Incidental Mutation 'IGL02101:Pdxdc1'
ID |
279740 |
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 # |
IGL02101
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
13651012-13720995 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13687720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 225
(I225T)
|
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 damaging
Transcript: ENSMUST00000023361
AA Change: I225T
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000023361 Gene: ENSMUSG00000022680 AA Change: I225T
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 |
probably damaging
Transcript: ENSMUST00000115802
AA Change: I225T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111468 Gene: ENSMUSG00000022680 AA Change: I225T
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
153 |
316 |
1.8e-15 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115803
AA Change: I202T
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000111469 Gene: ENSMUSG00000022680 AA Change: I202T
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
190 |
293 |
1.4e-13 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115804
AA Change: I225T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111471 Gene: ENSMUSG00000022680 AA Change: I225T
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: ENSMUST00000154150
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd163 |
T |
A |
6: 124,284,246 (GRCm39) |
C139* |
probably null |
Het |
Ces2g |
A |
G |
8: 105,691,769 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
C |
2: 91,402,885 (GRCm39) |
|
probably benign |
Het |
Cmtm7 |
T |
C |
9: 114,592,336 (GRCm39) |
H87R |
probably damaging |
Het |
Dennd3 |
A |
G |
15: 73,399,794 (GRCm39) |
D220G |
possibly damaging |
Het |
Dpp10 |
T |
C |
1: 123,339,555 (GRCm39) |
Y324C |
probably damaging |
Het |
Dsc3 |
C |
T |
18: 20,134,963 (GRCm39) |
R7Q |
probably benign |
Het |
Ezh1 |
T |
C |
11: 101,086,392 (GRCm39) |
K598E |
possibly damaging |
Het |
Ighv7-3 |
A |
G |
12: 114,117,045 (GRCm39) |
L39P |
probably damaging |
Het |
Il1rap |
T |
A |
16: 26,442,932 (GRCm39) |
S9R |
possibly damaging |
Het |
Mrgpra3 |
A |
G |
7: 47,239,300 (GRCm39) |
C209R |
probably damaging |
Het |
Oc90 |
G |
T |
15: 65,769,638 (GRCm39) |
P73Q |
probably damaging |
Het |
Or2m12 |
T |
C |
16: 19,105,363 (GRCm39) |
I43M |
probably benign |
Het |
Or3a1b |
G |
A |
11: 74,012,571 (GRCm39) |
W152* |
probably null |
Het |
Pccb |
A |
G |
9: 100,869,894 (GRCm39) |
F346L |
possibly damaging |
Het |
Pold3 |
A |
T |
7: 99,749,703 (GRCm39) |
M154K |
probably damaging |
Het |
Polr1a |
T |
G |
6: 71,927,786 (GRCm39) |
C846G |
probably benign |
Het |
Ppip5k1 |
C |
A |
2: 121,162,089 (GRCm39) |
R978L |
possibly damaging |
Het |
Ptpn4 |
A |
G |
1: 119,615,408 (GRCm39) |
V582A |
probably damaging |
Het |
Sez6l |
G |
T |
5: 112,620,612 (GRCm39) |
Q323K |
probably damaging |
Het |
Slc27a5 |
A |
T |
7: 12,727,270 (GRCm39) |
I384N |
possibly damaging |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Slc7a2 |
T |
C |
8: 41,355,631 (GRCm39) |
F227L |
probably benign |
Het |
Smad4 |
C |
A |
18: 73,791,723 (GRCm39) |
A273S |
probably benign |
Het |
Spata17 |
T |
C |
1: 186,849,657 (GRCm39) |
I84V |
probably benign |
Het |
Sphkap |
T |
C |
1: 83,268,708 (GRCm39) |
T95A |
probably damaging |
Het |
Tie1 |
T |
C |
4: 118,329,995 (GRCm39) |
D1076G |
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 |
IGL02484:Pdxdc1
|
APN |
16 |
13,693,945 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |