Incidental Mutation 'IGL02484:Pdxdc1'
ID |
295340 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pdxdc1
|
Ensembl Gene |
ENSMUSG00000022680 |
Gene Name |
pyridoxal-dependent decarboxylase domain containing 1 |
Synonyms |
2210010A19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
IGL02484
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
13651012-13720995 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13693945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 159
(E159G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111468
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023361]
[ENSMUST00000115802]
[ENSMUST00000115803]
[ENSMUST00000115804]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023361
AA Change: E159G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000023361 Gene: ENSMUSG00000022680 AA Change: E159G
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
166 |
310 |
2.6e-12 |
PFAM |
coiled coil region
|
610 |
631 |
N/A |
INTRINSIC |
low complexity region
|
683 |
695 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115802
AA Change: E159G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000111468 Gene: ENSMUSG00000022680 AA Change: E159G
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
153 |
316 |
1.8e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115803
AA Change: E159G
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000111469 Gene: ENSMUSG00000022680 AA Change: E159G
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
190 |
293 |
1.4e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115804
AA Change: E159G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000111471 Gene: ENSMUSG00000022680 AA Change: E159G
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
154 |
308 |
5.5e-15 |
PFAM |
coiled coil region
|
610 |
631 |
N/A |
INTRINSIC |
low complexity region
|
683 |
695 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139859
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151774
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154150
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
C |
7: 29,262,777 (GRCm39) |
|
noncoding transcript |
Het |
Araf |
A |
G |
X: 20,720,148 (GRCm39) |
|
probably benign |
Het |
Arrb2 |
T |
A |
11: 70,330,300 (GRCm39) |
V308E |
probably damaging |
Het |
Asap3 |
A |
G |
4: 135,956,768 (GRCm39) |
|
probably benign |
Het |
Astn2 |
G |
A |
4: 65,910,516 (GRCm39) |
|
probably benign |
Het |
Cactin |
T |
A |
10: 81,158,808 (GRCm39) |
I258N |
probably benign |
Het |
Calhm6 |
T |
C |
10: 34,002,400 (GRCm39) |
T228A |
probably benign |
Het |
Catsperg1 |
T |
C |
7: 28,910,345 (GRCm39) |
|
probably benign |
Het |
Ccna1 |
C |
T |
3: 54,955,915 (GRCm39) |
D146N |
probably benign |
Het |
Chrna3 |
T |
C |
9: 54,922,821 (GRCm39) |
Y329C |
probably damaging |
Het |
Ctps2 |
G |
A |
X: 161,693,005 (GRCm39) |
G56D |
probably damaging |
Het |
Cyp4b1 |
T |
C |
4: 115,504,754 (GRCm39) |
D44G |
probably benign |
Het |
D3Ertd751e |
A |
G |
3: 41,708,155 (GRCm39) |
|
probably null |
Het |
Daxx |
T |
C |
17: 34,131,216 (GRCm39) |
V381A |
probably damaging |
Het |
Dhx37 |
T |
A |
5: 125,496,401 (GRCm39) |
I714F |
possibly damaging |
Het |
Dnah7b |
T |
C |
1: 46,234,478 (GRCm39) |
V1470A |
probably damaging |
Het |
Efl1 |
T |
C |
7: 82,332,247 (GRCm39) |
I297T |
probably damaging |
Het |
Fnd3c2 |
A |
T |
X: 105,289,092 (GRCm39) |
H442Q |
probably damaging |
Het |
Glp2r |
A |
C |
11: 67,630,992 (GRCm39) |
V126G |
possibly damaging |
Het |
Gm5699 |
G |
T |
1: 31,037,843 (GRCm39) |
|
noncoding transcript |
Het |
Gpt2 |
A |
G |
8: 86,242,862 (GRCm39) |
D298G |
probably damaging |
Het |
Gse1 |
G |
T |
8: 121,302,001 (GRCm39) |
|
probably benign |
Het |
Hand1 |
T |
C |
11: 57,722,420 (GRCm39) |
T65A |
probably benign |
Het |
Ints8 |
G |
A |
4: 11,208,834 (GRCm39) |
Q955* |
probably null |
Het |
Lrguk |
C |
T |
6: 34,069,726 (GRCm39) |
P534S |
probably damaging |
Het |
Lrp6 |
A |
G |
6: 134,518,886 (GRCm39) |
F60L |
probably benign |
Het |
Mamld1 |
T |
C |
X: 70,162,258 (GRCm39) |
I423T |
possibly damaging |
Het |
Mrpl22 |
G |
A |
11: 58,063,888 (GRCm39) |
