAACACCCTCTG -3'
(R):5'- AGAACCACGTTGCTCTGCTCTACC -3'
Sequencing Primer
(F):5'- GCAACACCCTCTGGGATCTTC -3'
(R):5'- TGCTGGCCGCTCATCTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation