Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Panx3'

93053

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) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

37659902-37669235 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37664056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 170 (D170G)

Ref Sequence

ENSEMBL: ENSMUSP00000011262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011262] [ENSMUST00000142228]

AlphaFold

Q8CEG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000011262
AA Change: D170G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000011262
Gene: ENSMUSG00000011118
AA Change: D170G

Domain	Start	End	E-Value	Type
Pfam:Innexin	33	270	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215047

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,904,684 (GRCm38)	I384N	probably damaging	Het
Adsl	G	T	15: 80,948,700 (GRCm38)	Q51H	probably null	Het
Apcdd1	A	G	18: 62,937,286 (GRCm38)	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,744,832 (GRCm38)	R155*	probably null	Het
Atp9b	T	C	18: 80,756,455 (GRCm38)	E823G	probably benign	Het
Bmp1	A	G	14: 70,492,461 (GRCm38)	W468R	probably damaging	Het
C6	A	G	15: 4,759,917 (GRCm38)	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,846,710 (GRCm38)	T1392A	probably benign	Het
Dhx34	G	T	7: 16,205,473 (GRCm38)	S665Y	probably damaging	Het
Dock1	A	T	7: 135,137,813 (GRCm38)		probably null	Het
Dpp7	T	C	2: 25,354,613 (GRCm38)	N252S	probably benign	Het
Dyrk2	A	G	10: 118,860,507 (GRCm38)	V282A	probably damaging	Het
Edrf1	T	C	7: 133,650,525 (GRCm38)	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724 (GRCm38)	V150A	probably benign	Het
Fam170a	A	T	18: 50,281,667 (GRCm38)	M127L	possibly damaging	Het
Gabrg1	T	A	5: 70,777,205 (GRCm38)	T277S	probably damaging	Het
Galntl5	T	C	5: 25,189,825 (GRCm38)		probably benign	Het
Gbp2b	A	G	3: 142,598,312 (GRCm38)	N56S	probably damaging	Het
Gfm2	T	A	13: 97,150,409 (GRCm38)	V172E	probably damaging	Het
Gm10419	T	C	5: 108,372,358 (GRCm38)		probably benign	Het
Gm7293	A	G	9: 51,623,606 (GRCm38)		noncoding transcript	Het
Gstm3	T	C	3: 107,967,633 (GRCm38)	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,686,545 (GRCm38)	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,267,733 (GRCm38)		probably benign	Het
Ighv7-1	T	A	12: 113,896,503 (GRCm38)	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,455,583 (GRCm38)	L1009P	probably damaging	Het
Kif1a	A	G	1: 93,039,853 (GRCm38)	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,245,368 (GRCm38)	D232E	possibly damaging	Het
Klb	G	A	5: 65,375,679 (GRCm38)		probably null	Het
Lrriq1	G	A	10: 103,215,628 (GRCm38)	A421V	probably benign	Het
Mdga1	G	A	17: 29,839,871 (GRCm38)	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,550,532 (GRCm38)		probably benign	Het
Myo18b	T	A	5: 112,840,629 (GRCm38)	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,547,120 (GRCm38)	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,549,378 (GRCm38)	L594I	probably damaging	Het
Notch2	C	T	3: 98,146,060 (GRCm38)	T2013I	probably damaging	Het
Or2ah1	A	T	2: 85,822,988 (GRCm38)	T6S	probably benign	Het
Or2y3	G	A	17: 38,082,103 (GRCm38)	L292F	possibly damaging	Het
Or52s1	C	A	7: 103,212,177 (GRCm38)	R95S	probably benign	Het
Or6c216	A	G	10: 129,842,610 (GRCm38)	L144P	probably benign	Het
Or7g27	T	C	9: 19,338,964 (GRCm38)	F168S	probably damaging	Het
Pclo	A	G	5: 14,540,034 (GRCm38)	S783G	unknown	Het
Pde3b	T	A	7: 114,526,901 (GRCm38)	L790*	probably null	Het
Pik3r2	T	C	8: 70,772,348 (GRCm38)		probably benign	Het
Rassf4	A	G	6: 116,641,690 (GRCm38)	F211L	probably damaging	Het
Rbl2	C	T	8: 91,106,438 (GRCm38)	P666S	probably benign	Het
Rnf123	A	G	9: 108,058,238 (GRCm38)	F979L	probably damaging	Het
Rock2	T	A	12: 16,965,171 (GRCm38)	D788E	probably benign	Het
Serpina3b	A	G	12: 104,132,957 (GRCm38)	T244A	probably benign	Het
Setd1b	T	C	5: 123,148,513 (GRCm38)	S541P	unknown	Het
Slc12a4	T	C	8: 105,960,707 (GRCm38)	D60G	possibly damaging	Het
Stac2	T	C	11: 98,041,354 (GRCm38)	E241G	probably benign	Het
Tafa3	C	T	3: 104,773,079 (GRCm38)	V75M	probably damaging	Het
Tas2r115	A	G	6: 132,737,629 (GRCm38)	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,370,085 (GRCm38)	F450I	probably benign	Het
Txnl1	A	T	18: 63,674,191 (GRCm38)	I198N	probably damaging	Het
Ubr2	A	T	17: 46,956,654 (GRCm38)	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,139,900 (GRCm38)	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066 (GRCm38)	T3623I	probably damaging	Het
Usp13	T	A	3: 32,919,064 (GRCm38)	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,702,948 (GRCm38)	T203S	probably damaging	Het
Vwf	T	A	6: 125,645,736 (GRCm38)	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,646 (GRCm38)	H676R	probably benign	Het

