Incidental Mutation 'R6126:Panx1'
| ID |
487403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Panx1
|
| Ensembl Gene |
ENSMUSG00000031934 |
| Gene Name |
pannexin 1 |
| Synonyms |
|
| MMRRC Submission |
044273-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6126 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14917081-14956774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14919086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 258
(I258F)
|
| 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: I258F
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126405
Gene: ENSMUSG00000031934
AA Change: I258F
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
93% (51/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,963,881 (GRCm39) |
R111H |
probably damaging |
Het |
| Alk |
G |
A |
17: 72,182,037 (GRCm39) |
L1329F |
possibly damaging |
Het |
| Apoh |
A |
T |
11: 108,288,199 (GRCm39) |
I106F |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,281,775 (GRCm39) |
M126I |
probably benign |
Het |
| Cactin |
G |
A |
10: 81,160,143 (GRCm39) |
R412H |
possibly damaging |
Het |
| Chd7 |
T |
C |
4: 8,826,482 (GRCm39) |
S949P |
probably damaging |
Het |
| Clec11a |
C |
T |
7: 43,954,345 (GRCm39) |
A203T |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,267,264 (GRCm39) |
I5080K |
probably damaging |
Het |
| Ecd |
T |
C |
14: 20,388,493 (GRCm39) |
|
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,014,318 (GRCm39) |
K638* |
probably null |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,141,443 (GRCm39) |
I272T |
probably damaging |
Het |
| Foxd2 |
C |
A |
4: 114,765,702 (GRCm39) |
G106V |
unknown |
Het |
| Ggcx |
A |
T |
6: 72,394,966 (GRCm39) |
M115L |
possibly damaging |
Het |
| Gm21976 |
G |
A |
13: 98,423,821 (GRCm39) |
R72H |
unknown |
Het |
| Hsf2 |
T |
C |
10: 57,372,013 (GRCm39) |
V38A |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,505,274 (GRCm39) |
Y8C |
possibly damaging |
Het |
| Il31ra |
A |
C |
13: 112,666,908 (GRCm39) |
L390R |
probably damaging |
Het |
| Kif1a |
A |
T |
1: 92,947,621 (GRCm39) |
Y1614N |
probably damaging |
Het |
| Mef2b |
C |
A |
8: 70,619,526 (GRCm39) |
T267K |
probably benign |
Het |
| Mfsd8 |
A |
G |
3: 40,786,446 (GRCm39) |
|
probably null |
Het |
| Mnx1 |
G |
T |
5: 29,683,110 (GRCm39) |
A55E |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,354,969 (GRCm39) |
I949F |
possibly damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Ntpcr |
G |
A |
8: 126,462,626 (GRCm39) |
|
probably null |
Het |
| Or12j3 |
T |
G |
7: 139,953,166 (GRCm39) |
Y119S |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,457 (GRCm39) |
|
probably benign |
Het |
| Pask |
T |
C |
1: 93,242,081 (GRCm39) |
Y1212C |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,331,190 (GRCm39) |
K265R |
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,508,673 (GRCm39) |
H844R |
probably benign |
Het |
| Ppp6r1 |
T |
C |
7: 4,646,376 (GRCm39) |
T136A |
possibly damaging |
Het |
| Rab35 |
A |
G |
5: 115,783,767 (GRCm39) |
N185D |
probably benign |
Het |
| Rdh1 |
A |
T |
10: 127,599,083 (GRCm39) |
D188V |
probably damaging |
Het |
| Rimbp3 |
A |
T |
16: 17,030,140 (GRCm39) |
D1188V |
probably benign |
Het |
| Robo2 |
C |
T |
16: 73,717,570 (GRCm39) |
G100S |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
C |
7: 28,775,664 (GRCm39) |
D2282E |
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,588,015 (GRCm39) |
L2642P |
probably damaging |
Het |
| Sez6 |
A |
T |
11: 77,864,630 (GRCm39) |
Y530F |
probably damaging |
Het |
| Slc12a2 |
A |
G |
18: 58,077,116 (GRCm39) |
Y1205C |
possibly damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,203,247 (GRCm39) |
H49L |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,677,280 (GRCm39) |
V1503D |
probably damaging |
Het |
| Spata31e3 |
G |
T |
13: 50,400,326 (GRCm39) |
Q667K |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,063,591 (GRCm39) |
N1007S |
probably benign |
Het |
| Tpk1 |
A |
T |
6: 43,400,594 (GRCm39) |
C143S |
probably damaging |
Het |
| Wdr20 |
A |
T |
12: 110,760,536 (GRCm39) |
H474L |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,167,174 (GRCm39) |
|
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,808,497 (GRCm39) |
T1516A |
probably benign |
Het |
| Zfp462 |
G |
A |
4: 55,023,573 (GRCm39) |
A2121T |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
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'- CATCGAAGGTGGGCAGGATTTC -3'
(R):5'- TGGGAGATATCTGAAAGCCAC -3'
Sequencing Primer
(F):5'- GGCAGGATTTCATACACTTTGAG -3'
(R):5'- ACTTCAAGTACCCAATCGTGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation