Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4812001:Gjd3'

556924

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

Accession Numbers

Essential gene?

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

Stock #

PIT4812001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98873006-98873842 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 102691807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 65 (Y65*)

Ref Sequence

ENSEMBL: ENSMUSP00000066901 (fasta)

Gene Model

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

AlphaFold

Q91YD1

Predicted Effect

probably null
Transcript: ENSMUST00000068933
AA Change: Y65*

SMART Domains

Protein: ENSMUSP00000066901
Gene: ENSMUSG00000034520
AA Change: Y65*

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 null
Transcript: ENSMUST00000092567
AA Change: Y65*

SMART Domains

Protein: ENSMUSP00000090228
Gene: ENSMUSG00000034520
AA Change: Y65*

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 null
Transcript: ENSMUST00000107075
AA Change: Y65*

SMART Domains

Protein: ENSMUSP00000102690
Gene: ENSMUSG00000034520
AA Change: Y65*

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: 93.8%
3x: 91.0%
10x: 85.3%
20x: 73.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,630,053 (GRCm39)	S252P	possibly damaging	Het
4933409G03Rik	G	A	2: 68,419,292 (GRCm39)	V14I	probably benign	Het
Adgrf5	T	G	17: 43,761,260 (GRCm39)	V985G	probably damaging	Het
Ankrd44	A	T	1: 54,762,197 (GRCm39)	Y542*	probably null	Het
Atp13a3	T	C	16: 30,181,396 (GRCm39)	T75A	probably damaging	Het
Atr	T	C	9: 95,792,702 (GRCm39)	F1675L	probably benign	Het
Atrnl1	A	G	19: 57,720,055 (GRCm39)	I1082V	probably benign	Het
Clip1	T	A	5: 123,768,738 (GRCm39)	R620S	probably benign	Het
Cped1	T	C	6: 22,122,293 (GRCm39)	F391S	probably benign	Het
Cracr2a	T	C	6: 127,602,833 (GRCm39)	L230P	probably damaging	Het
Dctn1	T	A	6: 83,176,744 (GRCm39)	V1266E	possibly damaging	Het
Dlg1	T	A	16: 31,665,703 (GRCm39)	F687I	probably benign	Het
Dnah8	C	A	17: 30,927,419 (GRCm39)	D1358E	probably benign	Het
Dnajc11	A	G	4: 152,037,346 (GRCm39)	R84G	probably benign	Het
Dnajc14	C	A	10: 128,642,552 (GRCm39)	T158N	probably damaging	Het
Dscc1	A	G	15: 54,945,657 (GRCm39)	L346P	probably damaging	Het
Efcab3	A	G	11: 104,990,805 (GRCm39)	I71V	probably null	Het
Erbb3	T	A	10: 128,410,248 (GRCm39)	Q670L	possibly damaging	Het
Ercc4	G	A	16: 12,962,311 (GRCm39)	E652K	probably benign	Het
Ercc6l2	T	A	13: 64,006,071 (GRCm39)	V591D	possibly damaging	Het
Fam3c	C	T	6: 22,321,369 (GRCm39)	G134E	probably damaging	Het
Frmd5	A	G	2: 121,416,927 (GRCm39)	V70A	probably benign	Het
Gm3033	A	C	14: 3,848,891 (GRCm38)	L137F		Het
Gria4	C	A	9: 4,427,128 (GRCm39)	A771S	probably damaging	Het
Hc	A	G	2: 34,919,464 (GRCm39)	L674P	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hycc2	T	G	1: 58,587,862 (GRCm39)	D117A	possibly damaging	Het
Inpp5f	A	T	7: 128,294,032 (GRCm39)	Y696F	probably benign	Het
Itga11	C	A	9: 62,639,475 (GRCm39)	Q157K	probably damaging	Het
Itgb5	G	T	16: 33,740,357 (GRCm39)	C489F	probably damaging	Het
Klhl38	C	T	15: 58,185,938 (GRCm39)	G264S	probably benign	Het
Krt78	C	T	15: 101,856,504 (GRCm39)	V436M	probably damaging	Het
Mia2	A	T	12: 59,148,365 (GRCm39)	D75V	possibly damaging	Het
Mphosph6	T	A	8: 118,525,888 (GRCm39)	Q20L	probably damaging	Het
Ogfr	C	T	2: 180,237,304 (GRCm39)	P630S	possibly damaging	Het
Or2c1	A	T	16: 3,657,394 (GRCm39)	K186*	probably null	Het
Or4c11	G	A	2: 88,695,314 (GRCm39)	V122M	probably benign	Het
Or5an9	T	G	19: 12,187,617 (GRCm39)	I229S	probably damaging	Het
Pbx3	T	C	2: 34,114,631 (GRCm39)	E101G	probably damaging	Het
Pcca	T	A	14: 123,027,794 (GRCm39)	N587K	probably benign	Het
Pdia3	G	T	2: 121,264,011 (GRCm39)	A287S	probably damaging	Het
Pfas	T	A	11: 68,880,862 (GRCm39)	D209V		Het
Pramel29	A	G	4: 143,936,086 (GRCm39)	I56T	probably benign	Het
Pter	A	T	2: 12,985,179 (GRCm39)	I170F	probably damaging	Het
Ptprq	A	T	10: 107,502,428 (GRCm39)	V830E	probably damaging	Het
Rab11fip5	T	C	6: 85,318,540 (GRCm39)	D783G	probably benign	Het
Rbm19	T	C	5: 120,266,315 (GRCm39)	V446A	possibly damaging	Het
Selp	A	G	1: 163,959,832 (GRCm39)	N363D	probably benign	Het
Six2	C	A	17: 85,992,729 (GRCm39)	S258I	possibly damaging	Het
Smc1b	A	G	15: 84,953,852 (GRCm39)	V1139A	possibly damaging	Het
Sp1	A	G	15: 102,316,843 (GRCm39)	T121A	possibly damaging	Het
Sucla2	A	T	14: 73,816,889 (GRCm39)	I210L	possibly damaging	Het
Trank1	T	C	9: 111,176,980 (GRCm39)	L339P	probably damaging	Het
Ttll5	T	A	12: 85,973,635 (GRCm39)	D794E	probably benign	Het
Usp32	C	T	11: 84,900,900 (GRCm39)	V1107I	probably damaging	Het
Vmn1r195	T	C	13: 22,463,033 (GRCm39)	Y168H	probably benign	Het
Vmn1r223	A	G	13: 23,434,060 (GRCm39)	N218S	probably damaging	Het
Vmn2r25	T	A	6: 123,800,447 (GRCm39)	S632C	probably damaging	Het
Vwa3a	A	T	7: 120,375,356 (GRCm39)	K390I	probably damaging	Het
Zfp442	A	T	2: 150,251,661 (GRCm39)	C80*	probably null	Het
Zic1	A	T	9: 91,246,394 (GRCm39)	I226N	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
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

Predicted Primers

PCR Primer
(F):5'- AACGCATGGCATAGGGTTTG -3'
(R):5'- GGTACTTTTCACCTACCAGGGC -3'

Sequencing Primer
(F):5'- CATAGGGTTTGCTCCGAGC -3'
(R):5'- CATGAGTTGGAGCTTCCTGACTC -3'

Posted On

2019-06-07