Incidental Mutation 'IGL02560:Pdxdc1'
ID |
298188 |
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: 0.192)
|
Stock # |
IGL02560
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
13651012-13720995 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13657596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 532
(D532G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111471
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023361]
[ENSMUST00000023362]
[ENSMUST00000115804]
[ENSMUST00000115805]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023361
AA Change: D532G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000023361 Gene: ENSMUSG00000022680 AA Change: D532G
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 benign
Transcript: ENSMUST00000023362
|
SMART Domains |
Protein: ENSMUSP00000023362 Gene: ENSMUSG00000022681
Domain | Start | End | E-Value | Type |
Pfam:N_Asn_amidohyd
|
36 |
304 |
1.3e-124 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115804
AA Change: D532G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000111471 Gene: ENSMUSG00000022680 AA Change: D532G
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 |
probably benign
Transcript: ENSMUST00000115805
|
SMART Domains |
Protein: ENSMUSP00000111472 Gene: ENSMUSG00000022681
Domain | Start | End | E-Value | Type |
Pfam:N_Asn_amidohyd
|
32 |
215 |
1.4e-82 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124860
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136618
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152450
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144913
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154150
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150435
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148848
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
C |
T |
10: 88,814,603 (GRCm39) |
W660* |
probably null |
Het |
Atp9b |
T |
C |
18: 80,805,413 (GRCm39) |
D715G |
probably benign |
Het |
Catsper1 |
T |
C |
19: 5,386,216 (GRCm39) |
S150P |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cldn19 |
G |
A |
4: 119,112,921 (GRCm39) |
W51* |
probably null |
Het |
Ddx31 |
T |
C |
2: 28,765,838 (GRCm39) |
I512T |
probably damaging |
Het |
Dsc2 |
G |
T |
18: 20,178,596 (GRCm39) |
D269E |
probably damaging |
Het |
Dsg1b |
T |
C |
18: 20,542,235 (GRCm39) |
V914A |
possibly damaging |
Het |
Etl4 |
A |
G |
2: 20,748,529 (GRCm39) |
E420G |
probably damaging |
Het |
Foxa2 |
A |
G |
2: 147,885,951 (GRCm39) |
L113P |
probably benign |
Het |
Gm6034 |
T |
G |
17: 36,367,356 (GRCm39) |
|
probably benign |
Het |
Gtf3c4 |
A |
T |
2: 28,724,279 (GRCm39) |
Y343* |
probably null |
Het |
Hhip |
A |
T |
8: 80,713,638 (GRCm39) |
Y563N |
probably damaging |
Het |
Ighg2c |
A |
T |
12: 113,251,504 (GRCm39) |
C208S |
unknown |
Het |
Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
Myb |
A |
T |
10: 21,028,347 (GRCm39) |
L172Q |
probably damaging |
Het |
Nipal3 |
A |
T |
4: 135,207,015 (GRCm39) |
Y60N |
probably damaging |
Het |
Npas2 |
A |
T |
1: 39,373,042 (GRCm39) |
|
probably benign |
Het |
Or5h26 |
G |
T |
16: 58,987,891 (GRCm39) |
S205* |
probably null |
Het |
Or8k16 |
T |
A |
2: 85,519,863 (GRCm39) |
V30D |
possibly damaging |
Het |
Or8k39 |
A |
T |
2: 86,563,578 (GRCm39) |
I126N |
probably damaging |
Het |
Pwp2 |
T |
C |
10: 78,014,899 (GRCm39) |
S362G |
probably damaging |
Het |
Senp5 |
A |
G |
16: 31,808,210 (GRCm39) |
V348A |
probably benign |
Het |
Slc25a37 |
T |
C |
14: 69,482,741 (GRCm39) |
T187A |
probably benign |
Het |
Svil |
A |
G |
18: 5,049,379 (GRCm39) |
I219V |
probably benign |
Het |
Tcf4 |
A |
G |
18: 69,776,093 (GRCm39) |
|
probably benign |
Het |
Tex15 |
T |
C |
8: 34,071,779 (GRCm39) |
V2442A |
probably benign |
Het |
Tomm70a |
T |
C |
16: 56,970,212 (GRCm39) |
L530S |
probably benign |
Het |
Ulbp3 |
A |
G |
10: 3,075,866 (GRCm39) |
|
noncoding transcript |
Het |
Wscd2 |
A |
T |
5: 113,699,045 (GRCm39) |
D200V |
probably benign |
Het |
Zfp952 |
C |
T |
17: 33,221,793 (GRCm39) |
Q53* |
probably null |
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 |
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 |
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 |