Incidental Mutation 'R5272:Panx1'
ID |
400420 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Panx1
|
Ensembl Gene |
ENSMUSG00000031934 |
Gene Name |
pannexin 1 |
Synonyms |
|
MMRRC Submission |
042836-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5272 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
14917081-14956774 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 14956152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
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 |
probably benign
Transcript: ENSMUST00000169288
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
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 |
Actl6a |
A |
G |
3: 32,772,759 (GRCm39) |
E245G |
probably damaging |
Het |
Arsb |
A |
T |
13: 93,930,670 (GRCm39) |
T213S |
possibly damaging |
Het |
Cep152 |
G |
A |
2: 125,452,950 (GRCm39) |
T374I |
probably benign |
Het |
Crx |
C |
T |
7: 15,602,210 (GRCm39) |
C156Y |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 16,249,958 (GRCm39) |
T1007S |
probably damaging |
Het |
Cyp19a1 |
A |
T |
9: 54,083,898 (GRCm39) |
C164S |
probably benign |
Het |
Ddx55 |
A |
T |
5: 124,696,092 (GRCm39) |
I137F |
possibly damaging |
Het |
Dgkg |
C |
A |
16: 22,407,044 (GRCm39) |
|
probably null |
Het |
Dicer1 |
A |
G |
12: 104,670,499 (GRCm39) |
I1022T |
probably damaging |
Het |
Dis3l2 |
T |
C |
1: 86,901,126 (GRCm39) |
V439A |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,350,811 (GRCm39) |
V2611A |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,104,844 (GRCm39) |
|
probably null |
Het |
Ercc6 |
A |
T |
14: 32,240,985 (GRCm39) |
K170* |
probably null |
Het |
Fibcd1 |
A |
T |
2: 31,706,635 (GRCm39) |
C399S |
probably damaging |
Het |
Fibcd1 |
G |
T |
2: 31,706,636 (GRCm39) |
N398K |
probably damaging |
Het |
Fnbp4 |
G |
A |
2: 90,583,459 (GRCm39) |
M327I |
probably benign |
Het |
Fryl |
A |
T |
5: 73,222,479 (GRCm39) |
L256* |
probably null |
Het |
Galr1 |
T |
A |
18: 82,423,761 (GRCm39) |
Y172F |
probably benign |
Het |
Gpi1 |
T |
C |
7: 33,920,115 (GRCm39) |
N186S |
probably damaging |
Het |
Kcnh8 |
A |
G |
17: 53,212,043 (GRCm39) |
I614V |
probably damaging |
Het |
Krt23 |
A |
T |
11: 99,369,099 (GRCm39) |
I398N |
probably damaging |
Het |
Mia3 |
G |
A |
1: 183,109,125 (GRCm39) |
R656* |
probably null |
Het |
Mup6 |
G |
C |
4: 60,005,922 (GRCm39) |
G138A |
probably damaging |
Het |
Nectin3 |
A |
G |
16: 46,268,839 (GRCm39) |
V521A |
possibly damaging |
Het |
Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
Nphs1 |
A |
G |
7: 30,181,067 (GRCm39) |
E1096G |
possibly damaging |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Pcdhb4 |
A |
G |
18: 37,440,819 (GRCm39) |
Y43C |
probably benign |
Het |
Plbd1 |
A |
G |
6: 136,617,156 (GRCm39) |
Y62H |
probably damaging |
Het |
Rab40b |
A |
G |
11: 121,248,134 (GRCm39) |
V190A |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,483,558 (GRCm39) |
E4063G |
probably damaging |
Het |
Smlr1 |
T |
C |
10: 25,411,925 (GRCm39) |
I21V |
probably benign |
Het |
Tenm4 |
T |
A |
7: 96,523,410 (GRCm39) |
Y1614N |
probably damaging |
Het |
Tesmin |
C |
A |
19: 3,456,992 (GRCm39) |
A257E |
probably damaging |
Het |
Tgif1 |
A |
G |
17: 71,153,249 (GRCm39) |
L34P |
probably damaging |
Het |
Ticrr |
C |
A |
7: 79,319,353 (GRCm39) |
T446K |
probably benign |
Het |
Tmc7 |
A |
G |
7: 118,160,276 (GRCm39) |
I187T |
probably benign |
Het |
Tpst2 |
T |
A |
5: 112,455,818 (GRCm39) |
V119E |
probably damaging |
Het |
Trf |
A |
T |
9: 103,105,177 (GRCm39) |
M45K |
probably damaging |
Het |
Trim45 |
T |
C |
3: 100,837,235 (GRCm39) |
C524R |
probably damaging |
Het |
Ttc27 |
G |
A |
17: 75,049,972 (GRCm39) |
V293I |
probably damaging |
Het |
Ugt1a6b |
C |
T |
1: 88,034,949 (GRCm39) |
R96C |
possibly damaging |
Het |
Vit |
A |
G |
17: 78,894,264 (GRCm39) |
Q222R |
probably benign |
Het |
Zfp148 |
T |
A |
16: 33,316,594 (GRCm39) |
V380D |
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 |
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 |
|
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 |
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'- GCTGAATGTAACTCCAAGCCAC -3'
(R):5'- ACTTGGCCACGGAGTATGTG -3'
Sequencing Primer
(F):5'- TGTAACTCCAAGCCACAATAATGAGG -3'
(R):5'- CCACGGAGTATGTGTTCTCGGAC -3'
|
Posted On |
2016-07-06 |