Incidental Mutation 'R6406:Pdcd6ip'
| ID |
516311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdcd6ip
|
| Ensembl Gene |
ENSMUSG00000032504 |
| Gene Name |
programmed cell death 6 interacting protein |
| Synonyms |
AIP1, Alix |
| MMRRC Submission |
044551-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6406 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
113480812-113537327 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113503412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 452
(N452S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035086]
[ENSMUST00000111861]
|
| AlphaFold |
Q9WU78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035086
AA Change: N447S
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000035086
Gene: ENSMUSG00000032504
AA Change: N447S
| Domain | Start | End | E-Value | Type |
|---|
|
BRO1
|
3 |
382 |
1.99e-160 |
SMART |
|
Pfam:ALIX_LYPXL_bnd
|
408 |
702 |
3.6e-91 |
PFAM |
|
low complexity region
|
731 |
812 |
N/A |
INTRINSIC |
|
Blast:BRO1
|
813 |
839 |
2e-11 |
BLAST |
|
low complexity region
|
840 |
869 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111861
AA Change: N452S
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107492
Gene: ENSMUSG00000032504
AA Change: N452S
| Domain | Start | End | E-Value | Type |
|---|
|
BRO1
|
3 |
387 |
3.46e-160 |
SMART |
|
Pfam:ALIX_LYPXL_bnd
|
417 |
706 |
8.8e-96 |
PFAM |
|
low complexity region
|
736 |
817 |
N/A |
INTRINSIC |
|
Blast:BRO1
|
818 |
844 |
2e-11 |
BLAST |
|
low complexity region
|
845 |
874 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135545
|
| Meta Mutation Damage Score |
0.1463 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
96% (48/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,817,865 (GRCm39) |
P29L |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,261,484 (GRCm39) |
N567S |
probably benign |
Het |
| Ahi1 |
T |
G |
10: 20,852,948 (GRCm39) |
N505K |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,825,874 (GRCm39) |
D356V |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Bpifb6 |
C |
A |
2: 153,746,457 (GRCm39) |
T117K |
possibly damaging |
Het |
| C2cd6 |
T |
C |
1: 59,097,835 (GRCm39) |
E418G |
possibly damaging |
Het |
| Cbx1 |
A |
T |
11: 96,692,364 (GRCm39) |
K84* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,852,079 (GRCm39) |
L90P |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,387,827 (GRCm39) |
D91G |
probably damaging |
Het |
| Dock1 |
C |
A |
7: 134,747,215 (GRCm39) |
Q1509K |
probably benign |
Het |
| Fzd1 |
T |
G |
5: 4,806,089 (GRCm39) |
T498P |
probably damaging |
Het |
| Galnt12 |
A |
G |
4: 47,122,534 (GRCm39) |
N271S |
probably benign |
Het |
| Gm12888 |
A |
G |
4: 121,176,654 (GRCm39) |
I49T |
possibly damaging |
Het |
| Gria4 |
A |
T |
9: 4,427,077 (GRCm39) |
W788R |
probably damaging |
Het |
| Ilf3 |
C |
T |
9: 21,307,540 (GRCm39) |
A379V |
probably damaging |
Het |
| Islr2 |
A |
G |
9: 58,107,263 (GRCm39) |
V43A |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,929,563 (GRCm39) |
N782I |
probably damaging |
Het |
| Klhl8 |
T |
A |
5: 104,010,981 (GRCm39) |
I539F |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,839,257 (GRCm39) |
C750* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,388,361 (GRCm39) |
T2355S |
unknown |
Het |
| Lrrc8a |
A |
G |
2: 30,147,103 (GRCm39) |
H639R |
possibly damaging |
Het |
| Map1a |
A |
T |
2: 121,131,224 (GRCm39) |
D442V |
probably damaging |
Het |
| Mier3 |
T |
C |
13: 111,846,343 (GRCm39) |
|
probably null |
Het |
| Msantd1 |
C |
A |
5: 35,080,665 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
C |
A |
6: 125,150,841 (GRCm39) |
A785S |
probably benign |
Het |
| Ncbp2 |
CTCGTCTGG |
C |
16: 31,775,159 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Ndst4 |
T |
C |
3: 125,232,150 (GRCm39) |
S240P |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,385,946 (GRCm39) |
D17G |
probably damaging |
Het |
| Nkx6-1 |
C |
T |
5: 101,811,677 (GRCm39) |
A142T |
unknown |
Het |
| Nt5dc1 |
T |
C |
10: 34,200,404 (GRCm39) |
H205R |
probably benign |
Het |
| Or5b94 |
T |
C |
19: 12,652,184 (GRCm39) |
I205T |
probably benign |
Het |
| Or9g3 |
T |
A |
2: 85,590,651 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Pafah1b1 |
A |
G |
11: 74,573,098 (GRCm39) |
M322T |
probably benign |
Het |
| Parp2 |
A |
G |
14: 51,056,934 (GRCm39) |
N353D |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,762,586 (GRCm39) |
V1397A |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,535,665 (GRCm39) |
L1675Q |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,395,703 (GRCm39) |
I1157V |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Sele |
G |
T |
1: 163,878,312 (GRCm39) |
C217F |
probably damaging |
Het |
| Spats1 |
T |
A |
17: 45,768,191 (GRCm39) |
H125L |
probably damaging |
Het |
| Stard3 |
T |
C |
11: 98,269,595 (GRCm39) |
V330A |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,069,846 (GRCm39) |
|
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,977,963 (GRCm39) |
F301L |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,032,924 (GRCm39) |
E221K |
probably damaging |
Het |
| Trim61 |
T |
C |
8: 65,466,377 (GRCm39) |
T295A |
possibly damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,101,093 (GRCm39) |
Q35R |
probably damaging |
Het |
| Tsnaxip1 |
C |
T |
8: 106,570,615 (GRCm39) |
T578I |
probably benign |
Het |
|
| Other mutations in Pdcd6ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Pdcd6ip
|
APN |
9 |
113,526,586 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00814:Pdcd6ip
|
APN |
9 |
113,516,721 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01092:Pdcd6ip
|
APN |
9 |
113,509,249 (GRCm39) |
splice site |
probably benign |
|
|
IGL01621:Pdcd6ip
|
APN |
9 |
113,514,490 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01781:Pdcd6ip
|
APN |
9 |
113,520,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02158:Pdcd6ip
|
APN |
9 |
113,509,121 (GRCm39) |
nonsense |
probably null |
|
|
IGL03136:Pdcd6ip
|
APN |
9 |
113,520,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03137:Pdcd6ip
|
APN |
9 |
113,486,213 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03246:Pdcd6ip
|
APN |
9 |
113,507,485 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0230:Pdcd6ip
|
UTSW |
9 |
113,514,361 (GRCm39) |
splice site |
probably benign |
|
|
R0284:Pdcd6ip
|
UTSW |
9 |
113,491,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0862:Pdcd6ip
|
UTSW |
9 |
113,503,578 (GRCm39) |
splice site |
probably benign |
|
|
R0864:Pdcd6ip
|
UTSW |
9 |
113,503,578 (GRCm39) |
splice site |
probably benign |
|
|
R1025:Pdcd6ip
|
UTSW |
9 |
113,491,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Pdcd6ip
|
UTSW |
9 |
113,529,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1699:Pdcd6ip
|
UTSW |
9 |
113,507,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Pdcd6ip
|
UTSW |
9 |
113,537,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2317:Pdcd6ip
|
UTSW |
9 |
113,501,842 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2698:Pdcd6ip
|
UTSW |
9 |
113,503,575 (GRCm39) |
splice site |
probably null |
|
|
R4182:Pdcd6ip
|
UTSW |
9 |
113,529,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5154:Pdcd6ip
|
UTSW |
9 |
113,520,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5229:Pdcd6ip
|
UTSW |
9 |
113,507,401 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5391:Pdcd6ip
|
UTSW |
9 |
113,520,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5972:Pdcd6ip
|
UTSW |
9 |
113,491,366 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6149:Pdcd6ip
|
UTSW |
9 |
113,488,939 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6514:Pdcd6ip
|
UTSW |
9 |
113,518,762 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6869:Pdcd6ip
|
UTSW |
9 |
113,484,174 (GRCm39) |
missense |
unknown |
|
|
R6888:Pdcd6ip
|
UTSW |
9 |
113,500,905 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7078:Pdcd6ip
|
UTSW |
9 |
113,488,953 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7683:Pdcd6ip
|
UTSW |
9 |
113,516,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Pdcd6ip
|
UTSW |
9 |
113,501,865 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8376:Pdcd6ip
|
UTSW |
9 |
113,518,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8495:Pdcd6ip
|
UTSW |
9 |
113,518,775 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8926:Pdcd6ip
|
UTSW |
9 |
113,514,493 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9080:Pdcd6ip
|
UTSW |
9 |
113,520,624 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9260:Pdcd6ip
|
UTSW |
9 |
113,526,572 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9315:Pdcd6ip
|
UTSW |
9 |
113,488,921 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9542:Pdcd6ip
|
UTSW |
9 |
113,520,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9546:Pdcd6ip
|
UTSW |
9 |
113,484,174 (GRCm39) |
missense |
unknown |
|
|
R9547:Pdcd6ip
|
UTSW |
9 |
113,484,174 (GRCm39) |
missense |
unknown |
|
|
Z1177:Pdcd6ip
|
UTSW |
9 |
113,514,437 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTTATTTTCCCCTAAGAATGGCC -3'
(R):5'- AAGACAATGTAGACTTGCACATGAC -3'
Sequencing Primer
(F):5'- GAATGGCCCACTGTCACTC -3'
(R):5'- TGTAGACTTGCACATGACACAAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation