Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01402:Gjc3'

278370

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gjc3

Ensembl Gene

ENSMUSG00000056966

Gene Name

gap junction protein, gamma 3

Synonyms

connexin 29, Cx29, Gje1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01402

Quality Score

Status

Chromosome

Chromosomal Location

137951723-137961360 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137956120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 55 (F55S)

Ref Sequence

ENSEMBL: ENSMUSP00000076367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077119]

AlphaFold

Q921C1

Predicted Effect

probably damaging
Transcript: ENSMUST00000077119
AA Change: F55S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076367
Gene: ENSMUSG00000056966
AA Change: F55S

Domain	Start	End	E-Value	Type
Blast:CNX	53	86	7e-11	BLAST
Connexin_CCC	159	225	8.64e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199083

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]
PHENOTYPE: Half of homozygotes for a null allele show delayed maturation of hearing thresholds, high-frequency hearing loss, vulnerability to noise damage and demyelination of spiral ganglion neurons. Homozygotes for another null allele show normal sciatic nerve conduction with no auditory or visual deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,653 (GRCm39)	S351P	possibly damaging	Het
Abca2	T	C	2: 25,332,015 (GRCm39)	S1376P	probably damaging	Het
Ablim3	A	G	18: 62,004,754 (GRCm39)	Y12H	probably damaging	Het
Akr1b7	A	G	6: 34,398,052 (GRCm39)	R294G	possibly damaging	Het
Aldh3b1	A	C	19: 3,971,205 (GRCm39)	V153G	probably benign	Het
Alk	A	T	17: 72,181,173 (GRCm39)	H1372Q	probably damaging	Het
Ano9	A	C	7: 140,681,955 (GRCm39)	Y731*	probably null	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Asl	T	C	5: 130,048,645 (GRCm39)	E43G	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cfap43	T	C	19: 47,784,105 (GRCm39)	D476G	probably benign	Het
Cpa1	A	G	6: 30,645,275 (GRCm39)	H417R	possibly damaging	Het
Cpeb3	T	C	19: 37,065,948 (GRCm39)	D407G	probably benign	Het
Dcaf15	A	T	8: 84,825,026 (GRCm39)	C469S	probably damaging	Het
Dpy19l4	C	A	4: 11,273,006 (GRCm39)		probably null	Het
E4f1	A	T	17: 24,663,208 (GRCm39)	L699Q	probably damaging	Het
Eif4g2	A	G	7: 110,676,234 (GRCm39)	F349S	possibly damaging	Het
Ermap	T	C	4: 119,044,355 (GRCm39)	Y147C	probably damaging	Het
Frk	A	C	10: 34,423,381 (GRCm39)	E153A	probably damaging	Het
Fubp3	G	A	2: 31,494,733 (GRCm39)		probably null	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Gm10762	C	T	2: 128,809,005 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,493,048 (GRCm39)	I291T	possibly damaging	Het
Gpr179	C	A	11: 97,229,012 (GRCm39)	G1048*	probably null	Het
Hectd3	G	T	4: 116,853,262 (GRCm39)	R163L	probably damaging	Het
Hectd4	T	C	5: 121,477,480 (GRCm39)		probably benign	Het
Ifnb1	T	C	4: 88,440,480 (GRCm39)	R178G	probably benign	Het
Ino80	T	A	2: 119,287,199 (GRCm39)	D56V	possibly damaging	Het
Kctd1	T	A	18: 15,102,610 (GRCm39)	Q857L	probably damaging	Het
