Mutagenetix > Incidental Mutation

Incidental Mutation 'R6864:Dym'

535839

Institutional Source

Beutler Lab

Gene Symbol

Dym

Ensembl Gene

ENSMUSG00000035765

Gene Name

dymeclin

Synonyms

1810041M12Rik, C030019K18Rik, 4933427L07Rik

MMRRC Submission

044964-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75151852-75420035 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 75189809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 132 (Y132*)

Ref Sequence

ENSEMBL: ENSMUSP00000047054 (fasta)

Gene Model

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

AlphaFold

Q8CHY3

Predicted Effect

probably null
Transcript: ENSMUST00000039608
AA Change: Y132*

SMART Domains

Protein: ENSMUSP00000047054
Gene: ENSMUSG00000035765
AA Change: Y132*

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	C	T	17: 57,785,879 (GRCm39)	T875I	probably damaging	Het
Anln	A	T	9: 22,293,545 (GRCm39)	S33T	probably benign	Het
Anxa6	T	C	11: 54,877,011 (GRCm39)	T541A	probably benign	Het
Atxn2	C	T	5: 121,917,557 (GRCm39)	R334W	probably damaging	Het
AU040320	T	A	4: 126,741,612 (GRCm39)	V940D	probably damaging	Het
Bcl2	A	T	1: 106,471,011 (GRCm39)	Y232N	probably damaging	Het
Bmp7	A	G	2: 172,781,855 (GRCm39)	V3A	probably benign	Het
Calr	A	T	8: 85,571,557 (GRCm39)	H145Q	probably damaging	Het
Camta2	T	A	11: 70,562,792 (GRCm39)	T976S	probably benign	Het
Ccnk	G	A	12: 108,168,473 (GRCm39)		probably benign	Het
Cntln	T	C	4: 85,015,029 (GRCm39)	S1107P	probably damaging	Het
Cradd	T	C	10: 95,011,789 (GRCm39)	D117G	probably damaging	Het
Dcaf7	C	T	11: 105,937,647 (GRCm39)	T90I	probably damaging	Het
Defb30	T	A	14: 63,273,552 (GRCm39)		probably null	Het
Dock4	T	A	12: 40,795,745 (GRCm39)	I854N	probably damaging	Het
Eef1a2	T	C	2: 180,791,477 (GRCm39)	T341A	probably benign	Het
Eml2	T	C	7: 18,930,206 (GRCm39)	V309A	probably damaging	Het
Flnb	C	T	14: 7,905,640 (GRCm38)	P1130L	possibly damaging	Het
Hivep3	C	A	4: 119,952,085 (GRCm39)	Q134K	possibly damaging	Het
Kbtbd2	T	A	6: 56,757,011 (GRCm39)	K242*	probably null	Het
Kel	A	G	6: 41,680,694 (GRCm39)		probably null	Het
Lcorl	T	A	5: 45,904,546 (GRCm39)	K177N	probably damaging	Het
Mbd3l2	A	G	9: 18,354,795 (GRCm39)		probably benign	Het
Mcm3ap	A	G	10: 76,343,313 (GRCm39)	D1735G	probably damaging	Het
Ms4a1	C	A	19: 11,230,542 (GRCm39)		probably null	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mylk	C	A	16: 34,694,520 (GRCm39)	P193Q	probably benign	Het
Or1j11	T	A	2: 36,311,832 (GRCm39)	C141S	probably damaging	Het
Or2y16	G	T	11: 49,334,767 (GRCm39)	A30S	probably benign	Het
Or2y17	A	T	11: 49,231,580 (GRCm39)	T74S	probably damaging	Het
Or4d10b	A	T	19: 12,036,777 (GRCm39)	F113Y	probably damaging	Het
Or4f52	C	T	2: 111,061,542 (GRCm39)	V199I	probably benign	Het
Otogl	C	T	10: 107,663,667 (GRCm39)	S968N	probably damaging	Het
Oxr1	T	G	15: 41,686,783 (GRCm39)	V555G	probably damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Peg3	T	C	7: 6,715,761 (GRCm39)	Y103C	probably damaging	Het
Plekhh2	T	C	17: 84,925,427 (GRCm39)	V1408A	probably benign	Het
Prkacb	T	C	3: 146,451,133 (GRCm39)	Y204C	probably damaging	Het
Prkch	A	G	12: 73,806,391 (GRCm39)	E546G	probably damaging	Het
Prss12	C	A	3: 123,241,033 (GRCm39)	H76N	probably benign	Het
Rai14	G	T	15: 10,633,254 (GRCm39)	S45R	possibly damaging	Het
Samd9l	T	A	6: 3,374,750 (GRCm39)	D837V	probably benign	Het
Slc22a6	G	T	19: 8,595,805 (GRCm39)	C49F	probably damaging	Het
Slc2a2	T	A	3: 28,775,874 (GRCm39)	I328N	probably damaging	Het
Slc35f4	T	C	14: 49,556,310 (GRCm39)	I148V	possibly damaging	Het
Stk32b	A	T	5: 37,606,149 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,115 (GRCm39)	F525I	probably damaging	Het
Tktl2	T	C	8: 66,964,991 (GRCm39)	I183T	probably damaging	Het
Tmem175	A	C	5: 108,793,845 (GRCm39)	H325P	probably damaging	Het
Tns3	A	G	11: 8,443,196 (GRCm39)	V389A	probably damaging	Het
Trappc9	A	T	15: 72,809,011 (GRCm39)		probably null	Het
Trim28	T	A	7: 12,763,385 (GRCm39)	F509I	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,713 (GRCm39)	Q191L	probably benign	Het
Vmn2r24	A	T	6: 123,756,117 (GRCm39)	D63V	possibly damaging	Het
Zfp536	A	G	7: 37,267,940 (GRCm39)	L492P	probably damaging	Het
Zfp831	C	A	2: 174,488,533 (GRCm39)	N1069K	possibly damaging	Het
Zfp943	T	A	17: 22,211,593 (GRCm39)	H226Q	probably 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
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
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'- AAACCGCCCTTGCCTACG -3'
(R):5'- TCAAAGTCCATGCTTAACTGCTGA -3'

Sequencing Primer
(F):5'- CTTGCCTACGATGAACTACTGAAGG -3'
(R):5'- CAGGTGTGTGTGTGATGAGCAG -3'

Posted On

2018-10-18