Mutagenetix > Incidental Mutation

Incidental Mutation 'R6452:Gjd4'

519445

Institutional Source

Beutler Lab

Gene Symbol

Gjd4

Ensembl Gene

ENSMUSG00000036855

Gene Name

gap junction protein, delta 4

Synonyms

connexin 39, Cx39, 9430022F06Rik

MMRRC Submission

044588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9278607-9282809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9280457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 207 (T207M)

Ref Sequence

ENSEMBL: ENSMUSP00000035472 (fasta)

Gene Model

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

AlphaFold

Q8BSD4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041007
AA Change: T207M

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035472
Gene: ENSMUSG00000036855
AA Change: T207M

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	G	13: 119,624,651 (GRCm39)		probably benign	Het
Alox12e	A	T	11: 70,210,831 (GRCm39)	V296E	probably damaging	Het
Bmal2	G	A	6: 146,724,705 (GRCm39)	E400K	probably benign	Het
Ccdc171	A	G	4: 83,782,527 (GRCm39)	D1273G	probably damaging	Het
Cetn3	C	T	13: 81,932,797 (GRCm39)	R19*	probably null	Het
Chd6	G	T	2: 160,807,418 (GRCm39)	P1932H	possibly damaging	Het
Cimip1	C	A	2: 173,369,700 (GRCm39)	F71L	probably benign	Het
Cyp2d34	A	T	15: 82,500,290 (GRCm39)	I483N	probably benign	Het
Dglucy	T	C	12: 100,801,468 (GRCm39)	V71A	possibly damaging	Het
Dhx35	A	G	2: 158,673,607 (GRCm39)	E346G	probably damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fasn	G	T	11: 120,706,237 (GRCm39)	Q1036K	probably damaging	Het
Fermt3	A	T	19: 6,992,105 (GRCm39)	F92I	probably benign	Het
Filip1l	C	A	16: 57,327,163 (GRCm39)	D64E	possibly damaging	Het
Fnbp1l	A	G	3: 122,338,198 (GRCm39)	F491S	probably damaging	Het
Fzd2	T	G	11: 102,495,811 (GRCm39)	V85G	probably damaging	Het
Gm32742	T	C	9: 51,057,490 (GRCm39)	E1096G	probably damaging	Het
Itgb3	T	A	11: 104,524,290 (GRCm39)	L142*	probably null	Het
Kctd21	T	A	7: 96,996,869 (GRCm39)	I114N	probably benign	Het
Klra4	G	T	6: 130,042,329 (GRCm39)		probably null	Het
Larp4b	T	C	13: 9,197,503 (GRCm39)	V240A	probably damaging	Het
Lrriq4	T	C	3: 30,709,882 (GRCm39)	S409P	probably damaging	Het
Magel2	A	G	7: 62,030,132 (GRCm39)	E1012G	unknown	Het
Mmp24	A	T	2: 155,657,673 (GRCm39)	D521V	possibly damaging	Het
Mocos	A	G	18: 24,828,998 (GRCm39)	I768V	probably benign	Het
Mprip	A	T	11: 59,643,609 (GRCm39)	E553V	probably damaging	Het
Myh8	A	T	11: 67,183,275 (GRCm39)	Y718F	probably benign	Het
Myh8	A	T	11: 67,196,565 (GRCm39)	I1762F	possibly damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Neb	A	T	2: 52,069,495 (GRCm39)	D5775E	probably benign	Het
Or10h5	T	C	17: 33,434,919 (GRCm39)	N133S	probably benign	Het
Or5p66	A	G	7: 107,886,100 (GRCm39)	S78P	probably damaging	Het
Pramel19	T	C	4: 101,798,640 (GRCm39)	Y204H	probably benign	Het
Prl8a2	T	C	13: 27,536,780 (GRCm39)	I134T	probably benign	Het
Qrich2	G	A	11: 116,346,714 (GRCm39)	T1370I	probably benign	Het
Rabgap1l	A	G	1: 160,281,331 (GRCm39)	L630P	probably damaging	Het
Ranbp2	G	T	10: 58,313,979 (GRCm39)	L1566F	probably benign	Het
Rnf43	T	A	11: 87,623,079 (GRCm39)	W727R	probably damaging	Het
Rundc3b	A	T	5: 8,629,175 (GRCm39)		probably null	Het
Samm50	T	G	15: 84,088,298 (GRCm39)		probably benign	Het
Sema4f	G	A	6: 82,894,643 (GRCm39)	A476V	probably benign	Het
Slc4a4	A	G	5: 89,376,839 (GRCm39)	N1031S	probably benign	Het
Slc4a9	A	G	18: 36,664,512 (GRCm39)	Y390C	probably damaging	Het
Slco6d1	C	A	1: 98,348,937 (GRCm39)	Q3K	probably benign	Het
Smim1	T	C	4: 154,108,071 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Sppl2c	A	T	11: 104,079,017 (GRCm39)	T606S	probably benign	Het
Tex15	A	G	8: 34,062,844 (GRCm39)	D758G	probably damaging	Het
Tigd5	A	T	15: 75,783,287 (GRCm39)	R550*	probably null	Het
Tlcd3a	G	T	11: 76,097,972 (GRCm39)	G60*	probably null	Het
Tnrc18	A	C	5: 142,712,767 (GRCm39)	L2594R	probably damaging	Het
Vezf1	A	G	11: 87,972,496 (GRCm39)	T468A	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,840 (GRCm39)	I149F	probably damaging	Het
Vmn2r96	A	C	17: 18,804,117 (GRCm39)	T264P	probably benign	Het
Zfp217	C	G	2: 169,961,214 (GRCm39)	S371T	probably benign	Het
Zfp442	G	A	2: 150,250,028 (GRCm39)	H568Y	probably damaging	Het
Zfp53	A	C	17: 21,729,875 (GRCm39)	H636P	probably damaging	Het
Zscan4d	C	T	7: 10,895,999 (GRCm39)	C457Y	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
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'- CTAGCATCTTGGTCTGAATGTTC -3'
(R):5'- GTGTCTTGCTCGCATGTACC -3'

Sequencing Primer
(F):5'- GTCTGAATGTTCCAGCAGCC -3'
(R):5'- CGCATGTACCCTGCTCAG -3'

Posted On

2018-05-24