Mutagenetix > Incidental Mutation

Incidental Mutation 'R5301:Gja1'

404251

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

MMRRC Submission

042884-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56253297-56266519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56264475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 278 (L278P)

Ref Sequence

ENSEMBL: ENSMUSP00000151620 (fasta)

Gene Model

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

AlphaFold

P23242

Predicted Effect

probably damaging
Transcript: ENSMUST00000068581
AA Change: L278P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064536
Gene: ENSMUSG00000050953
AA Change: L278P

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 damaging
Transcript: ENSMUST00000220069
AA Change: L278P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000220194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220204

Meta Mutation Damage Score

0.2181

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

93% (52/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,896,502 (GRCm39)	V578A	probably damaging	Het
Abcb11	T	C	2: 69,117,191 (GRCm39)	I486V	probably damaging	Het
Abcc9	G	A	6: 142,536,207 (GRCm39)	T1509I	probably benign	Het
Akr1c20	T	A	13: 4,573,279 (GRCm39)	D12V	probably damaging	Het
Asb1	A	G	1: 91,482,475 (GRCm39)	Y66C	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Bcl10	A	G	3: 145,636,342 (GRCm39)	D80G	probably damaging	Het
Bdnf	T	C	2: 109,553,884 (GRCm39)	V46A	probably benign	Het
Cyp11a1	A	G	9: 57,926,544 (GRCm39)		probably benign	Het
Cyp3a44	A	G	5: 145,725,326 (GRCm39)	S292P	probably damaging	Het
Desi2	A	G	1: 178,071,952 (GRCm39)	I85M	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock10	T	C	1: 80,625,973 (GRCm39)	D49G	probably benign	Het
Epcam	T	A	17: 87,944,305 (GRCm39)	L20Q	possibly damaging	Het
Ercc4	T	C	16: 12,948,550 (GRCm39)	V589A	probably damaging	Het
Fcgbp	A	T	7: 27,793,099 (GRCm39)	K1034N	possibly damaging	Het
Fras1	C	T	5: 96,805,125 (GRCm39)	L1256F	possibly damaging	Het
Gata5	T	C	2: 179,975,786 (GRCm39)	Y126C	probably damaging	Het
Gm11596	C	A	11: 99,683,847 (GRCm39)	R91L	unknown	Het
Gm29125	A	T	1: 80,362,154 (GRCm39)		noncoding transcript	Het
Hcrtr1	G	T	4: 130,031,463 (GRCm39)		probably null	Het
Ifi207	G	A	1: 173,556,977 (GRCm39)	S587L	possibly damaging	Het
Ino80d	T	C	1: 63,113,578 (GRCm39)	T291A	probably benign	Het
Itgb3	A	G	11: 104,524,480 (GRCm39)		probably null	Het
Kif26b	A	G	1: 178,358,233 (GRCm39)	S115G	unknown	Het
Klc3	T	C	7: 19,130,274 (GRCm39)	Y301C	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Meioc	A	T	11: 102,570,871 (GRCm39)	R867S	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mthfd2	C	A	6: 83,287,465 (GRCm39)	G200V	probably damaging	Het
Nrap	A	G	19: 56,367,541 (GRCm39)	I312T	probably damaging	Het
Nrp1	T	G	8: 129,160,678 (GRCm39)		probably null	Het
Obscn	A	G	11: 59,026,234 (GRCm39)	L323P	probably damaging	Het
Or11g1	T	C	14: 50,651,030 (GRCm39)	S10P	probably benign	Het
Or1b1	C	T	2: 36,995,210 (GRCm39)	V151M	probably benign	Het
Or9i14	G	A	19: 13,792,933 (GRCm39)	T7I	probably damaging	Het
Pkn2	A	C	3: 142,544,967 (GRCm39)		probably null	Het
Ppp1r18	A	G	17: 36,179,237 (GRCm39)	R371G	probably benign	Het
Prkar2b	A	C	12: 32,025,927 (GRCm39)	V31G	probably damaging	Het
Reg3b	T	A	6: 78,348,243 (GRCm39)	M19K	probably damaging	Het
Sec14l2	G	A	11: 4,068,727 (GRCm39)		probably benign	Het
Sgca	C	T	11: 94,854,157 (GRCm39)	R104Q	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Sorcs2	A	G	5: 36,196,734 (GRCm39)	V637A	probably damaging	Het
Tdrd9	T	A	12: 112,002,963 (GRCm39)		probably null	Het
Tmem181a	T	C	17: 6,346,070 (GRCm39)	I229T	possibly damaging	Het
Tmpo	A	T	10: 90,985,650 (GRCm39)		probably benign	Het
Ttc41	T	C	10: 86,555,384 (GRCm39)	V280A	probably benign	Het
Vmn1r234	G	T	17: 21,449,589 (GRCm39)	V168F	probably benign	Het
Vmn2r96	T	A	17: 18,817,950 (GRCm39)	I701N	probably damaging	Het
Wnt16	T	A	6: 22,297,848 (GRCm39)	M238K	probably damaging	Het
Zfp607b	A	G	7: 27,403,172 (GRCm39)	T543A	probably benign	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
R5740:Gja1	UTSW	10	56,264,285 (GRCm39)	missense	probably damaging	0.99
R5808:Gja1	UTSW	10	56,264,594 (GRCm39)	missense	probably benign	0.14
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'- CTCTCGCTCTGAATATCATTGAGC -3'
(R):5'- AGTTCGTGTCCAGCAGCAAC -3'

Sequencing Primer
(F):5'- GAGCTCTTCTATGTCTTCTTCAAGGG -3'
(R):5'- CTGTCGTCAGGGAAATCAAAC -3'

Posted On

2016-07-22