Mutagenetix > Incidental Mutation

Incidental Mutation 'R5808:Gja1'

448846

Institutional Source

Beutler Lab

Gene Symbol

Gja1

Ensembl Gene

ENSMUSG00000050953

Gene Name

gap junction protein, alpha 1

Synonyms

Gja-1, Cnx43, Cx43, connexin43, alpha 1 connexin, Cx43alpha1, connexin 43

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56253297-56266519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56264594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 318 (N318D)

Ref Sequence

ENSEMBL: ENSMUSP00000151620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068581] [ENSMUST00000217789] [ENSMUST00000218444] [ENSMUST00000218834] [ENSMUST00000220069] [ENSMUST00000220194]

AlphaFold

P23242

Predicted Effect

probably benign
Transcript: ENSMUST00000068581
AA Change: N318D

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000064536
Gene: ENSMUSG00000050953
AA Change: N318D

Domain	Start	End	E-Value	Type
CNX	43	76	5.34e-20	SMART
low complexity region	102	114	N/A	INTRINSIC
Connexin_CCC	165	231	5.06e-39	SMART
Pfam:Connexin43	293	312	5e-14	PFAM
low complexity region	362	377	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217789

Predicted Effect

probably benign
Transcript: ENSMUST00000218444

Predicted Effect

probably benign
Transcript: ENSMUST00000218834

Predicted Effect

probably benign
Transcript: ENSMUST00000220069
AA Change: N318D

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000220194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220204

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
PHENOTYPE: Mutant homozygotes are neonatal lethal with heart and outflow tract malformations, eye lens anomalies, and male germ cell deficiency. Conditional deletion in ovary affects follicular development, in astrocytes enhances locomotor activity, and in neural cells produces behavioral and neural defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,286,482 (GRCm39)	R6W	probably damaging	Het
Ahnak	T	A	19: 8,987,599 (GRCm39)	V2961E	possibly damaging	Het
Aldh1a7	A	T	19: 20,685,561 (GRCm39)	Y330N	possibly damaging	Het
Bag6	A	G	17: 35,365,298 (GRCm39)	Y1041C	probably damaging	Het
Baz1b	T	A	5: 135,250,812 (GRCm39)	V866E	probably benign	Het
Bmpr2	A	T	1: 59,906,560 (GRCm39)	Y551F	probably benign	Het
Cage1	A	G	13: 38,206,301 (GRCm39)		probably benign	Het
Caskin2	G	T	11: 115,692,589 (GRCm39)	P732Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,359,746 (GRCm39)		probably null	Het
Ccdc162	A	T	10: 41,531,500 (GRCm39)	M502K	possibly damaging	Het
Cfap157	T	C	2: 32,670,657 (GRCm39)	D197G	probably damaging	Het
CN725425	T	A	15: 91,129,847 (GRCm39)	S237T	probably benign	Het
Defb40	T	C	8: 19,025,095 (GRCm39)	H37R	probably benign	Het
Dis3l2	A	C	1: 86,977,360 (GRCm39)	S836R	possibly damaging	Het
Dnah14	T	C	1: 181,568,724 (GRCm39)	I2818T	possibly damaging	Het
Dpysl2	T	A	14: 67,102,621 (GRCm39)		probably null	Het
Dsc1	A	T	18: 20,219,886 (GRCm39)	C761*	probably null	Het
Dsg1b	A	T	18: 20,541,782 (GRCm39)	D763V	probably damaging	Het
Eif2ak1	C	T	5: 143,820,812 (GRCm39)	P251L	probably benign	Het
Epha6	A	T	16: 59,503,105 (GRCm39)	I934K	probably damaging	Het
Fbxo40	T	C	16: 36,790,744 (GRCm39)	E122G	probably damaging	Het
Filip1	C	T	9: 79,725,983 (GRCm39)	G879R	possibly damaging	Het
Frem2	A	T	3: 53,559,984 (GRCm39)	F1508I	probably damaging	Het
Gm11564	T	C	11: 99,705,867 (GRCm39)	S188G	unknown	Het
Hlcs	A	G	16: 94,063,491 (GRCm39)	V523A	probably benign	Het
Kif1a	C	A	1: 92,970,420 (GRCm39)	E1041D	probably damaging	Het
Lamtor1	A	G	7: 101,559,289 (GRCm39)	Y81C	possibly damaging	Het
Loxl1	A	G	9: 58,201,732 (GRCm39)	L453S	probably damaging	Het
Mcf2l	A	G	8: 13,043,937 (GRCm39)	M1V	probably null	Het
Megf6	A	G	4: 154,352,119 (GRCm39)	Q1208R	probably benign	Het
Morc2a	T	A	11: 3,633,781 (GRCm39)	I631N	probably benign	Het
Muc6	T	C	7: 141,226,360 (GRCm39)		probably benign	Het
Mybpc1	T	C	10: 88,406,428 (GRCm39)	S139G	possibly damaging	Het
Myo18a	T	C	11: 77,720,127 (GRCm39)	F1017L	probably benign	Het
Nup62	A	C	7: 44,479,416 (GRCm39)	Q477P	possibly damaging	Het
P2ry13	T	A	3: 59,117,653 (GRCm39)	I42F	probably benign	Het
Ptprb	G	A	10: 116,175,392 (GRCm39)	R1129K	probably benign	Het
Rexo4	T	A	2: 26,854,197 (GRCm39)	K45I	probably damaging	Het
Rnf213	G	A	11: 119,327,121 (GRCm39)	V1703I	probably benign	Het
Sec23ip	C	A	7: 128,373,908 (GRCm39)	A710E	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc41a2	T	C	10: 83,149,362 (GRCm39)	T194A	probably benign	Het
Slc4a10	G	A	2: 62,080,816 (GRCm39)	A348T	probably damaging	Het
Soat2	G	A	15: 102,062,460 (GRCm39)		probably null	Het
Srms	T	C	2: 180,850,548 (GRCm39)	S204G	probably benign	Het
Szt2	G	A	4: 118,229,810 (GRCm39)	R2774C	unknown	Het
Tcf7l2	T	C	19: 55,896,973 (GRCm39)	V182A	probably damaging	Het
Tmem167b	C	T	3: 108,467,559 (GRCm39)	R29H	probably benign	Het
Trappc12	T	A	12: 28,796,863 (GRCm39)	D223V	probably damaging	Het
Ttc6	T	A	12: 57,664,397 (GRCm39)	S383R	possibly damaging	Het
Ubr1	C	T	2: 120,791,573 (GRCm39)	R137H	possibly damaging	Het
Vmn2r24	T	A	6: 123,792,597 (GRCm39)	C641*	probably null	Het
Vrk3	A	G	7: 44,409,298 (GRCm39)	D155G	probably damaging	Het
Xxylt1	T	C	16: 30,869,503 (GRCm39)	Y199C	probably damaging	Het
Zbtb46	A	T	2: 181,065,363 (GRCm39)	D262E	probably benign	Het
Zcchc9	A	T	13: 91,948,766 (GRCm39)	S58T	probably benign	Het
Zfp747l1	A	T	7: 126,984,085 (GRCm39)		probably benign	Het
Zfyve16	A	T	13: 92,631,563 (GRCm39)	L1344*	probably null	Het

