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)
|
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
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: R31L
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102929 Gene: ENSMUSG00000001755 AA Change: R31L
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: 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
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 |
|
Meta Mutation Damage Score |
0.1197 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |