Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01335:Gja8'

74565

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 #

IGL01335

Quality Score

Status

Chromosome

Chromosomal Location

96820882-96833336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96826558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 368 (Q368R)

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: Q368R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049532
Gene: ENSMUSG00000049908
AA Change: Q368R

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
6820408C15Rik	T	A	2: 152,284,307 (GRCm39)	M300K	possibly damaging	Het
Adamts14	T	A	10: 61,034,460 (GRCm39)	R1143W	possibly damaging	Het
Ankrd28	T	C	14: 31,423,981 (GRCm39)	Y1083C	probably damaging	Het
Anxa8	T	C	14: 33,811,547 (GRCm39)	M34T	probably damaging	Het
Aox1	G	T	1: 58,121,312 (GRCm39)	E928*	probably null	Het
Atp8b5	T	A	4: 43,302,628 (GRCm39)	F50L	possibly damaging	Het
Brpf1	A	G	6: 113,296,298 (GRCm39)	S863G	probably damaging	Het
Cdc42bpb	A	G	12: 111,260,530 (GRCm39)		probably benign	Het
Cdh6	C	T	15: 13,051,395 (GRCm39)	A413T	probably benign	Het
Cfap96	A	T	8: 46,426,642 (GRCm39)		probably benign	Het
Cfap97	A	G	8: 46,623,492 (GRCm39)	Q294R	probably damaging	Het
Cit	C	T	5: 116,046,889 (GRCm39)		probably benign	Het
Dmbt1	A	G	7: 130,690,497 (GRCm39)	Y736C	possibly damaging	Het
Eno2	C	T	6: 124,743,618 (GRCm39)	G107E	probably damaging	Het
Gm3633	T	A	14: 42,462,595 (GRCm39)		probably benign	Het
Gm4987	A	T	X: 45,544,755 (GRCm39)		noncoding transcript	Het
Gna13	G	A	11: 109,256,569 (GRCm39)	R164Q	probably damaging	Het
Grhl1	A	T	12: 24,658,057 (GRCm39)	E351D	probably damaging	Het
Idua	A	G	5: 108,828,737 (GRCm39)	Q280R	probably benign	Het
Igsf5	T	A	16: 96,174,353 (GRCm39)		probably benign	Het
Mrpl52	T	C	14: 54,664,656 (GRCm39)	Y39H	probably damaging	Het
Naa16	A	T	14: 79,582,556 (GRCm39)		probably benign	Het
Naa35	T	A	13: 59,764,610 (GRCm39)	L338Q	probably damaging	Het
Nat8l	A	T	5: 34,155,791 (GRCm39)	Y149F	probably benign	Het
Nck1	A	T	9: 100,379,790 (GRCm39)	W154R	probably damaging	Het
Ncoa1	A	T	12: 4,347,520 (GRCm39)	S351R	probably benign	Het
Or10w1	A	T	19: 13,632,540 (GRCm39)	H249L	probably damaging	Het
Or12e10	A	T	2: 87,640,790 (GRCm39)	T209S	probably damaging	Het
Or6c8b	T	C	10: 128,882,380 (GRCm39)	K184R	probably benign	Het
Or8k1	A	T	2: 86,047,916 (GRCm39)	L46Q	probably damaging	Het
Pacs1	A	T	19: 5,192,660 (GRCm39)	V624E	probably damaging	Het
Pde6b	G	A	5: 108,571,379 (GRCm39)	R444H	probably benign	Het
Pigk	A	T	3: 152,448,173 (GRCm39)	T226S	probably benign	Het
Prkdc	T	C	16: 15,634,760 (GRCm39)		probably null	Het
Ptbp1	G	A	10: 79,698,708 (GRCm39)		probably null	Het
Pyroxd1	T	C	6: 142,307,484 (GRCm39)	V418A	probably damaging	Het
Rhot1	A	T	11: 80,141,055 (GRCm39)	D421V	probably damaging	Het
Rimkla	T	C	4: 119,335,156 (GRCm39)	T76A	possibly damaging	Het
Rtn1	A	G	12: 72,355,124 (GRCm39)	V274A	probably benign	Het
Tatdn2	T	A	6: 113,681,017 (GRCm39)	M289K	probably benign	Het
Trak1	A	G	9: 121,283,382 (GRCm39)	T476A	possibly damaging	Het
Ube2i	C	A	17: 25,488,410 (GRCm39)	Q11H	probably damaging	Het
Ugt2a3	A	T	5: 87,484,644 (GRCm39)	C127S	probably damaging	Het
Uimc1	T	A	13: 55,182,724 (GRCm39)	Q619L	probably benign	Het
Upk3a	T	A	15: 84,903,786 (GRCm39)	Y162N	probably damaging	Het
Usp33	T	C	3: 152,097,854 (GRCm39)	S849P	probably damaging	Het
Vmn2r120	G	A	17: 57,832,732 (GRCm39)	T149I	possibly damaging	Het
Vmn2r15	G	A	5: 109,434,602 (GRCm39)	P701S	possibly damaging	Het
Vmn2r28	T	C	7: 5,484,087 (GRCm39)	I704M	possibly damaging	Het
Wdhd1	T	C	14: 47,488,239 (GRCm39)	E756G	possibly damaging	Het
Xlr3c	C	A	X: 72,303,639 (GRCm39)	V102F	probably benign	Het
Zfp384	T	G	6: 125,002,016 (GRCm39)	D220E	probably benign	Het
Zfp521	A	T	18: 13,977,776 (GRCm39)	V879E	probably benign	Het

Other mutations in Gja8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02114:Gja8	APN	3	96,827,341 (GRCm39)	missense	probably benign	0.00
IGL02237:Gja8	APN	3	96,827,249 (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

2013-10-07