Incidental Mutation 'IGL02638:Ubtd1'
ID 301600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubtd1
Ensembl Gene ENSMUSG00000025171
Gene Name ubiquitin domain containing 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # IGL02638
Quality Score
Status
Chromosome 19
Chromosomal Location 41970202-42023082 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42022109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 127 (L127P)
Ref Sequence ENSEMBL: ENSMUSP00000026170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026170] [ENSMUST00000026172]
AlphaFold Q91WB7
Predicted Effect possibly damaging
Transcript: ENSMUST00000026170
AA Change: L127P

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026170
Gene: ENSMUSG00000025171
AA Change: L127P

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
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh3 T A 2: 93,838,458 (GRCm39) T38S probably benign Het
Btbd8 T C 5: 107,656,422 (GRCm39) V895A possibly damaging Het
Cdkn2c A G 4: 109,522,209 (GRCm39) probably benign Het
Clca4b A C 3: 144,631,939 (GRCm39) C189G probably damaging Het
Clec4f T A 6: 83,629,682 (GRCm39) N292I possibly damaging Het
Dkk3 A C 7: 111,748,234 (GRCm39) S123R probably benign Het
Dock1 C T 7: 134,748,209 (GRCm39) A1557V probably benign Het
E130308A19Rik C T 4: 59,719,676 (GRCm39) Q403* probably null Het
F5 G A 1: 164,012,177 (GRCm39) probably null Het
Fam98c T A 7: 28,852,187 (GRCm39) D326V probably damaging Het
Firrm G A 1: 163,786,868 (GRCm39) Q734* probably null Het
Frem2 A C 3: 53,458,767 (GRCm39) V2034G possibly damaging Het
Galnt2 G A 8: 124,958,318 (GRCm39) G18D probably damaging Het
Grhl3 T C 4: 135,284,176 (GRCm39) E222G probably benign Het
Hif3a A C 7: 16,778,293 (GRCm39) probably benign Het
Ibtk C T 9: 85,601,946 (GRCm39) G755D probably damaging Het
Laptm4b A G 15: 34,277,630 (GRCm39) N187S probably benign Het
Lrba A G 3: 86,232,380 (GRCm39) T776A probably damaging Het
Matcap2 A T 9: 22,341,775 (GRCm39) K149* probably null Het
Mfhas1 T A 8: 36,058,104 (GRCm39) W860R possibly damaging Het
Mon2 A C 10: 122,859,844 (GRCm39) W811G probably damaging Het
Nup42 A G 5: 24,380,505 (GRCm39) T167A probably benign Het
Or10j2 A G 1: 173,097,898 (GRCm39) D52G probably benign Het
Or2z2 C A 11: 58,345,873 (GRCm39) A301S probably damaging Het
Or4k45 T C 2: 111,395,249 (GRCm39) D180G probably damaging Het
Or5w10 T C 2: 87,375,093 (GRCm39) Y265C probably damaging Het
Or8j3c T C 2: 86,254,021 (GRCm39) probably null Het
Pgap2 T C 7: 101,886,629 (GRCm39) L217P probably damaging Het
Pik3c2b T G 1: 133,005,056 (GRCm39) probably benign Het
Ppfia3 T A 7: 45,006,092 (GRCm39) D149V probably damaging Het
Prkcb C T 7: 122,200,063 (GRCm39) probably benign Het
Prl A G 13: 27,245,562 (GRCm39) D97G probably benign Het
Psma5-ps T C 10: 85,149,698 (GRCm39) noncoding transcript Het
Rnf112 T C 11: 61,340,231 (GRCm39) probably benign Het
Slc17a8 C A 10: 89,412,465 (GRCm39) G323* probably null Het
Snx19 T C 9: 30,343,660 (GRCm39) F607L possibly damaging Het
Suco A G 1: 161,655,256 (GRCm39) S1079P probably damaging Het
Taf5 T C 19: 47,056,649 (GRCm39) L149P probably benign Het
Taf6l T C 19: 8,752,630 (GRCm39) M379V probably benign Het
Tcf25 T C 8: 124,126,031 (GRCm39) F558L probably damaging Het
Tlcd1 T C 11: 78,070,444 (GRCm39) V102A probably benign Het
Tmc5 G T 7: 118,226,456 (GRCm39) A274S probably benign Het
Toporsl C T 4: 52,611,624 (GRCm39) H506Y probably benign Het
Usp24 A C 4: 106,295,967 (GRCm39) probably benign Het
Usp24 C A 4: 106,295,969 (GRCm39) probably benign Het
Usp43 T G 11: 67,746,581 (GRCm39) D1042A probably benign Het
Whrn T C 4: 63,337,709 (GRCm39) T48A possibly damaging Het
Wnt2b A G 3: 104,862,032 (GRCm39) I102T probably benign Het
Zfp763 T C 17: 33,238,908 (GRCm39) D79G probably benign Het
Zmat4 A G 8: 24,287,389 (GRCm39) Y45C probably damaging Het
Other mutations in Ubtd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0255:Ubtd1 UTSW 19 42,020,373 (GRCm39) missense possibly damaging 0.73
R0927:Ubtd1 UTSW 19 42,020,460 (GRCm39) nonsense probably null
R4007:Ubtd1 UTSW 19 42,020,555 (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
Posted On 2015-04-16