Mutagenetix > Incidental Mutation

Incidental Mutation 'R4929:Dym'

430280

Institutional Source

Beutler Lab

Gene Symbol

Dym

Ensembl Gene

ENSMUSG00000035765

Gene Name

dymeclin

Synonyms

1810041M12Rik, C030019K18Rik, 4933427L07Rik

MMRRC Submission

042530-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75151852-75420035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75376357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 583 (V583E)

Ref Sequence

ENSEMBL: ENSMUSP00000047054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039608]

AlphaFold

Q8CHY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000039608
AA Change: V583E

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

SMART Domains

Protein: ENSMUSP00000047054
Gene: ENSMUSG00000035765
AA Change: V583E

Domain	Start	End	E-Value	Type
Pfam:Dymeclin	1	646	3.3e-174	PFAM
Pfam:Hid1	309	584	3e-11	PFAM

Meta Mutation Damage Score

0.9398

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele display decreased body size with short tubular bones, chondrodysplasia, partial penetrance of obstructive hydronephrosis and impaired vesicular transport. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,273,467 (GRCm39)		noncoding transcript	Het
Abcd3	A	T	3: 121,562,395 (GRCm39)		probably null	Het
Adamts12	C	T	15: 11,259,108 (GRCm39)	R551C	probably damaging	Het
Adamtsl4	A	G	3: 95,585,315 (GRCm39)	C818R	probably damaging	Het
Arfgef3	T	A	10: 18,506,599 (GRCm39)	Q842L	probably benign	Het
Aurka	A	T	2: 172,212,326 (GRCm39)	V17E	probably benign	Het
Cdh24	C	T	14: 54,870,973 (GRCm39)	V132I	probably benign	Het
Cep57l1	T	C	10: 41,621,910 (GRCm39)	D2G	possibly damaging	Het
Cntn5	T	A	9: 9,976,400 (GRCm39)		probably null	Het
Col10a1	T	C	10: 34,271,120 (GRCm39)	I364T	probably benign	Het
Dpp6	G	A	5: 27,254,785 (GRCm39)	A67T	probably benign	Het
Efcab5	T	G	11: 76,994,209 (GRCm39)	K1259N	probably benign	Het
Ehbp1	T	G	11: 22,189,169 (GRCm39)	I78L	possibly damaging	Het
Epha1	C	A	6: 42,341,533 (GRCm39)	A469S	probably benign	Het
Fam135a	T	C	1: 24,069,081 (GRCm39)	D596G	probably benign	Het
Filip1	T	C	9: 79,727,029 (GRCm39)	N530S	probably benign	Het
Gm57858	G	A	3: 36,089,487 (GRCm39)	L146F	probably damaging	Het
Grhl2	A	G	15: 37,361,046 (GRCm39)	N610S	probably benign	Het
Haus6	T	C	4: 86,513,670 (GRCm39)	I331V	probably benign	Het
Ints2	G	T	11: 86,103,479 (GRCm39)	N1192K	possibly damaging	Het
Itga5	A	G	15: 103,261,662 (GRCm39)	V445A	probably benign	Het
Itga9	C	A	9: 118,636,317 (GRCm39)	D82E	probably damaging	Het
Jam2	G	A	16: 84,619,750 (GRCm39)		probably benign	Het
Klhl32	T	A	4: 24,709,030 (GRCm39)	I112F	probably damaging	Het
Lepr	A	G	4: 101,672,314 (GRCm39)	I1113V	probably benign	Het
Lrrc3b	C	A	14: 15,357,888 (GRCm38)	L239F	probably damaging	Het
Lzic	T	A	4: 149,572,585 (GRCm39)		probably null	Het
Mxra8	T	A	4: 155,927,118 (GRCm39)	F351I	probably damaging	Het
Naa40	A	G	19: 7,207,347 (GRCm39)	F126L	probably damaging	Het
Nbeal1	C	T	1: 60,277,813 (GRCm39)	S733F	probably damaging	Het
Olr1	T	C	6: 129,477,044 (GRCm39)	T74A	probably damaging	Het
Or52x1	A	G	7: 104,853,232 (GRCm39)	I106T	probably damaging	Het
Or5aq7	A	G	2: 86,938,527 (GRCm39)	F68S	possibly damaging	Het
Or5h17	A	C	16: 58,820,582 (GRCm39)	Y178S	probably damaging	Het
Pgam5	A	T	5: 110,413,691 (GRCm39)	V130D	probably damaging	Het
Pop4	A	G	7: 37,965,573 (GRCm39)	C115R	probably damaging	Het
Prpf18	A	T	2: 4,629,348 (GRCm39)		probably null	Het
Psg16	G	A	7: 16,829,031 (GRCm39)	R205H	possibly damaging	Het
Ptgr1	C	A	4: 58,981,879 (GRCm39)	A53S	probably benign	Het
Shank2	A	G	7: 143,965,008 (GRCm39)	D1451G	probably benign	Het
Slfn10-ps	A	G	11: 82,920,345 (GRCm39)		noncoding transcript	Het
Sox8	G	A	17: 25,789,330 (GRCm39)	A56V	probably benign	Het
Ssr3	A	G	3: 65,295,175 (GRCm39)	S113P	probably damaging	Het
Stx16	T	C	2: 173,938,721 (GRCm39)	Y296H	possibly damaging	Het
Tfcp2	A	T	15: 100,426,370 (GRCm39)	N60K	probably benign	Het
Thada	T	C	17: 84,751,654 (GRCm39)	T441A	probably benign	Het
Trf	G	T	9: 103,105,074 (GRCm39)		probably benign	Het
Vamp2	T	A	11: 68,979,488 (GRCm39)		probably benign	Het
Vmn2r105	A	T	17: 20,448,280 (GRCm39)	D181E	probably benign	Het
Vmn2r12	A	T	5: 109,239,544 (GRCm39)	Y340N	probably damaging	Het
Wasf2	C	A	4: 132,923,170 (GRCm39)	D493E	unknown	Het
Wdfy4	T	C	14: 32,769,213 (GRCm39)	D2084G	possibly damaging	Het
Zfp229	T	A	17: 21,965,354 (GRCm39)	I528N	probably damaging	Het
Zfp703	T	A	8: 27,468,879 (GRCm39)	V181E	possibly damaging	Het

Other mutations in Dym

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Dym	APN	18	75,252,320 (GRCm39)	missense	probably benign	0.43
IGL01593:Dym	APN	18	75,247,852 (GRCm39)	splice site	probably benign
IGL02657:Dym	APN	18	75,215,527 (GRCm39)	nonsense	probably null
IGL02716:Dym	APN	18	75,419,754 (GRCm39)	missense	probably damaging	1.00
IGL02977:Dym	APN	18	75,196,246 (GRCm39)	critical splice donor site	probably null
asesino	UTSW	18	75,189,712 (GRCm39)	missense	probably damaging	1.00
flavor	UTSW	18	75,189,809 (GRCm39)	nonsense	probably null
geschmack	UTSW	18	75,196,245 (GRCm39)	critical splice donor site	probably null
kugel	UTSW	18	75,189,809 (GRCm39)	nonsense	probably null
sabor	UTSW	18	75,258,610 (GRCm39)	critical splice donor site	probably null
R0042:Dym	UTSW	18	75,258,610 (GRCm39)	critical splice donor site	probably null
R0058:Dym	UTSW	18	75,176,243 (GRCm39)	missense	possibly damaging	0.94
R0058:Dym	UTSW	18	75,176,243 (GRCm39)	missense	possibly damaging	0.94
R0320:Dym	UTSW	18	75,332,333 (GRCm39)	missense	probably damaging	0.99
R0943:Dym	UTSW	18	75,419,840 (GRCm39)	makesense	probably null
R1677:Dym	UTSW	18	75,258,583 (GRCm39)	missense	probably damaging	1.00
R2022:Dym	UTSW	18	75,213,321 (GRCm39)	missense	probably benign	0.05
R2221:Dym	UTSW	18	75,363,236 (GRCm39)	missense	probably damaging	1.00
R2292:Dym	UTSW	18	75,332,283 (GRCm39)	missense	possibly damaging	0.95
R4087:Dym	UTSW	18	75,363,172 (GRCm39)	missense	probably damaging	1.00
R5033:Dym	UTSW	18	75,252,232 (GRCm39)	missense	possibly damaging	0.78
R6489:Dym	UTSW	18	75,213,297 (GRCm39)	missense	probably benign	0.27
R6641:Dym	UTSW	18	75,189,712 (GRCm39)	missense	probably damaging	1.00
R6751:Dym	UTSW	18	75,419,718 (GRCm39)	missense	probably damaging	0.98
R6864:Dym	UTSW	18	75,189,809 (GRCm39)	nonsense	probably null
R7284:Dym	UTSW	18	75,252,242 (GRCm39)	missense	possibly damaging	0.60
R7319:Dym	UTSW	18	75,196,245 (GRCm39)	critical splice donor site	probably null
R8095:Dym	UTSW	18	75,247,872 (GRCm39)	missense	possibly damaging	0.75
R8683:Dym	UTSW	18	75,363,089 (GRCm39)	missense	probably damaging	1.00
R8686:Dym	UTSW	18	75,419,754 (GRCm39)	missense	probably damaging	1.00
R8713:Dym	UTSW	18	75,189,809 (GRCm39)	nonsense	probably null
R9022:Dym	UTSW	18	75,258,507 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTCCAGCAACTTCGTGGTTC -3'
(R):5'- TCTCTATGTGCCTTGAGTGACC -3'

Sequencing Primer
(F):5'- CAGCAACTTCGTGGTTCAATCTATG -3'
(R):5'- CTATGTGCCTTGAGTGACCAACAG -3'

Posted On

2016-10-05