Incidental Mutation 'BB011:Uvssa'
ID 642621
Institutional Source Beutler Lab
Gene Symbol Uvssa
Ensembl Gene ENSMUSG00000037355
Gene Name UV stimulated scaffold protein A
Synonyms D330017J19Rik, 4933407H18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # BB011
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 33535893-33577098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33568295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 561 (I561T)
Ref Sequence ENSEMBL: ENSMUSP00000085170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087864] [ENSMUST00000202046] [ENSMUST00000202816]
AlphaFold Q9D479
Predicted Effect probably damaging
Transcript: ENSMUST00000087864
AA Change: I561T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085170
Gene: ENSMUSG00000037355
AA Change: I561T

DomainStartEndE-ValueType
low complexity region 97 113 N/A INTRINSIC
coiled coil region 169 199 N/A INTRINSIC
low complexity region 282 295 N/A INTRINSIC
coiled coil region 363 388 N/A INTRINSIC
Pfam:DUF2043 504 610 6e-43 PFAM
low complexity region 613 625 N/A INTRINSIC
low complexity region 648 662 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202046
SMART Domains Protein: ENSMUSP00000144025
Gene: ENSMUSG00000037355

DomainStartEndE-ValueType
low complexity region 97 113 N/A INTRINSIC
coiled coil region 169 199 N/A INTRINSIC
low complexity region 282 295 N/A INTRINSIC
coiled coil region 363 388 N/A INTRINSIC
low complexity region 495 506 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000202816
AA Change: I561T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144400
Gene: ENSMUSG00000037355
AA Change: I561T

DomainStartEndE-ValueType
low complexity region 97 113 N/A INTRINSIC
coiled coil region 169 199 N/A INTRINSIC
low complexity region 282 295 N/A INTRINSIC
coiled coil region 363 388 N/A INTRINSIC
Pfam:DUF2043 504 610 6e-43 PFAM
low complexity region 613 625 N/A INTRINSIC
low complexity region 648 662 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,383,281 (GRCm39) K2155E possibly damaging Het
Adgre5 G A 8: 84,456,029 (GRCm39) P256S possibly damaging Het
Adipor1 T A 1: 134,353,731 (GRCm39) V172D probably damaging Het
Ahsa1 T C 12: 87,317,230 (GRCm39) probably null Het
Ankrd11 T C 8: 123,622,641 (GRCm39) I404V possibly damaging Het
Asxl3 G A 18: 22,658,602 (GRCm39) R2204Q probably damaging Het
Barhl2 A G 5: 106,605,515 (GRCm39) S65P unknown Het
Bbx A T 16: 50,044,671 (GRCm39) L630H probably damaging Het
Cars1 T C 7: 143,123,608 (GRCm39) T531A possibly damaging Het
Catsperb T A 12: 101,486,824 (GRCm39) H450Q probably benign Het
Cdt1 T C 8: 123,296,091 (GRCm39) L135P probably damaging Het
Cfap206 T A 4: 34,728,833 (GRCm39) H24L probably benign Het
Cilk1 T C 9: 78,062,746 (GRCm39) L260P probably damaging Het
Cnga4 T A 7: 105,057,028 (GRCm39) V480E probably benign Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Ctcfl G A 2: 172,955,449 (GRCm39) T271I possibly damaging Het
Dlc1 T C 8: 37,038,570 (GRCm39) R1003G probably benign Het
Dnah7b A G 1: 46,258,590 (GRCm39) D1927G probably benign Het
Dscc1 A T 15: 54,945,572 (GRCm39) D374E probably benign Het
Eci2 G A 13: 35,177,053 (GRCm39) Q69* probably null Het
Ep300 C A 15: 81,533,703 (GRCm39) P1920Q unknown Het
Epha5 A G 5: 84,232,705 (GRCm39) Y629H possibly damaging Het
Fat2 G A 11: 55,153,613 (GRCm39) T3533I probably benign Het
Fat3 T C 9: 15,910,593 (GRCm39) N1803S probably damaging Het
Fcrl2 T C 3: 87,166,840 (GRCm39) Y51C probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gcnt2 A T 13: 41,072,040 (GRCm39) K228* probably null Het
Gucy2c A T 6: 136,740,053 (GRCm39) V258E probably benign Het
Hecw1 C A 13: 14,497,113 (GRCm39) L298F probably damaging Het
Hydin T G 8: 111,145,103 (GRCm39) V818G possibly damaging Het
Hykk A G 9: 54,829,524 (GRCm39) Y131C probably damaging Het
Mpo A G 11: 87,685,666 (GRCm39) D48G probably damaging Het
Mrps10 T C 17: 47,689,208 (GRCm39) *202Q probably null Het
Mrps14 T C 1: 160,024,559 (GRCm39) V30A probably benign Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Muc2 G T 7: 141,281,631 (GRCm39) G497W probably damaging Het
Nnt A T 13: 119,523,181 (GRCm39) V237D probably damaging Het
Nox4 G T 7: 87,023,589 (GRCm39) V492L probably benign Het
Obscn C G 11: 59,003,381 (GRCm39) E1306Q probably benign Het
Or5ak23 T C 2: 85,244,563 (GRCm39) Y220C probably benign Het
Or6aa1 A G 7: 86,043,938 (GRCm39) I256T probably damaging Het
Pard3 A G 8: 128,137,231 (GRCm39) N861S probably benign Het
Pdlim4 G A 11: 53,946,048 (GRCm39) R230* probably null Het
Pinlyp C T 7: 24,241,550 (GRCm39) V159M possibly damaging Het
Plcb1 A T 2: 135,201,613 (GRCm39) T855S probably benign Het
Pot1a T A 6: 25,753,309 (GRCm39) D409V possibly damaging Het
Prom1 T C 5: 44,187,111 (GRCm39) D382G probably benign Het
Prss16 A T 13: 22,192,834 (GRCm39) N83K probably damaging Het
Ptprn2 A G 12: 116,804,884 (GRCm39) D133G probably benign Het
Rasef C T 4: 73,659,166 (GRCm39) probably null Het
Rbak A G 5: 143,160,241 (GRCm39) S271P probably damaging Het
Rbm20 A T 19: 53,666,016 (GRCm39) I60F possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rsf1 G GACGGCCGCC 7: 97,229,116 (GRCm39) probably benign Het
Serpinb3c A G 1: 107,200,904 (GRCm39) L171P probably damaging Het
Slc25a19 T C 11: 115,506,376 (GRCm39) Y211C unknown Het
Sorbs2 C T 8: 46,248,507 (GRCm39) S586L probably damaging Het
Spesp1 A T 9: 62,180,733 (GRCm39) S58R probably benign Het
Spryd3 A G 15: 102,026,762 (GRCm39) I329T probably benign Het
St8sia2 G A 7: 73,616,700 (GRCm39) L113F probably damaging Het
Star T C 8: 26,299,883 (GRCm39) I75T possibly damaging Het
Tasor2 A T 13: 3,644,331 (GRCm39) F129Y possibly damaging Het
Tdrd6 T A 17: 43,938,697 (GRCm39) I784F possibly damaging Het
Tex55 G A 16: 38,632,826 (GRCm39) Q369* probably null Het
Tsc22d4 A G 5: 137,766,273 (GRCm39) I144V unknown Het
Tspan8 T C 10: 115,669,229 (GRCm39) probably null Het
Ttll9 C T 2: 152,804,407 (GRCm39) probably benign Het
Ubr4 T G 4: 139,194,587 (GRCm39) L1160R unknown Het
Ufd1 A G 16: 18,642,035 (GRCm39) Y162C possibly damaging Het
Unc13c A T 9: 73,641,690 (GRCm39) F1268I probably benign Het
Vmn2r15 A T 5: 109,434,254 (GRCm39) S817T probably damaging Het
Ybx1 T C 4: 119,139,476 (GRCm39) E173G probably damaging Het
Zc3h6 T C 2: 128,857,400 (GRCm39) S640P possibly damaging Het
