Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02237:Gja8'

285910

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gja8

Ensembl Gene

ENSMUSG00000049908

Gene Name

gap junction protein, alpha 8

Synonyms

Cnx50, connexin 50, dcm, Cx50, Lop10, alpha 8 connexin, Aey5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02237

Quality Score

Status

Chromosome

Chromosomal Location

96820882-96833336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 96827249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 138 (S138R)

Ref Sequence

ENSEMBL: ENSMUSP00000049532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062944] [ENSMUST00000199597]

AlphaFold

P28236

Predicted Effect

probably benign
Transcript: ENSMUST00000062944
AA Change: S138R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000049532
Gene: ENSMUSG00000049908
AA Change: S138R

Domain	Start	End	E-Value	Type
CNX	43	76	1.76e-20	SMART
low complexity region	134	147	N/A	INTRINSIC
Connexin_CCC	168	234	2.8e-41	SMART
Pfam:Connexin50	267	333	7.3e-35	PFAM
low complexity region	337	355	N/A	INTRINSIC
low complexity region	423	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199597

SMART Domains

Protein: ENSMUSP00000143542
Gene: ENSMUSG00000057123

Domain	Start	End	E-Value	Type
CNX	43	76	3.47e-19	SMART
Connexin_CCC	163	229	2.45e-37	SMART
Pfam:Connexin40_C	257	358	2.4e-33	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous mutants exhibit microphthalmia, with small lenses and nuclear or total cataracts. Heterozygotes may be equally or less affected, depending on the particular mutation and the genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	T	A	2: 181,135,350 (GRCm39)	V84E	probably benign	Het
Adam39	A	T	8: 41,278,482 (GRCm39)	E291V	probably benign	Het
Ak5	T	A	3: 152,204,980 (GRCm39)	D372V	probably benign	Het
Brpf1	C	T	6: 113,287,336 (GRCm39)	P188L	probably damaging	Het
Cacna2d3	C	T	14: 29,068,954 (GRCm39)	V258I	probably benign	Het
Cd14	A	G	18: 36,858,912 (GRCm39)	F181S	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cts6	A	T	13: 61,345,313 (GRCm39)	D261E	probably benign	Het
Daam1	A	G	12: 72,029,495 (GRCm39)	T897A	probably benign	Het
Ddx25	T	A	9: 35,453,365 (GRCm39)		probably benign	Het
Ddx55	A	G	5: 124,705,958 (GRCm39)	E461G	probably damaging	Het
Degs1	T	C	1: 182,107,253 (GRCm39)	K2R	probably damaging	Het
Drc7	C	T	8: 95,799,507 (GRCm39)	L561F	probably damaging	Het
Eif4enif1	A	T	11: 3,177,876 (GRCm39)	K423*	probably null	Het
Epha7	A	G	4: 28,949,325 (GRCm39)		probably null	Het
Erich5	A	C	15: 34,471,482 (GRCm39)	E237A	probably benign	Het
Ficd	A	G	5: 113,876,373 (GRCm39)	T183A	probably damaging	Het
Foxb2	T	C	19: 16,850,908 (GRCm39)	M33V	unknown	Het
Gm28042	T	G	2: 119,870,380 (GRCm39)	L743V	possibly damaging	Het
Gtf3c2	A	T	5: 31,316,397 (GRCm39)		probably benign	Het
Itga11	T	C	9: 62,663,057 (GRCm39)		probably null	Het
Kazn	A	T	4: 141,874,410 (GRCm39)	D315E	probably benign	Het
Kbtbd2	A	T	6: 56,756,033 (GRCm39)	S568T	possibly damaging	Het
Man1c1	A	C	4: 134,311,609 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,670,854 (GRCm39)	S463P	probably benign	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Oog2	T	A	4: 143,923,016 (GRCm39)	F427Y	possibly damaging	Het
Pcmtd1	T	C	1: 7,233,601 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,188,818 (GRCm39)	D2861Y	probably damaging	Het
Pdzd7	C	T	19: 45,028,697 (GRCm39)	A149T	probably damaging	Het
Pebp4	A	T	14: 70,297,105 (GRCm39)	T215S	possibly damaging	Het
Pgm1	T	C	4: 99,820,707 (GRCm39)		probably benign	Het
Plekhh2	T	A	17: 84,883,213 (GRCm39)	D760E	probably benign	Het
Pomt1	T	C	2: 32,135,689 (GRCm39)	I351T	probably benign	Het
Ptpn21	C	T	12: 98,671,351 (GRCm39)		probably null	Het
Rsad2	T	G	12: 26,506,186 (GRCm39)	Y78S	probably damaging	Het
Rsbn1l	A	T	5: 21,124,604 (GRCm39)	N399K	probably benign	Het
Sec31a	A	G	5: 100,509,914 (GRCm39)	V1191A	probably damaging	Het
Sema6c	C	T	3: 95,077,430 (GRCm39)	P414L	probably damaging	Het
Serpinb5	T	C	1: 106,808,056 (GRCm39)	S69P	probably benign	Het
Slc25a13	C	T	6: 6,042,646 (GRCm39)	R586H	probably damaging	Het
Spink5	T	A	18: 44,145,934 (GRCm39)	M776K	probably benign	Het
Srcap	A	G	7: 127,133,864 (GRCm39)		probably benign	Het
Stt3a	G	A	9: 36,660,933 (GRCm39)	Q293*	probably null	Het
Syne4	T	A	7: 30,015,988 (GRCm39)		probably null	Het
Tomm40l	C	T	1: 171,048,463 (GRCm39)	V97M	possibly damaging	Het
Trpc4	C	T	3: 54,129,783 (GRCm39)	S183F	probably damaging	Het
Ttn	C	T	2: 76,716,478 (GRCm39)		probably benign	Het
Ufl1	A	C	4: 25,269,082 (GRCm39)	S170A	probably benign	Het
Vmn2r66	G	A	7: 84,643,908 (GRCm39)	T834I	probably benign	Het
Vmn2r75	A	G	7: 85,814,786 (GRCm39)	S236P	possibly damaging	Het
Zfp345	A	T	2: 150,316,805 (GRCm39)		probably benign	Het
Zfp955b	T	C	17: 33,520,893 (GRCm39)	S121P	probably damaging	Het

Other mutations in Gja8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Gja8	APN	3	96,826,558 (GRCm39)	missense	probably benign
IGL02114:Gja8	APN	3	96,827,341 (GRCm39)	missense	probably benign	0.00
IGL03204:Gja8	APN	3	96,827,408 (GRCm39)	missense	probably damaging	1.00
guidance	UTSW	3	96,826,740 (GRCm39)	missense	probably benign	0.00
L1	UTSW	3	96,827,513 (GRCm39)	missense	probably damaging	1.00
prediction	UTSW	3	96,826,664 (GRCm39)	missense	possibly damaging	0.64
R1024:Gja8	UTSW	3	96,826,740 (GRCm39)	missense	probably benign	0.00
R2215:Gja8	UTSW	3	96,827,218 (GRCm39)	missense	probably damaging	0.98
R2240:Gja8	UTSW	3	96,827,618 (GRCm39)	missense	probably benign	0.05
R2510:Gja8	UTSW	3	96,827,033 (GRCm39)	missense	probably damaging	1.00
R2511:Gja8	UTSW	3	96,827,033 (GRCm39)	missense	probably damaging	1.00
R2926:Gja8	UTSW	3	96,826,469 (GRCm39)	missense	probably benign	0.00
R3725:Gja8	UTSW	3	96,827,161 (GRCm39)	missense	probably damaging	1.00
R4090:Gja8	UTSW	3	96,826,468 (GRCm39)	missense	probably benign	0.00
R4933:Gja8	UTSW	3	96,826,351 (GRCm39)	intron	probably benign
R5010:Gja8	UTSW	3	96,827,165 (GRCm39)	missense	probably benign	0.24
R5497:Gja8	UTSW	3	96,827,513 (GRCm39)	missense	probably damaging	1.00
R5532:Gja8	UTSW	3	96,827,648 (GRCm39)	missense	probably benign	0.39
R6997:Gja8	UTSW	3	96,826,657 (GRCm39)	missense	probably benign
R7381:Gja8	UTSW	3	96,827,338 (GRCm39)	missense	probably benign
R7576:Gja8	UTSW	3	96,827,209 (GRCm39)	missense	probably benign	0.05
R7792:Gja8	UTSW	3	96,827,092 (GRCm39)	missense	probably damaging	1.00
R7827:Gja8	UTSW	3	96,827,635 (GRCm39)	missense	possibly damaging	0.52
R8444:Gja8	UTSW	3	96,826,990 (GRCm39)	missense	probably damaging	1.00
R9016:Gja8	UTSW	3	96,827,521 (GRCm39)	missense	probably damaging	1.00
R9081:Gja8	UTSW	3	96,826,676 (GRCm39)	missense	probably damaging	1.00
R9230:Gja8	UTSW	3	96,826,664 (GRCm39)	missense	possibly damaging	0.64
Z1177:Gja8	UTSW	3	96,827,552 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16