Mutagenetix > Incidental Mutations

Incidental Mutation 'R0884:Gje1'

81063

Institutional Source

Beutler Lab

Gene Symbol

Gje1

Ensembl Gene

ENSMUSG00000019867

Gene Name

gap junction protein, epsilon 1

Synonyms

AEY12, connexin 23, Cx23, Gjf1, Gsfaey12

MMRRC Submission

039051-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R0884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14715623-14718214 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 14716740 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 99 (S99R)

Ref Sequence

ENSEMBL: ENSMUSP00000020016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020016] [ENSMUST00000190114] [ENSMUST00000191238]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020016
AA Change: S99R

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020016
Gene: ENSMUSG00000019867
AA Change: S99R

Domain	Start	End	E-Value	Type
Blast:Connexin_CCC	31	74	3e-21	BLAST
Connexin_CCC	125	194	2.75e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188021

Predicted Effect

probably benign
Transcript: ENSMUST00000190114

SMART Domains

Protein: ENSMUSP00000140754
Gene: ENSMUSG00000019865

Domain	Start	End	E-Value	Type
Pfam:7tm_1	8	119	6.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191238

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice with a mutation in this gene have small eyes. Eye/lens development arrests at the lens vesicle stage, and no primary lens fibers form. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,553,288	I844N	possibly damaging	Het
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,747,059		probably benign	Het
Adam6b	A	T	12: 113,490,995	R477S	probably damaging	Het
Aqp7	T	A	4: 41,034,929	T175S	possibly damaging	Het
Bclaf1	A	T	10: 20,322,076	R22*	probably null	Het
Bend7	A	T	2: 4,744,244	K57N	probably damaging	Het
Bicc1	A	C	10: 70,958,847	V160G	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cep72	A	G	13: 74,054,881		probably null	Het
Cobl	A	G	11: 12,375,908	I196T	possibly damaging	Het
Cux1	T	G	5: 136,307,835	D941A	probably damaging	Het
Cyp2a12	T	C	7: 27,032,542	I236T	probably benign	Het
Depdc5	T	A	5: 32,917,978	V500D	possibly damaging	Het
Dhx35	T	C	2: 158,831,711	I354T	probably damaging	Het
Dnase1l2	A	G	17: 24,441,880	V170A	possibly damaging	Het
Eif4g3	C	A	4: 138,151,776	N588K	possibly damaging	Het
Epsti1	A	T	14: 77,931,275	R117S	probably damaging	Het
Fam53a	T	C	5: 33,600,816	E321G	probably benign	Het
Fat4	C	A	3: 38,982,858	T3553K	possibly damaging	Het
Fer1l4	T	C	2: 156,019,313	T1978A	possibly damaging	Het
Gabarapl2	A	T	8: 111,942,505	I32F	probably damaging	Het
Gm13083	A	G	4: 143,615,184	D61G	probably benign	Het
Gosr1	A	G	11: 76,730,146	I239T	probably benign	Het
Gpnmb	T	C	6: 49,047,913	V293A	possibly damaging	Het
Hyi	T	A	4: 118,360,217	I62N	probably damaging	Het
Il4ra	A	G	7: 125,574,663	I267V	probably damaging	Het
Kcnd2	A	T	6: 21,216,541	Q81H	probably benign	Het
Ksr1	A	T	11: 79,021,503	H675Q	possibly damaging	Het
Lpcat4	A	G	2: 112,242,732	N208S	probably damaging	Het
Muc3	T	A	5: 137,142,298	T162S	possibly damaging	Het
Mup3	T	A	4: 62,087,174	I20F	possibly damaging	Het
Nebl	A	C	2: 17,411,118	S327A	probably benign	Het
Nfatc4	A	C	14: 55,826,644	D126A	probably damaging	Het
Nmt2	A	T	2: 3,314,785	R271*	probably null	Het
Nol7	G	A	13: 43,400,615	V133I	probably benign	Het
Olfr376	A	T	11: 73,374,889	I47F	probably benign	Het
Olfr610	C	T	7: 103,506,862	W28*	probably null	Het
Pde4d	A	T	13: 109,950,940	I670L	probably damaging	Het
Phlpp1	T	A	1: 106,389,665		probably null	Het
Pigz	A	G	16: 31,941,976		probably null	Het
Prrg4	A	T	2: 104,839,362	Y137N	probably damaging	Het
Rbm28	A	T	6: 29,155,154	S217T	possibly damaging	Het
Ryr2	T	C	13: 11,554,529	D4963G	probably damaging	Het
Slc35b2	T	A	17: 45,566,825	F293I	probably damaging	Het
Slc35f1	A	T	10: 53,089,347	Y286F	probably damaging	Het
Slc6a18	G	T	13: 73,667,037	A384D	probably damaging	Het
St5	A	G	7: 109,557,345	L66P	probably damaging	Het
Syt9	A	G	7: 107,436,561	I262V	probably damaging	Het
Tln2	C	A	9: 67,370,733	R333L	probably damaging	Het
Tnrc6b	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAG	15: 80,902,555		probably benign	Het
Ttn	G	A	2: 76,751,066	T14834I	possibly damaging	Het
Uggt1	T	C	1: 36,175,078	S177G	probably benign	Het
Zfp454	A	G	11: 50,873,937	S223P	probably benign	Het
Zmat4	A	G	8: 24,015,127	T128A	probably benign	Het

Other mutations in Gje1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02336:Gje1	APN	10	14716669	missense	probably damaging	1.00
IGL02579:Gje1	APN	10	14716748	missense	probably benign	0.23
IGL03046:Gje1	UTSW	10	14716630	missense	probably damaging	1.00
R1444:Gje1	UTSW	10	14716636	intron	probably null
R1666:Gje1	UTSW	10	14716807	missense	possibly damaging	0.57
R1725:Gje1	UTSW	10	14716424	nonsense	probably null
R4841:Gje1	UTSW	10	14717338	missense	probably null	1.00
R4842:Gje1	UTSW	10	14717338	missense	probably null	1.00
R5048:Gje1	UTSW	10	14717277	missense	probably damaging	1.00
R5104:Gje1	UTSW	10	14716718	nonsense	probably null
R5421:Gje1	UTSW	10	14716684	missense	probably damaging	1.00
R5422:Gje1	UTSW	10	14716684	missense	probably damaging	1.00
R5897:Gje1	UTSW	10	14716723	missense	probably damaging	1.00
R6386:Gje1	UTSW	10	14716621	missense	probably damaging	1.00
R6930:Gje1	UTSW	10	14718142	missense	possibly damaging	0.90
R7426:Gje1	UTSW	10	14716479	missense	probably damaging	1.00
R7576:Gje1	UTSW	10	14716757	missense	probably damaging	1.00
R7650:Gje1	UTSW	10	14716424	nonsense	probably null
X0065:Gje1	UTSW	10	14716599	missense	possibly damaging	0.82
Z1088:Gje1	UTSW	10	14718124	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- CTTTTCAAAGTGCTCTGGAACCATGC -3'
(R):5'- CCCCAAGTAAGCTTTCTGGCACAC -3'

Sequencing Primer
(F):5'- TGAAGCCAGAATGCGAACAC -3'
(R):5'- CCATTTCTTTAGCAGATACCAGTG -3'

Posted On

2013-11-07