Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Gja8'

380703

Institutional Source

Beutler Lab

Gene Symbol

Gja8

Ensembl Gene

ENSMUSG00000049908

Gene Name

gap junction protein, alpha 8

Synonyms

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

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96820882-96833336 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 96826351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143542 (fasta)

Gene Model

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

AlphaFold

P28236

Predicted Effect

unknown
Transcript: ENSMUST00000062944
AA Change: D437V

SMART Domains

Protein: ENSMUSP00000049532
Gene: ENSMUSG00000049908
AA Change: D437V

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

Meta Mutation Damage Score

0.2881

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,276,226 (GRCm39)	E643G	probably damaging	Het
Abca2	T	C	2: 25,334,839 (GRCm39)	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,416 (GRCm39)	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,648,386 (GRCm39)	M478K	probably benign	Het
Akirin1	G	A	4: 123,630,651 (GRCm39)	S191F	probably damaging	Het
Aoc1l3	T	C	6: 48,964,426 (GRCm39)	S145P	probably damaging	Het
Aurkb	T	C	11: 68,938,970 (GRCm39)		probably benign	Het
Cabyr	T	C	18: 12,877,549 (GRCm39)		probably benign	Het
Ccp110	A	G	7: 118,324,542 (GRCm39)	E688G	probably damaging	Het
Champ1	T	A	8: 13,929,137 (GRCm39)	S432T	probably benign	Het
Crybg1	T	A	10: 43,875,209 (GRCm39)	N633I	probably damaging	Het
Dagla	A	T	19: 10,247,079 (GRCm39)		probably null	Het
Dkkl1	A	T	7: 44,860,949 (GRCm39)	L10Q	probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fndc7	G	T	3: 108,783,986 (GRCm39)	Q208K	probably benign	Het
Gins4	A	T	8: 23,724,796 (GRCm39)	C53S	probably damaging	Het
Golph3l	T	A	3: 95,524,734 (GRCm39)	N328K	probably benign	Het
Haus6	A	C	4: 86,503,524 (GRCm39)		probably benign	Het
Hdac5	A	G	11: 102,091,389 (GRCm39)		probably benign	Het
Ide	A	G	19: 37,255,155 (GRCm39)	Y883H	unknown	Het
Igf2r	A	G	17: 12,910,764 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,943,446 (GRCm39)	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,079,063 (GRCm39)		probably null	Het
Lancl1	A	T	1: 67,060,193 (GRCm39)	N77K	probably benign	Het
Lyst	T	A	13: 13,812,349 (GRCm39)	N920K	probably damaging	Het
Lyst	G	A	13: 13,933,963 (GRCm39)	V3554I	probably benign	Het
Map1a	G	A	2: 121,136,386 (GRCm39)	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,384,734 (GRCm39)		probably benign	Het
Myo10	C	A	15: 25,781,204 (GRCm39)	Q154K	probably damaging	Het
Or2a7	C	T	6: 43,151,255 (GRCm39)	L112F	probably benign	Het
Or2h15	A	G	17: 38,441,441 (GRCm39)	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,825,267 (GRCm39)	V753M	probably benign	Het
Pnn	T	A	12: 59,117,013 (GRCm39)	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,540 (GRCm39)	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,855,049 (GRCm39)	D109E	probably benign	Het
Prr15l	G	A	11: 96,825,588 (GRCm39)	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,339 (GRCm39)	F219S	probably benign	Het
Rnpep	C	A	1: 135,194,764 (GRCm39)		probably benign	Het
Ryr1	T	C	7: 28,803,723 (GRCm39)	T643A	probably damaging	Het
Ryr2	A	T	13: 11,960,831 (GRCm39)	C36S	probably damaging	Het
Shc3	G	T	13: 51,596,805 (GRCm39)	T406N	probably benign	Het
Slit3	G	T	11: 35,579,420 (GRCm39)	G1199V	probably damaging	Het
Spata6l	G	T	19: 28,919,175 (GRCm39)	H195N	possibly damaging	Het
Sptbn5	G	A	2: 119,880,601 (GRCm39)		noncoding transcript	Het
St8sia6	T	C	2: 13,670,253 (GRCm39)	N236D	probably damaging	Het
Stpg1	A	T	4: 135,233,727 (GRCm39)	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,742,550 (GRCm39)	I59N	probably damaging	Het
Vmn1r208	T	G	13: 22,956,958 (GRCm39)	I180L	probably benign	Het
Vmn2r51	A	T	7: 9,832,247 (GRCm39)	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,553,402 (GRCm39)	I618N	probably damaging	Het
Wrn	T	C	8: 33,812,371 (GRCm39)	N182S	probably benign	Het
Zfp296	G	T	7: 19,313,637 (GRCm39)	C164F	possibly damaging	Het
Zfp764l1	A	G	7: 126,992,521 (GRCm39)	Y30H	probably damaging	Het
Zmynd8	A	G	2: 165,676,871 (GRCm39)	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,755,571 (GRCm39)	L110P	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGACAGCGCATACAGGTGG -3'
(R):5'- ACAGTTGCAGTGCCAGACAG -3'

Sequencing Primer
(F):5'- GAGAGGCAGTCCCCTAGTTGTAC -3'
(R):5'- CAGGGAGAGAGTAGAGACCCCTG -3'

Posted On

2016-04-15