Incidental Mutation 'IGL01458:Panx3'
| ID |
84889 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Panx3
|
| Ensembl Gene |
ENSMUSG00000011118 |
| Gene Name |
pannexin 3 |
| Synonyms |
4833413G11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01458
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
37571198-37580518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37572443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 369
(M369K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011262]
[ENSMUST00000117654]
[ENSMUST00000142228]
[ENSMUST00000142736]
|
| AlphaFold |
Q8CEG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000011262
AA Change: M369K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000011262
Gene: ENSMUSG00000011118
AA Change: M369K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Innexin
|
33 |
270 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117654
|
| SMART Domains |
Protein: ENSMUSP00000112600
Gene: ENSMUSG00000011114
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
|
coiled coil region
|
56 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
156 |
N/A |
INTRINSIC |
|
FYRN
|
192 |
235 |
1.05e-18 |
SMART |
|
Pfam:FYRC
|
238 |
316 |
1.4e-23 |
PFAM |
|
low complexity region
|
349 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134711
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142228
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142736
|
| Coding Region Coverage |
|
| 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 known to be the structural components of gap junctions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit protection against surgically induced osteoarthritis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433N12Rik |
A |
T |
9: 3,134,008 (GRCm39) |
|
noncoding transcript |
Het |
| Akap12 |
A |
G |
10: 4,304,060 (GRCm39) |
E290G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,601 (GRCm39) |
C364* |
probably null |
Het |
| Akr1c18 |
A |
T |
13: 4,187,143 (GRCm39) |
Y198N |
probably damaging |
Het |
| Aurka |
T |
C |
2: 172,210,899 (GRCm39) |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,586,135 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,843,879 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,232,195 (GRCm39) |
E271G |
probably damaging |
Het |
| Eif1ad4 |
A |
T |
12: 87,862,158 (GRCm39) |
K7* |
probably null |
Het |
| Evi5 |
G |
A |
5: 107,963,513 (GRCm39) |
A354V |
probably damaging |
Het |
| Fcer2a |
T |
A |
8: 3,738,151 (GRCm39) |
R137S |
probably benign |
Het |
| Fto |
A |
G |
8: 92,168,344 (GRCm39) |
T266A |
probably benign |
Het |
| Fzd4 |
G |
A |
7: 89,053,943 (GRCm39) |
V17I |
unknown |
Het |
| Gadd45b |
T |
C |
10: 80,767,075 (GRCm39) |
L105P |
probably damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,743 (GRCm39) |
S137G |
probably damaging |
Het |
| Gpr135 |
T |
C |
12: 72,116,442 (GRCm39) |
M442V |
probably benign |
Het |
| Kcnq1 |
T |
A |
7: 142,748,015 (GRCm39) |
Y330* |
probably null |
Het |
| Kdm5b |
A |
G |
1: 134,549,724 (GRCm39) |
R1106G |
possibly damaging |
Het |
| Lrrc8e |
C |
T |
8: 4,286,141 (GRCm39) |
R789W |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,485,853 (GRCm39) |
L644P |
probably damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,281,784 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or10ag56 |
C |
T |
2: 87,139,826 (GRCm39) |
T251I |
probably damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,532 (GRCm39) |
I207N |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,882,307 (GRCm39) |
N70D |
probably benign |
Het |
| Plet1 |
A |
G |
9: 50,406,017 (GRCm39) |
N52S |
probably benign |
Het |
| Prss1l |
T |
G |
6: 41,373,621 (GRCm39) |
D161E |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,088,741 (GRCm39) |
M1K |
probably null |
Het |
| Ptprz1 |
A |
T |
6: 22,972,843 (GRCm39) |
D251V |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,114,064 (GRCm39) |
Y88H |
possibly damaging |
Het |
| Siglecf |
G |
A |
7: 43,004,562 (GRCm39) |
R297Q |
possibly damaging |
Het |
| Tbx15 |
T |
C |
3: 99,223,544 (GRCm39) |
V244A |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,574,855 (GRCm39) |
|
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,687,781 (GRCm39) |
C81R |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,941,187 (GRCm39) |
S744T |
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,062,099 (GRCm39) |
T234I |
probably damaging |
Het |
|
| Other mutations in Panx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Panx3
|
APN |
9 |
37,572,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01371:Panx3
|
APN |
9 |
37,572,771 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01637:Panx3
|
APN |
9 |
37,575,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1693:Panx3
|
UTSW |
9 |
37,580,242 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1693:Panx3
|
UTSW |
9 |
37,580,203 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1708:Panx3
|
UTSW |
9 |
37,572,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1818:Panx3
|
UTSW |
9 |
37,575,322 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2142:Panx3
|
UTSW |
9 |
37,577,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Panx3
|
UTSW |
9 |
37,580,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5981:Panx3
|
UTSW |
9 |
37,580,177 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6273:Panx3
|
UTSW |
9 |
37,578,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6429:Panx3
|
UTSW |
9 |
37,572,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6768:Panx3
|
UTSW |
9 |
37,575,322 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7082:Panx3
|
UTSW |
9 |
37,577,913 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7165:Panx3
|
UTSW |
9 |
37,575,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Panx3
|
UTSW |
9 |
37,572,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7494:Panx3
|
UTSW |
9 |
37,572,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7629:Panx3
|
UTSW |
9 |
37,572,740 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7650:Panx3
|
UTSW |
9 |
37,572,701 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8032:Panx3
|
UTSW |
9 |
37,572,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8383:Panx3
|
UTSW |
9 |
37,578,049 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9425:Panx3
|
UTSW |
9 |
37,572,393 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9545:Panx3
|
UTSW |
9 |
37,575,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9726:Panx3
|
UTSW |
9 |
37,572,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-11 |
Incidental Mutation