Incidental Mutation 'IGL00834:Ppcdc'
ID |
13108 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppcdc
|
Ensembl Gene |
ENSMUSG00000063849 |
Gene Name |
phosphopantothenoylcysteine decarboxylase |
Synonyms |
8430432M10Rik, 1810057I13Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
IGL00834
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
57292378-57347407 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57322423 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 159
(F159L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082856
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085709]
[ENSMUST00000213194]
[ENSMUST00000213479]
[ENSMUST00000214065]
[ENSMUST00000214144]
[ENSMUST00000214166]
[ENSMUST00000214339]
[ENSMUST00000214624]
[ENSMUST00000216365]
[ENSMUST00000215883]
|
AlphaFold |
Q8BZB2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085709
AA Change: F159L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000082856 Gene: ENSMUSG00000063849 AA Change: F159L
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 benign
Transcript: ENSMUST00000214065
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214144
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214166
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214339
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215961
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214624
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216365
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217255
|
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. 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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
A |
G |
13: 4,562,664 (GRCm39) |
|
probably null |
Het |
Alg5 |
T |
C |
3: 54,652,140 (GRCm39) |
|
probably benign |
Het |
App |
A |
T |
16: 84,762,599 (GRCm39) |
F675I |
probably damaging |
Het |
Atad1 |
C |
A |
19: 32,675,968 (GRCm39) |
C152F |
probably benign |
Het |
Atp2a3 |
A |
C |
11: 72,873,613 (GRCm39) |
I829L |
probably damaging |
Het |
B3galt1 |
C |
T |
2: 67,949,050 (GRCm39) |
S255L |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,964,754 (GRCm39) |
V1417A |
possibly damaging |
Het |
Cast |
T |
A |
13: 74,885,093 (GRCm39) |
T219S |
probably damaging |
Het |
Cep95 |
A |
T |
11: 106,709,043 (GRCm39) |
I705F |
probably damaging |
Het |
Cnot3 |
C |
T |
7: 3,653,854 (GRCm39) |
A2V |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,840,204 (GRCm39) |
D1084G |
unknown |
Het |
Col5a3 |
G |
A |
9: 20,697,685 (GRCm39) |
Q873* |
probably null |
Het |
Cubn |
C |
T |
2: 13,386,738 (GRCm39) |
G1509D |
probably damaging |
Het |
Defb10 |
T |
A |
8: 22,351,952 (GRCm39) |
C66S |
possibly damaging |
Het |
Dennd4b |
T |
C |
3: 90,186,993 (GRCm39) |
|
probably null |
Het |
Dido1 |
G |
A |
2: 180,331,319 (GRCm39) |
T43M |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,506,091 (GRCm39) |
V3812I |
probably benign |
Het |
Islr2 |
T |
C |
9: 58,107,069 (GRCm39) |
T64A |
probably benign |
Het |
Kif2b |
A |
T |
11: 91,467,206 (GRCm39) |
I359N |
probably damaging |
Het |
Kit |
A |
C |
5: 75,806,619 (GRCm39) |
N704T |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,918,343 (GRCm39) |
F604L |
probably damaging |
Het |
Lrp5 |
A |
T |
19: 3,699,404 (GRCm39) |
F294I |
probably benign |
Het |
Lrrn1 |
A |
G |
6: 107,545,269 (GRCm39) |
T356A |
probably benign |
Het |
Mrps17 |
G |
A |
5: 129,793,829 (GRCm39) |
V8I |
probably benign |
Het |
Nop56 |
T |
A |
2: 130,117,915 (GRCm39) |
H130Q |
possibly damaging |
Het |
Plg |
T |
A |
17: 12,630,380 (GRCm39) |
L639Q |
probably damaging |
Het |
Ppp1ca |
A |
G |
19: 4,244,519 (GRCm39) |
T193A |
probably benign |
Het |
Prpf39 |
A |
G |
12: 65,090,037 (GRCm39) |
D117G |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,289,145 (GRCm39) |
T51K |
possibly damaging |
Het |
Sytl2 |
A |
G |
7: 90,031,844 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,915,085 (GRCm39) |
I2150F |
probably damaging |
Het |
Wdr11 |
T |
G |
7: 129,194,817 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ppcdc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R3684:Ppcdc
|
UTSW |
9 |
57,328,408 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
Posted On |
2012-12-06 |