Mutagenetix > Incidental Mutation

Incidental Mutation 'R5422:Gje1'

426651

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

042846-MU

Accession Numbers

Essential gene?

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

Stock #

R5422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14591367-14593958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 14592428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 118 (S118L)

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: S118L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020016
Gene: ENSMUSG00000019867
AA Change: S118L

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: 98.6%
10x: 97.1%
20x: 94.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 114,425,606 (GRCm39)	S1219G	probably benign	Het
Adgrg5	T	A	8: 95,660,580 (GRCm39)	I73N	probably damaging	Het
Agmat	C	A	4: 141,483,144 (GRCm39)	H193N	probably damaging	Het
Ambn	T	C	5: 88,612,370 (GRCm39)		probably null	Het
Atp8b5	T	A	4: 43,366,644 (GRCm39)	C803S	probably benign	Het
Btaf1	A	T	19: 36,928,507 (GRCm39)	R109S	probably benign	Het
Btnl6	C	T	17: 34,733,081 (GRCm39)	G261R	possibly damaging	Het
Clk3	A	G	9: 57,672,721 (GRCm39)	V27A	probably benign	Het
Clu	A	G	14: 66,213,051 (GRCm39)	S146G	probably damaging	Het
Cyp2w1	T	C	5: 139,338,528 (GRCm39)	F43L	probably benign	Het
Elf3	C	T	1: 135,182,778 (GRCm39)	E316K	probably damaging	Het
Epha5	A	T	5: 84,479,349 (GRCm39)	D218E	probably damaging	Het
Ereg	T	C	5: 91,222,666 (GRCm39)		probably null	Het
Ewsr1	A	G	11: 5,030,668 (GRCm39)		probably benign	Het
Fat4	A	G	3: 38,941,394 (GRCm39)	I96V	possibly damaging	Het
Fgl2	T	G	5: 21,580,808 (GRCm39)	N383K	probably damaging	Het
Fkbp11	A	T	15: 98,625,989 (GRCm39)		probably null	Het
Fn3k	C	A	11: 121,340,948 (GRCm39)	P201Q	probably damaging	Het
Fsip2	A	G	2: 82,812,572 (GRCm39)	I2964V	probably benign	Het
Gbx1	C	T	5: 24,709,667 (GRCm39)	V393I	possibly damaging	Het
Gch1	C	T	14: 47,394,906 (GRCm39)	A187T	probably damaging	Het
Ghdc	C	A	11: 100,660,020 (GRCm39)	K242N	probably benign	Het
Ghrhr	A	G	6: 55,365,188 (GRCm39)	H394R	probably benign	Het
Hnrnpa2b1	A	T	6: 51,442,208 (GRCm39)	S236R	probably benign	Het
Kcnj5	A	G	9: 32,229,001 (GRCm39)	Y66H	probably benign	Het
Kif15	T	A	9: 122,813,954 (GRCm39)		probably null	Het
Magi3	C	T	3: 103,958,684 (GRCm39)	C467Y	probably damaging	Het
Map7	G	T	10: 20,142,512 (GRCm39)	V303F	probably damaging	Het
Mapk11	A	G	15: 89,030,488 (GRCm39)	L135P	probably damaging	Het
Mapkapk5	T	A	5: 121,669,785 (GRCm39)		probably null	Het
Myh7b	A	C	2: 155,472,954 (GRCm39)	Q1405P	probably damaging	Het
Nalcn	A	T	14: 123,752,777 (GRCm39)	I328N	probably damaging	Het
Nprl2	C	A	9: 107,420,796 (GRCm39)	R144S	probably benign	Het
Ogfr	G	T	2: 180,237,067 (GRCm39)	D551Y	possibly damaging	Het
Ogfr	A	T	2: 180,237,068 (GRCm39)	D551V	probably benign	Het
Or6b13	A	T	7: 139,782,305 (GRCm39)	V126E	probably damaging	Het
Or8c10	A	T	9: 38,279,270 (GRCm39)	T143S	probably benign	Het
Parp14	T	C	16: 35,686,545 (GRCm39)	K101E	probably benign	Het
Pcdhb16	A	T	18: 37,612,920 (GRCm39)	T627S	probably damaging	Het
Pdzrn4	G	A	15: 92,575,502 (GRCm39)	G303S	probably benign	Het
Plcl1	A	T	1: 55,736,543 (GRCm39)	Y628F	probably benign	Het
Ptpn9	T	A	9: 56,940,441 (GRCm39)	W194R	probably damaging	Het
Ranbp9	A	T	13: 43,573,102 (GRCm39)	M474K	probably benign	Het
Rasgef1a	T	A	6: 118,065,095 (GRCm39)	F370Y	probably damaging	Het
Rassf5	C	A	1: 131,108,911 (GRCm39)	R218L	possibly damaging	Het
Scart1	A	T	7: 139,804,068 (GRCm39)	H422L	probably benign	Het
Serpine2	C	A	1: 79,794,592 (GRCm39)	V114L	probably benign	Het
Serpine2	T	C	1: 79,799,206 (GRCm39)	Y16C	probably benign	Het
Sgms1	G	T	19: 32,137,232 (GRCm39)	N111K	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Tbc1d17	A	T	7: 44,498,292 (GRCm39)	M1K	probably null	Het
Tcf12	A	T	9: 71,776,320 (GRCm39)	H403Q	probably damaging	Het
Thoc2l	T	C	5: 104,667,512 (GRCm39)	I678T	probably damaging	Het
Thsd7b	T	C	1: 129,849,071 (GRCm39)	S928P	probably benign	Het
Tjp1	A	T	7: 64,952,715 (GRCm39)	F1540I	probably damaging	Het
Tph2	T	A	10: 114,915,669 (GRCm39)	D457V	possibly damaging	Het
Usp9y	T	C	Y: 1,314,676 (GRCm39)	I2112V	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zfp335	T	C	2: 164,749,650 (GRCm39)	K249R	probably damaging	Het
Zfp54	C	A	17: 21,654,788 (GRCm39)	S427R	probably benign	Het
Zfp607b	A	G	7: 27,401,813 (GRCm39)	T90A	probably benign	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
R5048:Gje1	UTSW	10	14,593,021 (GRCm39)	missense	probably damaging	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
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'- ACCCGGTCATCGTTTAAAGAG -3'
(R):5'- TTGTAAATTCTCCACGTGTCTTTGG -3'

Sequencing Primer
(F):5'- CCGGTCATCGTTTAAAGAGAAAAC -3'
(R):5'- AATTCTCCACGTGTCTTTGGTTTTTG -3'

Posted On

2016-09-01