Mutagenetix > Incidental Mutation

Incidental Mutation 'R6997:Gja8'

544270

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

045103-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96820882-96833336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96826657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 335 (V335A)

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: V335A

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

SMART Domains

Protein: ENSMUSP00000049532
Gene: ENSMUSG00000049908
AA Change: V335A

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (58/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,171,539 (GRCm39)	Y764C	probably benign	Het
Atxn1	C	T	13: 45,721,095 (GRCm39)	V267M	probably benign	Het
Cadps	T	A	14: 12,505,793 (GRCm38)	H759L	possibly damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Caprin2	A	G	6: 148,779,474 (GRCm39)	L111P	probably damaging	Het
Ccl8	A	T	11: 82,006,865 (GRCm39)	D26V	possibly damaging	Het
Cdh19	T	C	1: 110,882,596 (GRCm39)		probably benign	Het
Cnga3	C	A	1: 37,283,965 (GRCm39)	H89Q	probably benign	Het
Cnga4	A	T	7: 105,056,190 (GRCm39)	Q264L	probably damaging	Het
Coil	A	G	11: 88,872,673 (GRCm39)	T345A	probably benign	Het
Cyp11b2	A	G	15: 74,723,281 (GRCm39)	L461P	probably damaging	Het
Dock2	T	C	11: 34,414,922 (GRCm39)	E151G	probably damaging	Het
Dsc1	C	T	18: 20,219,701 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,168,743 (GRCm39)	C357S	probably null	Het
Ebf3	A	C	7: 136,826,994 (GRCm39)	I306R	probably damaging	Het
Eprs1	A	G	1: 185,128,360 (GRCm39)	H580R	possibly damaging	Het
Ermap	A	T	4: 119,035,810 (GRCm39)	F393I	probably damaging	Het
Flii	T	C	11: 60,613,151 (GRCm39)	T217A	probably benign	Het
Fras1	C	T	5: 96,762,732 (GRCm39)	Q745*	probably null	Het
Gm21560	A	T	14: 6,218,333 (GRCm38)	N48K	probably damaging	Het
Gpr158	C	T	2: 21,653,802 (GRCm39)	T457I	possibly damaging	Het
Kcnv1	A	T	15: 44,977,997 (GRCm39)	S14T	unknown	Het
Lamb2	T	C	9: 108,358,496 (GRCm39)	Y178H	probably damaging	Het
Lamc2	G	A	1: 153,012,508 (GRCm39)	T722M	probably benign	Het
Map1b	T	C	13: 99,567,142 (GRCm39)	T1860A	unknown	Het
Map2k7	T	C	8: 4,294,035 (GRCm39)	Y194H	possibly damaging	Het
Map4	T	A	9: 109,881,982 (GRCm39)	M282K	probably benign	Het
Mmp10	A	G	9: 7,503,531 (GRCm39)	I134V	probably benign	Het
Mrtfa	G	T	15: 80,902,649 (GRCm39)	S220*	probably null	Het
Msh5	A	T	17: 35,248,978 (GRCm39)	L685Q	probably damaging	Het
Myh1	T	A	11: 67,111,463 (GRCm39)	I1634N	possibly damaging	Het
Myh13	C	T	11: 67,217,980 (GRCm39)	R18*	probably null	Het
Myo3b	A	T	2: 69,957,329 (GRCm39)	I185L	probably damaging	Het
Ninl	G	T	2: 150,808,145 (GRCm39)	H294Q	probably benign	Het
Or4a79	G	A	2: 89,552,269 (GRCm39)	A62V	possibly damaging	Het
Or51b17	A	T	7: 103,542,238 (GRCm39)	S235T	probably benign	Het
Or8b44	T	C	9: 38,410,607 (GRCm39)	I214T	possibly damaging	Het
Orm3	T	A	4: 63,275,180 (GRCm39)	L97Q	probably damaging	Het
Osbpl1a	T	C	18: 12,889,281 (GRCm39)	N432S	probably benign	Het
Pikfyve	T	A	1: 65,285,822 (GRCm39)	D1020E	probably damaging	Het
Pxk	T	A	14: 8,122,371 (GRCm38)	D60E	probably benign	Het
Rack1	T	A	11: 48,694,752 (GRCm39)	V198E	probably damaging	Het
Ripk1	C	T	13: 34,201,100 (GRCm39)	A271V	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr2	G	T	13: 11,669,266 (GRCm39)	H3513N	possibly damaging	Het
Scn7a	A	T	2: 66,534,147 (GRCm39)	D509E	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sfxn5	A	G	6: 85,233,414 (GRCm39)	V181A	probably benign	Het
Slc5a4b	C	T	10: 75,925,812 (GRCm39)	A198T	probably damaging	Het
Sp2	C	T	11: 96,848,552 (GRCm39)	R357H	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tnfrsf11b	G	A	15: 54,115,770 (GRCm39)	L276F	probably damaging	Het
Usp37	A	G	1: 74,493,118 (GRCm39)	V723A	probably benign	Het
Usp45	G	T	4: 21,781,844 (GRCm39)	R36I	probably damaging	Het
Vcan	T	C	13: 89,838,737 (GRCm39)	D2269G	probably damaging	Het
Vmn2r18	T	A	5: 151,485,338 (GRCm39)	M719L	possibly damaging	Het
Vmn2r52	C	T	7: 9,902,998 (GRCm39)	G477R	probably benign	Het
Vmn2r60	C	A	7: 41,791,716 (GRCm39)	N546K	probably benign	Het
Wnt8b	G	A	19: 44,500,280 (GRCm39)	C289Y	probably damaging	Het
Zdbf2	T	G	1: 63,329,925 (GRCm39)	M10R	probably benign	Het
Zfp945	T	A	17: 23,071,543 (GRCm39)	K140*	probably null	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
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
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'- GGTTACCTTTTCAGCTTGCAGC -3'
(R):5'- TCCATCCAGAAAGCCAAGGG -3'

Sequencing Primer
(F):5'- GCTTGCAGCTCTTCTTTCTCATC -3'
(R):5'- CAAGGGCTACCAGCTTCTAG -3'

Posted On

2019-05-13