Incidental Mutation 'R3734:Panx1'
ID |
270008 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Panx1
|
Ensembl Gene |
ENSMUSG00000031934 |
Gene Name |
pannexin 1 |
Synonyms |
|
MMRRC Submission |
040721-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3734 (G1)
|
Quality Score |
217 |
Status
|
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: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
95% (41/43) |
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: 40 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 |
Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
Blvra |
A |
T |
2: 126,932,175 (GRCm39) |
|
probably benign |
Het |
Ccdc87 |
G |
T |
19: 4,891,951 (GRCm39) |
W814C |
probably damaging |
Het |
Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,735,004 (GRCm39) |
V994A |
probably benign |
Het |
Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
Eps8l2 |
A |
C |
7: 140,937,734 (GRCm39) |
Y418S |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
Fcgr3 |
T |
C |
1: 170,885,443 (GRCm39) |
M60V |
probably benign |
Het |
Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
Golga1 |
G |
T |
2: 38,940,182 (GRCm39) |
Q141K |
possibly damaging |
Het |
Ift122 |
A |
G |
6: 115,902,462 (GRCm39) |
|
probably benign |
Het |
Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
Itga1 |
T |
C |
13: 115,114,175 (GRCm39) |
H910R |
probably benign |
Het |
Jak3 |
C |
A |
8: 72,129,225 (GRCm39) |
|
probably benign |
Het |
Jrkl |
A |
G |
9: 13,245,535 (GRCm39) |
V42A |
possibly damaging |
Het |
Kif2c |
T |
C |
4: 117,019,843 (GRCm39) |
S515G |
probably benign |
Het |
Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
Lsamp |
T |
C |
16: 41,965,133 (GRCm39) |
I330T |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,975,707 (GRCm39) |
S732P |
possibly damaging |
Het |
Muc5b |
C |
T |
7: 141,412,774 (GRCm39) |
Q1907* |
probably null |
Het |
Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
Nol4 |
A |
T |
18: 22,903,921 (GRCm39) |
|
probably benign |
Het |
Or2l13b |
T |
A |
16: 19,349,398 (GRCm39) |
I91F |
probably damaging |
Het |
Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
Pbld2 |
T |
C |
10: 62,907,244 (GRCm39) |
L161P |
probably damaging |
Het |
Pcdha6 |
T |
A |
18: 37,102,454 (GRCm39) |
V549E |
probably damaging |
Het |
Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
Scmh1 |
T |
A |
4: 120,335,277 (GRCm39) |
I154N |
probably damaging |
Het |
Skor1 |
A |
T |
9: 63,047,350 (GRCm39) |
L879Q |
probably damaging |
Het |
Slc1a7 |
G |
C |
4: 107,834,841 (GRCm39) |
R69P |
probably damaging |
Het |
Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
Tenm1 |
C |
T |
X: 41,772,944 (GRCm39) |
V1023M |
probably benign |
Het |
Tpte |
G |
A |
8: 22,849,498 (GRCm39) |
C575Y |
probably damaging |
Het |
Ulk4 |
T |
C |
9: 121,091,055 (GRCm39) |
K216E |
probably benign |
Het |
Unc5d |
T |
C |
8: 29,251,826 (GRCm39) |
I216V |
probably benign |
Het |
Vmn2r16 |
T |
C |
5: 109,478,280 (GRCm39) |
S12P |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCTATGACGCTGTTGGCC -3'
(R):5'- TGTGACTTCTTACTTAAAAGAGGGG -3'
Sequencing Primer
(F):5'- ACGCTGTTGGCCATTATGTC -3'
(R):5'- TAAAAGAGGGGGTTACTGACTTCTC -3'
|
Posted On |
2015-03-18 |