Mutagenetix > Incidental Mutations

Incidental Mutation 'R0058:Dym'

16253

Institutional Source

Beutler Lab

Gene Symbol

Dym

Ensembl Gene

ENSMUSG00000035765

Gene Name

dymeclin

Synonyms

C030019K18Rik, 4933427L07Rik, 1810041M12Rik

MMRRC Submission

038352-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0058 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

75018772-75286966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75043172 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 15 (E15K)

Ref Sequence

ENSEMBL: ENSMUSP00000047054 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039608
AA Change: E15K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047054
Gene: ENSMUSG00000035765
AA Change: E15K

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

0.0841

Coding Region Coverage

1x: 87.4%
3x: 82.9%
10x: 66.9%
20x: 41.4%

Validation Efficiency

85% (62/73)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,182,672	V6088A	possibly damaging	Het
Ankrd36	A	G	11: 5,630,691		probably benign	Het
Anxa1	A	T	19: 20,383,777	Y84N	probably damaging	Het
Arnt2	G	A	7: 84,347,530	R63C	probably damaging	Het
Avpr1b	A	G	1: 131,599,786	T16A	probably benign	Het
Cables1	A	G	18: 11,923,413	E316G	possibly damaging	Het
Cadm1	A	T	9: 47,850,331	I427L	probably damaging	Het
Dazap1	T	C	10: 80,261,581		probably benign	Het
Dip2b	A	G	15: 100,215,240	E1512G	probably benign	Het
Dock1	G	A	7: 135,108,761	V1171M	possibly damaging	Het
Dock5	A	T	14: 67,781,036	F1230Y	probably benign	Het
Dst	T	C	1: 34,006,224	S13P	possibly damaging	Het
Faf1	A	G	4: 109,736,624	Q133R	probably benign	Het
Fcer2a	T	C	8: 3,688,111		probably benign	Het
Fmo2	A	T	1: 162,886,324	S204R	probably benign	Het
Ghitm	A	G	14: 37,131,592	L97P	probably damaging	Het
Gins4	A	G	8: 23,229,510		probably benign	Het
Gm10573	G	A	4: 121,920,736			Het
Golga3	T	A	5: 110,202,777	F766Y	possibly damaging	Het
Hapln1	T	C	13: 89,607,878	I267T	probably benign	Het
Helz	A	T	11: 107,672,558		probably benign	Het
Igll1	A	T	16: 16,863,876	V5E	probably benign	Het
Kif16b	A	G	2: 142,857,305		probably null	Het
Limk1	A	T	5: 134,659,871	W507R	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mtif3	C	A	5: 146,956,921	V159F	probably benign	Het
Ncoa7	T	A	10: 30,647,541	D887V	probably damaging	Het
Pkd1	G	C	17: 24,564,703	A162P	probably benign	Het
Plce1	A	G	19: 38,525,184	D309G	possibly damaging	Het
Plk4	T	C	3: 40,805,872	V401A	probably benign	Het
Prrc2c	C	T	1: 162,698,884	V253I	unknown	Het
Ranbp2	T	A	10: 58,480,531	S2358T	probably damaging	Het
Setd2	T	A	9: 110,594,426	V2183E	probably damaging	Het
Sgsm1	T	A	5: 113,285,087	S232C	probably damaging	Het
Skint6	A	T	4: 113,046,815		probably benign	Het
Slc15a2	A	G	16: 36,754,547	I531T	probably benign	Het
Slc36a1	C	T	11: 55,221,994		probably benign	Het
Sptan1	T	C	2: 29,993,696		probably null	Het
Tex15	C	T	8: 33,581,502		probably benign	Het
Tlr9	T	G	9: 106,224,965	L485R	possibly damaging	Het
Tmem207	A	G	16: 26,524,829		probably benign	Het
Triml2	T	C	8: 43,185,269		probably benign	Het
Tspear	T	C	10: 77,869,631	F288L	probably benign	Het
Zfp644	A	T	5: 106,637,003	S559R	possibly damaging	Het

Other mutations in Dym

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Dym	APN	18	75119249	missense	probably benign	0.43
IGL01593:Dym	APN	18	75114781	splice site	probably benign
IGL02657:Dym	APN	18	75082456	nonsense	probably null
IGL02716:Dym	APN	18	75286683	missense	probably damaging	1.00
IGL02977:Dym	APN	18	75063175	critical splice donor site	probably null
asesino	UTSW	18	75056641	missense	probably damaging	1.00
flavor	UTSW	18	75056738	nonsense	probably null
geschmack	UTSW	18	75063174	critical splice donor site	probably null
sabor	UTSW	18	75125539	critical splice donor site	probably null
R0042:Dym	UTSW	18	75125539	critical splice donor site	probably null
R0058:Dym	UTSW	18	75043172	missense	possibly damaging	0.94
R0320:Dym	UTSW	18	75199262	missense	probably damaging	0.99
R0943:Dym	UTSW	18	75286769	makesense	probably null
R1677:Dym	UTSW	18	75125512	missense	probably damaging	1.00
R2022:Dym	UTSW	18	75080250	missense	probably benign	0.05
R2221:Dym	UTSW	18	75230165	missense	probably damaging	1.00
R2292:Dym	UTSW	18	75199212	missense	possibly damaging	0.95
R4087:Dym	UTSW	18	75230101	missense	probably damaging	1.00
R4929:Dym	UTSW	18	75243286	missense	probably damaging	1.00
R5033:Dym	UTSW	18	75119161	missense	possibly damaging	0.78
R6489:Dym	UTSW	18	75080226	missense	probably benign	0.27
R6641:Dym	UTSW	18	75056641	missense	probably damaging	1.00
R6751:Dym	UTSW	18	75286647	missense	probably damaging	0.98
R6864:Dym	UTSW	18	75056738	nonsense	probably null
R7284:Dym	UTSW	18	75119171	missense	possibly damaging	0.60
R7319:Dym	UTSW	18	75063174	critical splice donor site	probably null
R8095:Dym	UTSW	18	75114801	missense	possibly damaging	0.75

Posted On

2013-01-20