Incidental Mutation 'IGL01563:Pdcd4'
| ID |
90885 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdcd4
|
| Ensembl Gene |
ENSMUSG00000024975 |
| Gene Name |
programmed cell death 4 |
| Synonyms |
MA-3, TIS, D19Ucla1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
IGL01563
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
53880662-53918291 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53917552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 463
(R463H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025931]
[ENSMUST00000074371]
[ENSMUST00000135402]
[ENSMUST00000165617]
|
| AlphaFold |
Q61823 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025931
AA Change: R463H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025931
Gene: ENSMUSG00000024975
AA Change: R463H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
122 |
N/A |
INTRINSIC |
|
MA3
|
164 |
275 |
3.68e-41 |
SMART |
|
MA3
|
327 |
440 |
5.01e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074371
AA Change: R463H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073975
Gene: ENSMUSG00000024975
AA Change: R463H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
122 |
N/A |
INTRINSIC |
|
MA3
|
164 |
275 |
3.68e-41 |
SMART |
|
MA3
|
327 |
440 |
5.01e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135402
|
| SMART Domains |
Protein: ENSMUSP00000136324
Gene: ENSMUSG00000084957
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BBIP10
|
1 |
64 |
2.7e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165617
AA Change: R463H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133135
Gene: ENSMUSG00000024975
AA Change: R463H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
122 |
N/A |
INTRINSIC |
|
MA3
|
164 |
275 |
3.68e-41 |
SMART |
|
MA3
|
327 |
440 |
5.01e-43 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a null allele have a higher prevalence of B cell derived lymphomas, multi-organ cysts and decreased susceptibility to experimentally induced autoimmune encephalomyelitis and type 1 diabetes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,604,965 (GRCm39) |
E2205G |
probably damaging |
Het |
| Arid2 |
G |
A |
15: 96,270,278 (GRCm39) |
V1464I |
probably damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,631 (GRCm39) |
Q173R |
probably damaging |
Het |
| Best1 |
A |
G |
19: 9,964,099 (GRCm39) |
F454L |
probably benign |
Het |
| CK137956 |
T |
G |
4: 127,864,428 (GRCm39) |
K67T |
possibly damaging |
Het |
| Col14a1 |
G |
A |
15: 55,351,337 (GRCm39) |
G1555R |
unknown |
Het |
| Csad |
G |
A |
15: 102,095,598 (GRCm39) |
S153F |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,892,930 (GRCm39) |
D315V |
probably damaging |
Het |
| Galnt3 |
G |
A |
2: 65,928,101 (GRCm39) |
A265V |
probably damaging |
Het |
| Gm5901 |
C |
A |
7: 105,026,722 (GRCm39) |
Y163* |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,356,074 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,469,399 (GRCm39) |
D138G |
probably damaging |
Het |
| Has1 |
A |
T |
17: 18,063,924 (GRCm39) |
|
probably benign |
Het |
| Ighv1-42 |
A |
G |
12: 114,900,804 (GRCm39) |
S94P |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,824,787 (GRCm39) |
L569Q |
probably damaging |
Het |
| Nedd1 |
C |
T |
10: 92,534,031 (GRCm39) |
|
probably null |
Het |
| Or2b2 |
A |
G |
13: 21,887,243 (GRCm39) |
E24G |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,997 (GRCm39) |
I214N |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,637,120 (GRCm39) |
V364A |
probably benign |
Het |
| Rps19bp1 |
A |
G |
15: 80,145,532 (GRCm39) |
M84T |
probably benign |
Het |
| Sass6 |
A |
T |
3: 116,398,847 (GRCm39) |
D43V |
probably damaging |
Het |
| Senp6 |
G |
A |
9: 80,029,290 (GRCm39) |
S551N |
probably benign |
Het |
| Sh2d2a |
A |
G |
3: 87,759,432 (GRCm39) |
E273G |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,889,908 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
C |
T |
11: 60,674,671 (GRCm39) |
R816C |
possibly damaging |
Het |
| Trappc8 |
A |
T |
18: 20,970,103 (GRCm39) |
N962K |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,656,604 (GRCm39) |
E677G |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,195,998 (GRCm39) |
P961T |
probably damaging |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,061 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vps41 |
T |
C |
13: 18,966,897 (GRCm39) |
|
probably benign |
Het |
| Vwf |
A |
T |
6: 125,568,128 (GRCm39) |
D341V |
probably damaging |
Het |
| Zfp618 |
C |
T |
4: 62,998,133 (GRCm39) |
P45L |
probably benign |
Het |
|
| Other mutations in Pdcd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02608:Pdcd4
|
APN |
19 |
53,915,638 (GRCm39) |
splice site |
probably null |
|
|
seventh
|
UTSW |
19 |
53,910,564 (GRCm39) |
critical splice donor site |
probably null |
|
|
Uccidere
|
UTSW |
19 |
53,899,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Pdcd4
|
UTSW |
19 |
53,917,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Pdcd4
|
UTSW |
19 |
53,897,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1836:Pdcd4
|
UTSW |
19 |
53,914,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4298:Pdcd4
|
UTSW |
19 |
53,908,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6365:Pdcd4
|
UTSW |
19 |
53,910,564 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6436:Pdcd4
|
UTSW |
19 |
53,915,362 (GRCm39) |
splice site |
probably null |
|
|
R7523:Pdcd4
|
UTSW |
19 |
53,899,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8244:Pdcd4
|
UTSW |
19 |
53,895,965 (GRCm39) |
missense |
probably benign |
|
|
R8739:Pdcd4
|
UTSW |
19 |
53,899,405 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation