Mutagenetix > Incidental Mutation

Incidental Mutation 'R8778:Gjd3'

670132

Institutional Source

Beutler Lab

Gene Symbol

Gjd3

Ensembl Gene

ENSMUSG00000047197

Gene Name

gap junction protein, delta 3

Synonyms

Gja11, connexin 30.2, cx30.2, connexin-30.2, Gjc1

MMRRC Submission

068603-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R8778 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98873006-98873842 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 98873842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000055246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062931]

AlphaFold

Q91YD1

Predicted Effect

probably null
Transcript: ENSMUST00000062931
AA Change: M1V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055246
Gene: ENSMUSG00000047197
AA Change: M1V

Domain	Start	End	E-Value	Type
CNX	43	76	1.85e-14	SMART
Connexin_CCC	146	212	3.14e-35	SMART
low complexity region	222	234	N/A	INTRINSIC
low complexity region	251	268	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accelerated atrioventricular nodal conduction velocity in the heart but no significant alterations in excitability or fast network oscillations in the hippocampus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,149 (GRCm39)	C345S	possibly damaging	Het
Acod1	A	G	14: 103,292,918 (GRCm39)	T481A	probably benign	Het
Adamtsl1	T	C	4: 85,432,687 (GRCm39)	V5A	probably benign	Het
Ahnak2	T	A	12: 112,783,158 (GRCm38)	Q1023L		Het
Akt1	C	T	12: 112,625,102 (GRCm39)	E149K	probably benign	Het
Arhgap10	T	C	8: 78,140,240 (GRCm39)	E240G	probably damaging	Het
Asap1	G	A	15: 63,999,258 (GRCm39)	P516S	probably benign	Het
Ccdc88c	T	C	12: 100,911,483 (GRCm39)	R784G	probably benign	Het
Cep290	T	A	10: 100,350,374 (GRCm39)	L656*	probably null	Het
Chd2	A	C	7: 73,079,483 (GRCm39)	S1806A	possibly damaging	Het
Cyp4f15	G	T	17: 32,921,378 (GRCm39)	A475S	probably damaging	Het
Dnah12	A	G	14: 26,455,718 (GRCm39)	T814A	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Eif4g1	G	A	16: 20,492,196 (GRCm39)		probably benign	Het
Entpd8	G	A	2: 24,971,858 (GRCm39)	V9I	probably benign	Het
Frmd4a	C	T	2: 4,478,026 (GRCm39)	T65M	probably damaging	Het
Gabrr2	T	C	4: 33,095,517 (GRCm39)	Y469H	probably damaging	Het
Golga7	T	C	8: 23,735,944 (GRCm39)	N101D	possibly damaging	Het
Hebp1	A	G	6: 135,145,068 (GRCm39)	F10L	probably benign	Het
Hs3st3a1	T	A	11: 64,327,251 (GRCm39)	V120E	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Iho1	A	G	9: 108,282,807 (GRCm39)	S294P	probably damaging	Het
Inhbc	A	G	10: 127,193,693 (GRCm39)	S108P	probably damaging	Het
Itgbl1	T	A	14: 124,078,075 (GRCm39)	D188E	probably benign	Het
Lmo7	T	G	14: 102,149,503 (GRCm39)	S1091A	probably damaging	Het
Lmo7	T	C	14: 102,156,655 (GRCm39)	V1275A	probably benign	Het
Lrrc25	T	G	8: 71,070,242 (GRCm39)	L8V	possibly damaging	Het
Lyst	T	C	13: 13,810,361 (GRCm39)	I677T	possibly damaging	Het
Lyst	A	G	13: 13,903,152 (GRCm39)	N3174S	possibly damaging	Het
Mgst3	C	T	1: 167,203,032 (GRCm39)	V80I	probably benign	Het
Mtmr12	A	G	15: 12,270,006 (GRCm39)	N698S	probably benign	Het
Myo18a	A	G	11: 77,714,150 (GRCm39)	Y748C	probably damaging	Het
Myoz2	T	C	3: 122,800,156 (GRCm39)	N224S	possibly damaging	Het
Nebl	T	C	2: 17,409,078 (GRCm39)	Y340C	probably damaging	Het
Or10h28	T	C	17: 33,488,420 (GRCm39)	S241P	probably damaging	Het
Pcdha9	G	T	18: 37,132,244 (GRCm39)	V438L	possibly damaging	Het
Pramel13	T	C	4: 144,119,466 (GRCm39)	D367G	probably damaging	Het
Semp2l2b	T	A	10: 21,943,356 (GRCm39)	E208V	probably damaging	Het
Sfrp2	T	G	3: 83,674,093 (GRCm39)	L82R	probably damaging	Het
Spata7	T	A	12: 98,624,815 (GRCm39)	L239Q	probably damaging	Het
Syncrip	A	T	9: 88,338,294 (GRCm39)	I590N	unknown	Het
Syne1	T	C	10: 5,309,066 (GRCm39)	T648A	probably benign	Het
Tmc5	A	G	7: 118,222,816 (GRCm39)	Y172C	unknown	Het
Trim30a	A	T	7: 104,060,772 (GRCm39)	Y335N	probably benign	Het
Trmt10c	A	G	16: 55,855,372 (GRCm39)	S88P	probably benign	Het
Trpc3	T	C	3: 36,725,070 (GRCm39)	E302G	probably damaging	Het
Ttn	T	C	2: 76,591,580 (GRCm39)	T21030A	possibly damaging	Het
Uba6	G	T	5: 86,260,556 (GRCm39)	P1039T	possibly damaging	Het
Vmn2r75	A	T	7: 85,813,497 (GRCm39)	I435N	probably benign	Het
Zfp1008	T	C	13: 62,753,169 (GRCm39)	K73E	possibly damaging	Het
Zkscan5	T	C	5: 145,155,142 (GRCm39)	V271A	probably benign	Het

Other mutations in Gjd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Gjd3	APN	11	102,691,552 (GRCm39)	missense	probably benign	0.16
IGL02083:Gjd3	APN	11	98,873,587 (GRCm39)	missense	probably damaging	1.00
IGL03164:Gjd3	APN	11	102,691,547 (GRCm39)	missense	possibly damaging	0.81
IGL03396:Gjd3	APN	11	102,691,353 (GRCm39)	missense	probably benign	0.00
PIT4812001:Gjd3	UTSW	11	102,691,807 (GRCm39)	nonsense	probably null
R0683:Gjd3	UTSW	11	102,691,237 (GRCm39)	missense	probably benign	0.00
R1642:Gjd3	UTSW	11	98,873,535 (GRCm39)	missense	probably benign	0.01
R1712:Gjd3	UTSW	11	102,691,706 (GRCm39)	missense	possibly damaging	0.96
R2267:Gjd3	UTSW	11	98,873,227 (GRCm39)	missense	probably damaging	0.98
R3853:Gjd3	UTSW	11	102,690,952 (GRCm39)	missense	probably benign	0.10
R4397:Gjd3	UTSW	11	98,873,247 (GRCm39)	missense	probably damaging	1.00
R4948:Gjd3	UTSW	11	102,691,247 (GRCm39)	missense	probably damaging	1.00
R5564:Gjd3	UTSW	11	102,691,029 (GRCm39)	missense	probably benign	0.04
R5811:Gjd3	UTSW	11	98,873,226 (GRCm39)	missense	possibly damaging	0.94
R6577:Gjd3	UTSW	11	102,691,130 (GRCm39)	missense	possibly damaging	0.69
R6939:Gjd3	UTSW	11	102,691,733 (GRCm39)	missense	probably damaging	0.98
R7263:Gjd3	UTSW	11	102,690,963 (GRCm39)	missense	possibly damaging	0.69
R7352:Gjd3	UTSW	11	102,691,278 (GRCm39)	missense	probably damaging	1.00
R7578:Gjd3	UTSW	11	98,873,301 (GRCm39)	missense	probably damaging	0.99
R7657:Gjd3	UTSW	11	98,873,586 (GRCm39)	nonsense	probably null
R7900:Gjd3	UTSW	11	102,690,920 (GRCm39)	missense	probably benign	0.00
R8187:Gjd3	UTSW	11	102,691,381 (GRCm39)	nonsense	probably null
R8544:Gjd3	UTSW	11	98,873,488 (GRCm39)	nonsense	probably null
R8704:Gjd3	UTSW	11	98,873,445 (GRCm39)	missense	probably damaging	1.00
R8883:Gjd3	UTSW	11	102,691,769 (GRCm39)	missense	probably damaging	0.98
R8924:Gjd3	UTSW	11	98,873,325 (GRCm39)	missense	probably damaging	1.00
Z1176:Gjd3	UTSW	11	102,690,834 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTAGATGACGAACAGCACCG -3'
(R):5'- TGGACTATCCTCACACTCTGAC -3'

Sequencing Primer
(F):5'- ATCGTAGCAGGTCTGGCGAC -3'
(R):5'- TCTGACATTAACTCATTAAACCCCAG -3'

Posted On

2021-04-30