Kdm5a	T	A	6: 120,367,640 (GRCm39)	L445*	probably null	Het
Lins1	G	A	7: 66,363,676 (GRCm39)	V524I	probably damaging	Het
Lrp1	A	T	10: 127,430,901 (GRCm39)	Y383N	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mgam	A	C	6: 40,621,879 (GRCm39)	K84Q	probably benign	Het
Mlh3	A	T	12: 85,314,703 (GRCm39)	F494L	probably benign	Het
Mpped1	T	C	15: 83,676,414 (GRCm39)	F60S	possibly damaging	Het
Myo1e	A	G	9: 70,245,048 (GRCm39)	Y382C	probably benign	Het
Ncor1	C	A	11: 62,231,300 (GRCm39)	V836F	probably damaging	Het
Nktr	G	A	9: 121,570,218 (GRCm39)		probably null	Het
Or10al4	A	G	17: 38,037,193 (GRCm39)	T93A	probably benign	Het
Or4d5	A	G	9: 40,012,558 (GRCm39)	I76T	probably benign	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Rnf144a	T	A	12: 26,377,300 (GRCm39)	Y93F	probably benign	Het
Rubcn	G	A	16: 32,647,666 (GRCm39)	T636M	probably damaging	Het
Scn5a	A	C	9: 119,315,536 (GRCm39)	L1724R	probably damaging	Het
Sel1l	A	G	12: 91,808,607 (GRCm39)	S45P	possibly damaging	Het
Serpina3k	A	G	12: 104,306,882 (GRCm39)	D38G	probably benign	Het
Sh3bgr	A	C	16: 96,007,690 (GRCm39)	K18N	probably damaging	Het
Slc28a2	T	G	2: 122,282,538 (GRCm39)	I287M	probably damaging	Het
St8sia6	T	C	2: 13,670,318 (GRCm39)	N214S	probably damaging	Het
Syt11	A	G	3: 88,669,523 (GRCm39)	I123T	probably benign	Het
Tcerg1l	A	T	7: 137,861,568 (GRCm39)	I387N	probably damaging	Het
Tfg	C	A	16: 56,514,856 (GRCm39)		probably benign	Het
Tgm4	A	G	9: 122,880,519 (GRCm39)	K307E	possibly damaging	Het
Tmem177	T	C	1: 119,837,791 (GRCm39)	D296G	probably damaging	Het
Tmem270	C	T	5: 134,930,763 (GRCm39)		probably benign	Het
Tnrc6b	G	T	15: 80,764,745 (GRCm39)	G749V	possibly damaging	Het
Trp63	C	A	16: 25,639,135 (GRCm39)		probably benign	Het
Ugt1a8	T	C	1: 88,015,617 (GRCm39)	L10P	probably benign	Het
Vmn2r107	A	T	17: 20,596,009 (GRCm39)	K854M	probably damaging	Het
Vmn2r45	T	C	7: 8,484,467 (GRCm39)	N446S	probably damaging	Het
Vps13c	A	T	9: 67,820,486 (GRCm39)		probably null	Het
Wdr91	G	A	6: 34,865,998 (GRCm39)	P518L	probably benign	Het
Yap1	G	A	9: 7,934,742 (GRCm39)		probably benign	Het
Zfp282	A	C	6: 47,874,770 (GRCm39)	D325A	probably damaging	Het

Other mutations in Gjc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Gjc3	APN	5	137,956,120 (GRCm39)	missense	probably damaging	0.97
IGL02741:Gjc3	APN	5	137,955,726 (GRCm39)	nonsense	probably null
R0130:Gjc3	UTSW	5	137,956,202 (GRCm39)	missense	probably benign	0.15
R0322:Gjc3	UTSW	5	137,955,760 (GRCm39)	missense	possibly damaging	0.87
R2141:Gjc3	UTSW	5	137,955,808 (GRCm39)	missense	probably damaging	1.00
R3885:Gjc3	UTSW	5	137,956,105 (GRCm39)	missense	possibly damaging	0.74
R3889:Gjc3	UTSW	5	137,956,105 (GRCm39)	missense	possibly damaging	0.74
R5209:Gjc3	UTSW	5	137,955,533 (GRCm39)	missense	probably benign	0.43
R5444:Gjc3	UTSW	5	137,955,809 (GRCm39)	missense	probably damaging	1.00
R6964:Gjc3	UTSW	5	137,955,759 (GRCm39)	missense	probably benign	0.04
R8514:Gjc3	UTSW	5	137,955,772 (GRCm39)	missense	probably damaging	1.00
Z1177:Gjc3	UTSW	5	137,955,823 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16