Mutagenetix > Incidental Mutation

Incidental Mutation 'R7077:Gjd4'

549305

Institutional Source

Beutler Lab

Gene Symbol

Gjd4

Ensembl Gene

ENSMUSG00000036855

Gene Name

gap junction protein, delta 4

Synonyms

connexin 39, Cx39, 9430022F06Rik

MMRRC Submission

045172-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9278607-9282809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9280928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 50 (E50G)

Ref Sequence

ENSEMBL: ENSMUSP00000035472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041007]

AlphaFold

Q8BSD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000041007
AA Change: E50G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035472
Gene: ENSMUSG00000036855
AA Change: E50G

Domain	Start	End	E-Value	Type
low complexity region	26	39	N/A	INTRINSIC
CNX	43	76	4.18e-13	SMART
Connexin_CCC	131	197	1.23e-28	SMART
low complexity region	237	251	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accelerated muscle regeneration following BaCl2 injection. [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
Adam21	C	T	12: 81,605,893 (GRCm39)	C623Y	probably damaging	Het
Ago3	T	C	4: 126,265,325 (GRCm39)	K322R	probably null	Het
Ankrd17	T	C	5: 90,433,723 (GRCm39)	H682R	possibly damaging	Het
Aoah	A	G	13: 21,094,276 (GRCm39)	D187G	probably damaging	Het
Arhgap17	T	C	7: 122,879,231 (GRCm39)	D840G	unknown	Het
AW551984	C	T	9: 39,502,723 (GRCm39)	V650I	probably benign	Het
Bok	T	A	1: 93,616,911 (GRCm39)	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,510,272 (GRCm39)	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,417,199 (GRCm39)	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,540,134 (GRCm39)	I977S	unknown	Het
Cobl	T	C	11: 12,203,441 (GRCm39)	N1087S	probably benign	Het
Cyp21a1	C	A	17: 35,021,333 (GRCm39)	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,561,490 (GRCm39)	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,269,580 (GRCm39)	I120S	probably damaging	Het
Enpp2	A	C	15: 54,764,787 (GRCm39)	D146E	probably benign	Het
Exosc9	T	C	3: 36,607,205 (GRCm39)	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,268,498 (GRCm39)	G300S	probably benign	Het
Focad	C	A	4: 88,328,914 (GRCm39)	A1709E	unknown	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fsip2	T	C	2: 82,813,496 (GRCm39)	F3272L	probably benign	Het
Gcnt2	G	A	13: 41,013,896 (GRCm39)	M22I	probably benign	Het
Gm10375	G	T	14: 43,840,427 (GRCm39)	T162K	probably benign	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Gm4924	T	C	10: 82,215,057 (GRCm39)	F952L	unknown	Het
Heatr1	T	C	13: 12,433,045 (GRCm39)	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,159,756 (GRCm39)	Y442H	unknown	Het
Hp1bp3	C	A	4: 137,966,929 (GRCm39)	T408N	probably damaging	Het
Htra3	A	G	5: 35,825,660 (GRCm39)	V198A	probably damaging	Het
Katnal1	T	C	5: 148,828,547 (GRCm39)	T300A	probably benign	Het
Lipo5	G	T	19: 33,445,170 (GRCm39)	P133Q		Het
Lrp1b	A	T	2: 41,660,858 (GRCm39)	H197Q		Het
Mdc1	C	A	17: 36,156,839 (GRCm39)	A82D	probably damaging	Het
Mstn	A	T	1: 53,103,408 (GRCm39)	D248V	probably benign	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Ola1	G	A	2: 72,972,308 (GRCm39)	T221I	probably damaging	Het
Or52z1	A	G	7: 103,436,593 (GRCm39)	I297T	probably damaging	Het
Or5t7	T	C	2: 86,507,236 (GRCm39)	Y147C	possibly damaging	Het
Or7e166	T	A	9: 19,624,428 (GRCm39)	S102T	probably benign	Het
Or8c20	T	A	9: 38,261,266 (GRCm39)	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,623,201 (GRCm39)	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,810,093 (GRCm39)	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,460,086 (GRCm39)	N190I	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,281,633 (GRCm39)	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,071,820 (GRCm39)	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,607,855 (GRCm39)	D501V	probably benign	Het
Smarcd3	G	T	5: 24,799,960 (GRCm39)	A270D	probably damaging	Het
Srgap2	A	G	1: 131,272,187 (GRCm39)	M33T		Het
Tle1	G	C	4: 72,076,612 (GRCm39)	P139A	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tsbp1	C	A	17: 34,659,856 (GRCm39)	T93N	possibly damaging	Het
Zfp658	T	A	7: 43,223,413 (GRCm39)	S563T	probably benign	Het
Zswim9	G	A	7: 12,993,679 (GRCm39)	R826C	probably damaging	Het

Other mutations in Gjd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0046:Gjd4	UTSW	18	9,280,998 (GRCm39)	missense	probably damaging	0.98
R0046:Gjd4	UTSW	18	9,280,998 (GRCm39)	missense	probably damaging	0.98
R0157:Gjd4	UTSW	18	9,280,549 (GRCm39)	missense	probably benign	0.00
R0348:Gjd4	UTSW	18	9,280,964 (GRCm39)	missense	possibly damaging	0.77
R0538:Gjd4	UTSW	18	9,280,244 (GRCm39)	missense	probably benign	0.00
R1536:Gjd4	UTSW	18	9,280,569 (GRCm39)	missense	probably damaging	1.00
R2423:Gjd4	UTSW	18	9,280,811 (GRCm39)	nonsense	probably null
R2425:Gjd4	UTSW	18	9,280,811 (GRCm39)	nonsense	probably null
R3031:Gjd4	UTSW	18	9,280,811 (GRCm39)	nonsense	probably null
R3508:Gjd4	UTSW	18	9,280,811 (GRCm39)	nonsense	probably null
R4154:Gjd4	UTSW	18	9,280,811 (GRCm39)	nonsense	probably null
R4675:Gjd4	UTSW	18	9,280,578 (GRCm39)	missense	probably damaging	1.00
R5255:Gjd4	UTSW	18	9,280,613 (GRCm39)	missense	probably benign	0.00
R6452:Gjd4	UTSW	18	9,280,457 (GRCm39)	missense	possibly damaging	0.91
R7002:Gjd4	UTSW	18	9,280,960 (GRCm39)	missense	possibly damaging	0.88
R7232:Gjd4	UTSW	18	9,280,380 (GRCm39)	missense	probably damaging	1.00
R7250:Gjd4	UTSW	18	9,280,391 (GRCm39)	missense	probably benign	0.03
R7355:Gjd4	UTSW	18	9,280,860 (GRCm39)	missense	probably damaging	1.00
R8398:Gjd4	UTSW	18	9,280,326 (GRCm39)	missense	possibly damaging	0.51
R9147:Gjd4	UTSW	18	9,280,095 (GRCm39)	missense	probably benign	0.01
R9148:Gjd4	UTSW	18	9,280,095 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGTACATGCGAGCAAGACAC -3'
(R):5'- TCTCGGGGAGTAAAAGTTAAGC -3'

Sequencing Primer
(F):5'- TAGGTGCACCAGGTAGGC -3'
(R):5'- AGTAAAAGTTAAGCTGCTGTGTG -3'

Posted On

2019-05-15