Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02398:Gjb3'

291761

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gjb3

Ensembl Gene

ENSMUSG00000042367

Gene Name

gap junction protein, beta 3

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02398

Quality Score

Status

Chromosome

Chromosomal Location

127219028-127224633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127219855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 226 (S226C)

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: S226C

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

SMART Domains

Protein: ENSMUSP00000046755
Gene: ENSMUSG00000042367
AA Change: S226C

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: S226C

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

SMART Domains

Protein: ENSMUSP00000101697
Gene: ENSMUSG00000042367
AA Change: S226C

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

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 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,709,824 (GRCm39)	C160*	probably null	Het
Alkbh8	C	T	9: 3,345,870 (GRCm39)	P197S	possibly damaging	Het
Ankef1	A	C	2: 136,397,702 (GRCm39)	N761T	probably damaging	Het
Ankrd7	A	G	6: 18,866,696 (GRCm39)	Y72C	probably damaging	Het
Cfap36	T	G	11: 29,172,833 (GRCm39)	M231L	probably benign	Het
Cog7	A	G	7: 121,563,432 (GRCm39)	C227R	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cspg4	A	T	9: 56,793,970 (GRCm39)	E568D	probably benign	Het
Cwc27	G	A	13: 104,940,762 (GRCm39)	T199I	possibly damaging	Het
Cyp26a1	A	G	19: 37,688,467 (GRCm39)	I330V	probably benign	Het
Dcaf7	T	C	11: 105,944,579 (GRCm39)	V254A	probably benign	Het
Dhrs7	G	A	12: 72,711,466 (GRCm39)	R24C	probably damaging	Het
Ehmt2	T	A	17: 35,127,455 (GRCm39)	C838S	probably damaging	Het
Fn1	A	T	1: 71,657,829 (GRCm39)		probably null	Het
Gm14496	A	G	2: 181,637,963 (GRCm39)	I346V	probably benign	Het
Gm8050	T	C	14: 17,930,894 (GRCm39)	E172G	probably damaging	Het
Higd1a	G	A	9: 121,681,590 (GRCm39)	R22W	probably damaging	Het
Hmcn1	A	G	1: 150,678,648 (GRCm39)	L491S	possibly damaging	Het
Igsf9b	T	C	9: 27,244,426 (GRCm39)	S794P	possibly damaging	Het
Irgm2	A	T	11: 58,110,755 (GRCm39)	I161F	probably damaging	Het
Lrp8	G	T	4: 107,704,691 (GRCm39)	V304F	probably damaging	Het
Lrp8	C	A	4: 107,726,245 (GRCm39)	S850R	probably damaging	Het
Lrrc9	A	T	12: 72,513,677 (GRCm39)	M513L	probably benign	Het
Myo18b	A	T	5: 112,978,178 (GRCm39)	V1248E	possibly damaging	Het
Myo1b	A	T	1: 51,797,050 (GRCm39)	N945K	probably damaging	Het
Nipbl	A	G	15: 8,356,574 (GRCm39)	L1604P	probably damaging	Het
Oas1f	A	T	5: 120,989,568 (GRCm39)	Y169F	probably benign	Het
Ogfod3	G	A	11: 121,093,851 (GRCm39)	T53I	probably benign	Het
Or2a56	A	T	6: 42,933,046 (GRCm39)	I205F	probably benign	Het
Or52r1c	G	A	7: 102,735,313 (GRCm39)	C191Y	probably damaging	Het
Or8k22	A	T	2: 86,162,868 (GRCm39)	Y277*	probably null	Het
Parp8	A	G	13: 117,047,399 (GRCm39)		probably null	Het
Pde4dip	T	C	3: 97,674,097 (GRCm39)	Y273C	probably benign	Het
Pgbd5	C	T	8: 125,111,257 (GRCm39)	A54T	probably damaging	Het
Pglyrp4	G	A	3: 90,646,424 (GRCm39)		probably benign	Het
Piezo1	A	T	8: 123,213,302 (GRCm39)	S1819R	probably benign	Het
Polr1a	T	C	6: 71,913,540 (GRCm39)		probably benign	Het
Polr1b	A	G	2: 128,944,886 (GRCm39)	I61V	probably benign	Het
Prlhr	G	T	19: 60,455,753 (GRCm39)	A271E	probably damaging	Het
Rad23b	C	T	4: 55,350,360 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,905,114 (GRCm39)	S132R	probably damaging	Het
Ros1	T	A	10: 52,020,980 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,677,767 (GRCm39)	D1327G	probably benign	Het
Slit1	A	C	19: 41,590,676 (GRCm39)	V1332G	probably damaging	Het
Spin2h	A	G	X: 32,162,153 (GRCm39)	D224G	probably damaging	Het
Tmem178b	A	G	6: 40,184,461 (GRCm39)	M120V	probably damaging	Het
Trim25	T	C	11: 88,890,630 (GRCm39)	C106R	probably damaging	Het
Trim35	A	G	14: 66,546,697 (GRCm39)	Y488C	probably damaging	Het
Tsc2	A	T	17: 24,840,703 (GRCm39)	H326Q	probably damaging	Het
Yap1	A	T	9: 7,950,536 (GRCm39)	I315K	probably benign	Het
Zfp654	A	G	16: 64,606,381 (GRCm39)	V607A	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
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
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

Posted On

2015-04-16