Incidental Mutation 'IGL02339:Uvssa'
ID 289005
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
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL02339
Quality Score
Status
Chromosome 5
Chromosomal Location 33378549-33419754 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33414849 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 704 (K704N)
Ref Sequence ENSEMBL: ENSMUSP00000144400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087864] [ENSMUST00000202046] [ENSMUST00000202816]
AlphaFold Q9D479
Predicted Effect probably damaging
Transcript: ENSMUST00000087864
AA Change: K704N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085170
Gene: ENSMUSG00000037355
AA Change: K704N

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 damaging
Transcript: ENSMUST00000202816
AA Change: K704N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144400
Gene: ENSMUSG00000037355
AA Change: K704N

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik A G 2: 130,739,465 S546P probably damaging Het
Aass C A 6: 23,093,966 V119F probably damaging Het
Abcg5 T C 17: 84,673,604 I186V possibly damaging Het
B4gat1 G A 19: 5,039,418 E148K probably benign Het
Ccr6 A T 17: 8,256,253 T97S probably benign Het
Cd209f A C 8: 4,104,483 probably null Het
Chst1 T A 2: 92,613,577 D131E possibly damaging Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dnah6 A G 6: 73,101,898 Y2361H probably benign Het
Dpp6 C T 5: 27,652,230 T333I probably damaging Het
Glt8d1 C A 14: 31,008,810 T91K probably damaging Het
Gm4952 G A 19: 12,626,911 R229Q probably damaging Het
Gm5117 T C 8: 31,738,226 noncoding transcript Het
Gp5 T C 16: 30,309,190 E222G probably damaging Het
Herc2 T A 7: 56,121,722 D1077E probably benign Het
Hfe T C 13: 23,704,390 E171G probably damaging Het
Hsp90b1 A G 10: 86,701,814 V209A probably damaging Het
Ktn1 A T 14: 47,683,378 probably benign Het
Med13 T C 11: 86,288,939 I1394M probably benign Het
Meioc T G 11: 102,668,448 S65R probably benign Het
Myof T C 19: 37,972,213 Y460C possibly damaging Het
Olfr1276 A T 2: 111,257,243 T43S probably benign Het
Pms1 A G 1: 53,275,165 Y74H possibly damaging Het
Ptprn2 A C 12: 116,722,104 Q61P probably damaging Het
Rab29 A G 1: 131,872,142 T152A probably benign Het
Rest A G 5: 77,275,288 H313R probably damaging Het
Slc9a5 T C 8: 105,358,459 Y531H probably damaging Het
St3gal3 T C 4: 117,958,562 T148A probably damaging Het
Stxbp5 C T 10: 9,816,297 V368I possibly damaging Het
Taf1c T C 8: 119,604,280 D33G probably damaging Het
Trim38 G A 13: 23,788,230 R178Q probably damaging Het
Vmn1r69 G A 7: 10,580,718 Q29* probably null Het
Ypel2 T C 11: 86,940,603 D119G possibly damaging Het
Other mutations in Uvssa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00849:Uvssa APN 5 33408848 missense probably benign 0.00
IGL02136:Uvssa APN 5 33391848 missense probably damaging 1.00
IGL03096:Uvssa APN 5 33410924 missense probably benign 0.29
IGL03130:Uvssa APN 5 33391845 missense possibly damaging 0.57
IGL03248:Uvssa APN 5 33391816 missense probably damaging 1.00
blinkered UTSW 5 33389752 missense probably benign 0.04
lowbrow UTSW 5 33413884 splice site probably benign
BB001:Uvssa UTSW 5 33410951 missense probably damaging 1.00
BB011:Uvssa UTSW 5 33410951 missense probably damaging 1.00
PIT1430001:Uvssa UTSW 5 33402570 missense possibly damaging 0.50
PIT4142001:Uvssa UTSW 5 33392084 missense probably benign 0.05
R0326:Uvssa UTSW 5 33408847 missense probably benign 0.01
R0443:Uvssa UTSW 5 33388824 missense possibly damaging 0.68
R1438:Uvssa UTSW 5 33413884 splice site probably benign
R1474:Uvssa UTSW 5 33388821 missense probably benign 0.00
R1521:Uvssa UTSW 5 33413934 missense probably damaging 0.99
R1522:Uvssa UTSW 5 33387808 missense probably damaging 1.00
R1839:Uvssa UTSW 5 33389752 missense probably benign 0.00
R2223:Uvssa UTSW 5 33392063 missense probably damaging 1.00
R3404:Uvssa UTSW 5 33389818 missense probably damaging 0.99
R3405:Uvssa UTSW 5 33389818 missense probably damaging 0.99
R3406:Uvssa UTSW 5 33389818 missense probably damaging 0.99
R3892:Uvssa UTSW 5 33389752 missense probably benign 0.04
R4624:Uvssa UTSW 5 33389956 missense possibly damaging 0.87
R4898:Uvssa UTSW 5 33413913 nonsense probably null
R5413:Uvssa UTSW 5 33410908 missense probably damaging 1.00
R5921:Uvssa UTSW 5 33389752 missense probably benign 0.00
R5977:Uvssa UTSW 5 33389860 missense probably damaging 1.00
R6198:Uvssa UTSW 5 33409510 missense probably damaging 1.00
R6566:Uvssa UTSW 5 33392176 missense possibly damaging 0.66
R6884:Uvssa UTSW 5 33409117 splice site probably null
R7924:Uvssa UTSW 5 33410951 missense probably damaging 1.00
R8022:Uvssa UTSW 5 33409504 missense probably damaging 1.00
R8196:Uvssa UTSW 5 33410967 missense probably benign 0.07
R8252:Uvssa UTSW 5 33392179 missense probably benign 0.00
R9104:Uvssa UTSW 5 33414060 missense probably damaging 0.99
R9208:Uvssa UTSW 5 33414075 critical splice donor site probably null
R9276:Uvssa UTSW 5 33414836 missense possibly damaging 0.89
R9320:Uvssa UTSW 5 33390021 missense probably benign 0.20
Posted On 2015-04-16