Mutagenetix > Incidental Mutation

Incidental Mutation 'R5541:Ucma'

435940

Institutional Source

Beutler Lab

Gene Symbol

Ucma

Ensembl Gene

ENSMUSG00000026668

Gene Name

upper zone of growth plate and cartilage matrix associated

Synonyms

1110017I16Rik

MMRRC Submission

043099-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4980933-4990559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4986141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 105 (R105G)

Ref Sequence

ENSEMBL: ENSMUSP00000110662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027978] [ENSMUST00000115010] [ENSMUST00000167607] [ENSMUST00000195688]

AlphaFold

Q14BU0

Predicted Effect

probably benign
Transcript: ENSMUST00000027978
AA Change: R83G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027978
Gene: ENSMUSG00000026668
AA Change: R83G

Domain	Start	End	E-Value	Type
Pfam:Selenoprotein_S	6	112	5.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115010
AA Change: R105G

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110662
Gene: ENSMUSG00000026668
AA Change: R105G

Domain	Start	End	E-Value	Type
Pfam:UCMA	1	134	2.9e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127282

Predicted Effect

probably benign
Transcript: ENSMUST00000167607

SMART Domains

Protein: ENSMUSP00000126371
Gene: ENSMUSG00000026668

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195688

SMART Domains

Protein: ENSMUSP00000141304
Gene: ENSMUSG00000026668

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: This gene encodes chondrocyte-specific, highly charged proteins that are abundantly expressed during the early stages of chondrogenesis. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Despite the implied role in calcification and ossification, mice lacking the encoded protein do not display significant defects in the skeletal development. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo a similar proteolytic processing to generate mature proteins. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal skeleton phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,061,808 (GRCm39)	K86R	probably benign	Het
Abca13	T	C	11: 9,241,545 (GRCm39)	V1136A	probably benign	Het
Arfgap2	G	A	2: 91,106,114 (GRCm39)	R530H	probably benign	Het
Arhgap30	T	C	1: 171,231,707 (GRCm39)		probably null	Het
Asb7	T	C	7: 66,329,017 (GRCm39)	R8G	probably benign	Het
Bod1l	T	C	5: 41,949,276 (GRCm39)	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,925,918 (GRCm39)	E227G	probably damaging	Het
Cercam	A	G	2: 29,765,641 (GRCm39)	D261G	probably benign	Het
Chd9	A	T	8: 91,778,132 (GRCm39)	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,224,796 (GRCm39)	S126R	probably damaging	Het
Defa17	T	A	8: 22,146,565 (GRCm39)	C64S	probably damaging	Het
Depdc5	A	T	5: 33,021,973 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,076,908 (GRCm39)	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,169,971 (GRCm39)	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,036,162 (GRCm39)	Y416C	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fbxw15	T	G	9: 109,394,498 (GRCm39)	I106L	probably benign	Het
Flacc1	A	G	1: 58,697,588 (GRCm39)	M384T	probably benign	Het
Gm10610	A	G	7: 83,198,614 (GRCm39)		noncoding transcript	Het
Gpr22	A	G	12: 31,759,348 (GRCm39)	F258S	probably damaging	Het
Grip1	A	T	10: 119,908,623 (GRCm39)	I618F	probably damaging	Het
Hspg2	C	T	4: 137,247,862 (GRCm39)	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,270,136 (GRCm39)	Q2365K	probably benign	Het
Intu	A	G	3: 40,647,017 (GRCm39)		probably null	Het
Kdm1b	T	C	13: 47,232,672 (GRCm39)	M714T	probably damaging	Het
Kif21a	A	G	15: 90,852,316 (GRCm39)	M924T	probably damaging	Het
Klb	A	T	5: 65,536,577 (GRCm39)	M636L	probably benign	Het
Klrb1a	G	A	6: 128,586,699 (GRCm39)	H219Y	probably benign	Het
Macroh2a2	T	C	10: 61,583,496 (GRCm39)	I215V	probably benign	Het
Marchf10	C	T	11: 105,280,957 (GRCm39)	D443N	probably damaging	Het
Nos1	A	G	5: 118,043,459 (GRCm39)	E578G	probably damaging	Het
Or8b39	T	C	9: 37,996,419 (GRCm39)	C96R	probably damaging	Het
Or9i1	T	C	19: 13,839,328 (GRCm39)	I57T	probably benign	Het
Pard3b	A	G	1: 61,678,502 (GRCm39)	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,684,856 (GRCm39)	V441E	probably damaging	Het
Pde6g	A	T	11: 120,338,998 (GRCm39)	I64N	probably damaging	Het
Pdia4	C	T	6: 47,773,571 (GRCm39)	V593M	probably damaging	Het
Pnn	T	G	12: 59,118,716 (GRCm39)	V433G	possibly damaging	Het
Rbak	G	A	5: 143,159,745 (GRCm39)	S436F	probably damaging	Het
Rpl11	A	G	4: 135,780,043 (GRCm39)		probably benign	Het
Ryr1	G	T	7: 28,785,610 (GRCm39)	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,154,977 (GRCm39)	T661S	probably benign	Het
Smg1	T	A	7: 117,756,386 (GRCm39)		probably benign	Het
St8sia2	T	C	7: 73,616,648 (GRCm39)	D109G	probably benign	Het
Stk-ps1	T	A	17: 36,709,105 (GRCm39)		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,535,334 (GRCm39)		noncoding transcript	Het
Taf1d	T	A	9: 15,220,146 (GRCm39)	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,284,250 (GRCm39)	S35G	possibly damaging	Het
Tnk2	C	T	16: 32,488,341 (GRCm39)	T198I	probably benign	Het
Trappc2b	T	C	11: 51,576,796 (GRCm39)	H34R	probably benign	Het
Ube2q2	T	A	9: 55,099,163 (GRCm39)	V168E	possibly damaging	Het
Vmn2r97	C	T	17: 19,148,617 (GRCm39)	Q171*	probably null	Het
Wapl	T	C	14: 34,452,619 (GRCm39)		probably null	Het
Zfand4	T	A	6: 116,291,256 (GRCm39)	C397S	possibly damaging	Het
Zfhx3	A	G	8: 109,675,583 (GRCm39)	N2211S	probably damaging	Het
Zfp143	G	T	7: 109,669,687 (GRCm39)	G39C	probably benign	Het
Zfp568	T	A	7: 29,722,301 (GRCm39)	D414E	possibly damaging	Het
Zfp574	C	T	7: 24,781,375 (GRCm39)	A799V	probably damaging	Het

Other mutations in Ucma

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Ucma	APN	2	4,986,042 (GRCm39)	intron	probably benign
IGL02412:Ucma	APN	2	4,981,636 (GRCm39)	missense	probably damaging	1.00
R4672:Ucma	UTSW	2	4,981,465 (GRCm39)	critical splice acceptor site	probably null
R7406:Ucma	UTSW	2	4,990,170 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTCAGCAAAACCCGTGACC -3'
(R):5'- ACAACATCTTAAGTCTGCATAGCC -3'

Sequencing Primer
(F):5'- TTCACCAGGTCTAGCTTCTCAGG -3'
(R):5'- AAGTCTGCATAGCCATTTTTGTG -3'

Posted On

2016-10-24