Incidental Mutation 'R8395:Ubd'
ID 647589
Institutional Source Beutler Lab
Gene Symbol Ubd
Ensembl Gene ENSMUSG00000035186
Gene Name ubiquitin D
Synonyms FAT10, Diubiquitin
MMRRC Submission 067759-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8395 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 37504783-37506986 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37506249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 45 (Q45L)
Ref Sequence ENSEMBL: ENSMUSP00000035808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038844] [ENSMUST00000055324] [ENSMUST00000222190]
AlphaFold P63072
Predicted Effect probably damaging
Transcript: ENSMUST00000038844
AA Change: Q45L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035808
Gene: ENSMUSG00000035186
AA Change: Q45L

DomainStartEndE-ValueType
UBQ 5 76 8.61e-9 SMART
UBQ 88 158 9.23e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000055324
SMART Domains Protein: ENSMUSP00000055232
Gene: ENSMUSG00000043827

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:7tm_4 105 382 6.5e-39 PFAM
Pfam:7TM_GPCR_Srsx 109 220 2.1e-9 PFAM
Pfam:7tm_1 115 365 3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222190
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice hompzygous for disruptions in this gene show an increased susceptibility to low doses of endotoxin and increased apoptosis among lymphocytes but are otherwise normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,218,280 (GRCm39) E352G possibly damaging Het
Ascc3 T C 10: 50,525,400 (GRCm39) F532L possibly damaging Het
Bckdk G A 7: 127,507,139 (GRCm39) V328I probably benign Het
Cenpu T C 8: 47,007,084 (GRCm39) Y26H probably benign Het
Clk3 A T 9: 57,672,445 (GRCm39) V119E probably benign Het
Cnn2 A G 10: 79,828,293 (GRCm39) N90S probably benign Het
Dlk2 T C 17: 46,611,969 (GRCm39) I78T probably damaging Het
Ercc8 G T 13: 108,323,788 (GRCm39) E367* probably null Het
Gbp9 A T 5: 105,228,069 (GRCm39) I571K probably damaging Het
Gm3404 T C 5: 146,462,724 (GRCm39) I29T possibly damaging Het
Gpat4 GTGTT GT 8: 23,669,498 (GRCm39) probably benign Het
Heatr5a A G 12: 51,962,961 (GRCm39) S74P Het
Htr6 T G 4: 138,789,078 (GRCm39) M326L possibly damaging Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Ippk A G 13: 49,615,096 (GRCm39) E493G probably damaging Het
Kiz A G 2: 146,794,949 (GRCm39) N603S possibly damaging Het
Limch1 A T 5: 67,126,394 (GRCm39) K7N probably damaging Het
Lrp1b C T 2: 40,547,411 (GRCm39) C4257Y Het
Map4k5 C G 12: 69,877,203 (GRCm39) R381T probably null Het
Map9 A G 3: 82,289,276 (GRCm39) I455V probably benign Het
Mpped1 T C 15: 83,684,257 (GRCm39) V93A probably damaging Het
Myh10 T C 11: 68,682,842 (GRCm39) L1129P probably damaging Het
Neb T A 2: 52,065,645 (GRCm39) M6196L probably benign Het
Neb C A 2: 52,147,806 (GRCm39) V2738F probably damaging Het
Or10ad1 A G 15: 98,105,500 (GRCm39) V255A probably benign Het
Or8k18 G A 2: 86,085,878 (GRCm39) S53F possibly damaging Het
Sgf29 T A 7: 126,271,837 (GRCm39) C287* probably null Het
Siglece A G 7: 43,305,523 (GRCm39) V398A probably benign Het
Slc43a1 T C 2: 84,671,266 (GRCm39) L67P probably damaging Het
Slco2a1 A G 9: 102,954,239 (GRCm39) H470R probably benign Het
Spata31d1e A G 13: 59,889,540 (GRCm39) V760A probably benign Het
Syngr1 T C 15: 79,997,445 (GRCm39) S188P probably benign Het
Trpm4 T C 7: 44,958,634 (GRCm39) D885G probably benign Het
Unc45a A T 7: 79,976,080 (GRCm39) C800S probably benign Het
Vmn2r112 A G 17: 22,837,587 (GRCm39) T683A possibly damaging Het
Vmn2r25 T A 6: 123,799,982 (GRCm39) T787S possibly damaging Het
Vmn2r85 G A 10: 130,261,797 (GRCm39) P180L probably damaging Het
Vtcn1 T C 3: 100,791,070 (GRCm39) F36S probably benign Het
Wdr86 A G 5: 24,935,187 (GRCm39) L52P probably damaging Het
Xpo4 A T 14: 57,885,924 (GRCm39) S43T probably benign Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Other mutations in Ubd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02626:Ubd APN 17 37,506,573 (GRCm39) missense probably damaging 1.00
IGL02668:Ubd APN 17 37,506,420 (GRCm39) missense probably benign 0.07
IGL02725:Ubd APN 17 37,504,853 (GRCm39) missense probably benign 0.14
PIT4696001:Ubd UTSW 17 37,506,335 (GRCm39) missense probably damaging 1.00
R1163:Ubd UTSW 17 37,506,212 (GRCm39) missense probably damaging 0.99
R4731:Ubd UTSW 17 37,506,593 (GRCm39) missense probably benign 0.05
R4732:Ubd UTSW 17 37,506,593 (GRCm39) missense probably benign 0.05
R4733:Ubd UTSW 17 37,506,593 (GRCm39) missense probably benign 0.05
R5648:Ubd UTSW 17 37,506,345 (GRCm39) missense probably damaging 1.00
R6332:Ubd UTSW 17 37,506,392 (GRCm39) missense probably benign 0.01
R6346:Ubd UTSW 17 37,506,242 (GRCm39) nonsense probably null
R7687:Ubd UTSW 17 37,504,865 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CAGACTGTTGAGAAGGAGCC -3'
(R):5'- TGAGCTGGATCTTCGAACTC -3'

Sequencing Primer
(F):5'- CCAACCAGGAGAACAGTGAAGC -3'
(R):5'- ATCTTCGAACTCGGAGGAGGTG -3'
Posted On 2020-09-02