Mutagenetix > Incidental Mutation

Incidental Mutation 'R0481:Gjb3'

43352

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

038681-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127219028-127224633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127220125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 136 (I136F)

Ref Sequence

ENSEMBL: ENSMUSP00000101697 (fasta)

Gene Model

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

AlphaFold

P28231

Predicted Effect

probably benign
Transcript: ENSMUST00000046532
AA Change: I136F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046755
Gene: ENSMUSG00000042367
AA Change: I136F

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 benign
Transcript: ENSMUST00000106091
AA Change: I136F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101697
Gene: ENSMUSG00000042367
AA Change: I136F

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

Meta Mutation Damage Score

0.0624

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

95% (89/94)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,190,666 (GRCm39)	N39Y	probably benign	Het
Adamts10	C	T	17: 33,768,347 (GRCm39)	Q840*	probably null	Het
Aff2	C	T	X: 68,878,248 (GRCm39)	T678I	probably damaging	Het
Ahctf1	A	G	1: 179,587,836 (GRCm39)	V1418A	probably benign	Het
Ankrd11	G	A	8: 123,626,775 (GRCm39)	R136C	probably damaging	Het
Arf5	A	G	6: 28,426,075 (GRCm39)	Y154C	probably damaging	Het
AW551984	A	G	9: 39,511,912 (GRCm39)	V33A	probably null	Het
B4galt5	A	G	2: 167,151,154 (GRCm39)	L118P	probably damaging	Het
Bcl9l	A	G	9: 44,417,979 (GRCm39)	I606V	probably benign	Het
Bdp1	A	G	13: 100,177,962 (GRCm39)	I1969T	probably benign	Het
Bicd1	A	T	6: 149,413,389 (GRCm39)	D260V	possibly damaging	Het
Cap1	A	T	4: 122,756,868 (GRCm39)	H272Q	possibly damaging	Het
Ccnk	A	G	12: 108,165,568 (GRCm39)		probably benign	Het
Cd209f	A	T	8: 4,155,558 (GRCm39)		probably null	Het
Cdk13	C	A	13: 17,894,079 (GRCm39)	A1123S	probably damaging	Het
Cdx1	C	T	18: 61,153,564 (GRCm39)	R158H	probably damaging	Het
Chd8	A	G	14: 52,474,663 (GRCm39)	S123P	probably benign	Het
Cwc22	G	A	2: 77,738,455 (GRCm39)	A497V	probably damaging	Het
Cwh43	T	C	5: 73,575,370 (GRCm39)	S296P	probably damaging	Het
Dhx38	A	T	8: 110,282,848 (GRCm39)		probably benign	Het
Dnah5	T	A	15: 28,383,745 (GRCm39)	M2989K	probably benign	Het
Dpy19l4	A	C	4: 11,272,993 (GRCm39)		probably benign	Het
F11r	A	T	1: 171,288,847 (GRCm39)	H155L	probably benign	Het
Fcgbpl1	A	T	7: 27,853,174 (GRCm39)	D1487V	probably damaging	Het
Fitm2	A	G	2: 163,311,634 (GRCm39)	V193A	probably benign	Het
Foxk1	T	A	5: 142,434,578 (GRCm39)	S281T	probably benign	Het
Furin	A	G	7: 80,043,297 (GRCm39)	C305R	probably damaging	Het
Fut8	T	A	12: 77,495,334 (GRCm39)	V308D	probably damaging	Het
Glmn	A	T	5: 107,708,800 (GRCm39)	S385T	probably benign	Het
Glp1r	T	A	17: 31,150,191 (GRCm39)	M371K	probably benign	Het
Gpr179	T	C	11: 97,240,544 (GRCm39)	H293R	probably damaging	Het
H2-M11	A	T	17: 36,859,846 (GRCm39)	R280*	probably null	Het
Hadhb	T	A	5: 30,373,543 (GRCm39)	H78Q	probably damaging	Het
Hectd4	A	G	5: 121,433,569 (GRCm39)		probably benign	Het
Hexa	A	G	9: 59,462,693 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Hyal6	G	A	6: 24,743,417 (GRCm39)	C371Y	probably damaging	Het
Il1rap	T	C	16: 26,511,585 (GRCm39)	Y210H	probably damaging	Het
Ino80	A	T	2: 119,261,497 (GRCm39)	H722Q	probably damaging	Het
Kcnt1	A	G	2: 25,782,508 (GRCm39)	N200S	probably damaging	Het
Kif27	T	A	13: 58,459,078 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,852,537 (GRCm39)	V2179A	probably benign	Het
Macf1	C	A	4: 123,377,815 (GRCm39)		probably null	Het
Mamdc4	A	G	2: 25,461,228 (GRCm39)	M1T	probably null	Het
Mansc4	A	G	6: 146,976,725 (GRCm39)	I297T	possibly damaging	Het
Mdn1	G	A	4: 32,767,182 (GRCm39)		probably benign	Het
Mib2	A	G	4: 155,740,519 (GRCm39)		probably benign	Het
Mon2	A	G	10: 122,849,301 (GRCm39)	V1333A	possibly damaging	Het
Ndst2	T	C	14: 20,774,536 (GRCm39)	D840G	possibly damaging	Het
Nell2	A	T	15: 95,330,563 (GRCm39)		probably null	Het
Or4c102	A	T	2: 88,422,999 (GRCm39)	I284F	probably damaging	Het
Or4k51	T	A	2: 111,584,930 (GRCm39)	M112K	probably damaging	Het
Or5g29	C	A	2: 85,421,448 (GRCm39)	A188E	possibly damaging	Het
Pde5a	C	T	3: 122,611,726 (GRCm39)		probably benign	Het
Phip	A	G	9: 82,758,769 (GRCm39)		probably benign	Het
Polr2b	A	G	5: 77,479,929 (GRCm39)	I561V	possibly damaging	Het
Ppp4r3c2	T	C	X: 88,796,299 (GRCm39)	S44P	probably damaging	Het
Prkg2	A	T	5: 99,142,514 (GRCm39)		probably null	Het
Prl8a6	T	C	13: 27,617,084 (GRCm39)	D201G	probably benign	Het
Ptk6	G	A	2: 180,844,320 (GRCm39)		probably benign	Het
Ptprn2	T	C	12: 117,175,466 (GRCm39)		probably benign	Het
Rdh1	G	T	10: 127,598,993 (GRCm39)	R158L	probably damaging	Het
Rhbdl3	T	C	11: 80,214,175 (GRCm39)		probably benign	Het
Rims4	A	T	2: 163,706,040 (GRCm39)	V198E	probably damaging	Het
Ripk1	T	C	13: 34,193,733 (GRCm39)	S32P	probably damaging	Het
Rnf13	T	A	3: 57,686,872 (GRCm39)	N88K	probably damaging	Het
Rnf13	C	A	3: 57,714,474 (GRCm39)	L178I	probably damaging	Het
Slc17a5	G	T	9: 78,445,584 (GRCm39)		probably null	Het
Sorcs1	A	G	19: 50,624,891 (GRCm39)		probably benign	Het
Spata31e3	T	A	13: 50,401,000 (GRCm39)	Q442L	probably benign	Het
Srpk1	G	A	17: 28,809,218 (GRCm39)		probably benign	Het
Stk10	A	G	11: 32,564,708 (GRCm39)	K840E	probably damaging	Het
Suco	A	G	1: 161,689,882 (GRCm39)		probably benign	Het
T2	G	A	17: 8,636,007 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,226,079 (GRCm39)	S255P	probably damaging	Het
Tenm1	T	C	X: 41,625,058 (GRCm39)	Y2254C	probably damaging	Het
Tex9	T	A	9: 72,385,678 (GRCm39)	K11*	probably null	Het
Tlr4	A	G	4: 66,746,153 (GRCm39)	I29V	probably benign	Het
Tmem255a	A	T	X: 37,288,523 (GRCm39)	V278D	probably damaging	Het
Trpc3	T	C	3: 36,678,566 (GRCm39)	I840V	probably benign	Het
Trpm3	G	A	19: 22,878,435 (GRCm39)	R622Q	possibly damaging	Het
Vmn1r214	T	A	13: 23,219,464 (GRCm39)	Y319*	probably null	Het
Vmn1r53	A	T	6: 90,200,700 (GRCm39)	V208E	probably damaging	Het
Vmn2r89	T	C	14: 51,693,577 (GRCm39)	F309S	probably damaging	Het
Xirp2	T	A	2: 67,340,253 (GRCm39)	F831L	possibly damaging	Het
Yes1	G	T	5: 32,797,749 (GRCm39)	E23*	probably null	Het
Zfp292	A	T	4: 34,810,059 (GRCm39)	M995K	probably benign	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
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
R9094: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'- ATGCCTCGCATGATCCTGTGGAAG -3'
(R):5'- GGCTGTACCAACGTGTGCTATGAC -3'

Sequencing Primer
(F):5'- TAGCAGATCTCACAGATGGTG -3'
(R):5'- CAACGTGTGCTATGACAACTTC -3'

Posted On

2013-05-23