Incidental Mutation 'IGL01760:Pdxdc1'
| ID |
153239 |
| 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 # |
IGL01760
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
13651012-13720995 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13677016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 273
(N273K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111471
(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: N273K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023361
Gene: ENSMUSG00000022680
AA Change: N273K
| 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: N273K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111468
Gene: ENSMUSG00000022680
AA Change: N273K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyridoxal_deC
|
153 |
316 |
1.8e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115803
AA Change: N250K
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111469
Gene: ENSMUSG00000022680
AA Change: N250K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyridoxal_deC
|
190 |
293 |
1.4e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115804
AA Change: N273K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111471
Gene: ENSMUSG00000022680
AA Change: N273K
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
A |
8: 84,458,586 (GRCm39) |
T147S |
probably benign |
Het |
| Chst3 |
A |
T |
10: 60,022,292 (GRCm39) |
V185D |
probably damaging |
Het |
| Col14a1 |
A |
C |
15: 55,286,855 (GRCm39) |
D892A |
unknown |
Het |
| Dop1a |
A |
G |
9: 86,401,976 (GRCm39) |
T1059A |
probably benign |
Het |
| Eif1ad3 |
A |
T |
12: 87,843,791 (GRCm39) |
|
probably benign |
Het |
| Erlec1 |
A |
C |
11: 30,884,731 (GRCm39) |
S441A |
probably benign |
Het |
| Frmd4b |
G |
T |
6: 97,285,663 (GRCm39) |
T289N |
probably damaging |
Het |
| Gm6133 |
G |
A |
18: 78,393,390 (GRCm39) |
R128Q |
probably benign |
Het |
| Gnai2 |
A |
G |
9: 107,493,717 (GRCm39) |
S155P |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,239,982 (GRCm39) |
S517P |
possibly damaging |
Het |
| Ighv9-1 |
C |
A |
12: 114,057,814 (GRCm39) |
E29* |
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,409,370 (GRCm39) |
K1583R |
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,534,145 (GRCm39) |
T211M |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,817,497 (GRCm39) |
S418P |
probably benign |
Het |
| Napa |
A |
G |
7: 15,832,669 (GRCm39) |
N23S |
possibly damaging |
Het |
| Odf2 |
C |
A |
2: 29,804,472 (GRCm39) |
Q347K |
probably damaging |
Het |
| Ogdhl |
A |
G |
14: 32,061,894 (GRCm39) |
D504G |
probably damaging |
Het |
| Or10aa1 |
T |
C |
1: 173,870,191 (GRCm39) |
L225P |
probably damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,262,015 (GRCm39) |
I11V |
probably benign |
Het |
| Spidr |
G |
T |
16: 15,730,424 (GRCm39) |
R664S |
possibly damaging |
Het |
| Tead3 |
T |
C |
17: 28,552,055 (GRCm39) |
N385S |
probably benign |
Het |
| Trim13 |
T |
A |
14: 61,843,172 (GRCm39) |
N396K |
probably benign |
Het |
| Trp53bp2 |
C |
T |
1: 182,275,993 (GRCm39) |
A160V |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,072 (GRCm39) |
S689P |
possibly damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,366 (GRCm39) |
Q255L |
probably benign |
Het |
| Wsb1 |
T |
C |
11: 79,132,867 (GRCm39) |
Y276C |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,639,547 (GRCm39) |
N1233K |
probably damaging |
Het |
|
| Other mutations in Pdxdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation