Incidental Mutation 'R6873:Panx1'
ID |
536262 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Panx1
|
Ensembl Gene |
ENSMUSG00000031934 |
Gene Name |
pannexin 1 |
Synonyms |
|
MMRRC Submission |
044970-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6873 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14917081-14956774 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 14921513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 121
(Y121N)
|
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 damaging
Transcript: ENSMUST00000164273
AA Change: Y121N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126405 Gene: ENSMUSG00000031934 AA Change: Y121N
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
|
Meta Mutation Damage Score |
0.6888 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
98% (48/49) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adss1 |
A |
G |
12: 112,599,138 (GRCm39) |
D123G |
probably benign |
Het |
Agbl4 |
A |
G |
4: 111,423,856 (GRCm39) |
D294G |
possibly damaging |
Het |
Apob |
G |
T |
12: 8,065,995 (GRCm39) |
M4288I |
probably benign |
Het |
Arnt |
T |
G |
3: 95,381,886 (GRCm39) |
F160V |
probably damaging |
Het |
Atp5f1a |
C |
T |
18: 77,863,540 (GRCm39) |
R42* |
probably null |
Het |
Bhlha15 |
A |
G |
5: 144,128,203 (GRCm39) |
D105G |
probably benign |
Het |
C6 |
A |
G |
15: 4,820,461 (GRCm39) |
T491A |
probably benign |
Het |
Calhm5 |
G |
C |
10: 33,968,448 (GRCm39) |
R202G |
probably damaging |
Het |
Caskin1 |
A |
G |
17: 24,723,153 (GRCm39) |
E647G |
probably benign |
Het |
Col11a2 |
A |
G |
17: 34,283,993 (GRCm39) |
D1579G |
unknown |
Het |
Dctn2 |
T |
G |
10: 127,112,105 (GRCm39) |
|
probably null |
Het |
Eqtn |
A |
G |
4: 94,815,258 (GRCm39) |
V80A |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,802,803 (GRCm39) |
|
probably null |
Het |
Fbxo10 |
T |
C |
4: 45,041,787 (GRCm39) |
D814G |
possibly damaging |
Het |
Galnt10 |
A |
G |
11: 57,672,045 (GRCm39) |
D445G |
probably damaging |
Het |
Gm6309 |
T |
C |
5: 146,104,998 (GRCm39) |
D305G |
probably damaging |
Het |
Grap2 |
G |
A |
15: 80,527,874 (GRCm39) |
V107I |
probably damaging |
Het |
Igsf10 |
C |
T |
3: 59,235,865 (GRCm39) |
A1439T |
probably benign |
Het |
Krt5 |
G |
A |
15: 101,621,312 (GRCm39) |
|
probably benign |
Het |
Lancl2 |
A |
G |
6: 57,699,642 (GRCm39) |
I152M |
possibly damaging |
Het |
Mast3 |
A |
T |
8: 71,239,236 (GRCm39) |
C447* |
probably null |
Het |
Mef2b |
A |
G |
8: 70,618,957 (GRCm39) |
I180V |
probably benign |
Het |
Mon1b |
T |
C |
8: 114,368,697 (GRCm39) |
Y533H |
probably damaging |
Het |
Mst1r |
A |
T |
9: 107,788,843 (GRCm39) |
H454L |
possibly damaging |
Het |
Nhlrc4 |
G |
A |
17: 26,162,496 (GRCm39) |
Q84* |
probably null |
Het |
Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
Nlrp6 |
T |
C |
7: 140,503,433 (GRCm39) |
I513T |
probably benign |
Het |
Or1j12 |
A |
T |
2: 36,343,508 (GRCm39) |
I304F |
probably benign |
Het |
Or2n1 |
A |
T |
17: 38,486,259 (GRCm39) |
M95L |
probably benign |
Het |
Or4c108 |
T |
C |
2: 88,803,768 (GRCm39) |
T156A |
probably benign |
Het |
Pfkfb4 |
A |
C |
9: 108,839,403 (GRCm39) |
|
probably null |
Het |
Setbp1 |
A |
G |
18: 78,902,774 (GRCm39) |
S298P |
probably benign |
Het |
Sh3bgr |
A |
C |
16: 96,007,691 (GRCm39) |
K19Q |
probably damaging |
Het |
Slc35c2 |
T |
C |
2: 165,124,729 (GRCm39) |
D82G |
possibly damaging |
Het |
Spata13 |
T |
A |
14: 60,929,406 (GRCm39) |
D321E |
probably benign |
Het |
Stab2 |
A |
G |
10: 86,697,230 (GRCm39) |
|
probably null |
Het |
Sulf2 |
T |
A |
2: 165,931,195 (GRCm39) |
I271F |
probably damaging |
Het |
Sult2a5 |
A |
T |
7: 13,359,311 (GRCm39) |
I96L |
probably benign |
Het |
Sv2b |
A |
G |
7: 74,855,954 (GRCm39) |
F112S |
probably damaging |
Het |
Sycp1 |
G |
A |
3: 102,748,296 (GRCm39) |
T832I |
probably benign |
Het |
Tm9sf2 |
A |
T |
14: 122,382,525 (GRCm39) |
E179V |
probably damaging |
Het |
Tmem209 |
A |
G |
6: 30,508,455 (GRCm39) |
I66T |
probably damaging |
Het |
Tspan10 |
T |
C |
11: 120,335,549 (GRCm39) |
W220R |
probably damaging |
Het |
Ttc39b |
G |
C |
4: 83,164,513 (GRCm39) |
N266K |
probably damaging |
Het |
Uri1 |
A |
T |
7: 37,664,764 (GRCm39) |
D309E |
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,527,273 (GRCm39) |
R1057W |
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 |
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 |
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'- ACATTCTCAGTCACTCCTGGG -3'
(R):5'- GTCAGCTCTGGGTCAGATATC -3'
Sequencing Primer
(F):5'- GGGTCCAGGTCCGTCTCTTAG -3'
(R):5'- GCTCTGGGTCAGATATCTATACAAGC -3'
|
Posted On |
2018-10-18 |