Mutagenetix > Incidental Mutation

Incidental Mutation 'R5421:Gje1'

426578

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R5421 (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: 98.5%
10x: 97.1%
20x: 94.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	T	15: 74,421,876 (GRCm39)	Q882L	probably damaging	Het
Afdn	T	C	17: 14,052,668 (GRCm39)	V525A	probably benign	Het
AI987944	T	C	7: 41,024,200 (GRCm39)	T263A	probably benign	Het
Aldh1l2	T	C	10: 83,363,271 (GRCm39)	S31G	probably damaging	Het
Asxl1	T	C	2: 153,241,504 (GRCm39)	S685P	probably benign	Het
Blnk	C	A	19: 40,956,967 (GRCm39)	V47F	probably damaging	Het
Bmp4	T	A	14: 46,623,355 (GRCm39)	M64L	probably damaging	Het
Bmpr2	T	A	1: 59,909,577 (GRCm39)	V1017E	possibly damaging	Het
C1ra	C	T	6: 124,499,749 (GRCm39)	P645L	probably benign	Het
Cadm2	A	T	16: 66,568,513 (GRCm39)	C248*	probably null	Het
Cdk6	T	C	5: 3,523,120 (GRCm39)	V180A	probably damaging	Het
Colec12	A	T	18: 9,858,580 (GRCm39)	R454S	probably damaging	Het
Dennd3	T	C	15: 73,438,964 (GRCm39)	S1111P	probably benign	Het
Dmxl1	T	C	18: 49,996,186 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,326,462 (GRCm39)	T3613I	probably damaging	Het
Elp6	A	G	9: 110,143,132 (GRCm39)	Q115R	probably benign	Het
Enpp1	A	G	10: 24,545,655 (GRCm39)	Y262H	probably damaging	Het
Far2	A	G	6: 148,047,690 (GRCm39)		probably null	Het
Flnb	C	T	14: 7,926,494 (GRCm38)	T1846I	probably damaging	Het
Folr2	C	T	7: 101,489,851 (GRCm39)	R139H	probably benign	Het
Fxn	A	T	19: 24,254,649 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,747,908 (GRCm39)	N263T	probably damaging	Het
Htr5a	G	T	5: 28,055,985 (GRCm39)	W325C	possibly damaging	Het
Itga4	T	A	2: 79,146,385 (GRCm39)	Y772*	probably null	Het
Kif12	T	C	4: 63,089,665 (GRCm39)	S59G	probably benign	Het
Kifc3	C	T	8: 95,836,473 (GRCm39)	R96Q	probably damaging	Het
Klrd1	T	C	6: 129,575,406 (GRCm39)	Y191H	probably damaging	Het
Ndst3	A	T	3: 123,428,008 (GRCm39)		probably null	Het
Nek1	A	C	8: 61,459,711 (GRCm39)	R6S	possibly damaging	Het
Or4b13	G	A	2: 90,083,089 (GRCm39)	T81I	probably benign	Het
Or5p68	G	C	7: 107,946,182 (GRCm39)	A2G	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,861 (GRCm39)	R260*	probably null	Het
Palld	C	T	8: 61,969,584 (GRCm39)	E1005K	probably damaging	Het
Ppp2r1a	T	A	17: 21,176,968 (GRCm39)	Y169N	probably benign	Het
Rad50	T	C	11: 53,565,773 (GRCm39)	D960G	probably benign	Het
Rad51ap2	A	T	12: 11,509,368 (GRCm39)	K915*	probably null	Het
Rasal2	T	C	1: 157,126,711 (GRCm39)	K109R	probably benign	Het
Rc3h1	G	A	1: 160,779,400 (GRCm39)		probably null	Het
Rnf6	C	T	5: 146,147,339 (GRCm39)	V560I	probably benign	Het
Samd8	A	G	14: 21,842,563 (GRCm39)	D295G	probably damaging	Het
Scart1	T	C	7: 139,803,813 (GRCm39)	L337P	probably damaging	Het
Serpinb2	T	C	1: 107,451,581 (GRCm39)	Y245H	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc28a3	A	T	13: 58,722,079 (GRCm39)	F268L	possibly damaging	Het
Slc7a14	T	C	3: 31,278,346 (GRCm39)	T420A	probably damaging	Het
Speer4f2	A	T	5: 17,579,356 (GRCm39)	T52S	possibly damaging	Het
Spta1	A	G	1: 174,043,095 (GRCm39)	N1414D	probably damaging	Het
Sptbn5	A	G	2: 119,911,261 (GRCm39)		noncoding transcript	Het
Syt9	T	C	7: 107,024,563 (GRCm39)	V152A	probably benign	Het
Thoc2l	A	T	5: 104,666,261 (GRCm39)	N261I	probably benign	Het
Tln1	G	A	4: 43,533,609 (GRCm39)	A2315V	possibly damaging	Het
Tox	C	A	4: 6,842,409 (GRCm39)	M40I	possibly damaging	Het
Ucp1	G	A	8: 84,017,320 (GRCm39)	A37T	probably benign	Het
Vapa	A	G	17: 65,902,031 (GRCm39)	V33A	possibly damaging	Het
Vmn2r110	A	G	17: 20,803,882 (GRCm39)	L231S	probably damaging	Het
Vmn2r15	C	T	5: 109,434,401 (GRCm39)	A768T	probably damaging	Het
Vmn2r86	T	C	10: 130,282,805 (GRCm39)	T604A	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnk1	A	G	6: 119,929,779 (GRCm39)	V1246A	probably damaging	Het
Wwc1	C	T	11: 35,801,123 (GRCm39)	E105K	possibly damaging	Het
Wwc1	T	G	11: 35,766,890 (GRCm39)	D455A	possibly damaging	Het
Zfp426	G	A	9: 20,382,015 (GRCm39)	A309V	probably damaging	Het
Zfp626	T	A	7: 27,517,335 (GRCm39)	N105K	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
R5048:Gje1	UTSW	10	14,593,021 (GRCm39)	missense	probably damaging	1.00
R5104:Gje1	UTSW	10	14,592,462 (GRCm39)	nonsense	probably null
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'- ACCCGGTCATCGTTTAAAGAG -3'
(R):5'- TGTAAATTCTCCACGTGTCTTTGG -3'

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

Posted On

2016-09-01