Incidental Mutation 'IGL02861:Panx1'
| ID |
362150 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Panx1
|
| Ensembl Gene |
ENSMUSG00000031934 |
| Gene Name |
pannexin 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02861
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
14917081-14956774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14919101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 253
(K253E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056755]
[ENSMUST00000164273]
[ENSMUST00000169288]
|
| AlphaFold |
Q9JIP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056755
|
| SMART Domains |
Protein: ENSMUSP00000053557
Gene: ENSMUSG00000031934
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Innexin
|
31 |
102 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164273
AA Change: K253E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126405
Gene: ENSMUSG00000031934
AA Change: K253E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Innexin
|
33 |
256 |
2.1e-16 |
PFAM |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166933
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169288
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired macrophage recruitment, YO-PRO-1 dye uptake, ATP release by apoptotic thymocytes, hippocampal neurons, and astrocytes. Mice homozygous for a different knock-out allele exhibit protection from I/R-induced retinal ganglion cell loss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 61,001,146 (GRCm39) |
|
probably benign |
Het |
| 6430548M08Rik |
G |
A |
8: 120,876,863 (GRCm39) |
R157H |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,627,206 (GRCm39) |
K482E |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,622,566 (GRCm39) |
S429T |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,569,157 (GRCm39) |
N125I |
probably damaging |
Het |
| BC106179 |
T |
A |
16: 23,042,746 (GRCm39) |
|
probably benign |
Het |
| Bclaf3 |
T |
C |
X: 158,338,524 (GRCm39) |
I457T |
possibly damaging |
Het |
| Cbr3 |
T |
G |
16: 93,482,007 (GRCm39) |
V121G |
probably damaging |
Het |
| Cd44 |
A |
G |
2: 102,662,826 (GRCm39) |
|
probably null |
Het |
| Cd72 |
G |
A |
4: 43,448,332 (GRCm39) |
A316V |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,413,657 (GRCm39) |
|
probably benign |
Het |
| Cdon |
A |
T |
9: 35,398,253 (GRCm39) |
Q990L |
probably damaging |
Het |
| Clk2 |
T |
C |
3: 89,080,706 (GRCm39) |
W231R |
probably damaging |
Het |
| Cpsf2 |
G |
A |
12: 101,965,825 (GRCm39) |
V597I |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,042,918 (GRCm39) |
V874A |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,776,455 (GRCm39) |
F811L |
probably damaging |
Het |
| Ddx54 |
T |
C |
5: 120,756,195 (GRCm39) |
|
probably benign |
Het |
| Dysf |
T |
A |
6: 84,016,519 (GRCm39) |
L59Q |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,476,597 (GRCm39) |
Y601H |
probably damaging |
Het |
| Faf2 |
T |
C |
13: 54,796,235 (GRCm39) |
Y131H |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,445,067 (GRCm39) |
D101E |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,737,139 (GRCm39) |
T30A |
possibly damaging |
Het |
| Il27 |
A |
T |
7: 126,191,821 (GRCm39) |
L77Q |
probably damaging |
Het |
| Klhdc1 |
T |
A |
12: 69,298,225 (GRCm39) |
V83D |
possibly damaging |
Het |
| Manba |
T |
G |
3: 135,276,024 (GRCm39) |
S822A |
probably benign |
Het |
| Mterf2 |
A |
C |
10: 84,956,195 (GRCm39) |
V143G |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,981,195 (GRCm39) |
D895G |
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,927,801 (GRCm39) |
I157L |
probably benign |
Het |
| Or6n1 |
T |
A |
1: 173,916,602 (GRCm39) |
|
probably benign |
Het |
| Phc1 |
T |
A |
6: 122,300,748 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,688,208 (GRCm39) |
E250G |
probably damaging |
Het |
| Rp1 |
G |
T |
1: 4,416,375 (GRCm39) |
S1579* |
probably null |
Het |
| Rrp1 |
A |
G |
10: 78,245,056 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,186 (GRCm39) |
L4187P |
possibly damaging |
Het |
| Serpinc1 |
A |
T |
1: 160,827,561 (GRCm39) |
I387F |
probably damaging |
Het |
| Slc2a7 |
G |
A |
4: 150,252,836 (GRCm39) |
C492Y |
probably benign |
Het |
| Slf1 |
A |
G |
13: 77,274,478 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,039,164 (GRCm39) |
L1169Q |
probably damaging |
Het |
| Stap1 |
T |
A |
5: 86,219,824 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
A |
G |
5: 138,182,147 (GRCm39) |
L66P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,632,841 (GRCm39) |
E14071G |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,947,125 (GRCm39) |
H586R |
possibly damaging |
Het |
| Zfpm2 |
A |
C |
15: 40,966,662 (GRCm39) |
K917T |
probably damaging |
Het |
|
| Other mutations in Panx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Panx1
|
APN |
9 |
14,919,140 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01364:Panx1
|
APN |
9 |
14,932,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02831:Panx1
|
APN |
9 |
14,918,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
cathedral
|
UTSW |
9 |
14,918,929 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
elephant
|
UTSW |
9 |
14,921,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
notre_dame
|
UTSW |
9 |
14,921,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Panx1
|
UTSW |
9 |
14,919,112 (GRCm39) |
nonsense |
probably null |
|
|
R0602:Panx1
|
UTSW |
9 |
14,921,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Panx1
|
UTSW |
9 |
14,921,341 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1681:Panx1
|
UTSW |
9 |
14,919,079 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1862:Panx1
|
UTSW |
9 |
14,918,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Panx1
|
UTSW |
9 |
14,918,822 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1937:Panx1
|
UTSW |
9 |
14,918,980 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1946:Panx1
|
UTSW |
9 |
14,918,822 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2447:Panx1
|
UTSW |
9 |
14,956,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3732:Panx1
|
UTSW |
9 |
14,917,467 (GRCm39) |
unclassified |
probably benign |
|
|
R3732:Panx1
|
UTSW |
9 |
14,917,467 (GRCm39) |
unclassified |
probably benign |
|
|
R3733:Panx1
|
UTSW |
9 |
14,917,467 (GRCm39) |
unclassified |
probably benign |
|
|
R3734:Panx1
|
UTSW |
9 |
14,917,467 (GRCm39) |
unclassified |
probably benign |
|
|
R3958:Panx1
|
UTSW |
9 |
14,917,467 (GRCm39) |
unclassified |
probably benign |
|
|
R3960:Panx1
|
UTSW |
9 |
14,917,467 (GRCm39) |
unclassified |
probably benign |
|
|
R4744:Panx1
|
UTSW |
9 |
14,921,594 (GRCm39) |
intron |
probably benign |
|
|
R4990:Panx1
|
UTSW |
9 |
14,921,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5272:Panx1
|
UTSW |
9 |
14,956,152 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5556:Panx1
|
UTSW |
9 |
14,918,929 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5935:Panx1
|
UTSW |
9 |
14,921,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6126:Panx1
|
UTSW |
9 |
14,919,086 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6683:Panx1
|
UTSW |
9 |
14,919,307 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6743:Panx1
|
UTSW |
9 |
14,918,929 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6873:Panx1
|
UTSW |
9 |
14,921,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7944:Panx1
|
UTSW |
9 |
14,919,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8061:Panx1
|
UTSW |
9 |
14,956,297 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Z1177:Panx1
|
UTSW |
9 |
14,919,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation