Incidental Mutation 'IGL02438:Ppcs'
| ID |
293364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppcs
|
| Ensembl Gene |
ENSMUSG00000028636 |
| Gene Name |
phosphopantothenoylcysteine synthetase |
| Synonyms |
6330579B17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
IGL02438
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
119275727-119279617 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 119278889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030385]
[ENSMUST00000094819]
[ENSMUST00000106316]
|
| AlphaFold |
Q8VDG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030385
|
| SMART Domains |
Protein: ENSMUSP00000030385
Gene: ENSMUSG00000028636
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DFP
|
33 |
96 |
1.2e-9 |
PFAM |
|
Pfam:DFP
|
117 |
276 |
8.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094819
|
| SMART Domains |
Protein: ENSMUSP00000092414
Gene: ENSMUSG00000070806
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-MYND
|
17 |
54 |
1.2e-10 |
PFAM |
|
low complexity region
|
70 |
87 |
N/A |
INTRINSIC |
|
Blast:TPR
|
88 |
121 |
2e-14 |
BLAST |
|
Pfam:TPR_8
|
130 |
157 |
3.9e-3 |
PFAM |
|
Pfam:TPR_8
|
172 |
196 |
1.5e-2 |
PFAM |
|
Blast:TPR
|
214 |
247 |
2e-13 |
BLAST |
|
low complexity region
|
305 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106316
|
| SMART Domains |
Protein: ENSMUSP00000101923
Gene: ENSMUSG00000028636
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DFP
|
1 |
107 |
5.2e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134147
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140641
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
T |
C |
5: 121,639,101 (GRCm39) |
N648S |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,792,841 (GRCm39) |
I285M |
possibly damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,233,758 (GRCm39) |
F291S |
probably benign |
Het |
| Gm6619 |
T |
C |
6: 131,467,398 (GRCm39) |
S88P |
possibly damaging |
Het |
| Ist1 |
A |
G |
8: 110,402,002 (GRCm39) |
|
probably benign |
Het |
| Muc13 |
T |
A |
16: 33,628,350 (GRCm39) |
S367T |
possibly damaging |
Het |
| Necab3 |
T |
A |
2: 154,387,964 (GRCm39) |
D284V |
probably damaging |
Het |
| Nit2 |
G |
A |
16: 56,981,511 (GRCm39) |
Q83* |
probably null |
Het |
| Slc26a2 |
G |
T |
18: 61,335,289 (GRCm39) |
H55N |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Trmt2b |
C |
A |
X: 133,143,832 (GRCm39) |
V219L |
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,292,062 (GRCm39) |
D27G |
possibly damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,601,824 (GRCm39) |
F605L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,744 (GRCm39) |
L381P |
probably damaging |
Het |
|
| Other mutations in Ppcs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0788:Ppcs
|
UTSW |
4 |
119,279,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2285:Ppcs
|
UTSW |
4 |
119,276,174 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4260:Ppcs
|
UTSW |
4 |
119,279,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4261:Ppcs
|
UTSW |
4 |
119,279,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4817:Ppcs
|
UTSW |
4 |
119,276,343 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5061:Ppcs
|
UTSW |
4 |
119,276,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6774:Ppcs
|
UTSW |
4 |
119,276,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6962:Ppcs
|
UTSW |
4 |
119,279,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Ppcs
|
UTSW |
4 |
119,276,262 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8009:Ppcs
|
UTSW |
4 |
119,276,262 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8818:Ppcs
|
UTSW |
4 |
119,279,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Ppcs
|
UTSW |
4 |
119,279,397 (GRCm39) |
nonsense |
probably null |
|
|
R9239:Ppcs
|
UTSW |
4 |
119,276,235 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Posted On |
2015-04-16 |
Incidental Mutation