Mutagenetix > Incidental Mutation

Incidental Mutation 'R5955:Gjb4'

471098

Institutional Source

Beutler Lab

Gene Symbol

Gjb4

Ensembl Gene

ENSMUSG00000046623

Gene Name

gap junction protein, beta 4

Synonyms

connexin 30.3, Cx30.3, Gjb-4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5955 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127244879-127247874 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 127245745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 65 (Y65*)

Ref Sequence

ENSEMBL: ENSMUSP00000101696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046498] [ENSMUST00000060419] [ENSMUST00000106090]

AlphaFold

Q02738

Predicted Effect

probably benign
Transcript: ENSMUST00000046498

SMART Domains

Protein: ENSMUSP00000045325
Gene: ENSMUSG00000042357

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
CNX	42	75	1.99e-19	SMART
Connexin_CCC	139	206	1.42e-33	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000060419
AA Change: Y65*

SMART Domains

Protein: ENSMUSP00000053307
Gene: ENSMUSG00000046623
AA Change: Y65*

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
CNX	42	75	9.16e-19	SMART
low complexity region	98	103	N/A	INTRINSIC
Connexin_CCC	141	208	6.28e-35	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000106090
AA Change: Y65*

SMART Domains

Protein: ENSMUSP00000101696
Gene: ENSMUSG00000046623
AA Change: Y65*

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
CNX	42	75	9.16e-19	SMART
low complexity region	98	103	N/A	INTRINSIC
Connexin_CCC	141	208	6.28e-35	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a reporter allele display reduced behavioral responses to a vanilla scent, suggesting impaired olfaction. [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
Abcc2	A	T	19: 43,801,629 (GRCm39)	D632V	probably damaging	Het
Acbd6	C	T	1: 155,463,205 (GRCm39)	A135V	probably benign	Het
Adam26a	A	T	8: 44,022,889 (GRCm39)	F200L	probably benign	Het
Ago3	A	T	4: 126,248,843 (GRCm39)	N569K	probably damaging	Het
Ak9	A	T	10: 41,234,560 (GRCm39)	L640F	probably damaging	Het
Ampd2	A	G	3: 107,987,088 (GRCm39)	V178A	probably damaging	Het
Anapc4	C	G	5: 53,023,288 (GRCm39)	H710D	probably benign	Het
Atad2	T	C	15: 57,969,055 (GRCm39)	I495V	probably benign	Het
Bhmt2	T	C	13: 93,799,705 (GRCm39)	T244A	probably benign	Het
Capg	T	C	6: 72,532,483 (GRCm39)	V16A	probably benign	Het
Capn13	A	G	17: 73,637,997 (GRCm39)	F469L	possibly damaging	Het
Ccdc149	C	T	5: 52,533,877 (GRCm39)	V430I	probably benign	Het
Cma1	A	C	14: 56,181,226 (GRCm39)	Y47D	probably benign	Het
Col6a3	A	T	1: 90,739,163 (GRCm39)	L355Q	probably damaging	Het
Cripto	C	A	9: 110,773,281 (GRCm39)	R18L	unknown	Het
Crocc	G	T	4: 140,745,229 (GRCm39)	T1796K	possibly damaging	Het
Cyp2c50	A	T	19: 40,079,387 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,378,934 (GRCm39)	I1294T	possibly damaging	Het
Erbin	A	T	13: 103,966,700 (GRCm39)	F1250Y	probably benign	Het
Fbn1	A	C	2: 125,200,802 (GRCm39)	C1298W	probably damaging	Het
Fbn2	A	C	18: 58,177,328 (GRCm39)	F1990V	probably damaging	Het
Fez2	A	T	17: 78,694,472 (GRCm39)	V306D	probably damaging	Het
Gigyf1	G	A	5: 137,521,769 (GRCm39)		probably null	Het
Gm26661	G	A	14: 7,791,776 (GRCm38)	A64T	unknown	Het
Igkv1-135	T	C	6: 67,587,263 (GRCm39)	S45P	possibly damaging	Het
Il27	T	C	7: 126,194,070 (GRCm39)	T5A	probably benign	Het
Il27ra	T	C	8: 84,767,451 (GRCm39)	D124G	probably benign	Het
Itgad	A	G	7: 127,788,653 (GRCm39)	H424R	probably benign	Het
Itgal	T	C	7: 126,904,161 (GRCm39)	V258A	possibly damaging	Het
Kpna4	A	G	3: 68,997,134 (GRCm39)	V351A	probably benign	Het
Lama5	T	C	2: 179,839,267 (GRCm39)	Q747R	probably damaging	Het
Map4k5	A	G	12: 69,891,164 (GRCm39)	F168L	probably damaging	Het
Mecom	A	G	3: 30,015,195 (GRCm39)	Y843H	probably damaging	Het
Mical3	T	C	6: 121,010,711 (GRCm39)	M424V	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Myb	A	G	10: 21,028,398 (GRCm39)	I155T	probably damaging	Het
Nbea	A	T	3: 55,588,404 (GRCm39)	V2445E	probably benign	Het
Nlrp1b	A	T	11: 71,108,691 (GRCm39)	I270N	probably damaging	Het
Nlrp4f	A	T	13: 65,342,895 (GRCm39)	M250K	probably benign	Het
Or13c7	T	A	4: 43,854,898 (GRCm39)	N196K	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or52w1	C	T	7: 105,017,776 (GRCm39)	A72V	probably damaging	Het
P4ha1	A	G	10: 59,178,618 (GRCm39)	S96G	probably benign	Het
Pcnt	G	T	10: 76,247,456 (GRCm39)	N1025K	possibly damaging	Het
Pgap4	T	C	4: 49,586,613 (GRCm39)	E185G	probably damaging	Het
Phactr4	A	G	4: 132,114,220 (GRCm39)	F58S	probably damaging	Het
Phlpp1	T	A	1: 106,291,960 (GRCm39)		probably null	Het
Rab40c	A	C	17: 26,103,631 (GRCm39)	V144G	probably damaging	Het
Rnasel	A	G	1: 153,630,146 (GRCm39)	I221V	probably benign	Het
Rps6kb1	T	C	11: 86,404,431 (GRCm39)	K241E	probably damaging	Het
Rrbp1	C	G	2: 143,791,597 (GRCm39)	E1370Q	probably benign	Het
Rttn	T	C	18: 89,139,133 (GRCm39)	Y2111H	probably damaging	Het
Samd8	A	G	14: 21,843,152 (GRCm39)	H364R	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Setdb1	A	G	3: 95,246,153 (GRCm39)	Y590H	probably damaging	Het
Shkbp1	T	C	7: 27,041,949 (GRCm39)	N635S	probably benign	Het
Trpm6	A	G	19: 18,869,383 (GRCm39)	D1990G	possibly damaging	Het
Usp48	A	G	4: 137,343,129 (GRCm39)	N426S	probably benign	Het
Vmn2r16	G	A	5: 109,511,613 (GRCm39)	V607M	possibly damaging	Het
Xdh	A	T	17: 74,205,315 (GRCm39)	V1050D	probably damaging	Het
Zfp110	C	T	7: 12,582,672 (GRCm39)	T440I	possibly damaging	Het

Other mutations in Gjb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Gjb4	APN	4	127,245,146 (GRCm39)	missense	probably benign	0.00
IGL01629:Gjb4	APN	4	127,245,419 (GRCm39)	missense	possibly damaging	0.96
IGL03075:Gjb4	APN	4	127,245,386 (GRCm39)	missense	possibly damaging	0.92
K3955:Gjb4	UTSW	4	127,245,293 (GRCm39)	missense	probably benign	0.06
P0038:Gjb4	UTSW	4	127,245,293 (GRCm39)	missense	probably benign	0.06
R1710:Gjb4	UTSW	4	127,245,663 (GRCm39)	missense	possibly damaging	0.62
R3824:Gjb4	UTSW	4	127,245,222 (GRCm39)	missense	probably benign	0.00
R4664:Gjb4	UTSW	4	127,245,571 (GRCm39)	missense	probably damaging	1.00
R4666:Gjb4	UTSW	4	127,245,571 (GRCm39)	missense	probably damaging	1.00
R9626:Gjb4	UTSW	4	127,246,081 (GRCm39)	start gained	probably benign
Z1177:Gjb4	UTSW	4	127,245,920 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- CAGCAGCCTTGAAGATGAGAC -3'
(R):5'- GGAATCCTGAGTGGTGTGAAC -3'

Sequencing Primer
(F):5'- TGAGACTCAGCAGGTATGTCCAC -3'
(R):5'- CCTGAGTGGTGTGAACAAGTACTCC -3'

Posted On

2017-03-31