Incidental Mutation 'IGL02638:Ubtd1'
ID301600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubtd1
Ensembl Gene ENSMUSG00000025171
Gene Nameubiquitin domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL02638
Quality Score
Status
Chromosome19
Chromosomal Location41981763-42034641 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 42033670 bp
ZygosityHeterozygous
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]
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
9530077C05Rik A T 9: 22,430,479 K149* probably null Het
A830010M20Rik T C 5: 107,508,556 V895A possibly damaging Het
Alkbh3 T A 2: 94,008,113 T38S probably benign Het
BC055324 G A 1: 163,959,299 Q734* probably null Het
Cdkn2c A G 4: 109,665,012 probably benign Het
Clca4b A C 3: 144,926,178 C189G probably damaging Het
Clec4f T A 6: 83,652,700 N292I possibly damaging Het
Dkk3 A C 7: 112,149,027 S123R probably benign Het
Dock1 C T 7: 135,146,480 A1557V probably benign Het
E130308A19Rik C T 4: 59,719,676 Q403* probably null Het
F5 G A 1: 164,184,608 probably null Het
Fam98c T A 7: 29,152,762 D326V probably damaging Het
Frem2 A C 3: 53,551,346 V2034G possibly damaging Het
Galnt2 G A 8: 124,231,579 G18D probably damaging Het
Gm8394 T C 10: 85,313,834 noncoding transcript Het
Grhl3 T C 4: 135,556,865 E222G probably benign Het
Hif3a A C 7: 17,044,368 probably benign Het
Ibtk C T 9: 85,719,893 G755D probably damaging Het
Laptm4b A G 15: 34,277,484 N187S probably benign Het
Lrba A G 3: 86,325,073 T776A probably damaging Het
Mfhas1 T A 8: 35,590,950 W860R possibly damaging Het
Mon2 A C 10: 123,023,939 W811G probably damaging Het
Nupl2 A G 5: 24,175,507 T167A probably benign Het
Olfr1062 T C 2: 86,423,677 probably null Het
Olfr1128 T C 2: 87,544,749 Y265C probably damaging Het
Olfr1295 T C 2: 111,564,904 D180G probably damaging Het
Olfr30 C A 11: 58,455,047 A301S probably damaging Het
Olfr418 A G 1: 173,270,331 D52G probably benign Het
Pgap2 T C 7: 102,237,422 L217P probably damaging Het
Pik3c2b T G 1: 133,077,318 probably benign Het
Ppfia3 T A 7: 45,356,668 D149V probably damaging Het
Prkcb C T 7: 122,600,840 probably benign Het
Prl A G 13: 27,061,579 D97G probably benign Het
Rnf112 T C 11: 61,449,405 probably benign Het
Slc17a8 C A 10: 89,576,603 G323* probably null Het
Snx19 T C 9: 30,432,364 F607L possibly damaging Het
Suco A G 1: 161,827,687 S1079P probably damaging Het
Taf5 T C 19: 47,068,210 L149P probably benign Het
Taf6l T C 19: 8,775,266 M379V probably benign Het
Tcf25 T C 8: 123,399,292 F558L probably damaging Het
Tlcd1 T C 11: 78,179,618 V102A probably benign Het
Tmc5 G T 7: 118,627,233 A274S probably benign Het
Toporsl C T 4: 52,611,624 H506Y probably benign Het
Usp24 A C 4: 106,438,770 probably benign Het
Usp24 C A 4: 106,438,772 probably benign Het
Usp43 T G 11: 67,855,755 D1042A probably benign Het
Whrn T C 4: 63,419,472 T48A possibly damaging Het
Wnt2b A G 3: 104,954,716 I102T probably benign Het
Zfp763 T C 17: 33,019,934 D79G probably benign Het
Zmat4 A G 8: 23,797,373 Y45C probably damaging Het
Other mutations in Ubtd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0255:Ubtd1 UTSW 19 42031934 missense possibly damaging 0.73
R0927:Ubtd1 UTSW 19 42032021 nonsense probably null
R4007:Ubtd1 UTSW 19 42032116 nonsense probably null
R4610:Ubtd1 UTSW 19 42033664 missense probably damaging 1.00
R4611:Ubtd1 UTSW 19 42033591 missense probably benign 0.01
Posted On2015-04-16