Mutagenetix > Incidental Mutation

Incidental Mutation 'R0042:Dym'

63266

Institutional Source

Beutler Lab

Gene Symbol

Dym

Ensembl Gene

ENSMUSG00000035765

Gene Name

dymeclin

Synonyms

1810041M12Rik, C030019K18Rik, 4933427L07Rik

MMRRC Submission

038336-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0042 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

75151852-75420035 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 75258610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047054 (fasta)

Gene Model

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

AlphaFold

Q8CHY3

Predicted Effect

probably null
Transcript: ENSMUST00000039608

SMART Domains

Protein: ENSMUSP00000047054
Gene: ENSMUSG00000035765

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

0.9593

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (71/71)

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
Abca1	C	T	4: 53,059,245 (GRCm39)		probably benign	Het
Acr	T	A	15: 89,458,535 (GRCm39)	H405Q	probably benign	Het
Adad1	T	C	3: 37,137,322 (GRCm39)		probably benign	Het
Alox5ap	T	C	5: 149,216,069 (GRCm39)		probably benign	Het
Ank2	T	C	3: 126,730,280 (GRCm39)	D3568G	probably damaging	Het
Atl3	T	G	19: 7,506,388 (GRCm39)	I306S	probably damaging	Het
Atr	T	A	9: 95,809,409 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,326,335 (GRCm39)	V34A	probably benign	Het
Cdh12	A	C	15: 21,537,763 (GRCm39)		probably benign	Het
Cib1	C	T	7: 79,880,126 (GRCm39)	V45M	probably benign	Het
Col6a6	T	C	9: 105,657,896 (GRCm39)	E772G	possibly damaging	Het
Dmxl1	C	A	18: 49,997,102 (GRCm39)	T466K	probably benign	Het
Enpp3	A	C	10: 24,650,722 (GRCm39)	F805V	probably damaging	Het
Eya1	T	C	1: 14,254,713 (GRCm39)	D373G	probably damaging	Het
Gpr179	C	T	11: 97,225,757 (GRCm39)	V2133I	probably benign	Het
Grb10	G	T	11: 11,886,798 (GRCm39)	H435Q	probably damaging	Het
Gzmm	T	C	10: 79,530,399 (GRCm39)	I190T	probably benign	Het
Helt	T	C	8: 46,745,433 (GRCm39)	Y150C	probably damaging	Het
Hrg	A	T	16: 22,779,886 (GRCm39)		probably benign	Het
Il17ra	T	C	6: 120,449,086 (GRCm39)		probably benign	Het
Inhbc	A	G	10: 127,193,302 (GRCm39)	I238T	probably benign	Het
Itgb3	A	G	11: 104,557,966 (GRCm39)	T787A	possibly damaging	Het
Jakmip2	T	G	18: 43,685,210 (GRCm39)		probably benign	Het
Krt4	T	G	15: 101,831,187 (GRCm39)		probably benign	Het
Lgsn	C	T	1: 31,229,534 (GRCm39)	T85I	probably benign	Het
Metap1	C	T	3: 138,177,918 (GRCm39)	V217I	probably benign	Het
Mib2	A	T	4: 155,743,897 (GRCm39)	C48*	probably null	Het
Mroh4	T	A	15: 74,482,154 (GRCm39)	I768F	probably damaging	Het
Npas3	T	A	12: 54,095,624 (GRCm39)	D361E	probably damaging	Het
Obscn	A	G	11: 58,943,411 (GRCm39)	L4246P	probably damaging	Het
Or4a78	A	C	2: 89,497,798 (GRCm39)	V144G	probably benign	Het
Or7e169	A	G	9: 19,757,075 (GRCm39)	M280T	probably benign	Het
Or8h7	A	G	2: 86,720,835 (GRCm39)	I228T	probably damaging	Het
P4hb	G	A	11: 120,459,092 (GRCm39)	R134C	probably damaging	Het
Plcb3	T	C	19: 6,943,788 (GRCm39)	D71G	probably damaging	Het
Prex2	T	A	1: 11,150,305 (GRCm39)	V159E	probably damaging	Het
Prpsap1	T	A	11: 116,370,482 (GRCm39)	K158N	probably benign	Het
Prr35	C	A	17: 26,166,956 (GRCm39)	E194*	probably null	Het
Ptger1	G	T	8: 84,394,795 (GRCm39)	V91L	probably benign	Het
Rdh10	T	C	1: 16,178,260 (GRCm39)		probably benign	Het
Rgs9bp	C	A	7: 35,284,458 (GRCm39)	R63L	probably damaging	Het
Slc13a5	A	T	11: 72,149,940 (GRCm39)	V173E	probably benign	Het
Spata31	A	T	13: 65,070,377 (GRCm39)	I842L	probably benign	Het
Stk32b	A	C	5: 37,874,092 (GRCm39)	D13E	probably benign	Het
Svep1	T	C	4: 58,123,192 (GRCm39)	D708G	possibly damaging	Het
Taar6	T	C	10: 23,861,021 (GRCm39)	D175G	probably benign	Het
Thbs1	A	C	2: 117,953,358 (GRCm39)	D925A	probably damaging	Het
Tnr	A	T	1: 159,714,595 (GRCm39)	T825S	probably benign	Het
Ttc23l	A	C	15: 10,551,627 (GRCm39)	L33W	probably damaging	Het
Ttc39d	T	C	17: 80,523,379 (GRCm39)	Y13H	probably benign	Het
Vmn2r102	C	A	17: 19,880,851 (GRCm39)	P64Q	probably damaging	Het
Vps11	G	T	9: 44,267,588 (GRCm39)	Y341*	probably null	Het
Vsig8	T	C	1: 172,387,925 (GRCm39)	V5A	possibly damaging	Het
Vwce	C	T	19: 10,624,177 (GRCm39)	A356V	probably benign	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
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
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'- ACATACCCTTTCCCAAGGGAGTCG -3'
(R):5'- AGCCAAGCCGTTCTACAACTGAG -3'

Sequencing Primer
(F):5'- CCCAAGGGAGTCGTTTTTATTC -3'
(R):5'- CAACTGAGGATGGCCTTGATTAC -3'

Posted On

2013-07-30