Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01505:Gjd3'

89001

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gjd3

Ensembl Gene

ENSMUSG00000047197

Gene Name

gap junction protein, delta 3

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL01505

Quality Score

Status

Chromosome

Chromosomal Location

98873006-98873842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102691552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 150 (K150N)

Ref Sequence

ENSEMBL: ENSMUSP00000102690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068933] [ENSMUST00000092567] [ENSMUST00000107075]

AlphaFold

Q91YD1

Predicted Effect

probably benign
Transcript: ENSMUST00000068933
AA Change: K150N

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000066901
Gene: ENSMUSG00000034520
AA Change: K150N

Domain	Start	End	E-Value	Type
CNX	42	75	1.57e-17	SMART
low complexity region	128	137	N/A	INTRINSIC
low complexity region	147	161	N/A	INTRINSIC
Connexin_CCC	187	253	3.44e-41	SMART
coiled coil region	333	358	N/A	INTRINSIC
low complexity region	368	393	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092567
AA Change: K150N

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000090228
Gene: ENSMUSG00000034520
AA Change: K150N

Domain	Start	End	E-Value	Type
CNX	42	75	1.57e-17	SMART
low complexity region	128	137	N/A	INTRINSIC
low complexity region	147	161	N/A	INTRINSIC
Connexin_CCC	187	253	3.44e-41	SMART
coiled coil region	333	358	N/A	INTRINSIC
low complexity region	368	393	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107075
AA Change: K150N

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102690
Gene: ENSMUSG00000034520
AA Change: K150N

Domain	Start	End	E-Value	Type
CNX	42	75	1.57e-17	SMART
low complexity region	128	137	N/A	INTRINSIC
low complexity region	147	161	N/A	INTRINSIC
Connexin_CCC	187	253	3.44e-41	SMART
coiled coil region	333	358	N/A	INTRINSIC
low complexity region	368	393	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155089