Other mutations in Uvssa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00849:Uvssa APN 5 33,566,192 (GRCm39) missense probably benign 0.00
IGL02136:Uvssa APN 5 33,549,192 (GRCm39) missense probably damaging 1.00
IGL02339:Uvssa APN 5 33,572,193 (GRCm39) missense probably damaging 1.00
IGL03096:Uvssa APN 5 33,568,268 (GRCm39) missense probably benign 0.29
IGL03130:Uvssa APN 5 33,549,189 (GRCm39) missense possibly damaging 0.57
IGL03248:Uvssa APN 5 33,549,160 (GRCm39) missense probably damaging 1.00
blinkered UTSW 5 33,547,096 (GRCm39) missense probably benign 0.04
lowbrow UTSW 5 33,571,228 (GRCm39) splice site probably benign
BB001:Uvssa UTSW 5 33,568,295 (GRCm39) missense probably damaging 1.00
PIT1430001:Uvssa UTSW 5 33,559,914 (GRCm39) missense possibly damaging 0.50
PIT4142001:Uvssa UTSW 5 33,549,428 (GRCm39) missense probably benign 0.05
R0326:Uvssa UTSW 5 33,566,191 (GRCm39) missense probably benign 0.01
R0443:Uvssa UTSW 5 33,546,168 (GRCm39) missense possibly damaging 0.68
R1438:Uvssa UTSW 5 33,571,228 (GRCm39) splice site probably benign
R1474:Uvssa UTSW 5 33,546,165 (GRCm39) missense probably benign 0.00
R1521:Uvssa UTSW 5 33,571,278 (GRCm39) missense probably damaging 0.99
R1522:Uvssa UTSW 5 33,545,152 (GRCm39) missense probably damaging 1.00
R1839:Uvssa UTSW 5 33,547,096 (GRCm39) missense probably benign 0.00
R2223:Uvssa UTSW 5 33,549,407 (GRCm39) missense probably damaging 1.00
R3404:Uvssa UTSW 5 33,547,162 (GRCm39) missense probably damaging 0.99
R3405:Uvssa UTSW 5 33,547,162 (GRCm39) missense probably damaging 0.99
R3406:Uvssa UTSW 5 33,547,162 (GRCm39) missense probably damaging 0.99
R3892:Uvssa UTSW 5 33,547,096 (GRCm39) missense probably benign 0.04
R4624:Uvssa UTSW 5 33,547,300 (GRCm39) missense possibly damaging 0.87
R4898:Uvssa UTSW 5 33,571,257 (GRCm39) nonsense probably null
R5413:Uvssa UTSW 5 33,568,252 (GRCm39) missense probably damaging 1.00
R5921:Uvssa UTSW 5 33,547,096 (GRCm39) missense probably benign 0.00
R5977:Uvssa UTSW 5 33,547,204 (GRCm39) missense probably damaging 1.00
R6198:Uvssa UTSW 5 33,566,854 (GRCm39) missense probably damaging 1.00
R6566:Uvssa UTSW 5 33,549,520 (GRCm39) missense possibly damaging 0.66
R6884:Uvssa UTSW 5 33,566,461 (GRCm39) splice site probably null
R7924:Uvssa UTSW 5 33,568,295 (GRCm39) missense probably damaging 1.00
R8022:Uvssa UTSW 5 33,566,848 (GRCm39) missense probably damaging 1.00
R8196:Uvssa UTSW 5 33,568,311 (GRCm39) missense probably benign 0.07
R8252:Uvssa UTSW 5 33,549,523 (GRCm39) missense probably benign 0.00
R9104:Uvssa UTSW 5 33,571,404 (GRCm39) missense probably damaging 0.99
R9208:Uvssa UTSW 5 33,571,419 (GRCm39) critical splice donor site probably null
R9276:Uvssa UTSW 5 33,572,180 (GRCm39) missense possibly damaging 0.89
R9320:Uvssa UTSW 5 33,547,365 (GRCm39) missense probably benign 0.20
R9658:Uvssa UTSW 5 33,568,333 (GRCm39) missense probably damaging 1.00
R9723:Uvssa UTSW 5 33,547,382 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCCGAGGATTGAGGGGTAATTG -3'
(R):5'- AGGGCTCACGAATATCCCTG -3'

Sequencing Primer
(F):5'- ATTGAGGGGTAATTGGGGTGC -3'
(R):5'- CACGAATATCCCTGGTCTAGAATGG -3'
Posted On 2020-08-01