Mutagenetix > Incidental Mutation

Incidental Mutation 'R7578:Gjd3'

586597

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

045663-MU

Accession Numbers

Essential gene?

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

Stock #

R7578 (G1)

Quality Score

205.009

Status

Validated

Chromosome

Chromosomal Location

98873006-98873842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98873301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 181 (V181A)

Ref Sequence

ENSEMBL: ENSMUSP00000055246 (fasta)

Gene Model

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

AlphaFold

Q91YD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000062931
AA Change: V181A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055246
Gene: ENSMUSG00000047197
AA Change: V181A

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

97% (66/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,120,343 (GRCm39)	V165E	probably damaging	Het
1700025G04Rik	T	G	1: 151,796,841 (GRCm39)	T75P	probably benign	Het
4930516K23Rik	T	C	7: 103,708,104 (GRCm39)	E235G	probably benign	Het
Adam15	A	G	3: 89,251,499 (GRCm39)	C449R	probably damaging	Het
Adam24	T	C	8: 41,133,294 (GRCm39)	V254A	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Aldh1a1	A	C	19: 20,595,366 (GRCm39)	R98S	probably damaging	Het
Alg9	A	G	9: 50,700,835 (GRCm39)	I202V	probably benign	Het
Anks1b	G	A	10: 89,885,789 (GRCm39)	E162K	probably damaging	Het
Atp6v1b2	A	G	8: 69,556,128 (GRCm39)	T268A	probably benign	Het
Atxn1	C	T	13: 45,720,834 (GRCm39)	V354I	probably benign	Het
B3galt1	A	G	2: 67,948,896 (GRCm39)	T204A	probably damaging	Het
Catsperb	T	A	12: 101,554,544 (GRCm39)	I746K	probably benign	Het
Cdh23	G	A	10: 60,243,186 (GRCm39)	T1063M	probably benign	Het
Cherp	G	A	8: 73,218,102 (GRCm39)	R543C		Het
Cldn20	A	G	17: 3,583,274 (GRCm39)	D149G	probably damaging	Het
Clk2	A	G	3: 89,083,807 (GRCm39)	Q474R	probably benign	Het
Cp	A	G	3: 20,043,262 (GRCm39)	T1017A	possibly damaging	Het
Cyp2c39	T	C	19: 39,499,400 (GRCm39)	L29P	probably damaging	Het
Ebf3	C	T	7: 136,915,261 (GRCm39)	V93M	probably damaging	Het
Eef1akmt1	T	A	14: 57,787,328 (GRCm39)	M183L	probably damaging	Het
Fhip1a	G	T	3: 85,573,205 (GRCm39)	L915I	probably damaging	Het
Filip1l	A	G	16: 57,333,645 (GRCm39)	E146G	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,293 (GRCm39)	S283G	possibly damaging	Het
Fras1	A	T	5: 96,832,296 (GRCm39)	Y1543F	probably damaging	Het
Garin2	T	C	12: 78,762,275 (GRCm39)		probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm49368	T	A	7: 127,711,430 (GRCm39)	C711*	probably null	Het
Gtf3c2	A	G	5: 31,330,341 (GRCm39)	S210P	probably benign	Het
Herc2	A	G	7: 55,784,548 (GRCm39)	Y1404C	probably benign	Het
Il22ra2	T	A	10: 19,507,372 (GRCm39)	D128E	probably benign	Het
Itgav	T	A	2: 83,578,219 (GRCm39)	D113E	probably benign	Het
Kcnd3	A	G	3: 105,366,933 (GRCm39)	M268V	probably benign	Het
Kirrel3	G	T	9: 34,850,408 (GRCm39)	G19V	probably damaging	Het
Klf17	T	G	4: 117,617,916 (GRCm39)	Y147S	possibly damaging	Het
Leng1	C	T	7: 3,668,382 (GRCm39)	R22H	probably damaging	Het
Lysmd4	T	A	7: 66,876,037 (GRCm39)	Y233*	probably null	Het
Lyzl6	A	G	11: 103,525,832 (GRCm39)	V96A	probably benign	Het
Mki67	T	C	7: 135,302,644 (GRCm39)	T797A	possibly damaging	Het
Nuf2	G	T	1: 169,332,097 (GRCm39)	H399Q	probably benign	Het
Nuggc	T	C	14: 65,885,623 (GRCm39)	V766A	probably damaging	Het
Oas1c	A	T	5: 120,940,244 (GRCm39)	D307E	probably damaging	Het
Odad2	A	T	18: 7,211,593 (GRCm39)	D760E	probably benign	Het
Or10aa3	T	A	1: 173,878,266 (GRCm39)	M109K	possibly damaging	Het
Or6c5b	T	C	10: 129,245,544 (GRCm39)	I103T	probably damaging	Het
P4ha3	T	C	7: 99,943,121 (GRCm39)	Y169H	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,417,585 (GRCm39)	D2522G	probably damaging	Het
Prickle2	T	C	6: 92,388,271 (GRCm39)	D433G	probably benign	Het
Ptcd3	A	G	6: 71,885,691 (GRCm39)	S12P	probably benign	Het
Ptpn23	T	A	9: 110,216,676 (GRCm39)	Q1060L	probably benign	Het
Rai14	G	T	15: 10,574,914 (GRCm39)	N710K	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Satb2	A	G	1: 56,910,943 (GRCm39)	V234A	probably benign	Het
Scg2	T	C	1: 79,414,612 (GRCm39)	Q37R	probably damaging	Het
Slc35e3	A	T	10: 117,576,484 (GRCm39)	S230T	probably damaging	Het
Slc39a2	T	C	14: 52,132,873 (GRCm39)	V272A	probably damaging	Het
Smg7	T	A	1: 152,721,181 (GRCm39)	Y677F	probably damaging	Het
Spinkl	A	G	18: 44,301,213 (GRCm39)	Y42H	probably damaging	Het
Srsf6	T	C	2: 162,774,782 (GRCm39)	F102L	probably benign	Het
Sstr3	T	C	15: 78,424,717 (GRCm39)	E10G	probably benign	Het
Tekt3	A	T	11: 62,985,486 (GRCm39)	I431F	probably damaging	Het
Trio	C	T	15: 27,855,025 (GRCm39)	R778H	possibly damaging	Het
Ush2a	T	A	1: 188,282,110 (GRCm39)	V1875D	probably damaging	Het
Vmn2r29	A	C	7: 7,234,441 (GRCm39)	I815S	probably damaging	Het
Vmn2r78	A	T	7: 86,603,552 (GRCm39)	K577*	probably null	Het
Vps26c	A	C	16: 94,299,928 (GRCm39)	N275K	probably damaging	Het
Yes1	G	A	5: 32,802,430 (GRCm39)	R115Q	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
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
R8778:Gjd3	UTSW	11	98,873,842 (GRCm39)	start codon destroyed	probably null	0.99
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'- TGATATCCAGCCTCCGATCTCG -3'
(R):5'- GTCATCTACTCCATGCACCAG -3'

Sequencing Primer
(F):5'- TAGCCAGCGACGCTTTG -3'
(R):5'- TCCATGCACCAGGCCAG -3'

Posted On

2019-10-24