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 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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	C	18: 69,080,418 (GRCm39)		probably null	Het
A2m	A	G	6: 121,653,906 (GRCm39)	N1413S	possibly damaging	Het
Aadacl4fm4	C	T	4: 144,401,188 (GRCm39)	V99M	probably damaging	Het
Arhgap45	A	T	10: 79,862,376 (GRCm39)	N488Y	probably benign	Het
Arid4a	G	A	12: 71,083,889 (GRCm39)	D94N	probably damaging	Het
Atp7a	A	G	X: 105,153,436 (GRCm39)	K1114E	probably damaging	Het
Atp8a2	C	T	14: 60,265,512 (GRCm39)	V275M	probably benign	Het
Ceacam12	T	C	7: 17,801,357 (GRCm39)	V112A	probably damaging	Het
Cep295	T	A	9: 15,229,345 (GRCm39)	D2256V	probably benign	Het
Chid1	A	T	7: 141,093,807 (GRCm39)		probably null	Het
Clcn5	A	T	X: 7,036,678 (GRCm39)	L268*	probably null	Het
Cldn17	A	G	16: 88,303,591 (GRCm39)	I46T	possibly damaging	Het
Cnot1	A	T	8: 96,455,346 (GRCm39)	I2025N	probably damaging	Het
Cntn5	C	T	9: 9,706,092 (GRCm39)	V574M	probably damaging	Het
Col14a1	T	A	15: 55,318,619 (GRCm39)	C1373S	unknown	Het
Col9a1	A	G	1: 24,224,205 (GRCm39)	N129S	unknown	Het
Cp	C	T	3: 20,031,356 (GRCm39)	P598S	possibly damaging	Het
Cpb1	G	A	3: 20,320,410 (GRCm39)	R150C	probably damaging	Het
Cyp2j7	T	A	4: 96,115,917 (GRCm39)		probably null	Het
Dnajb7	T	C	15: 81,291,692 (GRCm39)	E215G	possibly damaging	Het
Dock1	G	A	7: 134,760,239 (GRCm39)	R1634Q	possibly damaging	Het
Dop1b	A	G	16: 93,554,004 (GRCm39)	T313A	possibly damaging	Het
Fgd2	T	A	17: 29,585,971 (GRCm39)	V185E	probably damaging	Het
Flnb	T	C	14: 7,902,003 (GRCm38)		probably null	Het
Fzd7	A	G	1: 59,523,062 (GRCm39)	E315G	probably benign	Het
Gpihbp1	C	T	15: 75,469,977 (GRCm39)		probably benign	Het
Gpr160	T	C	3: 30,950,002 (GRCm39)	S25P	possibly damaging	Het
Grsf1	G	A	5: 88,820,608 (GRCm39)	R58*	probably null	Het
Ifit1	T	A	19: 34,625,854 (GRCm39)	M330K	probably benign	Het
Igkv1-122	T	C	6: 67,994,178 (GRCm39)	V22A	probably benign	Het
Ikbke	A	T	1: 131,183,048 (GRCm39)	D692E	probably benign	Het
Il15ra	T	C	2: 11,737,956 (GRCm39)		probably benign	Het
Il18rap	A	G	1: 40,576,244 (GRCm39)	I252V	probably damaging	Het
Klra10	C	T	6: 130,249,680 (GRCm39)	G202R	probably damaging	Het
Kpna7	A	G	5: 144,929,661 (GRCm39)	V388A	probably damaging	Het
L2hgdh	A	G	12: 69,768,175 (GRCm39)	S108P	probably damaging	Het
Msto1	G	A	3: 88,818,050 (GRCm39)	T388M	probably benign	Het
Naip1	T	C	13: 100,562,441 (GRCm39)	E908G	probably damaging	Het
Neto1	C	A	18: 86,491,814 (GRCm39)	D238E	possibly damaging	Het
Nlrp5	T	A	7: 23,117,159 (GRCm39)	D294E	probably benign	Het
Nr3c2	T	C	8: 77,635,816 (GRCm39)	S306P	probably damaging	Het
Or8b41	T	A	9: 38,055,167 (GRCm39)	C240*	probably null	Het
Pard3	T	A	8: 128,050,544 (GRCm39)	L202H	probably damaging	Het
Pdzd2	T	C	15: 12,458,293 (GRCm39)	N190S	probably damaging	Het
Pi4ka	T	C	16: 17,127,222 (GRCm39)	D1077G	probably benign	Het
Pmfbp1	A	C	8: 110,240,543 (GRCm39)	L208F	probably damaging	Het
Pms1	C	T	1: 53,246,130 (GRCm39)	D470N	probably benign	Het
Prdm10	T	C	9: 31,238,578 (GRCm39)	F108L	probably benign	Het
Rab11fip1	A	T	8: 27,644,804 (GRCm39)	M327K	possibly damaging	Het
Slc37a4	T	A	9: 44,311,261 (GRCm39)	L184Q	probably damaging	Het
Smdt1	T	C	15: 82,232,094 (GRCm39)		probably benign	Het
Smg6	A	G	11: 75,047,117 (GRCm39)	Y1270C	probably damaging	Het
Speer4f2	T	A	5: 17,581,565 (GRCm39)	V169E	possibly damaging	Het
Stpg2	C	T	3: 139,023,214 (GRCm39)	A410V	probably benign	Het
Tnrc6b	T	A	15: 80,764,164 (GRCm39)	D555E	probably benign	Het
Tsg101	A	G	7: 46,558,808 (GRCm39)	Y46H	probably damaging	Het
Vmn2r111	G	A	17: 22,767,553 (GRCm39)	S648L	probably benign	Het
Vmn2r73	T	A	7: 85,507,267 (GRCm39)	R682*	probably null	Het
Xkr5	A	T	8: 18,983,514 (GRCm39)	I676N	probably damaging	Het

Other mutations in Gjd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-03