Mutagenetix > Incidental Mutation

Incidental Mutation 'R6939:Gjd3'

540452

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

045053-MU

Accession Numbers

Essential gene?

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

Stock #

R6939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98873006-98873842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102691733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 90 (M90R)

Ref Sequence

ENSEMBL: ENSMUSP00000102690 (fasta)

Gene Model

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

AlphaFold

Q91YD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000068933
AA Change: M90R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066901
Gene: ENSMUSG00000034520
AA Change: M90R

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 damaging
Transcript: ENSMUST00000092567
AA Change: M90R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090228
Gene: ENSMUSG00000034520
AA Change: M90R

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 damaging
Transcript: ENSMUST00000107075
AA Change: M90R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102690
Gene: ENSMUSG00000034520
AA Change: M90R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	G	A	15: 60,792,244 (GRCm39)	P128L	probably damaging	Het
Acsm3	T	C	7: 119,377,678 (GRCm39)	V401A	probably damaging	Het
Arhgef11	C	A	3: 87,594,227 (GRCm39)	N93K	probably damaging	Het
C1ra	G	A	6: 124,489,760 (GRCm39)		probably null	Het
Camk2a	A	G	18: 61,091,226 (GRCm39)	E236G	probably damaging	Het
Cav2	C	A	6: 17,281,410 (GRCm39)	D17E	possibly damaging	Het
Ccdc149	T	C	5: 52,533,607 (GRCm39)	S520G	probably benign	Het
Chd4	C	A	6: 125,083,501 (GRCm39)	H674Q	probably damaging	Het
Clrn2	A	T	5: 45,611,096 (GRCm39)		probably benign	Het
Cntnap1	A	C	11: 101,077,337 (GRCm39)	I1000L	probably damaging	Het
Cyp2c67	T	C	19: 39,631,778 (GRCm39)	T140A	possibly damaging	Het
D7Ertd443e	T	C	7: 133,966,208 (GRCm39)		probably null	Het
Dcdc2c	G	T	12: 28,591,496 (GRCm39)	Q131K	probably benign	Het
Dmpk	T	A	7: 18,822,149 (GRCm39)	V369E	probably damaging	Het
Dnah11	A	T	12: 118,070,297 (GRCm39)	W1503R	probably damaging	Het
Dnai7	A	G	6: 145,120,945 (GRCm39)	F625L	possibly damaging	Het
Dok2	T	C	14: 71,013,045 (GRCm39)	V71A	probably benign	Het
Dqx1	A	T	6: 83,036,446 (GRCm39)	Q150L	probably damaging	Het
Extl3	A	G	14: 65,304,189 (GRCm39)	I740T	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat2	C	T	11: 55,143,300 (GRCm39)	W4183*	probably null	Het
Fkrp	C	T	7: 16,545,751 (GRCm39)	R37Q	probably benign	Het
Frem3	A	G	8: 81,341,774 (GRCm39)	K1356E	probably benign	Het
Fus	A	T	7: 127,571,741 (GRCm39)		probably benign	Het
Gabarapl2	C	A	8: 112,669,201 (GRCm39)	S53*	probably null	Het
Gm30083	C	T	14: 33,725,557 (GRCm39)		probably null	Het
Gm7356	T	A	17: 14,221,387 (GRCm39)	Y214F	probably benign	Het
Hexd	A	T	11: 121,113,164 (GRCm39)	D533V	probably benign	Het
Ift172	G	A	5: 31,414,930 (GRCm39)	A1364V	probably damaging	Het
Ighmbp2	A	T	19: 3,326,907 (GRCm39)	F186Y	probably damaging	Het
Inpp5e	C	A	2: 26,297,774 (GRCm39)		probably null	Het
Iqcb1	A	G	16: 36,660,274 (GRCm39)	T146A	possibly damaging	Het
Kcnmb2	A	G	3: 32,252,465 (GRCm39)	Y222C	probably damaging	Het
Kdm6b	A	G	11: 69,297,588 (GRCm39)	W284R	probably damaging	Het
Khdc4	T	A	3: 88,593,824 (GRCm39)	M71K	probably damaging	Het
Ksr2	T	A	5: 117,903,626 (GRCm39)	*952R	probably null	Het
Ldlrap1	C	A	4: 134,495,285 (GRCm39)		probably benign	Het
Mpdu1	G	A	11: 69,548,881 (GRCm39)		probably benign	Het
Mrgprh	A	T	17: 13,095,822 (GRCm39)	T21S	probably benign	Het
Muc16	T	A	9: 18,549,833 (GRCm39)	T5487S	probably benign	Het
Mydgf	A	G	17: 56,490,737 (GRCm39)		probably null	Het
Napa	T	C	7: 15,849,182 (GRCm39)	C241R	possibly damaging	Het
Or10ab4	C	A	7: 107,654,312 (GRCm39)	A41E	possibly damaging	Het
Or10n7-ps1	T	C	9: 39,598,187 (GRCm39)	T18A	possibly damaging	Het
Or5k17	A	T	16: 58,746,648 (GRCm39)	Y95*	probably null	Het
Pla2g4f	A	T	2: 120,137,782 (GRCm39)	L326Q	probably damaging	Het
Pramel16	T	C	4: 143,675,366 (GRCm39)	T487A	probably benign	Het
Psme4	T	A	11: 30,787,291 (GRCm39)	Y1029N	probably damaging	Het
Ptprj	T	C	2: 90,289,858 (GRCm39)	T707A	possibly damaging	Het
Raet1e	T	A	10: 22,050,256 (GRCm39)	M13K	possibly damaging	Het
Rftn2	T	C	1: 55,233,508 (GRCm39)		probably null	Het
Rmi1	A	G	13: 58,557,169 (GRCm39)	I473V	probably benign	Het
Rps6ka4	A	G	19: 6,815,437 (GRCm39)	F186L	probably damaging	Het
Ryr1	T	A	7: 28,751,751 (GRCm39)	M3672L	possibly damaging	Het
Smarca5	A	T	8: 81,431,949 (GRCm39)	C890S	possibly damaging	Het
Spata31d1e	T	A	13: 59,889,872 (GRCm39)	K231N	possibly damaging	Het
Tdrd12	C	T	7: 35,185,024 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,259,293 (GRCm39)	N1530S	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmem94	A	G	11: 115,676,656 (GRCm39)	S54G	possibly damaging	Het
Tnk2	T	C	16: 32,482,696 (GRCm39)	V41A	probably damaging	Het
Trpm1	A	G	7: 63,918,045 (GRCm39)	T462A	probably benign	Het
Tsg101	T	C	7: 46,556,847 (GRCm39)	T61A	probably benign	Het
Usp42	T	C	5: 143,713,724 (GRCm39)	N17D	probably damaging	Het
Zfp607a	T	A	7: 27,578,473 (GRCm39)	C514*	probably null	Het
Zfp866	G	T	8: 70,218,871 (GRCm39)	Q250K	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCGTCGGCCATCATGCTTAG -3'
(R):5'- TTGTCCTAACTGCTGTAGGAGGAG -3'

Sequencing Primer
(F):5'- CGGCCATCATGCTTAGGTTTTG -3'
(R):5'- GGAGAGTCCATCTACTATGATGAAC -3'

Posted On

2018-11-06