Incidental Mutation 'R4007:Ubtd1'
ID 311549
Institutional Source Beutler Lab
Gene Symbol Ubtd1
Ensembl Gene ENSMUSG00000025171
Gene Name ubiquitin domain containing 1
Synonyms
MMRRC Submission 041610-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R4007 (G1)
Quality Score 88
Status Validated
Chromosome 19
Chromosomal Location 41970202-42023082 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 42020555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 100 (G100*)
Ref Sequence ENSEMBL: ENSMUSP00000026170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026170] [ENSMUST00000026172]
AlphaFold Q91WB7
Predicted Effect probably null
Transcript: ENSMUST00000026170
AA Change: G100*
SMART Domains Protein: ENSMUSP00000026170
Gene: ENSMUSG00000025171
AA Change: G100*

DomainStartEndE-ValueType
Pfam:UBD 25 129 2.9e-40 PFAM
UBQ 149 220 4.66e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000026172
SMART Domains Protein: ENSMUSP00000026172
Gene: ENSMUSG00000025172

DomainStartEndE-ValueType
low complexity region 104 111 N/A INTRINSIC
ANK 149 178 5.24e-4 SMART
ANK 182 211 5.79e-6 SMART
ANK 215 244 1.33e-5 SMART
ANK 248 277 3.18e-3 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The degradation of many proteins is carried out by the ubiquitin pathway in which proteins are targeted for degradation by covalent conjugation of the polypeptide ubiquitin. This gene encodes a protein that belongs to the ubiquitin family of proteins. The encoded protein is thought to regulate E2 ubiquitin conjugating enzymes belonging to the UBE2D family. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,895,524 (GRCm39) probably null Het
Aff1 A T 5: 103,932,088 (GRCm39) K243N probably benign Het
Aknad1 T C 3: 108,682,598 (GRCm39) I558T probably benign Het
Ampd1 A G 3: 102,999,776 (GRCm39) I460V probably damaging Het
Atp10b A T 11: 43,150,679 (GRCm39) H1459L probably benign Het
Card9 T A 2: 26,243,012 (GRCm39) R459W possibly damaging Het
Chd3 A T 11: 69,239,827 (GRCm39) I1667N probably benign Het
Col6a3 A G 1: 90,730,291 (GRCm39) S1672P probably damaging Het
Cul4a A G 8: 13,172,859 (GRCm39) N164S probably benign Het
Dhx37 G A 5: 125,501,995 (GRCm39) probably benign Het
Dnah1 T C 14: 31,025,741 (GRCm39) probably benign Het
Elp1 G A 4: 56,794,139 (GRCm39) T168I probably damaging Het
Erbb4 C A 1: 68,779,560 (GRCm39) R72L probably damaging Het
F11r A G 1: 171,288,916 (GRCm39) K178R probably benign Het
Fan1 A G 7: 64,016,309 (GRCm39) L605P probably damaging Het
Fcna A G 2: 25,516,018 (GRCm39) probably null Het
Filip1 A G 9: 79,726,009 (GRCm39) I870T possibly damaging Het
Gm11595 C T 11: 99,662,861 (GRCm39) C273Y unknown Het
Gml T A 15: 74,685,548 (GRCm39) I146L possibly damaging Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Htr2a A T 14: 74,879,581 (GRCm39) H70L probably benign Het
Ifitm6 T A 7: 140,596,627 (GRCm39) I69F possibly damaging Het
Iqsec3 A G 6: 121,353,187 (GRCm39) S1144P probably damaging Het
Kazn T C 4: 141,834,203 (GRCm39) T618A unknown Het
Mrps5 C A 2: 127,433,755 (GRCm39) T48K possibly damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Opn4 A T 14: 34,321,789 (GRCm39) S43T probably benign Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Plcb2 T C 2: 118,541,274 (GRCm39) E1021G probably damaging Het
Pramex1 A T X: 134,514,374 (GRCm39) L305Q probably damaging Het
Rbsn T A 6: 92,166,800 (GRCm39) T615S probably benign Het
Reg1 A G 6: 78,404,013 (GRCm39) D60G probably null Het
Ros1 A T 10: 51,994,328 (GRCm39) D1317E probably damaging Het
Rpap2 A G 5: 107,751,738 (GRCm39) I129V probably damaging Het
Rubcnl G T 14: 75,287,143 (GRCm39) V604L possibly damaging Het
Slc26a4 T A 12: 31,590,532 (GRCm39) K374* probably null Het
Slc4a4 T A 5: 89,362,452 (GRCm39) S854R probably damaging Het
Sv2c A G 13: 96,123,341 (GRCm39) probably benign Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tnik A G 3: 28,658,430 (GRCm39) S572G probably damaging Het
Trbv13-3 T C 6: 41,107,120 (GRCm39) C14R probably benign Het
Ttc7 G A 17: 87,597,679 (GRCm39) D84N possibly damaging Het
Vmn2r18 A T 5: 151,508,711 (GRCm39) W138R probably damaging Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zfp385b C T 2: 77,549,836 (GRCm39) G83D probably benign Het
Zfp493 A G 13: 67,932,038 (GRCm39) probably benign Het
Other mutations in Ubtd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02638:Ubtd1 APN 19 42,022,109 (GRCm39) missense possibly damaging 0.93
R0255:Ubtd1 UTSW 19 42,020,373 (GRCm39) missense possibly damaging 0.73
R0927:Ubtd1 UTSW 19 42,020,460 (GRCm39) nonsense probably null
R4610:Ubtd1 UTSW 19 42,022,103 (GRCm39) missense probably damaging 1.00
R4611:Ubtd1 UTSW 19 42,022,030 (GRCm39) missense probably benign 0.01
R7948:Ubtd1 UTSW 19 42,022,174 (GRCm39) missense probably benign 0.00
R8429:Ubtd1 UTSW 19 42,020,556 (GRCm39) critical splice donor site probably null
R8806:Ubtd1 UTSW 19 42,022,195 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGCAATGAGCCCTTGAAGAAG -3'
(R):5'- GTGCTTCTTTGTTCATGCCATAAAG -3'

Sequencing Primer
(F):5'- GAGTGACTATCCCATGACTGATG -3'
(R):5'- CATGCCATAAAGAGTCATTTAAACG -3'
Posted On 2015-04-29