Mutagenetix > Incidental Mutation

Incidental Mutation 'R5048:Gje1'

394474

Institutional Source

Beutler Lab

Gene Symbol

Gje1

Ensembl Gene

ENSMUSG00000019867

Gene Name

gap junction protein, epsilon 1

Synonyms

Cx23, Gsfaey12, D230044M03Rik, AEY12, Gjf1, connexin 23

MMRRC Submission

042638-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5048 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14591367-14593958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14593021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 65 (Y65C)

Ref Sequence

ENSEMBL: ENSMUSP00000020016 (fasta)

Gene Model

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

AlphaFold

Q9CX92

Predicted Effect

probably damaging
Transcript: ENSMUST00000020016
AA Change: Y65C

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

SMART Domains

Protein: ENSMUSP00000020016
Gene: ENSMUSG00000019867
AA Change: Y65C

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

Meta Mutation Damage Score

0.3839

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.1%

Validation Efficiency

98% (64/65)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,138,850 (GRCm39)	I144V	probably benign	Het
Abhd5	T	C	9: 122,206,968 (GRCm39)	Y85H	probably damaging	Het
Acadsb	G	A	7: 131,039,198 (GRCm39)	G323D	probably damaging	Het
Amotl2	A	G	9: 102,600,997 (GRCm39)	R322G	probably benign	Het
Aox1	A	T	1: 58,098,641 (GRCm39)		probably benign	Het
Aste1	C	T	9: 105,274,188 (GRCm39)	R82W	probably damaging	Het
Atg4b	T	C	1: 93,703,380 (GRCm39)	I139T	possibly damaging	Het
Btnl5-ps	T	A	17: 34,707,697 (GRCm39)		noncoding transcript	Het
Ccdc85c	A	G	12: 108,187,966 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,475,340 (GRCm39)		probably benign	Het
Defb10	G	A	8: 22,351,887 (GRCm39)	C44Y	probably damaging	Het
Dhrs9	T	C	2: 69,224,744 (GRCm39)	V144A	probably damaging	Het
Dnhd1	G	C	7: 105,342,904 (GRCm39)	S1416T	probably benign	Het
Dok1	T	A	6: 83,009,087 (GRCm39)		probably benign	Het
Emilin2	G	A	17: 71,580,962 (GRCm39)	T588M	probably damaging	Het
Fam181b	A	G	7: 92,729,147 (GRCm39)		probably benign	Het
Fhad1	T	C	4: 141,691,987 (GRCm39)		probably null	Het
Foxi2	A	G	7: 135,013,364 (GRCm39)	E198G	probably damaging	Het
Fsip2	C	A	2: 82,823,494 (GRCm39)	A6409E	probably damaging	Het
Gm6401	T	C	14: 41,789,724 (GRCm39)		probably null	Het
Gprc5c	T	C	11: 114,761,177 (GRCm39)	*442Q	probably null	Het
Iars1	T	A	13: 49,841,713 (GRCm39)	I67N	probably damaging	Het
Igkv4-79	T	C	6: 69,019,971 (GRCm39)	S115G	probably benign	Het
Itga4	C	A	2: 79,103,378 (GRCm39)	S156R	probably benign	Het
Lilra6	C	T	7: 3,918,440 (GRCm39)		probably null	Het
Majin	C	A	19: 6,272,684 (GRCm39)	A208E	probably benign	Het
Megf8	A	G	7: 25,030,517 (GRCm39)	Q490R	possibly damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mgarp	G	A	3: 51,298,707 (GRCm39)	R88C	probably damaging	Het
Msh2	T	C	17: 87,980,196 (GRCm39)	F58S	probably damaging	Het
Nemp1	T	C	10: 127,526,804 (GRCm39)		probably null	Het
Nlrp10	A	T	7: 108,523,772 (GRCm39)	N569K	probably benign	Het
Nxpe2	T	C	9: 48,237,388 (GRCm39)		probably null	Het
Or4c106	T	C	2: 88,682,807 (GRCm39)	V171A	possibly damaging	Het
Or5w16	C	A	2: 87,576,663 (GRCm39)	A41E	probably benign	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pigb	T	A	9: 72,936,990 (GRCm39)		probably null	Het
Pitpnb	T	C	5: 111,530,869 (GRCm39)	F221L	possibly damaging	Het
Prox2	A	T	12: 85,141,115 (GRCm39)	W363R	probably damaging	Het
Psmg1	T	A	16: 95,785,171 (GRCm39)	R139S	probably benign	Het
Rab11fip3	A	G	17: 26,286,554 (GRCm39)		probably null	Het
Samd9l	G	A	6: 3,374,157 (GRCm39)	R1035C	probably benign	Het
Shkbp1	G	A	7: 27,051,521 (GRCm39)		probably benign	Het
Slc30a5	C	A	13: 100,943,249 (GRCm39)	L536F	probably damaging	Het
Slc6a17	A	T	3: 107,378,753 (GRCm39)	L643*	probably null	Het
Slit3	T	C	11: 35,479,812 (GRCm39)	Y330H	probably damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Stoml3	A	C	3: 53,408,213 (GRCm39)	K86N	possibly damaging	Het
Tmtc1	A	T	6: 148,139,344 (GRCm39)	L926Q	possibly damaging	Het
Tns4	T	G	11: 98,969,605 (GRCm39)	R285S	possibly damaging	Het
Uncx	C	T	5: 139,532,874 (GRCm39)	T313M	probably benign	Het
Vmn2r75	G	A	7: 85,814,735 (GRCm39)	R253C	possibly damaging	Het
Zbed6	T	C	1: 133,586,462 (GRCm39)	S292G	probably damaging	Het
Zfp143	A	G	7: 109,673,325 (GRCm39)	T142A	probably damaging	Het
Zfp287	T	C	11: 62,605,777 (GRCm39)	K366E	probably damaging	Het

Other mutations in Gje1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02336:Gje1	APN	10	14,592,413 (GRCm39)	missense	probably damaging	1.00
IGL02579:Gje1	APN	10	14,592,492 (GRCm39)	missense	probably benign	0.23
IGL03046:Gje1	UTSW	10	14,592,374 (GRCm39)	missense	probably damaging	1.00
R0884:Gje1	UTSW	10	14,592,484 (GRCm39)	missense	possibly damaging	0.84
R1444:Gje1	UTSW	10	14,592,380 (GRCm39)	splice site	probably null
R1666:Gje1	UTSW	10	14,592,551 (GRCm39)	missense	possibly damaging	0.57
R1725:Gje1	UTSW	10	14,592,168 (GRCm39)	nonsense	probably null
R4841:Gje1	UTSW	10	14,593,082 (GRCm39)	missense	probably null	1.00
R4842:Gje1	UTSW	10	14,593,082 (GRCm39)	missense	probably null	1.00
R5104:Gje1	UTSW	10	14,592,462 (GRCm39)	nonsense	probably null
R5421:Gje1	UTSW	10	14,592,428 (GRCm39)	missense	probably damaging	1.00
R5422:Gje1	UTSW	10	14,592,428 (GRCm39)	missense	probably damaging	1.00
R5897:Gje1	UTSW	10	14,592,467 (GRCm39)	missense	probably damaging	1.00
R6386:Gje1	UTSW	10	14,592,365 (GRCm39)	missense	probably damaging	1.00
R6930:Gje1	UTSW	10	14,593,886 (GRCm39)	missense	possibly damaging	0.90
R7426:Gje1	UTSW	10	14,592,223 (GRCm39)	missense	probably damaging	1.00
R7576:Gje1	UTSW	10	14,592,501 (GRCm39)	missense	probably damaging	1.00
R7650:Gje1	UTSW	10	14,592,168 (GRCm39)	nonsense	probably null
R8020:Gje1	UTSW	10	14,593,021 (GRCm39)	missense	probably damaging	1.00
R8795:Gje1	UTSW	10	14,593,870 (GRCm39)	missense	probably benign	0.03
R8926:Gje1	UTSW	10	14,592,435 (GRCm39)	missense	probably benign
R9770:Gje1	UTSW	10	14,592,473 (GRCm39)	missense	probably benign	0.00
X0065:Gje1	UTSW	10	14,592,343 (GRCm39)	missense	possibly damaging	0.82
Z1088:Gje1	UTSW	10	14,593,868 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- CACTGGTATCTGCTAAAGAAATGG -3'
(R):5'- CATGAATACATCCTCCCAATTGTCC -3'

Sequencing Primer
(F):5'- TGGTATCTGCTAAAGAAATGGTAAAG -3'
(R):5'- ATCCTCCCAATTGTCCTTTTTAAATG -3'

Posted On

2016-06-15