Incidental Mutation 'R7406:Ucma'
ID 574719
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 045487-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7406 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 4980933-4990559 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 4990170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 122 (W122*)
Ref Sequence ENSEMBL: ENSMUSP00000110662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027978] [ENSMUST00000102985] [ENSMUST00000115010] [ENSMUST00000167607] [ENSMUST00000195688]
AlphaFold Q14BU0
Predicted Effect probably null
Transcript: ENSMUST00000027978
AA Change: W100*
SMART Domains Protein: ENSMUSP00000027978
Gene: ENSMUSG00000026668
AA Change: W100*

DomainStartEndE-ValueType
Pfam:Selenoprotein_S 6 112 5.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102985
SMART Domains Protein: ENSMUSP00000100050
Gene: ENSMUSG00000026669

DomainStartEndE-ValueType
coiled coil region 102 138 N/A INTRINSIC
low complexity region 218 228 N/A INTRINSIC
Pfam:zf-primase 398 443 3.7e-21 PFAM
low complexity region 480 493 N/A INTRINSIC
Mcm10 538 883 2.27e-184 SMART
Predicted Effect probably null
Transcript: ENSMUST00000115010
AA Change: W122*
SMART Domains Protein: ENSMUSP00000110662
Gene: ENSMUSG00000026668
AA Change: W122*

DomainStartEndE-ValueType
Pfam:UCMA 1 134 2.9e-73 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000167607
AA Change: W89*
SMART Domains Protein: ENSMUSP00000126371
Gene: ENSMUSG00000026668
AA Change: W89*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000195688
AA Change: W67*
SMART Domains Protein: ENSMUSP00000141304
Gene: ENSMUSG00000026668
AA Change: W67*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (60/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik T C 1: 85,974,231 (GRCm39) S183P possibly damaging Het
2900092C05Rik A G 7: 12,249,391 (GRCm39) T75A possibly damaging Het
Abhd8 A G 8: 71,914,406 (GRCm39) V74A probably benign Het
Agrn A C 4: 156,256,758 (GRCm39) S1282R possibly damaging Het
Atf5 T C 7: 44,462,380 (GRCm39) N248S possibly damaging Het
Atp2a3 A G 11: 72,869,576 (GRCm39) Y497C probably damaging Het
Bpifa2 T G 2: 153,851,739 (GRCm39) S58R probably benign Het
Cacna1h C T 17: 25,604,600 (GRCm39) E1238K possibly damaging Het
Ccdc71 T A 9: 108,340,523 (GRCm39) L112* probably null Het
Cd300e A T 11: 114,946,128 (GRCm39) I111N probably damaging Het
Cdkl3 A T 11: 51,924,369 (GRCm39) E552D probably benign Het
Chst5 A G 8: 112,617,245 (GRCm39) V125A probably benign Het
Clock A T 5: 76,414,692 (GRCm39) M1K probably null Het
Cops7b T A 1: 86,528,852 (GRCm39) L193Q probably benign Het
Csmd1 T C 8: 16,338,707 (GRCm39) T467A probably damaging Het
Ctr9 A G 7: 110,652,615 (GRCm39) E971G unknown Het
Dcp2 A G 18: 44,543,254 (GRCm39) T271A probably benign Het
Dsp A G 13: 38,381,172 (GRCm39) N2639S possibly damaging Het
Fhip1a T C 3: 85,637,784 (GRCm39) I172V probably benign Het
Gm11168 C G 9: 3,006,912 (GRCm39) C212W probably benign Het
Gpr179 G T 11: 97,242,420 (GRCm39) D141E probably damaging Het
H2bc4 A G 13: 23,868,342 (GRCm39) Y43C probably damaging Het
Hdhd2 C T 18: 77,031,811 (GRCm39) T89M probably benign Het
Krt6b T G 15: 101,587,513 (GRCm39) T194P probably benign Het
Lrp1b T C 2: 41,266,030 (GRCm39) probably null Het
Maneal A T 4: 124,754,161 (GRCm39) I214N possibly damaging Het
Map1lc3b T A 8: 122,317,355 (GRCm39) C11S unknown Het
Mapt G A 11: 104,213,350 (GRCm39) G296E possibly damaging Het
Mgam A G 6: 40,640,459 (GRCm39) N509S probably benign Het
Mrgprx1 T A 7: 47,671,733 (GRCm39) I5F possibly damaging Het
Mroh5 T C 15: 73,659,583 (GRCm39) D416G probably benign Het
Ncan T G 8: 70,562,749 (GRCm39) D503A probably benign Het
Nedd1 A T 10: 92,547,185 (GRCm39) probably null Het
Ogdh A G 11: 6,298,351 (GRCm39) T641A probably benign Het
Or2b6 T C 13: 21,823,316 (GRCm39) I126V probably benign Het
Or4k2 T A 14: 50,424,015 (GRCm39) I221F probably damaging Het
Or6c219 A T 10: 129,781,435 (GRCm39) D50E probably benign Het
Or8b1b T A 9: 38,375,439 (GRCm39) M34K possibly damaging Het
Pcdhga8 A C 18: 37,859,238 (GRCm39) Q98P possibly damaging Het
Pik3c2a A G 7: 115,953,242 (GRCm39) Y1218H probably damaging Het
Ppp3cc A T 14: 70,483,387 (GRCm39) S229T possibly damaging Het
Prss43 T G 9: 110,657,764 (GRCm39) I221S probably damaging Het
Rasal1 A T 5: 120,801,002 (GRCm39) T221S probably benign Het
Serpinb9f G T 13: 33,518,543 (GRCm39) E348* probably null Het
Sfxn5 A G 6: 85,244,889 (GRCm39) Y169H probably damaging Het
Skint9 T C 4: 112,246,428 (GRCm39) N228S probably benign Het
Slx4ip A T 2: 136,842,162 (GRCm39) D29V probably damaging Het
Snx29 G T 16: 11,573,180 (GRCm39) G474V probably damaging Het
Spata6 T A 4: 111,638,017 (GRCm39) D282E possibly damaging Het
Srek1 A T 13: 103,905,890 (GRCm39) V77E probably damaging Het
Timd6 A G 11: 46,468,285 (GRCm39) T120A possibly damaging Het
Tmt1a3 T C 15: 100,233,289 (GRCm39) V160A probably benign Het
Tnfrsf22 T C 7: 143,194,564 (GRCm39) D121G probably damaging Het
Vmn2r124 T C 17: 18,282,306 (GRCm39) M113T unknown Het
Vmn2r54 A T 7: 12,350,150 (GRCm39) probably null Het
Vmn2r8 A G 5: 108,948,442 (GRCm39) L482S probably benign Het
Vwa3a T A 7: 120,378,138 (GRCm39) I476N probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdr26 A T 1: 181,015,240 (GRCm39) S390R probably damaging Het
Zbtb40 A T 4: 136,728,205 (GRCm39) S471T probably benign Het
Other mutations in Ucma
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5541:Ucma UTSW 2 4,986,141 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- TGCTGGCAACCACCTATGAC -3'
(R):5'- AACAGAGGGTGTCTTTCCTGG -3'

Sequencing Primer
(F):5'- CCAACCCTGGAAGTCTCATGG -3'
(R):5'- TCCTGGAGCTGTTGACCAG -3'
Posted On 2019-10-07