Incidental Mutation 'R5981:Panx3'
| ID |
481416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Panx3
|
| Ensembl Gene |
ENSMUSG00000011118 |
| Gene Name |
pannexin 3 |
| Synonyms |
4833413G11Rik |
| MMRRC Submission |
043250-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
37571198-37580518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37580177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 59
(S59P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011262]
[ENSMUST00000142228]
|
| AlphaFold |
Q8CEG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000011262
AA Change: S59P
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000011262
Gene: ENSMUSG00000011118
AA Change: S59P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Innexin
|
33 |
270 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142228
AA Change: S59P
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215047
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,659,299 (GRCm39) |
Y251H |
probably benign |
Het |
| Ccr3 |
G |
A |
9: 123,828,820 (GRCm39) |
G52S |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,993,661 (GRCm39) |
L1992P |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,515,293 (GRCm39) |
K23E |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,585,788 (GRCm39) |
R1224C |
probably damaging |
Het |
| Cox7c |
A |
T |
13: 86,194,780 (GRCm39) |
S5R |
possibly damaging |
Het |
| Eps8 |
A |
G |
6: 137,459,208 (GRCm39) |
V765A |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,863,307 (GRCm39) |
D104G |
possibly damaging |
Het |
| Gm11032 |
T |
C |
11: 4,571,697 (GRCm39) |
V34A |
probably benign |
Het |
| Hid1 |
G |
A |
11: 115,241,774 (GRCm39) |
T612I |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,313,664 (GRCm39) |
T1968I |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,905,229 (GRCm39) |
D444G |
probably damaging |
Het |
| Ms4a1 |
T |
C |
19: 11,229,180 (GRCm39) |
E242G |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,255,405 (GRCm39) |
D216G |
probably damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,814,907 (GRCm39) |
D466G |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,597,605 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
T |
C |
13: 35,070,693 (GRCm39) |
S427P |
probably benign |
Het |
| Rbm44 |
T |
C |
1: 91,080,411 (GRCm39) |
S166P |
possibly damaging |
Het |
| Recql |
A |
G |
6: 142,318,604 (GRCm39) |
L213P |
probably damaging |
Het |
| Rwdd1 |
A |
G |
10: 33,885,081 (GRCm39) |
Y60H |
probably damaging |
Het |
| Sult1b1 |
A |
C |
5: 87,682,816 (GRCm39) |
I43R |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,947,849 (GRCm39) |
V597E |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,490,394 (GRCm39) |
I177F |
probably damaging |
Het |
| Zfp410 |
A |
G |
12: 84,378,414 (GRCm39) |
E193G |
probably benign |
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 |
|
IGL01458:Panx3
|
APN |
9 |
37,572,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGTTTGGTGCTTCTGCTC -3'
(R):5'- TCGCTTAGGGTAGCATTTTCCTC -3'
Sequencing Primer
(F):5'- GCTCTTCTGATGTCCCATACTTACG -3'
(R):5'- TCAGCAGCATCATGTCGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation