Mutagenetix > Incidental Mutation

Incidental Mutation 'R9094:Gjb3'

691198

Institutional Source

Beutler Lab

Gene Symbol

Gjb3

Ensembl Gene

ENSMUSG00000042367

Gene Name

gap junction protein, beta 3

Synonyms

Gjb-3, D4Wsu144e, Cx31, connexin 31, Cnx31

MMRRC Submission

068909-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9094 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

127219028-127224633 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GCCAGATGCGCCCA to GCCAGATGCGCCCAGATGCGCCCA at 127220458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046532] [ENSMUST00000106091]

AlphaFold

P28231

Predicted Effect

probably null
Transcript: ENSMUST00000046532

SMART Domains

Protein: ENSMUSP00000046755
Gene: ENSMUSG00000042367

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
CNX	42	75	3.47e-19	SMART
low complexity region	98	103	N/A	INTRINSIC
Connexin_CCC	141	209	3.05e-33	SMART
low complexity region	219	237	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106091

SMART Domains

Protein: ENSMUSP00000101697
Gene: ENSMUSG00000042367

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
CNX	42	75	3.47e-19	SMART
low complexity region	98	103	N/A	INTRINSIC
Connexin_CCC	141	209	3.05e-33	SMART
low complexity region	219	237	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (67/70)

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 connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit partial lethality and transient placental dysmorphogenesis but no impairment in hearing or skin differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110021N24Rik	T	C	4: 108,637,744 (GRCm39)	V37A	unknown	Het
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Abi3bp	A	G	16: 56,456,590 (GRCm39)	I1021V	probably benign	Het
Agrn	C	A	4: 156,253,264 (GRCm39)	K1848N	probably benign	Het
Anln	A	G	9: 22,249,283 (GRCm39)	V1005A	probably benign	Het
Arb2a	A	G	13: 78,311,725 (GRCm39)	K356R	possibly damaging	Het
Arid3b	A	G	9: 57,741,327 (GRCm39)	Y40H	probably damaging	Het
Bco1	A	C	8: 117,859,917 (GRCm39)	D540A	probably benign	Het
Blnk	A	G	19: 40,982,482 (GRCm39)	I7T	probably benign	Het
Brca2	T	G	5: 150,475,770 (GRCm39)	D2493E	probably benign	Het
Bsn	T	A	9: 107,988,052 (GRCm39)	M2567L	unknown	Het
Cacna1e	T	A	1: 154,355,064 (GRCm39)	Y693F	possibly damaging	Het
Catsperg1	G	C	7: 28,884,152 (GRCm39)	T987R	probably damaging	Het
Cpa4	G	T	6: 30,574,393 (GRCm39)	D61Y	possibly damaging	Het
Cpne1	A	C	2: 155,921,080 (GRCm39)	V70G	probably damaging	Het
Dnase1l3	A	T	14: 7,987,306 (GRCm38)	N81K	probably damaging	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fbxo34	C	G	14: 47,767,928 (GRCm39)	H480Q	probably benign	Het
Frmd4b	T	C	6: 97,398,559 (GRCm39)	E96G		Het
Gdpgp1	T	A	7: 79,888,216 (GRCm39)	D82E	probably benign	Het
Grpel1	A	G	5: 36,626,823 (GRCm39)	N35S	probably benign	Het
Il12rb1	A	G	8: 71,273,291 (GRCm39)	T665A	possibly damaging	Het
Il16	T	C	7: 83,301,559 (GRCm39)	T886A	probably benign	Het
Insig1	T	A	5: 28,278,570 (GRCm39)	C128*	probably null	Het
Kcnk10	T	A	12: 98,484,775 (GRCm39)	E120D	probably benign	Het
Kctd1	T	C	18: 15,195,369 (GRCm39)	N418S	possibly damaging	Het
Kifbp	A	G	10: 62,395,037 (GRCm39)	V535A	probably damaging	Het
Klhl20	T	A	1: 160,933,055 (GRCm39)	H251L	probably damaging	Het
Ldlrad3	T	C	2: 101,888,326 (GRCm39)	D127G	probably damaging	Het
Lrp3	T	C	7: 34,903,182 (GRCm39)	Y388C	probably damaging	Het
Lrrc4	G	A	6: 28,830,206 (GRCm39)	R47W	possibly damaging	Het
Luzp1	A	T	4: 136,272,562 (GRCm39)	D1022V	probably damaging	Het
Mllt1	C	A	17: 57,212,737 (GRCm39)	R132L	probably damaging	Het
Ncoa1	G	T	12: 4,345,494 (GRCm39)	H618N	possibly damaging	Het
Nelfcd	T	C	2: 174,265,861 (GRCm39)	S318P	probably damaging	Het
Ngly1	A	C	14: 16,280,721 (GRCm38)	T301P	probably damaging	Het
Npy5r	G	A	8: 67,133,560 (GRCm39)	T411I	probably damaging	Het
Or55b10	T	C	7: 102,143,568 (GRCm39)	E138G	possibly damaging	Het
Or5d46	A	G	2: 88,170,248 (GRCm39)	N113S	probably benign	Het
Pcdha6	T	A	18: 37,101,593 (GRCm39)	I262N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pm20d1	C	A	1: 131,730,481 (GRCm39)	A245D	possibly damaging	Het
Rars1	T	C	11: 35,718,182 (GRCm39)		probably benign	Het
Rbms2	T	A	10: 127,987,107 (GRCm39)	I62F	probably damaging	Het
Rev3l	A	T	10: 39,700,809 (GRCm39)	T1769S	probably benign	Het
Rexo1	A	G	10: 80,378,854 (GRCm39)	Y1061H	probably damaging	Het
Rgs3	A	T	4: 62,500,240 (GRCm39)	I26F	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Rtkn	A	T	6: 83,128,018 (GRCm39)	N406Y	possibly damaging	Het
Rtn4r	A	T	16: 17,969,708 (GRCm39)	I379F	possibly damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Slmap	T	C	14: 26,137,355 (GRCm39)		probably benign	Het
Sorl1	A	T	9: 41,975,050 (GRCm39)	N519K	possibly damaging	Het
Srebf2	A	T	15: 82,056,975 (GRCm39)	I237F	possibly damaging	Het
Szt2	T	C	4: 118,242,651 (GRCm39)	S1479G	possibly damaging	Het
Tbc1d24	C	A	17: 24,400,274 (GRCm39)	E537*	probably null	Het
Ttf1	T	A	2: 28,957,080 (GRCm39)	I450K	probably benign	Het
Ube2e2	A	G	14: 18,893,288 (GRCm38)	S2P	unknown	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vmn2r25	C	T	6: 123,805,391 (GRCm39)	V489I	probably benign	Het
Wfdc8	C	T	2: 164,439,245 (GRCm39)	R379H	unknown	Het
Zeb2	C	T	2: 45,003,136 (GRCm39)		probably benign	Het
Zfp3	C	T	11: 70,663,241 (GRCm39)	T400I	probably benign	Het
Zfp760	T	C	17: 21,941,932 (GRCm39)	I369T	possibly damaging	Het

Other mutations in Gjb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Gjb3	APN	4	127,219,914 (GRCm39)	missense	probably damaging	0.99
IGL02398:Gjb3	APN	4	127,219,855 (GRCm39)	missense	probably benign	0.00
IGL02501:Gjb3	APN	4	127,220,157 (GRCm39)	missense	probably damaging	1.00
IGL02680:Gjb3	APN	4	127,219,815 (GRCm39)	missense	probably damaging	0.98
R0118:Gjb3	UTSW	4	127,220,451 (GRCm39)	missense	probably damaging	1.00
R0481:Gjb3	UTSW	4	127,220,125 (GRCm39)	missense	probably benign	0.00
R1142:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1250:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1279:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1280:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1281:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1282:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1322:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1324:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1325:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1341:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1382:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1799:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1834:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R1836:Gjb3	UTSW	4	127,220,224 (GRCm39)	missense	probably damaging	1.00
R4650:Gjb3	UTSW	4	127,220,484 (GRCm39)	missense	probably damaging	1.00
R5026:Gjb3	UTSW	4	127,220,280 (GRCm39)	missense	probably damaging	1.00
R6310:Gjb3	UTSW	4	127,220,433 (GRCm39)	missense	probably damaging	0.99
R6357:Gjb3	UTSW	4	127,220,423 (GRCm39)	nonsense	probably null
R9092:Gjb3	UTSW	4	127,220,471 (GRCm39)	frame shift	probably null
R9092:Gjb3	UTSW	4	127,220,458 (GRCm39)	frame shift	probably null
R9093:Gjb3	UTSW	4	127,220,458 (GRCm39)	frame shift	probably null
R9145:Gjb3	UTSW	4	127,220,140 (GRCm39)	missense	probably damaging	1.00
R9511:Gjb3	UTSW	4	127,220,131 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTGACGAAGATGAGCTGC -3'
(R):5'- TGGACTCTGACATGTGCACATAC -3'

Sequencing Primer
(F):5'- AAGATGAGCTGCAGGGCCC -3'
(R):5'- TGTGCACATACATGAACAATGAC -3'

Posted On

2021-12-30