Incidental Mutation 'R1438:Uvssa'
ID 160754
Institutional Source Beutler Lab
Gene Symbol Uvssa
Ensembl Gene ENSMUSG00000037355
Gene Name UV stimulated scaffold protein A
Synonyms D330017J19Rik, 4933407H18Rik
MMRRC Submission 039493-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1438 (G1)
Quality Score 221
Status Validated
Chromosome 5
Chromosomal Location 33535893-33577098 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 33571228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087864] [ENSMUST00000202046] [ENSMUST00000202816]
AlphaFold Q9D479
Predicted Effect probably benign
Transcript: ENSMUST00000087864
SMART Domains Protein: ENSMUSP00000085170
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
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
SMART Domains Protein: ENSMUSP00000144400
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
Pfam:DUF2043 504 610 6e-43 PFAM
low complexity region 613 625 N/A INTRINSIC
low complexity region 648 662 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Ahrr A T 13: 74,372,987 (GRCm39) Y26* probably null Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cchcr1 T C 17: 35,841,457 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Dnajc3 A G 14: 119,205,518 (GRCm39) T171A probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,651,770 (GRCm39) I409V probably damaging Het
Hivep1 A G 13: 42,311,596 (GRCm39) T1279A probably benign Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kcnc1 A T 7: 46,077,691 (GRCm39) I498F possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Phlpp1 A G 1: 106,101,142 (GRCm39) D470G possibly damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Prtg C T 9: 72,818,032 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rbm19 A G 5: 120,260,961 (GRCm39) E195G probably benign Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Smo G A 6: 29,755,482 (GRCm39) V385I possibly damaging Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Top1mt A G 15: 75,546,247 (GRCm39) L78P probably damaging Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T 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
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
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
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'- AGTAGCCTGAAGACACTCTGACTCC -3'
(R):5'- GGCAAAGACCTTCTTCTCAAGGCG -3'

Sequencing Primer
(F):5'- TCCTACCTGAATGGTCAGGAATG -3'
(R):5'- TTTCTTGCTGGACCTGGATG -3'
Posted On 2014-03-14