Incidental Mutation 'IGL01643:Popdc3'
| ID |
93600 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Popdc3
|
| Ensembl Gene |
ENSMUSG00000019848 |
| Gene Name |
popeye domain containing 3 |
| Synonyms |
Pop3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01643
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
45165401-45194546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45190976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 29
(I29N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019994]
[ENSMUST00000161803]
[ENSMUST00000175658]
|
| AlphaFold |
Q9ES81 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019994
AA Change: I29N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019994
Gene: ENSMUSG00000019848
AA Change: I29N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Popeye
|
25 |
249 |
1.8e-94 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161803
AA Change: I29N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125532
Gene: ENSMUSG00000019848
AA Change: I29N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
44 |
N/A |
INTRINSIC |
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
|
Pfam:Popeye
|
107 |
169 |
5.9e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175658
AA Change: I29N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135373
Gene: ENSMUSG00000019848
AA Change: I29N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
44 |
N/A |
INTRINSIC |
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
|
| 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 encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,082,414 (GRCm39) |
R304Q |
probably damaging |
Het |
| Afap1l1 |
T |
A |
18: 61,884,897 (GRCm39) |
E196V |
probably damaging |
Het |
| Bmp5 |
A |
T |
9: 75,746,895 (GRCm39) |
D251V |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,288,839 (GRCm39) |
H334R |
probably benign |
Het |
| Crnkl1 |
A |
G |
2: 145,773,268 (GRCm39) |
M126T |
probably damaging |
Het |
| Ddrgk1 |
T |
C |
2: 130,500,214 (GRCm39) |
|
probably benign |
Het |
| Dpy19l4 |
T |
C |
4: 11,290,184 (GRCm39) |
|
probably benign |
Het |
| Eral1 |
A |
G |
11: 77,965,104 (GRCm39) |
|
probably null |
Het |
| Ereg |
T |
A |
5: 91,234,637 (GRCm39) |
S17T |
probably benign |
Het |
| Fgfr1 |
T |
A |
8: 26,056,751 (GRCm39) |
M280K |
probably benign |
Het |
| Gpr65 |
A |
G |
12: 98,242,013 (GRCm39) |
E222G |
probably damaging |
Het |
| Grid1 |
G |
T |
14: 35,045,392 (GRCm39) |
|
probably null |
Het |
| Hspa12b |
A |
G |
2: 130,984,617 (GRCm39) |
T329A |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,798,400 (GRCm39) |
I863V |
probably damaging |
Het |
| Kash5 |
A |
T |
7: 44,849,710 (GRCm39) |
M71K |
probably damaging |
Het |
| Krt8 |
G |
T |
15: 101,905,508 (GRCm39) |
S447Y |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 26,946,368 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
A |
C |
10: 38,932,846 (GRCm39) |
N574T |
probably benign |
Het |
| Lig3 |
T |
C |
11: 82,689,118 (GRCm39) |
S791P |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,874,252 (GRCm39) |
|
probably benign |
Het |
| Or4c12b |
A |
T |
2: 89,647,017 (GRCm39) |
I116F |
probably damaging |
Het |
| Pdk1 |
A |
G |
2: 71,728,049 (GRCm39) |
D370G |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,678,793 (GRCm39) |
I914F |
probably benign |
Het |
| Rnf207 |
C |
T |
4: 152,402,718 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,707,563 (GRCm39) |
I2825F |
possibly damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,146,849 (GRCm39) |
|
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,336,972 (GRCm39) |
V791A |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,599,877 (GRCm39) |
L127P |
probably damaging |
Het |
| Whrn |
T |
C |
4: 63,334,672 (GRCm39) |
T368A |
possibly damaging |
Het |
|
| Other mutations in Popdc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Popdc3
|
APN |
10 |
45,193,922 (GRCm39) |
splice site |
probably null |
|
|
IGL01304:Popdc3
|
APN |
10 |
45,194,005 (GRCm39) |
missense |
probably benign |
|
|
IGL02755:Popdc3
|
APN |
10 |
45,191,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Popdc3
|
UTSW |
10 |
45,193,829 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0586:Popdc3
|
UTSW |
10 |
45,191,359 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0738:Popdc3
|
UTSW |
10 |
45,191,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Popdc3
|
UTSW |
10 |
45,192,642 (GRCm39) |
unclassified |
probably benign |
|
|
R1649:Popdc3
|
UTSW |
10 |
45,191,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:Popdc3
|
UTSW |
10 |
45,190,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Popdc3
|
UTSW |
10 |
45,191,002 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5669:Popdc3
|
UTSW |
10 |
45,192,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Popdc3
|
UTSW |
10 |
45,194,015 (GRCm39) |
missense |
probably benign |
|
|
R6028:Popdc3
|
UTSW |
10 |
45,194,015 (GRCm39) |
missense |
probably benign |
|
|
R7468:Popdc3
|
UTSW |
10 |
45,191,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7693:Popdc3
|
UTSW |
10 |
45,191,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7864:Popdc3
|
UTSW |
10 |
45,191,278 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0057:Popdc3
|
UTSW |
10 |
45,191,207 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Popdc3
|
UTSW |
10 |
45,190,980 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation