Mutagenetix > Incidental Mutation

Incidental Mutation 'R1536:Gjd4'

169557

Institutional Source

Beutler Lab

Gene Symbol

Gjd4

Ensembl Gene

ENSMUSG00000036855

Gene Name

gap junction protein, delta 4

Synonyms

connexin 39, Cx39, 9430022F06Rik

MMRRC Submission

039575-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1536 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

9278607-9282809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9280569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 170 (T170S)

Ref Sequence

ENSEMBL: ENSMUSP00000035472 (fasta)

Gene Model

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

AlphaFold

Q8BSD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000041007
AA Change: T170S

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

SMART Domains

Protein: ENSMUSP00000035472
Gene: ENSMUSG00000036855
AA Change: T170S

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

Meta Mutation Damage Score

0.5956

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,118,524 (GRCm39)	I3F	probably benign	Het
4930590J08Rik	A	G	6: 91,894,016 (GRCm39)	N211S	probably benign	Het
A2ml1	A	T	6: 128,524,196 (GRCm39)	Y1145*	probably null	Het
Abca7	A	G	10: 79,850,064 (GRCm39)	D1972G	probably benign	Het
Adamts19	A	T	18: 59,185,687 (GRCm39)	D1187V	probably damaging	Het
Adcy6	G	C	15: 98,497,888 (GRCm39)	I421M	probably damaging	Het
Afap1	C	A	5: 36,131,835 (GRCm39)	H387Q	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Auts2	C	T	5: 131,516,302 (GRCm39)		probably benign	Het
Cbll1	T	C	12: 31,537,855 (GRCm39)	D300G	probably damaging	Het
Cd200r4	A	T	16: 44,653,412 (GRCm39)	T61S	possibly damaging	Het
Chmp4c	G	T	3: 10,454,744 (GRCm39)	V207L	probably benign	Het
Cntn5	T	C	9: 9,976,321 (GRCm39)	T413A	possibly damaging	Het
Cox7a2	T	A	9: 79,665,863 (GRCm39)		probably null	Het
Cwc27	A	G	13: 104,933,814 (GRCm39)	L236P	probably damaging	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dst	T	A	1: 34,299,453 (GRCm39)		probably benign	Het
Ear1	T	A	14: 44,056,583 (GRCm39)	H95L	probably damaging	Het
Enpp1	T	A	10: 24,517,732 (GRCm39)	H898L	probably benign	Het
Entpd5	G	A	12: 84,429,069 (GRCm39)	R321*	probably null	Het
Ercc6l2	C	A	13: 63,972,685 (GRCm39)	N177K	possibly damaging	Het
Ergic1	T	C	17: 26,860,680 (GRCm39)		probably null	Het
Erich6	A	T	3: 58,534,019 (GRCm39)	I336N	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Galnt3	A	T	2: 65,914,550 (GRCm39)	D622E	probably damaging	Het
Gm5611	G	A	9: 16,941,903 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 115,636,662 (GRCm39)	N448K	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Maco1	A	G	4: 134,531,818 (GRCm39)	V617A	probably damaging	Het
Man2b2	T	C	5: 36,978,271 (GRCm39)	T338A	probably benign	Het
Mbtps1	A	T	8: 120,272,864 (GRCm39)	S94T	probably benign	Het
Muc3a	A	T	5: 137,244,538 (GRCm39)	S205T	unknown	Het
Nav2	C	A	7: 49,195,682 (GRCm39)	D1019E	probably damaging	Het
Neurl4	T	A	11: 69,794,252 (GRCm39)	L236*	probably null	Het
Or13c25	A	G	4: 52,911,260 (GRCm39)	V178A	probably benign	Het
Plcxd3	T	C	15: 4,546,093 (GRCm39)		probably benign	Het
Pprc1	T	C	19: 46,059,965 (GRCm39)		probably benign	Het
Prkaa2	T	A	4: 104,932,647 (GRCm39)	N67I	probably damaging	Het
Prom1	T	A	5: 44,175,695 (GRCm39)	Y508F	probably benign	Het
Prx	A	G	7: 27,216,683 (GRCm39)	M534V	probably damaging	Het
Rps6kc1	C	T	1: 190,603,965 (GRCm39)	R219Q	possibly damaging	Het
Sbf2	T	C	7: 109,977,250 (GRCm39)	Y628C	probably damaging	Het
Slc1a2	A	T	2: 102,607,855 (GRCm39)	D501V	probably benign	Het
Spata31	A	T	13: 65,069,196 (GRCm39)	Q448L	probably damaging	Het
Stk35	T	C	2: 129,653,155 (GRCm39)		probably benign	Het
Stxbp5	T	A	10: 9,713,836 (GRCm39)	R234S	probably damaging	Het
Tifab	A	G	13: 56,324,101 (GRCm39)	V114A	probably benign	Het
Tiprl	A	G	1: 165,055,975 (GRCm39)	M49T	probably benign	Het
Tlr12	A	G	4: 128,511,545 (GRCm39)	L235P	possibly damaging	Het
Trim43b	A	T	9: 88,967,411 (GRCm39)	C407*	probably null	Het
Txndc17	C	A	11: 72,098,533 (GRCm39)	F28L	probably damaging	Het
Vmn2r27	T	C	6: 124,177,649 (GRCm39)	R452G	probably damaging	Het
Vmn2r3	T	A	3: 64,182,538 (GRCm39)	D387V	probably damaging	Het
Vps13b	T	C	15: 35,875,712 (GRCm39)	I2699T	probably damaging	Het
Zfp944	G	T	17: 22,558,697 (GRCm39)	Y183*	probably null	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
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
R7077:Gjd4	UTSW	18	9,280,928 (GRCm39)	missense	probably damaging	1.00
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'- AACTCAGGCACAACTTGTTCCTCC -3'
(R):5'- GGTCTTTGGCACTTACACCCTACAC -3'

Sequencing Primer
(F):5'- TGGTCCACCTGACCTTGG -3'
(R):5'- TCTACTGCCTACCTGGTGCA -3'

Posted On

2014-04-13