Mutagenetix > Incidental Mutations

Incidental Mutation 'R1666:Gje1'

187204

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

039702-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R1666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14715623-14718214 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 14716807 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 77 (W77L)

Ref Sequence

ENSEMBL: ENSMUSP00000020016 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020016
AA Change: W77L

PolyPhen 2 Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020016
Gene: ENSMUSG00000019867
AA Change: W77L

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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	G	3: 108,469,997	S434P	probably benign	Het
Acvrl1	G	A	15: 101,137,577	R328H	probably damaging	Het
Afp	T	C	5: 90,505,068	S466P	probably damaging	Het
Arhgap45	A	G	10: 80,028,750	S879G	possibly damaging	Het
Asic1	A	G	15: 99,699,125	D556G	probably damaging	Het
Atp2a3	T	A	11: 72,978,807		probably null	Het
Brinp2	C	A	1: 158,246,558	E664D	probably damaging	Het
Cap2	C	A	13: 46,615,323	H147N	probably damaging	Het
Cd209f	G	A	8: 4,104,862	Q79*	probably null	Het
Chrna7	T	C	7: 63,212,142	Y54C	possibly damaging	Het
Clec1a	T	C	6: 129,437,004	D40G	probably benign	Het
Col11a1	A	G	3: 114,061,535	E148G	unknown	Het
Comp	A	T	8: 70,378,957		probably null	Het
Cpz	A	G	5: 35,508,116		probably null	Het
Cyfip1	T	A	7: 55,871,898	N13K	probably damaging	Het
Cyp2c50	A	T	19: 40,091,055	M198L	probably benign	Het
Deup1	A	T	9: 15,575,191	Y398N	possibly damaging	Het
Epb41l4a	A	G	18: 33,921,909	L42P	probably damaging	Het
Exo1	T	C	1: 175,908,486	I812T	possibly damaging	Het
Fbxl17	A	T	17: 63,385,065		probably null	Het
Fxn	A	G	19: 24,262,013	Y172H	probably damaging	Het
Gabra6	A	G	11: 42,317,634	S124P	probably damaging	Het
Glra1	A	G	11: 55,574,399	S23P	probably damaging	Het
Gm6614	T	A	6: 141,982,049		probably null	Het
Gm6811	T	C	17: 21,094,267		noncoding transcript	Het
Greb1l	T	A	18: 10,501,080		probably null	Het
Greb1l	T	C	18: 10,529,708		probably null	Het
Grm6	A	T	11: 50,859,884	I625F	probably damaging	Het
Guca1a	A	G	17: 47,400,242	F60L	probably damaging	Het
Hectd1	T	A	12: 51,753,824	E2070D	possibly damaging	Het
Itga5	G	A	15: 103,347,902	T910I	probably benign	Het
Kctd10	A	G	5: 114,368,990	V142A	probably benign	Het
Kif1c	C	T	11: 70,728,397	L953F	probably damaging	Het
Lmtk3	A	T	7: 45,794,164	D757V	probably benign	Het
Lpcat1	T	C	13: 73,510,123		probably null	Het
Lrrc30	A	T	17: 67,632,205	C127S	probably benign	Het
Mc4r	A	G	18: 66,859,409	L211P	probably damaging	Het
Mettl7a3	A	G	15: 100,335,218	I97V	probably benign	Het
Mgat5b	T	A	11: 116,983,648	N635K	probably benign	Het
Mms19	A	T	19: 41,952,556	M443K	possibly damaging	Het
Mroh5	T	C	15: 73,787,905	N359S	probably benign	Het
Nlrc4	G	A	17: 74,445,906	T494M	probably damaging	Het
Ntf3	T	C	6: 126,102,438	D35G	possibly damaging	Het
Olfr1002	A	T	2: 85,647,813	C169*	probably null	Het
Osbpl5	T	C	7: 143,709,039	H192R	probably damaging	Het
Parp4	A	T	14: 56,624,163	K984N	possibly damaging	Het
Pdgfra	G	A	5: 75,189,020	G892D	possibly damaging	Het
Pik3c2g	A	T	6: 139,635,636		probably benign	Het
Ppcdc	T	A	9: 57,414,715	M181L	possibly damaging	Het
Pramel7	G	A	2: 87,492,403	P6S	probably damaging	Het
Prkcz	G	T	4: 155,289,751	F69L	probably damaging	Het
Prkd1	G	A	12: 50,394,926	H277Y	probably damaging	Het
Ptgs2	A	G	1: 150,101,270	Y44C	probably damaging	Het
Rbck1	T	A	2: 152,316,899	S488C	probably damaging	Het
Rbl1	T	C	2: 157,159,734	Y878C	probably damaging	Het
Rbm6	G	A	9: 107,791,856	T619I	probably benign	Het
Rp1	A	G	1: 4,349,863	I342T	probably damaging	Het
Rpn2	C	T	2: 157,294,155	T161M	possibly damaging	Het
Rufy4	G	A	1: 74,147,678	V542I	probably benign	Het
Sema5b	C	T	16: 35,658,482	P559S	probably benign	Het
Serpinb3d	A	G	1: 107,080,751	V128A	probably benign	Het
Slc35f3	T	A	8: 126,389,221	S296T	probably damaging	Het
Smarca2	A	G	19: 26,647,034	I365V	possibly damaging	Het
Spdya	T	A	17: 71,578,240	C230S	probably damaging	Het
Sv2b	G	A	7: 75,206,341	A67V	probably benign	Het
Tapbpl	A	G	6: 125,230,201	V175A	probably benign	Het
Ttn	T	C	2: 76,811,751	T13373A	probably damaging	Het
Tubb5	A	T	17: 35,836,638	N52K	probably benign	Het
Tyr	T	A	7: 87,492,941	Y137F	probably damaging	Het
Unc45b	T	A	11: 82,917,739	I217N	probably benign	Het
Vmn1r202	A	T	13: 22,501,370	D292E	possibly damaging	Het
Vmn1r22	A	G	6: 57,900,719	M91T	probably benign	Het
Washc2	T	A	6: 116,223,254		probably null	Het
Zfp566	A	T	7: 30,078,476	H93Q	probably benign	Het
Zfp740	A	G	15: 102,208,318	D56G	probably damaging	Het
Zfp804b	A	C	5: 6,771,323	L580R	possibly damaging	Het
Zmiz2	T	G	11: 6,396,836	S148R	probably benign	Het
Zmym6	T	A	4: 127,122,859	I719N	probably damaging	Het
Zyx	T	A	6: 42,356,032	V372E	possibly damaging	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
R0884:Gje1	UTSW	10	14716740	missense	possibly damaging	0.84
R1444:Gje1	UTSW	10	14716636	splice site	probably null
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
R8020:Gje1	UTSW	10	14717277	missense	probably damaging	1.00
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'- ATGCGAACACCTCCAGGCTGATTC -3'
(R):5'- CTCCCCAAGTAAGCTTTCTGGCAC -3'

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

Posted On

2014-05-09