Mutagenetix > Incidental Mutation

Incidental Mutation 'R9092:Gjb3'

691057

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

068908-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9092 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

127219028-127224633 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

A to AGATGCGCCCG at 127220471 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: 99.8%
20x: 99.4%

Validation Efficiency

93% (56/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chl1	T	C	6: 103,645,815 (GRCm39)		probably benign	Het
Crtc3	T	C	7: 80,239,628 (GRCm39)	M575V	probably benign	Het
Cux1	T	A	5: 136,514,671 (GRCm39)	N22I	probably damaging	Het
Dcun1d2	G	A	8: 13,307,935 (GRCm39)	R248W	probably damaging	Het
Dlc1	G	T	8: 37,199,860 (GRCm39)	H7Q	probably benign	Het
Drd2	A	G	9: 49,307,004 (GRCm39)	D30G	probably benign	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
E2f7	T	C	10: 110,616,874 (GRCm39)	S705P	probably benign	Het
Ephb3	G	A	16: 21,041,214 (GRCm39)	S977N	probably benign	Het
F13a1	T	G	13: 37,089,993 (GRCm39)	D448A	probably benign	Het
Fam216b	T	C	14: 78,322,537 (GRCm39)	T56A	possibly damaging	Het
Fcho2	T	C	13: 98,886,391 (GRCm39)	T408A	probably benign	Het
Flvcr1	A	T	1: 190,740,364 (GRCm39)	V552E		Het
Gab3	CTT	CTTGTT	X: 74,043,612 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,602 (GRCm39)		probably benign	Het
Galnt15	A	G	14: 31,780,196 (GRCm39)	K622E	probably benign	Het
Gm5414	T	G	15: 101,536,345 (GRCm39)	R93S	probably benign	Het
Gtf2i	A	G	5: 134,318,241 (GRCm39)	*87Q	probably null	Het
Il7r	T	A	15: 9,510,270 (GRCm39)	H261L	probably benign	Het
Itsn1	T	A	16: 91,609,002 (GRCm39)	M250K	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Liat1	A	G	11: 75,893,887 (GRCm39)	D88G	possibly damaging	Het
Lrrc47	C	A	4: 154,096,421 (GRCm39)	T72K	possibly damaging	Het
Map2k4	C	A	11: 65,581,599 (GRCm39)	R371L	probably benign	Het
Mmrn2	T	C	14: 34,118,587 (GRCm39)	F158L	probably benign	Het
Mtus1	A	T	8: 41,455,475 (GRCm39)	L242Q	probably damaging	Het
Myo5a	T	C	9: 75,054,414 (GRCm39)		probably null	Het
Noc3l	T	A	19: 38,798,487 (GRCm39)	K305I	probably damaging	Het
Or4p8	T	C	2: 88,727,321 (GRCm39)	T207A	probably damaging	Het
Pag1	T	C	3: 9,764,848 (GRCm39)	T102A	probably benign	Het
Pam	A	G	1: 97,791,976 (GRCm39)	S482P	probably benign	Het
Pax1	T	G	2: 147,204,287 (GRCm39)	W23G	unknown	Het
Pcdhgb1	T	A	18: 37,813,989 (GRCm39)	V160D	possibly damaging	Het
Pdzph1	T	C	17: 59,280,125 (GRCm39)	D719G	probably damaging	Het
Phlda1	T	C	10: 111,342,474 (GRCm39)	L70S	possibly damaging	Het
Pikfyve	G	A	1: 65,283,559 (GRCm39)	R732K	probably damaging	Het
Pkd1	G	T	17: 24,788,347 (GRCm39)	V702F	possibly damaging	Het
Pkhd1	A	G	1: 20,632,586 (GRCm39)	Y610H	probably benign	Het
Pofut1	T	G	2: 153,101,508 (GRCm39)	H87Q	probably benign	Het
Runx2	C	A	17: 45,046,443 (GRCm39)	D109Y	probably damaging	Het
Serpina1b	T	A	12: 103,696,540 (GRCm39)	I290F	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sh3tc1	T	C	5: 35,874,321 (GRCm39)	N198S	probably benign	Het
Slc27a6	C	A	18: 58,742,330 (GRCm39)	R515S	probably benign	Het
Sorbs3	C	T	14: 70,445,004 (GRCm39)	V25I	probably benign	Het
Speg	A	G	1: 75,399,378 (GRCm39)	E2275G	probably benign	Het
Tmem161b	C	T	13: 84,440,503 (GRCm39)	T307I	possibly damaging	Het
Tmem30a	T	C	9: 79,678,581 (GRCm39)	D361G	probably damaging	Het
Tmprss11c	T	C	5: 86,385,495 (GRCm39)	T326A	probably benign	Het
Tpbg	T	C	9: 85,726,916 (GRCm39)	V295A	possibly damaging	Het
Ulk4	A	T	9: 120,903,003 (GRCm39)	I1158N		Het
Utp20	C	A	10: 88,604,679 (GRCm39)	A1739S	probably benign	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vmn1r66	T	A	7: 10,008,110 (GRCm39)	I308F	possibly damaging	Het
Vmn2r101	A	T	17: 19,809,807 (GRCm39)	T198S	probably benign	Het
Vps16	T	C	2: 130,281,593 (GRCm39)	I318T	probably damaging	Het
Wdr11	T	A	7: 129,226,451 (GRCm39)	W750R	probably damaging	Het
Zfp608	A	G	18: 55,031,648 (GRCm39)	I764T	probably benign	Het
Zfp708	C	A	13: 67,218,564 (GRCm39)	D420Y	probably 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	127,220,458 (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'- ACGTGACGAAGATGAGCTGC -3'
(R):5'- CTGGACTCTGACATGTGCAC -3'

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

Posted On

2021-12-30