Incidental Mutation 'R3684:Ppcdc'
| ID |
269474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppcdc
|
| Ensembl Gene |
ENSMUSG00000063849 |
| Gene Name |
phosphopantothenoylcysteine decarboxylase |
| Synonyms |
8430432M10Rik, 1810057I13Rik |
| MMRRC Submission |
040682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R3684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
57292378-57347407 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 57328408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085709]
[ENSMUST00000213194]
[ENSMUST00000213479]
[ENSMUST00000214065]
[ENSMUST00000214144]
[ENSMUST00000214166]
[ENSMUST00000214339]
[ENSMUST00000216365]
[ENSMUST00000215299]
[ENSMUST00000215883]
[ENSMUST00000214624]
|
| AlphaFold |
Q8BZB2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085709
|
| SMART Domains |
Protein: ENSMUSP00000082856
Gene: ENSMUSG00000063849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Flavoprotein
|
18 |
149 |
7.9e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213194
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213479
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214065
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214144
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214339
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216365
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217255
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214519
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
C |
T |
14: 68,819,447 (GRCm39) |
V17I |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,802,453 (GRCm39) |
S1782P |
probably damaging |
Het |
| Btbd9 |
T |
A |
17: 30,553,281 (GRCm39) |
N394Y |
probably damaging |
Het |
| Calb2 |
A |
G |
8: 110,883,620 (GRCm39) |
Y35H |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,622,687 (GRCm39) |
T588A |
probably benign |
Het |
| Cfap126 |
T |
C |
1: 170,941,600 (GRCm39) |
S32P |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
| Dok3 |
A |
G |
13: 55,672,306 (GRCm39) |
S154P |
probably damaging |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gldn |
G |
A |
9: 54,245,624 (GRCm39) |
E392K |
possibly damaging |
Het |
| Gls |
A |
T |
1: 52,205,452 (GRCm39) |
D447E |
probably damaging |
Het |
| Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Jchain |
G |
A |
5: 88,670,398 (GRCm39) |
P74S |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,910 (GRCm39) |
V236A |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,325,260 (GRCm39) |
S954P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,021,098 (GRCm39) |
N1725S |
probably benign |
Het |
| Rhobtb3 |
A |
G |
13: 76,087,600 (GRCm39) |
I129T |
probably damaging |
Het |
| Sfxn2 |
A |
G |
19: 46,579,592 (GRCm39) |
R252G |
probably benign |
Het |
| Sh2d2a |
C |
A |
3: 87,759,027 (GRCm39) |
|
probably null |
Het |
| Sh3gl1 |
T |
C |
17: 56,325,953 (GRCm39) |
K159E |
possibly damaging |
Het |
| Slc7a9 |
A |
G |
7: 35,152,926 (GRCm39) |
T115A |
probably benign |
Het |
| Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,078,718 (GRCm39) |
D1020V |
probably damaging |
Het |
| Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
| Tmem127 |
T |
A |
2: 127,090,652 (GRCm39) |
I56N |
possibly damaging |
Het |
| Traj7 |
A |
G |
14: 54,448,938 (GRCm39) |
|
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,184,620 (GRCm39) |
F627L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,510,937 (GRCm39) |
N514I |
possibly damaging |
Het |
| Uvrag |
A |
T |
7: 98,637,427 (GRCm39) |
C341S |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,189,531 (GRCm39) |
D459G |
probably benign |
Het |
|
| Other mutations in Ppcdc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Ppcdc
|
APN |
9 |
57,322,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0945:Ppcdc
|
UTSW |
9 |
57,327,441 (GRCm39) |
splice site |
probably null |
|
|
R1666:Ppcdc
|
UTSW |
9 |
57,321,998 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4223:Ppcdc
|
UTSW |
9 |
57,321,998 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4821:Ppcdc
|
UTSW |
9 |
57,342,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5121:Ppcdc
|
UTSW |
9 |
57,328,446 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5236:Ppcdc
|
UTSW |
9 |
57,321,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7034:Ppcdc
|
UTSW |
9 |
57,322,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Ppcdc
|
UTSW |
9 |
57,321,958 (GRCm39) |
missense |
probably benign |
|
|
R7591:Ppcdc
|
UTSW |
9 |
57,342,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7835:Ppcdc
|
UTSW |
9 |
57,327,559 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8942:Ppcdc
|
UTSW |
9 |
57,342,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8944:Ppcdc
|
UTSW |
9 |
57,342,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9324:Ppcdc
|
UTSW |
9 |
57,342,280 (GRCm39) |
missense |
probably benign |
|
|
R9378:Ppcdc
|
UTSW |
9 |
57,327,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGCTCTGCCTAAGGAAG -3'
(R):5'- TGAGGAGAGCATCTGCCTTC -3'
Sequencing Primer
(F):5'- CCTAAGGAAGGCGGTACCAC -3'
(R):5'- CTGTACTGGCCCTCATGTGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation