Mutagenetix > Incidental Mutation

Incidental Mutation 'R5033:Dym'

389418

Institutional Source

Beutler Lab

Gene Symbol

Dym

Ensembl Gene

ENSMUSG00000035765

Gene Name

dymeclin

Synonyms

1810041M12Rik, C030019K18Rik, 4933427L07Rik

MMRRC Submission

042624-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75151852-75420035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75252232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 333 (N333D)

Ref Sequence

ENSEMBL: ENSMUSP00000047054 (fasta)

Gene Model

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

AlphaFold

Q8CHY3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039608
AA Change: N333D

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047054
Gene: ENSMUSG00000035765
AA Change: N333D

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
9930111J21Rik1	G	A	11: 48,838,533 (GRCm39)	R685W	probably damaging	Het
Arhgap10	A	T	8: 78,109,386 (GRCm39)	L399H	probably damaging	Het
Arih2	AGCCG	AG	9: 108,488,859 (GRCm39)		probably benign	Het
Atp13a2	A	G	4: 140,728,132 (GRCm39)	H575R	possibly damaging	Het
Bbof1	G	A	12: 84,458,044 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,105,838 (GRCm39)	E788G	probably damaging	Het
Catsperg2	A	C	7: 29,409,559 (GRCm39)	Y545D	possibly damaging	Het
Cdc42bpa	T	A	1: 179,892,580 (GRCm39)	I248N	probably damaging	Het
Cdk11b	A	T	4: 155,733,282 (GRCm39)		probably benign	Het
Cfap46	C	A	7: 139,183,776 (GRCm39)	L90F	probably benign	Het
Cndp2	A	G	18: 84,688,954 (GRCm39)	L276P	possibly damaging	Het
Col3a1	A	C	1: 45,385,270 (GRCm39)	D129A	probably damaging	Het
Daam1	C	A	12: 71,993,294 (GRCm39)	H354Q	unknown	Het
Dnah5	T	A	15: 28,421,824 (GRCm39)	F3892Y	probably damaging	Het
Dnajb3	A	G	1: 88,132,745 (GRCm39)	V219A	possibly damaging	Het
Drd5	A	G	5: 38,477,544 (GRCm39)	H179R	probably damaging	Het
Eif2b3	A	G	4: 116,909,933 (GRCm39)	D156G	probably damaging	Het
Emc1	A	G	4: 139,099,007 (GRCm39)	D830G	probably damaging	Het
F13a1	A	C	13: 37,172,830 (GRCm39)	I183M	probably damaging	Het
Fam136b-ps	T	A	15: 31,277,043 (GRCm39)		probably benign	Het
Fdft1	C	A	14: 63,400,853 (GRCm39)	K93N	probably damaging	Het
Garre1	C	T	7: 33,945,237 (GRCm39)	G336S	probably benign	Het
Gcc2	A	G	10: 58,114,628 (GRCm39)	D959G	probably damaging	Het
Gp2	A	G	7: 119,053,514 (GRCm39)	V149A	probably damaging	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Hdac9	A	T	12: 34,423,906 (GRCm39)	C587S	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Iars2	A	G	1: 185,050,125 (GRCm39)	V453A	possibly damaging	Het
Il1r1	T	G	1: 40,332,684 (GRCm39)	C121W	probably damaging	Het
Inhca	A	G	9: 103,156,613 (GRCm39)	V149A	probably benign	Het
Jazf1	A	G	6: 52,754,525 (GRCm39)	Y184H	probably damaging	Het
Kel	A	T	6: 41,675,989 (GRCm39)	Y234N	probably damaging	Het
Khk	G	A	5: 31,087,004 (GRCm39)	G186D	probably damaging	Het
Klf4	A	T	4: 55,530,301 (GRCm39)	M270K	probably benign	Het
Kmt2c	G	A	5: 25,519,706 (GRCm39)	L2135F	probably benign	Het
Krtap15-1	A	G	16: 88,626,044 (GRCm39)	Y37C	probably damaging	Het
Lars1	A	G	18: 42,347,841 (GRCm39)	F994S	possibly damaging	Het
Ldc1	C	T	4: 130,115,408 (GRCm39)		probably null	Het
Lrp8	T	C	4: 107,691,952 (GRCm39)		probably null	Het
Lrrc2	A	T	9: 110,809,987 (GRCm39)	D341V	probably damaging	Het
Map4k4	A	G	1: 40,046,662 (GRCm39)	K646R	probably damaging	Het
Mrps9	T	A	1: 42,934,491 (GRCm39)		probably null	Het
Or10ag60	T	A	2: 87,438,055 (GRCm39)	C108S	probably damaging	Het
Or11h6	T	A	14: 50,880,619 (GRCm39)	Y288N	probably damaging	Het
Or8c20	C	T	9: 38,260,924 (GRCm39)	H176Y	probably damaging	Het
Pcnt	A	T	10: 76,235,779 (GRCm39)	C1401S	possibly damaging	Het
Pdgfrb	A	T	18: 61,210,740 (GRCm39)	K749M	probably damaging	Het
Pigo	A	T	4: 43,019,412 (GRCm39)	W969R	probably null	Het
Pigr	A	T	1: 130,772,436 (GRCm39)	Y218F	probably damaging	Het
Pih1d1	A	G	7: 44,804,278 (GRCm39)		probably benign	Het
Pik3cg	A	T	12: 32,249,195 (GRCm39)		probably null	Het
Pik3r6	A	T	11: 68,424,294 (GRCm39)	K300*	probably null	Het
Pip5k1c	A	G	10: 81,141,084 (GRCm39)	D64G	probably damaging	Het
Piwil2	A	T	14: 70,659,042 (GRCm39)	I161K	possibly damaging	Het
Pou3f1	A	G	4: 124,552,449 (GRCm39)	E317G	probably damaging	Het
Prdm8	C	T	5: 98,333,071 (GRCm39)	Q213*	probably null	Het
Prpf6	T	A	2: 181,291,899 (GRCm39)	C739S	possibly damaging	Het
Psmc3	T	A	2: 90,884,953 (GRCm39)	S40T	probably benign	Het
Psmd3	A	T	11: 98,573,650 (GRCm39)	D32V	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rapgef6	A	T	11: 54,582,207 (GRCm39)	H1373L	possibly damaging	Het
Rnf207	A	C	4: 152,397,666 (GRCm39)	S328A	probably benign	Het
Ros1	C	T	10: 52,004,512 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,602,140 (GRCm39)	I4581F	possibly damaging	Het
Sacm1l	C	T	9: 123,415,464 (GRCm39)	R480W	probably damaging	Het
Sec16a	A	G	2: 26,309,661 (GRCm39)	V664A	probably benign	Het
Selenoo	T	A	15: 88,976,969 (GRCm39)	M207K	probably damaging	Het
Sh3tc2	G	A	18: 62,147,962 (GRCm39)		probably null	Het
Slc28a2b	T	A	2: 122,353,395 (GRCm39)		probably null	Het
Slco2b1	G	T	7: 99,309,256 (GRCm39)	Q692K	probably benign	Het
Slfn4	A	T	11: 83,077,623 (GRCm39)	D137V	probably damaging	Het
Srrm2	G	A	17: 24,039,592 (GRCm39)	A2175T	probably damaging	Het
Stard9	T	A	2: 120,523,880 (GRCm39)	C692S	probably benign	Het
Sulf2	T	A	2: 165,923,542 (GRCm39)	D559V	probably benign	Het
Tbpl2	T	C	2: 23,977,170 (GRCm39)	I283V	probably benign	Het
Tmem19	A	G	10: 115,195,666 (GRCm39)	F46S	probably benign	Het
Trp63	T	A	16: 25,582,056 (GRCm39)	Y35N	probably damaging	Het
Ttn	T	A	2: 76,716,786 (GRCm39)		probably benign	Het
Ube2z	A	T	11: 95,941,148 (GRCm39)	H331Q	probably benign	Het
Ubr1	C	T	2: 120,742,478 (GRCm39)		probably null	Het
Vmn1r235	A	T	17: 21,482,550 (GRCm39)	I292F	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,501 (GRCm39)	D787E	probably damaging	Het
Vmn2r3	A	G	3: 64,167,220 (GRCm39)	V637A	probably benign	Het
Xpnpep1	C	A	19: 52,994,606 (GRCm39)	V341L	probably benign	Het
Yme1l1	A	G	2: 23,084,759 (GRCm39)	D619G	probably damaging	Het
Zfp597	G	A	16: 3,684,502 (GRCm39)	P85S	probably damaging	Het
Zscan20	A	G	4: 128,479,921 (GRCm39)	S857P	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
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
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'- GGGATCAATAGTTGTAGTCAGTGC -3'
(R):5'- TGAGCACTCTGAGCCTCTTG -3'

Sequencing Primer
(F):5'- CAATAGTTGTAGTCAGTGCTTCAG -3'
(R):5'- ACTCTGAGCCTCTTGGGAAAG -3'

Posted On

2016-06-06