S36N |
possibly damaging |
Het |
Mug2 |
A |
G |
6: 122,049,712 (GRCm39) |
E915G |
probably damaging |
Het |
Oosp2 |
T |
C |
19: 11,628,847 (GRCm39) |
T85A |
probably benign |
Het |
Or5b94 |
T |
C |
19: 12,652,223 (GRCm39) |
F218S |
possibly damaging |
Het |
Or5p68 |
C |
T |
7: 107,945,813 (GRCm39) |
R125Q |
probably damaging |
Het |
Pde4c |
T |
A |
8: 71,200,701 (GRCm39) |
|
probably benign |
Het |
Poln |
T |
C |
5: 34,286,721 (GRCm39) |
E149G |
probably damaging |
Het |
Pou5f2 |
T |
G |
13: 78,174,024 (GRCm39) |
L322R |
probably damaging |
Het |
Ppm1k |
A |
T |
6: 57,501,997 (GRCm39) |
S55R |
possibly damaging |
Het |
Ptges2 |
T |
A |
2: 32,287,719 (GRCm39) |
I149N |
probably damaging |
Het |
Pus7l |
A |
G |
15: 94,427,369 (GRCm39) |
V471A |
possibly damaging |
Het |
Raet1e |
A |
T |
10: 22,056,666 (GRCm39) |
M81L |
probably benign |
Het |
Sipa1l3 |
A |
G |
7: 29,098,956 (GRCm39) |
S438P |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,799,750 (GRCm39) |
K126* |
probably null |
Het |
Stfa2 |
T |
C |
16: 36,225,569 (GRCm39) |
T37A |
probably damaging |
Het |
Ttll12 |
A |
G |
15: 83,465,897 (GRCm39) |
I433T |
possibly damaging |
Het |
Vmn2r32 |
C |
T |
7: 7,467,116 (GRCm39) |
G804D |
probably damaging |
Het |
Zc3h14 |
A |
G |
12: 98,740,560 (GRCm39) |
T84A |
probably benign |
Het |
|
Other mutations in Pdxdc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01760:Pdxdc1
|
APN |
16 |
13,677,016 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02101:Pdxdc1
|
APN |
16 |
13,687,720 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02523:Pdxdc1
|
APN |
16 |
13,699,799 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02560:Pdxdc1
|
APN |
16 |
13,657,596 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02884:Pdxdc1
|
APN |
16 |
13,661,659 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03008:Pdxdc1
|
APN |
16 |
13,694,023 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03162:Pdxdc1
|
APN |
16 |
13,675,281 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02991:Pdxdc1
|
UTSW |
16 |
13,675,260 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4472001:Pdxdc1
|
UTSW |
16 |
13,663,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Pdxdc1
|
UTSW |
16 |
13,705,547 (GRCm39) |
splice site |
probably benign |
|
R0240:Pdxdc1
|
UTSW |
16 |
13,697,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R0240:Pdxdc1
|
UTSW |
16 |
13,697,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R0432:Pdxdc1
|
UTSW |
16 |
13,672,264 (GRCm39) |
missense |
probably damaging |
0.97 |
R0846:Pdxdc1
|
UTSW |
16 |
13,672,257 (GRCm39) |
critical splice donor site |
probably null |
|
R0944:Pdxdc1
|
UTSW |
16 |
13,656,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R0945:Pdxdc1
|
UTSW |
16 |
13,675,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R1118:Pdxdc1
|
UTSW |
16 |
13,697,278 (GRCm39) |
splice site |
probably benign |
|
R1726:Pdxdc1
|
UTSW |
16 |
13,656,164 (GRCm39) |
critical splice donor site |
probably null |
|
R2425:Pdxdc1
|
UTSW |
16 |
13,697,372 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3890:Pdxdc1
|
UTSW |
16 |
13,654,312 (GRCm39) |
missense |
probably benign |
|
R4452:Pdxdc1
|
UTSW |
16 |
13,654,990 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4516:Pdxdc1
|
UTSW |
16 |
13,656,210 (GRCm39) |
nonsense |
probably null |
|
R4938:Pdxdc1
|
UTSW |
16 |
13,693,933 (GRCm39) |
missense |
probably benign |
0.03 |
R5352:Pdxdc1
|
UTSW |
16 |
13,658,175 (GRCm39) |
missense |
probably benign |
0.01 |
R5554:Pdxdc1
|
UTSW |
16 |
13,690,363 (GRCm39) |
missense |
probably benign |
0.01 |
R7300:Pdxdc1
|
UTSW |
16 |
13,697,374 (GRCm39) |
missense |
probably damaging |
0.99 |
R7356:Pdxdc1
|
UTSW |
16 |
13,677,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R7963:Pdxdc1
|
UTSW |
16 |
13,694,030 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8930:Pdxdc1
|
UTSW |
16 |
13,672,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R8932:Pdxdc1
|
UTSW |
16 |
13,672,269 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pdxdc1
|
UTSW |
16 |
13,720,907 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2015-04-16 |