Other mutations in Gja1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Gja1	APN	10	56,264,418 (GRCm39)	missense	probably benign	0.03
IGL01660:Gja1	APN	10	56,264,544 (GRCm39)	missense	probably damaging	1.00
IGL02387:Gja1	APN	10	56,263,902 (GRCm39)	missense	possibly damaging	0.48
IGL02596:Gja1	APN	10	56,264,348 (GRCm39)	missense	possibly damaging	0.77
R0607:Gja1	UTSW	10	56,264,166 (GRCm39)	missense	possibly damaging	0.58
R1386:Gja1	UTSW	10	56,264,065 (GRCm39)	missense	probably benign	0.01
R4084:Gja1	UTSW	10	56,264,607 (GRCm39)	missense	possibly damaging	0.70
R4542:Gja1	UTSW	10	56,264,148 (GRCm39)	missense	probably damaging	1.00
R4601:Gja1	UTSW	10	56,264,325 (GRCm39)	missense	probably damaging	1.00
R5061:Gja1	UTSW	10	56,263,752 (GRCm39)	missense	probably damaging	1.00
R5301:Gja1	UTSW	10	56,264,475 (GRCm39)	missense	probably damaging	0.96
R5740:Gja1	UTSW	10	56,264,285 (GRCm39)	missense	probably damaging	0.99
R6120:Gja1	UTSW	10	56,264,601 (GRCm39)	missense	probably benign	0.00
R6192:Gja1	UTSW	10	56,264,330 (GRCm39)	missense	probably damaging	1.00
R7057:Gja1	UTSW	10	56,264,129 (GRCm39)	missense	probably benign	0.30
R7227:Gja1	UTSW	10	56,263,752 (GRCm39)	missense	probably damaging	1.00
R7894:Gja1	UTSW	10	56,264,645 (GRCm39)	missense	possibly damaging	0.82
R8559:Gja1	UTSW	10	56,264,304 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCGGATCTCCAAAATATGC -3'
(R):5'- CCACAATCGATTGGCAGCTTG -3'

Sequencing Primer
(F):5'- GCGGATCTCCAAAATATGCTTACTTC -3'
(R):5'- GTTTAAATCTCCAGGTCATCAGGC -3'

Posted On

2016-12-15