Mutagenetix > Incidental Mutation

Incidental Mutation 'R4154:Gjd4'

315063

Institutional Source

Beutler Lab

Gene Symbol

Gjd4

Ensembl Gene

ENSMUSG00000036855

Gene Name

gap junction protein, delta 4

Synonyms

connexin 39, Cx39, 9430022F06Rik

MMRRC Submission

040998-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4154 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9278607-9282809 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 9280811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 89 (S89*)

Ref Sequence

ENSEMBL: ENSMUSP00000035472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041007]

AlphaFold

Q8BSD4

Predicted Effect

probably null
Transcript: ENSMUST00000041007
AA Change: S89*

SMART Domains

Protein: ENSMUSP00000035472
Gene: ENSMUSG00000036855
AA Change: S89*

Domain	Start	End	E-Value	Type
low complexity region	26	39	N/A	INTRINSIC
CNX	43	76	4.18e-13	SMART
Connexin_CCC	131	197	1.23e-28	SMART
low complexity region	237	251	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accelerated muscle regeneration following BaCl2 injection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI593442	A	T	9: 52,589,204 (GRCm39)	H124Q	probably benign	Het
Asph	C	T	4: 9,639,250 (GRCm39)	W38*	probably null	Het
Bicdl2	A	G	17: 23,885,066 (GRCm39)		probably null	Het
Chd8	T	C	14: 52,444,668 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,297,833 (GRCm39)	N67D	probably benign	Het
Cptp	A	G	4: 155,951,657 (GRCm39)	V12A	possibly damaging	Het
Crim1	A	G	17: 78,545,272 (GRCm39)	I145V	probably benign	Het
Ctsc	G	A	7: 87,948,755 (GRCm39)	M195I	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Fas	T	G	19: 34,296,228 (GRCm39)	I180S	possibly damaging	Het
Fsip2	A	C	2: 82,817,413 (GRCm39)	E4382A	possibly damaging	Het
Galnt5	T	G	2: 57,888,505 (GRCm39)	L35R	probably damaging	Het
Gfpt2	G	A	11: 49,726,605 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,636,872 (GRCm39)	H110L	probably benign	Het
Golm1	A	G	13: 59,790,167 (GRCm39)	V211A	probably benign	Het
Gsc2	TGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAG	16: 17,732,666 (GRCm39)		probably benign	Het
Ighv1-72	A	T	12: 115,722,017 (GRCm39)	M7K	probably benign	Het
Igkv12-44	C	T	6: 69,791,639 (GRCm39)	C108Y	possibly damaging	Het
Lum	T	C	10: 97,404,815 (GRCm39)	S237P	probably damaging	Het
Macf1	T	C	4: 123,365,606 (GRCm39)	K3052E	probably damaging	Het
Mdn1	A	G	4: 32,707,475 (GRCm39)	E1588G	probably damaging	Het
Ndst3	T	C	3: 123,465,876 (GRCm39)	Y32C	probably damaging	Het
Nucb2	A	G	7: 116,126,902 (GRCm39)	T172A	probably benign	Het
Or52b1	T	C	7: 104,978,592 (GRCm39)	N269S	probably damaging	Het
Pard3	G	T	8: 128,200,877 (GRCm39)	R978L	probably damaging	Het
Pcdha4	A	G	18: 37,086,639 (GRCm39)		probably null	Het
Pgk2	A	G	17: 40,519,149 (GRCm39)	V93A	probably damaging	Het
Pik3c3	G	A	18: 30,444,336 (GRCm39)	M516I	probably benign	Het
Plxnb2	A	G	15: 89,043,845 (GRCm39)	F1336L	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	G	C	12: 82,471,988 (GRCm39)	G1323R	possibly damaging	Het
Sntg1	A	T	1: 8,653,569 (GRCm39)		probably null	Het
Spef2	T	C	15: 9,626,107 (GRCm39)	K1153R	probably benign	Het
Strn3	C	T	12: 51,673,914 (GRCm39)	V566M	probably damaging	Het
Svep1	A	G	4: 58,069,068 (GRCm39)	F2906S	possibly damaging	Het
Tbc1d8	C	T	1: 39,425,216 (GRCm39)	V545M	probably damaging	Het
Tmem131	T	C	1: 36,847,874 (GRCm39)		probably benign	Het
Tnfsf8	A	G	4: 63,752,595 (GRCm39)	S157P	probably benign	Het
Tubgcp5	G	A	7: 55,455,077 (GRCm39)	V258M	probably benign	Het
Vat1l	G	C	8: 114,932,543 (GRCm39)	G30R	possibly damaging	Het
Vegfb	T	C	19: 6,963,446 (GRCm39)	Y106C	probably damaging	Het
Vmn2r100	AAAACAGGAGTATTGATTGGAAAC	AAAAC	17: 19,743,681 (GRCm39)		probably null	Het
Zc3h15	T	C	2: 83,488,913 (GRCm39)	V161A	probably benign	Het

Other mutations in Gjd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0046:Gjd4	UTSW	18	9,280,998 (GRCm39)	missense	probably damaging	0.98
R0046:Gjd4	UTSW	18	9,280,998 (GRCm39)	missense	probably damaging	0.98
R0157:Gjd4	UTSW	18	9,280,549 (GRCm39)	missense	probably benign	0.00
R0348:Gjd4	UTSW	18	9,280,964 (GRCm39)	missense	possibly damaging	0.77
R0538:Gjd4	UTSW	18	9,280,244 (GRCm39)	missense	probably benign	0.00
R1536:Gjd4	UTSW	18	9,280,569 (GRCm39)	missense	probably damaging	1.00
R2423:Gjd4	UTSW	18	9,280,811 (GRCm39)	nonsense	probably null
R2425:Gjd4	UTSW	18	9,280,811 (GRCm39)	nonsense	probably null
R3031:Gjd4	UTSW	18	9,280,811 (GRCm39)	nonsense	probably null
R3508:Gjd4	UTSW	18	9,280,811 (GRCm39)	nonsense	probably null
R4675:Gjd4	UTSW	18	9,280,578 (GRCm39)	missense	probably damaging	1.00
R5255:Gjd4	UTSW	18	9,280,613 (GRCm39)	missense	probably benign	0.00
R6452:Gjd4	UTSW	18	9,280,457 (GRCm39)	missense	possibly damaging	0.91
R7002:Gjd4	UTSW	18	9,280,960 (GRCm39)	missense	possibly damaging	0.88
R7077:Gjd4	UTSW	18	9,280,928 (GRCm39)	missense	probably damaging	1.00
R7232:Gjd4	UTSW	18	9,280,380 (GRCm39)	missense	probably damaging	1.00
R7250:Gjd4	UTSW	18	9,280,391 (GRCm39)	missense	probably benign	0.03
R7355:Gjd4	UTSW	18	9,280,860 (GRCm39)	missense	probably damaging	1.00
R8398:Gjd4	UTSW	18	9,280,326 (GRCm39)	missense	possibly damaging	0.51
R9147:Gjd4	UTSW	18	9,280,095 (GRCm39)	missense	probably benign	0.01
R9148:Gjd4	UTSW	18	9,280,095 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTACATGCGAGCAAGACACG -3'
(R):5'- CTGTCCTAGGCATGATCTGG -3'

Sequencing Primer
(F):5'- GAGCAAGACACGCGGGC -3'
(R):5'- ATCTGGCTGATCGTGGAGGTC -3'

Posted On

2015-05-14