Incidental Mutation 'IGL03096:Uvssa'
ID 418580
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03096
Quality Score
Status
Chromosome 5
Chromosomal Location 33535893-33577098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33568268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 552 (V552A)
Ref Sequence ENSEMBL: ENSMUSP00000144400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087864] [ENSMUST00000202046] [ENSMUST00000202816]
AlphaFold Q9D479
Predicted Effect probably benign
Transcript: ENSMUST00000087864
AA Change: V552A

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000085170
Gene: ENSMUSG00000037355
AA Change: V552A

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 noncoding transcript
Transcript: ENSMUST00000200682
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 benign
Transcript: ENSMUST00000202816
AA Change: V552A

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144400
Gene: ENSMUSG00000037355
AA Change: V552A

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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A G 11: 80,265,005 (GRCm39) F149S probably damaging Het
Ablim2 A T 5: 36,040,743 (GRCm39) K103* probably null Het
Anapc4 C T 5: 53,023,271 (GRCm39) T704I possibly damaging Het
Ccar1 A T 10: 62,600,112 (GRCm39) D606E probably benign Het
Ces1d T C 8: 93,904,670 (GRCm39) I357V probably benign Het
Col7a1 C A 9: 108,784,856 (GRCm39) P228H unknown Het
Dock4 A G 12: 40,798,000 (GRCm39) I875V probably benign Het
Fndc3a A T 14: 72,836,559 (GRCm39) S67T probably damaging Het
Fras1 A G 5: 96,912,760 (GRCm39) T3355A probably damaging Het
Gtf3a G A 5: 146,890,763 (GRCm39) R248Q probably damaging Het
Hcrtr2 T A 9: 76,161,908 (GRCm39) M161L probably benign Het
Il27ra G T 8: 84,758,161 (GRCm39) L530M probably damaging Het
Kcnj15 A G 16: 95,097,293 (GRCm39) E305G probably damaging Het
Map3k6 A T 4: 132,978,656 (GRCm39) K1086* probably null Het
Neb T C 2: 52,139,484 (GRCm39) I3044V possibly damaging Het
Ntng1 A T 3: 110,042,665 (GRCm39) S54T probably benign Het
Or6c208 T C 10: 129,224,318 (GRCm39) V272A probably damaging Het
Pah T C 10: 87,374,104 (GRCm39) probably null Het
Pex3 A T 10: 13,410,407 (GRCm39) probably benign Het
Plcg1 T C 2: 160,599,126 (GRCm39) probably benign Het
Pramel27 A G 4: 143,577,485 (GRCm39) D89G probably benign Het
Prl7c1 A T 13: 27,957,689 (GRCm39) D250E probably damaging Het
Prrc2c C T 1: 162,529,928 (GRCm39) G144S unknown Het
Rad51c A G 11: 87,279,472 (GRCm39) L304P probably damaging Het
Rnf20 A C 4: 49,638,615 (GRCm39) probably benign Het
Six3 A G 17: 85,929,365 (GRCm39) N233S possibly damaging Het
Slc2a9 T A 5: 38,508,572 (GRCm39) I476F probably damaging Het
Trps1 A C 15: 50,709,875 (GRCm39) H154Q probably benign Het
Vmn2r118 T G 17: 55,914,996 (GRCm39) N550T probably damaging Het
Vmn2r16 T A 5: 109,487,751 (GRCm39) I208K probably 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
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
BB011: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
Posted On 2016-08-02