Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Gjb3'

694549

Institutional Source

Beutler Lab

Gene Symbol

Gjb3

Ensembl Gene

ENSMUSG00000042367

Gene Name

gap junction protein, beta 3

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127325235-127330844 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127326347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 131 (Y131H)

Ref Sequence

ENSEMBL: ENSMUSP00000046755 (fasta)

Gene Model

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

AlphaFold

P28231

Predicted Effect

probably damaging
Transcript: ENSMUST00000046532
AA Change: Y131H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046755
Gene: ENSMUSG00000042367
AA Change: Y131H

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 damaging
Transcript: ENSMUST00000106091
AA Change: Y131H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101697
Gene: ENSMUSG00000042367
AA Change: Y131H

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,559,069	H720L	probably benign	Het
Abca15	T	C	7: 120,388,165	Y1225H	probably benign	Het
Adck1	C	A	12: 88,368,423	N26K	probably benign	Het
Adcy3	A	G	12: 4,195,208	D382G	probably damaging	Het
Ahi1	T	A	10: 21,000,589	C800S	probably benign	Het
Ahnak	G	T	19: 9,014,923	V4524L	probably benign	Het
Apol11a	C	T	15: 77,513,578	A43V	probably benign	Het
Arid1a	T	C	4: 133,693,903	M479V	unknown	Het
Atp13a2	T	A	4: 140,996,745	C324S	probably damaging	Het
C2cd2	T	G	16: 97,876,286	T413P	probably damaging	Het
Cct5	A	C	15: 31,590,961	D531E		Het
Chst1	A	T	2: 92,614,178	I332F	probably damaging	Het
Col12a1	A	T	9: 79,620,062	V2662D	probably benign	Het
Cts3	A	G	13: 61,564,986	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,121,212		probably benign	Het
Dhx9	A	G	1: 153,461,080	I807T	probably damaging	Het
Doxl2	C	A	6: 48,975,956	R272S	probably benign	Het
Exoc3l4	T	C	12: 111,422,152	L25P	probably benign	Het
Ggcx	T	A	6: 72,425,922	C288S	probably benign	Het
Hdhd3	A	G	4: 62,499,337	S201P	probably benign	Het
Helz2	A	T	2: 181,240,055	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,696,250		probably null	Het
Il12a	C	T	3: 68,691,542	R19W	unknown	Het
Isoc1	C	T	18: 58,673,275	A219V	possibly damaging	Het
Jup	T	A	11: 100,378,298	T430S	probably benign	Het
Klra5	C	T	6: 129,909,948	C39Y	probably benign	Het
Map4	A	T	9: 110,026,200	Q131L	probably damaging	Het
Mau2	T	A	8: 70,027,515	K314M	probably damaging	Het
Mga	A	G	2: 119,964,012	M2726V	probably benign	Het
Mgme1	G	A	2: 144,272,485		probably null	Het
Msrb2	A	G	2: 19,394,255	E143G	probably benign	Het
Muc5b	G	T	7: 141,857,613	C1432F	unknown	Het
Naglu	T	C	11: 101,071,114	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,218,367	Y103H	probably benign	Het
Nodal	A	G	10: 61,423,680	N299D	probably damaging	Het
Notch1	T	C	2: 26,459,575	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,572,952	S97A	probably benign	Het
Nuak1	A	T	10: 84,374,723	S500R	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,737,913	E104G	probably benign	Het
Olfr401	C	T	11: 74,121,700	T137I	probably benign	Het
Olfr670	T	A	7: 104,959,997	H245L	probably damaging	Het
Palld	T	C	8: 61,877,073	T257A	probably benign	Het
Pcnx4	C	T	12: 72,556,269	P435L	probably damaging	Het
Piezo1	T	C	8: 122,482,014	T2538A	unknown	Het
Plagl1	T	C	10: 13,128,128	L380P	unknown	Het
Polrmt	G	T	10: 79,740,581	Q514K	probably benign	Het
Psg17	T	G	7: 18,819,926	D133A	probably benign	Het
Rab3b	G	A	4: 108,940,706	D185N	probably benign	Het
Ranbp2	T	A	10: 58,455,914	S248T	probably benign	Het
Rdh10	C	A	1: 16,129,206	A212D	probably damaging	Het
Rinl	A	G	7: 28,795,664	H154R		Het
Selenbp1	T	C	3: 94,944,103	M389T	probably benign	Het
Serpina1c	T	A	12: 103,896,141	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,149,681	S467T		Het
Sipa1l1	A	G	12: 82,396,561	D875G	probably benign	Het
Slc10a6	A	T	5: 103,628,934	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,270,355	I577V	possibly damaging	Het
Slc20a2	T	C	8: 22,540,431	F168L	probably benign	Het
Slc25a1	A	T	16: 17,927,244		probably null	Het
Slc5a12	A	G	2: 110,640,897	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,800,932	D42G	possibly damaging	Het
Spag16	G	C	1: 70,381,300	L482F	probably damaging	Het
Susd5	G	A	9: 114,096,221	G391R	probably damaging	Het
Sync	G	T	4: 129,293,825	A217S		Het
Tha1	T	A	11: 117,868,686	N326Y	probably damaging	Het
Tjp1	A	T	7: 65,302,816	F1590Y	probably benign	Het
Tle4	T	C	19: 14,468,219	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024	T2054A	probably damaging	Het
Ttc30a1	A	T	2: 75,980,079	Y553*	probably null	Het
Ttll4	A	G	1: 74,679,790	K267E	probably benign	Het
Usp32	C	T	11: 85,022,292	G930D	probably damaging	Het
Vmn2r75	T	C	7: 86,164,239	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,268,194	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,398		probably benign	Het
Zfp459	C	T	13: 67,408,616	S116N	probably benign	Het
Zfp981	C	A	4: 146,537,953	T445N	possibly damaging	Het

Other mutations in Gjb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Gjb3	APN	4	127326121	missense	probably damaging	0.99
IGL02398:Gjb3	APN	4	127326062	missense	probably benign	0.00
IGL02501:Gjb3	APN	4	127326364	missense	probably damaging	1.00
IGL02680:Gjb3	APN	4	127326022	missense	probably damaging	0.98
R0118:Gjb3	UTSW	4	127326658	missense	probably damaging	1.00
R0481:Gjb3	UTSW	4	127326332	missense	probably benign	0.00
R1142:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1250:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1279:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1280:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1281:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1282:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1322:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1324:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1325:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1341:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1382:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1799:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1834:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R1836:Gjb3	UTSW	4	127326431	missense	probably damaging	1.00
R4650:Gjb3	UTSW	4	127326691	missense	probably damaging	1.00
R5026:Gjb3	UTSW	4	127326487	missense	probably damaging	1.00
R6310:Gjb3	UTSW	4	127326640	missense	probably damaging	0.99
R6357:Gjb3	UTSW	4	127326630	nonsense	probably null
R9092:Gjb3	UTSW	4	127326665	frame shift	probably null
R9092:Gjb3	UTSW	4	127326678	frame shift	probably null
R9093:Gjb3	UTSW	4	127326665	frame shift	probably null
R9094:Gjb3	UTSW	4	127326665	frame shift	probably null
R9511:Gjb3	UTSW	4	127326338	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGCGCCTACCATGAAGTAG -3'
(R):5'- CGTGTGCTATGACAACTTCTTC -3'

Sequencing Primer
(F):5'- GGTAAAGACCTTCTTCTCCGTGG -3'
(R):5'- CATCTCCAACATCCGACTCTGGG -3'

Posted On

2022-01-20