Incidental Mutation 'R3960:Panx1'
ID |
312058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Panx1
|
Ensembl Gene |
ENSMUSG00000031934 |
Gene Name |
pannexin 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3960 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
14917081-14956774 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
GTTCTTCT to GTTCT
at 14917467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132764
(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
|
SMART Domains |
Protein: ENSMUSP00000126405 Gene: ENSMUSG00000031934
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
Hao1 |
A |
C |
2: 134,364,903 (GRCm39) |
|
probably null |
Het |
Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
Ildr2 |
T |
A |
1: 166,136,909 (GRCm39) |
W564R |
probably damaging |
Het |
Impg1 |
G |
T |
9: 80,322,917 (GRCm39) |
F29L |
probably benign |
Het |
Itgam |
T |
C |
7: 127,714,347 (GRCm39) |
V834A |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,131,262 (GRCm39) |
N1948D |
probably damaging |
Het |
Katnb1 |
T |
C |
8: 95,813,925 (GRCm39) |
V17A |
possibly damaging |
Het |
Nipbl |
T |
C |
15: 8,380,018 (GRCm39) |
N925D |
probably benign |
Het |
Oasl2 |
T |
C |
5: 115,043,098 (GRCm39) |
V70A |
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,333,749 (GRCm39) |
H21R |
probably benign |
Het |
Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
Smarcd2 |
A |
G |
11: 106,157,401 (GRCm39) |
S182P |
probably damaging |
Het |
Tbrg4 |
A |
G |
11: 6,568,077 (GRCm39) |
S484P |
probably benign |
Het |
Tprkb |
A |
G |
6: 85,905,783 (GRCm39) |
E156G |
probably benign |
Het |
Zfp647 |
A |
G |
15: 76,795,176 (GRCm39) |
|
probably null |
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 |
IGL02861:Panx1
|
APN |
9 |
14,919,101 (GRCm39) |
missense |
probably benign |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCACACTTACTCTTGTGGGAC -3'
(R):5'- GACTTCTCGACCCAACTTTAAGAC -3'
Sequencing Primer
(F):5'- CTATGACGCTGTTGGCCATTATGTC -3'
(R):5'- CTTTAGACTAAGAAGCAGCCATG -3'
|
Posted On |
2015-04-29 |