Incidental Mutation 'R6436:Ubl7'
ID518780
Institutional Source Beutler Lab
Gene Symbol Ubl7
Ensembl Gene ENSMUSG00000055720
Gene Nameubiquitin-like 7 (bone marrow stromal cell-derived)
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.199) question?
Stock #R6436 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location57910979-57929968 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57920510 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 160 (L160P)
Ref Sequence ENSEMBL: ENSMUSP00000149608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163329] [ENSMUST00000213654] [ENSMUST00000216260] [ENSMUST00000216841] [ENSMUST00000216925] [ENSMUST00000217129] [ENSMUST00000217132] [ENSMUST00000217180]
Predicted Effect probably damaging
Transcript: ENSMUST00000163329
AA Change: L160P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126019
Gene: ENSMUSG00000055720
AA Change: L160P

DomainStartEndE-ValueType
UBQ 6 92 3.53e-5 SMART
low complexity region 206 221 N/A INTRINSIC
low complexity region 238 253 N/A INTRINSIC
low complexity region 270 293 N/A INTRINSIC
UBA 338 376 4.92e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000213654
AA Change: L187P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215936
Predicted Effect probably benign
Transcript: ENSMUST00000216260
Predicted Effect probably damaging
Transcript: ENSMUST00000216841
AA Change: L160P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216925
AA Change: L160P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217129
Predicted Effect probably damaging
Transcript: ENSMUST00000217132
AA Change: L160P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217180
Meta Mutation Damage Score 0.5834 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.1%
  • 20x: 93.5%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arc C A 15: 74,672,249 V42L possibly damaging Het
Clip1 C T 5: 123,641,785 E433K probably damaging Het
Cmya5 T C 13: 93,089,215 T3122A probably damaging Het
Ctf2 G T 7: 127,719,431 A92E probably damaging Het
Ctsw G T 19: 5,466,294 R184S possibly damaging Het
D130043K22Rik A G 13: 24,877,935 E629G probably damaging Het
Dmbt1 T C 7: 131,116,641 V1523A probably benign Het
Eml2 G A 7: 19,201,163 V432I probably damaging Het
Fanci T C 7: 79,440,698 I982T probably benign Het
Fnbp1 T C 2: 31,096,127 D3G probably damaging Het
Gm10770 G A 2: 150,178,910 T229I probably benign Het
Gm35315 G A 5: 110,078,712 T287I probably benign Het
Itgb3 T A 11: 104,633,492 D151E probably damaging Het
Lcn8 A T 2: 25,654,978 probably null Het
Ninl A G 2: 150,966,178 L310P probably damaging Het
Nop2 A G 6: 125,137,311 D215G probably benign Het
Olfr1426 T C 19: 12,087,935 T286A probably benign Het
Olfr788 A G 10: 129,472,904 T71A probably damaging Het
Parg T C 14: 32,271,677 W289R probably damaging Het
Pdcd4 A G 19: 53,926,931 probably null Het
Plk2 G T 13: 110,396,036 E95* probably null Het
Pold1 G A 7: 44,538,778 R559C probably damaging Het
Ptprc T C 1: 138,083,639 D560G possibly damaging Het
Rasal3 T C 17: 32,397,504 Y290C probably damaging Het
Rcsd1 T A 1: 165,657,615 S90C probably damaging Het
Rttn T C 18: 89,110,729 L1935P probably damaging Het
Smc1b C T 15: 85,092,031 R825Q probably benign Het
Srsf11 C T 3: 158,023,344 probably benign Homo
Tmc3 T C 7: 83,598,487 Y230H probably damaging Het
Tnfrsf25 A T 4: 152,119,627 probably null Het
Vmn2r106 C T 17: 20,268,463 C558Y probably damaging Het
Zfp646 T A 7: 127,879,941 V430E probably benign Het
Other mutations in Ubl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
vaticano UTSW 1 57920510 missense
R1457:Ubl7 UTSW 9 57914611 missense probably damaging 1.00
R2102:Ubl7 UTSW 9 57920542 missense probably damaging 1.00
R2679:Ubl7 UTSW 9 57914599 missense probably damaging 0.98
R6277:Ubl7 UTSW 9 57923272 missense possibly damaging 0.80
R6317:Ubl7 UTSW 9 57911173 critical splice donor site probably null
R6768:Ubl7 UTSW 9 57912762 missense probably benign 0.00
R7156:Ubl7 UTSW 9 57929756 missense probably damaging 1.00
R7361:Ubl7 UTSW 9 57914622 missense probably damaging 1.00
R7459:Ubl7 UTSW 9 57914592 missense probably damaging 1.00
R7527:Ubl7 UTSW 9 57912884 missense unknown
R7670:Ubl7 UTSW 9 57929769 missense probably benign 0.00
R7687:Ubl7 UTSW 9 57914584 missense probably damaging 1.00
R7831:Ubl7 UTSW 9 57914635 missense possibly damaging 0.73
R8031:Ubl7 UTSW 9 57923206 missense probably damaging 1.00
Z1176:Ubl7 UTSW 9 57919345 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTCCTTTGTGGCAATTCTG -3'
(R):5'- ATTTAGAAAGCAGACCTGGCG -3'

Sequencing Primer
(F):5'- CAATTCTGTGTGGCCTAAATGCAG -3'
(R):5'- CCTGGCGAGAGACTGAACTG -3'
Posted On2018-05-24