Other mutations in Panx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Panx3	APN	9	37,661,471 (GRCm38)	missense	probably damaging	1.00
IGL01371:Panx3	APN	9	37,661,475 (GRCm38)	missense	probably benign	0.03
IGL01458:Panx3	APN	9	37,661,147 (GRCm38)	missense	probably damaging	0.99
R1693:Panx3	UTSW	9	37,668,946 (GRCm38)	missense	possibly damaging	0.88
R1693:Panx3	UTSW	9	37,668,907 (GRCm38)	missense	possibly damaging	0.64
R1708:Panx3	UTSW	9	37,661,391 (GRCm38)	missense	probably benign	0.00
R1818:Panx3	UTSW	9	37,664,026 (GRCm38)	missense	probably benign	0.04
R2142:Panx3	UTSW	9	37,666,673 (GRCm38)	missense	probably damaging	1.00
R5386:Panx3	UTSW	9	37,669,024 (GRCm38)	missense	probably damaging	0.99
R5981:Panx3	UTSW	9	37,668,881 (GRCm38)	missense	possibly damaging	0.93
R6273:Panx3	UTSW	9	37,667,429 (GRCm38)	missense	probably benign	0.01
R6429:Panx3	UTSW	9	37,661,165 (GRCm38)	missense	probably damaging	1.00
R6768:Panx3	UTSW	9	37,664,026 (GRCm38)	missense	probably benign	0.04
R7082:Panx3	UTSW	9	37,666,617 (GRCm38)	missense	probably benign	0.25
R7165:Panx3	UTSW	9	37,664,085 (GRCm38)	missense	probably damaging	1.00
R7173:Panx3	UTSW	9	37,661,300 (GRCm38)	missense	probably damaging	0.99
R7494:Panx3	UTSW	9	37,661,312 (GRCm38)	missense	probably damaging	1.00
R7629:Panx3	UTSW	9	37,661,444 (GRCm38)	missense	possibly damaging	0.83
R7650:Panx3	UTSW	9	37,661,405 (GRCm38)	missense	probably damaging	0.97
R8032:Panx3	UTSW	9	37,661,670 (GRCm38)	missense	probably damaging	1.00
R8383:Panx3	UTSW	9	37,666,753 (GRCm38)	critical splice acceptor site	probably null
R9425:Panx3	UTSW	9	37,661,097 (GRCm38)	missense	probably benign	0.03
R9545:Panx3	UTSW	9	37,664,141 (GRCm38)	missense	probably damaging	0.99
R9726:Panx3	UTSW	9	37,661,696 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-12-09