Mutagenetix > Incidental Mutation

Incidental Mutation 'R2215:Gja8'

241070

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

040217-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96820882-96833336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96827218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 148 (F148Y)

Ref Sequence

ENSEMBL: ENSMUSP00000049532 (fasta)

Gene Model

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

AlphaFold

P28236

Predicted Effect

probably damaging
Transcript: ENSMUST00000062944
AA Change: F148Y

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049532
Gene: ENSMUSG00000049908
AA Change: F148Y

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

0.1187

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,254,619 (GRCm39)	S1899T	probably damaging	Het
Accs	G	T	2: 93,672,243 (GRCm39)	N208K	probably benign	Het
Actn4	C	A	7: 28,618,178 (GRCm39)	V22L	possibly damaging	Het
Adam21	A	G	12: 81,607,064 (GRCm39)	S233P	probably damaging	Het
Adrm1b	G	A	3: 92,335,730 (GRCm39)	A324V	probably damaging	Het
Agmat	C	T	4: 141,476,899 (GRCm39)	R102C	probably benign	Het
Akap8l	T	C	17: 32,540,569 (GRCm39)	E608G	possibly damaging	Het
Arap2	T	C	5: 62,834,519 (GRCm39)	I788V	probably damaging	Het
Arhgef12	G	T	9: 42,917,167 (GRCm39)	H391N	probably damaging	Het
Arhgef28	G	T	13: 98,187,529 (GRCm39)	H255Q	possibly damaging	Het
Baz1a	G	A	12: 55,022,154 (GRCm39)	R43*	probably null	Het
Bcas3	T	C	11: 85,692,769 (GRCm39)	S862P	probably damaging	Het
Blm	A	T	7: 80,149,595 (GRCm39)	H671Q	possibly damaging	Het
Bmp8a	C	T	4: 123,218,911 (GRCm39)	V166I	probably benign	Het
Cep120	G	T	18: 53,860,707 (GRCm39)	P241Q	probably damaging	Het
Col14a1	G	A	15: 55,244,238 (GRCm39)	G437E	unknown	Het
Cyp2a5	T	C	7: 26,539,900 (GRCm39)	L3S	probably damaging	Het
D16Ertd472e	T	C	16: 78,342,155 (GRCm39)	T242A	probably benign	Het
Dach1	A	G	14: 98,405,917 (GRCm39)		probably null	Het
Ddx20	A	T	3: 105,587,656 (GRCm39)		probably benign	Het
Eif4enif1	A	G	11: 3,177,476 (GRCm39)	S185G	probably damaging	Het
Ep400	A	T	5: 110,841,421 (GRCm39)		probably benign	Het
Fam117b	T	A	1: 60,008,219 (GRCm39)	I351K	probably damaging	Het
Fbxo31	T	C	8: 122,293,050 (GRCm39)	I112V	probably benign	Het
Galntl5	A	T	5: 25,403,476 (GRCm39)	N149I	probably damaging	Het
Gpatch1	A	T	7: 34,993,252 (GRCm39)	L531Q	possibly damaging	Het
Gprin1	G	A	13: 54,888,046 (GRCm39)	T76M	probably damaging	Het
Htr4	T	A	18: 62,546,787 (GRCm39)	C113*	probably null	Het
Igf1r	T	A	7: 67,814,982 (GRCm39)	D294E	probably benign	Het
Kdm6b	G	A	11: 69,295,870 (GRCm39)	P799L	unknown	Het
Lat	A	T	7: 125,967,137 (GRCm39)	V139E	probably damaging	Het
Lrrc34	G	A	3: 30,697,678 (GRCm39)	R51C	probably benign	Het
Map3k1	A	G	13: 111,892,322 (GRCm39)	S978P	probably benign	Het
Masp1	T	A	16: 23,271,271 (GRCm39)	D659V	possibly damaging	Het
Mcam	A	T	9: 44,051,250 (GRCm39)	R415*	probably null	Het
Mtmr10	A	G	7: 63,987,403 (GRCm39)	T648A	probably benign	Het
Myh2	T	C	11: 67,082,563 (GRCm39)	W1378R	probably benign	Het
Nipsnap2	A	G	5: 129,816,649 (GRCm39)	E64G	probably damaging	Het
Or4a68	T	C	2: 89,270,381 (GRCm39)	M81V	probably benign	Het
Or52n4b	T	C	7: 108,144,095 (GRCm39)	L119P	probably damaging	Het
Or6c3	A	T	10: 129,309,289 (GRCm39)	I243F	probably damaging	Het
Or9s27	G	A	1: 92,516,708 (GRCm39)	V219I	probably benign	Het
Pcdhb8	T	G	18: 37,490,127 (GRCm39)	S602A	probably damaging	Het
Peg10	A	T	6: 4,756,918 (GRCm39)		probably benign	Het
Pld1	A	T	3: 28,132,542 (GRCm39)	I577F	probably benign	Het
Plekhm1	A	T	11: 103,267,811 (GRCm39)	I720N	probably damaging	Het
Ppp2r1a	A	G	17: 21,182,005 (GRCm39)		probably null	Het
Retreg3	G	T	11: 101,010,459 (GRCm39)	Y49*	probably null	Het
Rrp36	T	C	17: 46,983,746 (GRCm39)	E22G	possibly damaging	Het
Sec14l2	C	A	11: 4,059,169 (GRCm39)	A167S	probably damaging	Het
Sema5b	A	G	16: 35,480,585 (GRCm39)	T751A	probably damaging	Het
Smarcc1	C	A	9: 110,066,907 (GRCm39)		probably benign	Het
Smox	T	C	2: 131,362,190 (GRCm39)		probably null	Het
Spats2l	A	T	1: 57,985,575 (GRCm39)	T543S	possibly damaging	Het
Sppl2a	G	T	2: 126,769,754 (GRCm39)	T34K	probably benign	Het
Svep1	T	C	4: 58,138,602 (GRCm39)		probably benign	Het
Tet2	T	A	3: 133,192,362 (GRCm39)	I691F	probably benign	Het
Tnxb	T	C	17: 34,923,114 (GRCm39)	Y2566H	possibly damaging	Het
Ttn	T	C	2: 76,570,853 (GRCm39)	E26680G	probably damaging	Het
Txlna	T	C	4: 129,533,111 (GRCm39)	E139G	possibly damaging	Het
Ubap2	T	C	4: 41,196,483 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,809,661 (GRCm39)		probably null	Het
Usp37	A	C	1: 74,483,685 (GRCm39)	F844V	probably damaging	Het
Usp6nl	A	G	2: 6,429,150 (GRCm39)	D204G	probably damaging	Het
Vmn1r230	T	C	17: 21,067,684 (GRCm39)	I291T	probably benign	Het
Zfp229	T	G	17: 21,965,258 (GRCm39)	V496G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GATGGTCTTCTCAGTAGGCC -3'
(R):5'- TGGGTGCTGCAGATCATCTTC -3'

Sequencing Primer
(F):5'- TCTTCTCAGTAGGCCGGGATAC -3'
(R):5'- ACTCCATCGCTGATGTACGTGG -3'

Posted On

2014-10-15