Mutagenetix > Incidental Mutation

Incidental Mutation 'R6489:Dym'

522708

Institutional Source

Beutler Lab

Gene Symbol

Dym

Ensembl Gene

ENSMUSG00000035765

Gene Name

dymeclin

Synonyms

1810041M12Rik, C030019K18Rik, 4933427L07Rik

MMRRC Submission

044621-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6489 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75151852-75420035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75213297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 173 (V173A)

Ref Sequence

ENSEMBL: ENSMUSP00000047054 (fasta)

Gene Model

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

AlphaFold

Q8CHY3

Predicted Effect

probably benign
Transcript: ENSMUST00000039608
AA Change: V173A

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047054
Gene: ENSMUSG00000035765
AA Change: V173A

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

0.2148

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.3%
20x: 90.6%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 69,901,145 (GRCm39)	T650A	probably benign	Het
Alkbh7	T	A	17: 57,305,979 (GRCm39)	S127T	probably damaging	Het
Ank3	G	A	10: 69,827,459 (GRCm39)	A565T	probably benign	Het
App	G	T	16: 84,853,408 (GRCm39)	D223E	unknown	Het
Arhgef2	C	A	3: 88,550,321 (GRCm39)	S675R	probably damaging	Het
Atg14	T	C	14: 47,786,480 (GRCm39)	D258G	probably damaging	Het
Calhm5	A	T	10: 33,968,502 (GRCm39)	W184R	probably damaging	Het
Cbr1b	A	T	16: 93,427,286 (GRCm39)		probably null	Het
Ckap2l	T	C	2: 129,111,034 (GRCm39)	D721G	possibly damaging	Het
Cog8	T	C	8: 107,776,933 (GRCm39)	T481A	probably benign	Het
Colec10	C	A	15: 54,325,609 (GRCm39)		probably null	Het
Cplx3	A	T	9: 57,521,009 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,332,389 (GRCm39)		probably benign	Het
Dock1	T	C	7: 134,592,270 (GRCm39)	M935T	probably damaging	Het
Dsg4	T	A	18: 20,604,420 (GRCm39)	N962K	possibly damaging	Het
Exoc3l4	A	G	12: 111,395,131 (GRCm39)	Y583C	probably damaging	Het
Flnb	G	A	14: 7,867,551 (GRCm38)	V103M	probably damaging	Het
Fzd1	T	A	5: 4,807,336 (GRCm39)	Q82L	probably benign	Het
Gabrr1	A	G	4: 33,162,855 (GRCm39)	I474V	probably benign	Het
Galnt11	G	T	5: 25,469,964 (GRCm39)	W521L	probably damaging	Het
Glb1l3	A	G	9: 26,738,127 (GRCm39)	V420A	probably benign	Het
H1f7	A	T	15: 98,154,888 (GRCm39)	L87*	probably null	Het
Homer2	T	C	7: 81,274,026 (GRCm39)	T57A	probably benign	Het
Ihh	T	A	1: 74,985,670 (GRCm39)	T272S	probably damaging	Het
Il27ra	T	C	8: 84,758,179 (GRCm39)	M524V	probably benign	Het
Mdp1	C	A	14: 55,897,848 (GRCm39)		probably benign	Het
Med12l	A	G	3: 59,164,828 (GRCm39)	K1436R	probably damaging	Het
Megf10	C	T	18: 57,424,879 (GRCm39)	S1006F	probably benign	Het
Miga1	A	T	3: 151,984,645 (GRCm39)	I426N	probably damaging	Het
Mtmr6	C	T	14: 60,537,963 (GRCm39)	T654I	possibly damaging	Het
Nbeal1	A	G	1: 60,370,101 (GRCm39)	S2673G	possibly damaging	Het
Nup93	T	A	8: 95,028,716 (GRCm39)	H193Q	probably benign	Het
Or1e25	T	A	11: 73,494,265 (GRCm39)	N286K	probably damaging	Het
Or4f7	A	C	2: 111,644,405 (GRCm39)	L222W	probably damaging	Het
Or52ae9	T	C	7: 103,389,875 (GRCm39)	N191D	probably benign	Het
Pdcd11	C	T	19: 47,098,191 (GRCm39)	R826C	probably damaging	Het
Pde4dip	G	A	3: 97,662,907 (GRCm39)	R521*	probably null	Het
Phf2	T	C	13: 48,979,658 (GRCm39)	S158G	unknown	Het
Pla2g15	A	G	8: 106,889,826 (GRCm39)	E366G	probably benign	Het
Plekhm2	A	T	4: 141,359,344 (GRCm39)	H494Q	probably damaging	Het
Prpsap2	A	T	11: 61,639,890 (GRCm39)	M87K	probably damaging	Het
Rbm19	T	G	5: 120,258,195 (GRCm39)	S137A	probably benign	Het
Ryr2	T	A	13: 11,848,893 (GRCm39)	I363L	probably benign	Het
Samd9l	T	C	6: 3,376,896 (GRCm39)	T122A	probably benign	Het
Scn4a	G	C	11: 106,240,006 (GRCm39)	D70E	probably benign	Het
Slc12a3	T	A	8: 95,061,632 (GRCm39)	V293D	possibly damaging	Het
Slc6a7	T	C	18: 61,140,615 (GRCm39)	Y139C	probably damaging	Het
Slco2b1	A	T	7: 99,339,762 (GRCm39)	C9*	probably null	Het
Slitrk1	A	T	14: 109,148,735 (GRCm39)	S659T	possibly damaging	Het
Son	T	G	16: 91,452,044 (GRCm39)	S264A	possibly damaging	Het
Svep1	C	A	4: 58,100,066 (GRCm39)	G1326V	probably damaging	Het
Tcf12	A	G	9: 71,922,918 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,645,062 (GRCm39)	V11185A	probably damaging	Het
Ubap2	T	C	4: 41,203,574 (GRCm39)		probably null	Het
Utp15	G	T	13: 98,387,117 (GRCm39)	F434L	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vsnl1	T	G	12: 11,382,219 (GRCm39)		probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zbtb34	A	C	2: 33,301,558 (GRCm39)	S328A	probably damaging	Het
Zdbf2	T	C	1: 63,346,637 (GRCm39)	I1672T	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
R4929:Dym	UTSW	18	75,376,357 (GRCm39)	missense	probably damaging	1.00
R5033:Dym	UTSW	18	75,252,232 (GRCm39)	missense	possibly damaging	0.78
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'- TGGGATGCCAAGTCCAAACAG -3'
(R):5'- GGTTGGTAAAATGACAACACCC -3'

Sequencing Primer
(F):5'- CCAGAAAGGGGGTTAATATTTTGGC -3'
(R):5'- GGTAAAATGACAACACCCATGAAAAG -3'

Posted On

2018-06-06