Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02023:Gja3'

184057

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gja3

Ensembl Gene

ENSMUSG00000048582

Gene Name

gap junction protein, alpha 3

Synonyms

Cx46, alpha 3 connexin, connexin 46, Gja-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02023

Quality Score

Status

Chromosome

Chromosomal Location

57271917-57295487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 57273136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 412 (P412Q)

Ref Sequence

ENSEMBL: ENSMUSP00000059587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061614] [ENSMUST00000223792]

AlphaFold

Q64448

Predicted Effect

probably damaging
Transcript: ENSMUST00000061614
AA Change: P412Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059587
Gene: ENSMUSG00000048582
AA Change: P412Q

Domain	Start	End	E-Value	Type
CNX	43	76	4.4e-21	SMART
low complexity region	103	116	N/A	INTRINSIC
Connexin_CCC	165	231	3.36e-44	SMART
low complexity region	342	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223792

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 is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous mutants exhibit lens nuclear cataracts associated with breakdown of gamma crystallin. Severity of the defect is influenced by genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,953,942 (GRCm39)	K833E	probably benign	Het
Adam29	T	C	8: 56,325,519 (GRCm39)	I312V	probably benign	Het
Adcy8	T	A	15: 64,694,069 (GRCm39)	I403F	probably damaging	Het
Ahcyl1	A	T	3: 107,575,010 (GRCm39)	N444K	probably damaging	Het
Ang4	T	C	14: 52,001,511 (GRCm39)		probably benign	Het
Atf6b	T	C	17: 34,870,841 (GRCm39)	V401A	possibly damaging	Het
Atp7a	A	T	X: 105,138,588 (GRCm39)	I604F	probably damaging	Het
Cd151	T	C	7: 141,050,370 (GRCm39)	Y202H	probably damaging	Het
Cd99l2	A	T	X: 70,493,552 (GRCm39)	N64K	possibly damaging	Het
Cog7	C	T	7: 121,543,000 (GRCm39)		probably null	Het
Decr2	A	T	17: 26,306,354 (GRCm39)	M94K	probably benign	Het
Dock11	A	T	X: 35,232,422 (GRCm39)	H188L	probably benign	Het
Dscam	T	C	16: 96,602,397 (GRCm39)	S682G	probably benign	Het
Efcab3	A	T	11: 104,612,258 (GRCm39)		probably benign	Het
Glrb	T	C	3: 80,758,262 (GRCm39)	N333D	probably benign	Het
Gpr65	T	A	12: 98,242,127 (GRCm39)	V260D	probably benign	Het
Hormad1	A	G	3: 95,485,604 (GRCm39)	E264G	possibly damaging	Het
Hsph1	T	C	5: 149,557,324 (GRCm39)	R46G	probably damaging	Het
Hycc2	G	A	1: 58,569,274 (GRCm39)	A435V	possibly damaging	Het
Iars1	A	G	13: 49,841,725 (GRCm39)	Y71C	probably damaging	Het
Lsg1	T	C	16: 30,404,494 (GRCm39)	H35R	probably damaging	Het
Mfge8	C	T	7: 78,794,985 (GRCm39)		probably benign	Het
Mgat4c	T	A	10: 102,214,045 (GRCm39)	Y9*	probably null	Het
Mpdz	A	T	4: 81,247,766 (GRCm39)	I1074N	probably damaging	Het
Muc19	T	C	15: 91,772,453 (GRCm39)		noncoding transcript	Het
Nbea	A	T	3: 55,588,437 (GRCm39)	M2434K	probably damaging	Het
Ncoa2	A	G	1: 13,245,078 (GRCm39)	L540P	probably damaging	Het
Nhsl2	A	G	X: 101,121,858 (GRCm39)	R554G	probably damaging	Het
Npdc1	T	A	2: 25,298,032 (GRCm39)		probably benign	Het
Or2aj6	A	T	16: 19,443,158 (GRCm39)	S231T	probably benign	Het
Osbpl10	T	A	9: 115,055,790 (GRCm39)	V654D	probably damaging	Het
Plxna1	C	A	6: 89,334,314 (GRCm39)	G105V	possibly damaging	Het
Pnma8b	T	C	7: 16,679,616 (GRCm39)	V200A	probably damaging	Het
Ppard	A	G	17: 28,517,871 (GRCm39)	H313R	probably benign	Het
Rasgrp4	T	C	7: 28,838,335 (GRCm39)	L103P	probably damaging	Het
Rigi	A	G	4: 40,216,487 (GRCm39)	Y504H	possibly damaging	Het
Ripk4	A	T	16: 97,556,431 (GRCm39)	L104Q	probably damaging	Het
Setd2	T	C	9: 110,423,704 (GRCm39)	V2253A	probably benign	Het
Setdb2	A	G	14: 59,668,607 (GRCm39)	S43P	probably damaging	Het
Stab2	C	A	10: 86,707,695 (GRCm39)	G1742V	possibly damaging	Het
Timm23	A	G	14: 31,915,804 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,615,999 (GRCm39)	N14902S	possibly damaging	Het
Ush2a	A	G	1: 188,465,711 (GRCm39)	T2760A	probably benign	Het
Vmn2r25	T	C	6: 123,816,388 (GRCm39)	N398D	probably damaging	Het

Other mutations in Gja3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0470:Gja3	UTSW	14	57,273,884 (GRCm39)	missense	probably damaging	1.00
R0631:Gja3	UTSW	14	57,274,219 (GRCm39)	missense	possibly damaging	0.95
R1455:Gja3	UTSW	14	57,273,842 (GRCm39)	missense	probably damaging	1.00
R1687:Gja3	UTSW	14	57,274,333 (GRCm39)	missense	probably damaging	0.99
R2229:Gja3	UTSW	14	57,274,171 (GRCm39)	missense	probably damaging	1.00
R3846:Gja3	UTSW	14	57,273,161 (GRCm39)	nonsense	probably null
R5337:Gja3	UTSW	14	57,273,289 (GRCm39)	missense	probably benign	0.22
R5797:Gja3	UTSW	14	57,273,170 (GRCm39)	missense	probably damaging	0.98
R5940:Gja3	UTSW	14	57,273,317 (GRCm39)	missense	probably damaging	0.99
R7226:Gja3	UTSW	14	57,273,350 (GRCm39)	missense	probably benign	0.01
R8066:Gja3	UTSW	14	57,273,263 (GRCm39)	missense	probably benign	0.00
R9142:Gja3	UTSW	14	57,274,048 (GRCm39)	missense	probably benign	0.19
Z1088:Gja3	UTSW	14	57,273,272 (GRCm39)	missense	possibly damaging	0.61

Posted On

2014-05-07