Incidental Mutation 'R8883:Usp45'
ID 677094
Institutional Source Beutler Lab
Gene Symbol Usp45
Ensembl Gene ENSMUSG00000040455
Gene Name ubiquitin specific petidase 45
Synonyms 4930550B20Rik, Gcap7, 3110003C05Rik
MMRRC Submission 068689-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8883 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 21767161-21837872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21825006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 586 (G586D)
Ref Sequence ENSEMBL: ENSMUSP00000048324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040429] [ENSMUST00000065111] [ENSMUST00000108232]
AlphaFold Q8K387
Predicted Effect probably damaging
Transcript: ENSMUST00000040429
AA Change: G586D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048324
Gene: ENSMUSG00000040455
AA Change: G586D

DomainStartEndE-ValueType
Pfam:zf-UBP 60 139 2e-19 PFAM
Pfam:UCH 190 761 2.8e-50 PFAM
Pfam:UCH_1 533 743 3.9e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000065111
AA Change: G634D

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067109
Gene: ENSMUSG00000040455
AA Change: G634D

DomainStartEndE-ValueType
Pfam:zf-UBP 60 139 4.1e-19 PFAM
Pfam:UCH 190 809 2.1e-45 PFAM
Pfam:UCH_1 581 790 9.6e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108232
AA Change: G634D

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103867
Gene: ENSMUSG00000040455
AA Change: G634D

DomainStartEndE-ValueType
Pfam:zf-UBP 60 139 2.2e-19 PFAM
Pfam:UCH 190 809 4.6e-50 PFAM
Pfam:UCH_1 582 791 4.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137293
SMART Domains Protein: ENSMUSP00000125982
Gene: ENSMUSG00000040455

DomainStartEndE-ValueType
Pfam:zf-UBP 27 106 1.6e-20 PFAM
Pfam:UCH 157 205 3.3e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,283,168 (GRCm39) S3197P probably benign Het
Arih2 A G 9: 108,486,992 (GRCm39) S315P probably damaging Het
Atp1b3 A T 9: 96,246,122 (GRCm39) L29Q probably damaging Het
Bsn G A 9: 107,990,227 (GRCm39) P1842S probably damaging Het
Ccnb1ip1 G C 14: 51,027,359 (GRCm39) P248A probably benign Het
Cep76 T C 18: 67,766,540 (GRCm39) Q262R probably benign Het
Cox10 T C 11: 63,884,775 (GRCm39) E210G probably damaging Het
Dcaf1 T G 9: 106,724,839 (GRCm39) probably benign Het
Dgki A T 6: 36,993,608 (GRCm39) D584E probably damaging Het
Evpl T C 11: 116,121,243 (GRCm39) E428G probably damaging Het
Fbh1 A G 2: 11,753,922 (GRCm39) F807L probably benign Het
Fbxo11 A G 17: 88,305,044 (GRCm39) V533A Het
Fermt3 G T 19: 6,980,600 (GRCm39) D322E probably damaging Het
Fsip2 G T 2: 82,809,524 (GRCm39) V1948L possibly damaging Het
Gata4 T C 14: 63,442,204 (GRCm39) D206G probably benign Het
Gjd3 A G 11: 102,691,769 (GRCm39) V78A probably damaging Het
Gnl1 A G 17: 36,293,490 (GRCm39) N225S probably damaging Het
Hmces G A 6: 87,910,396 (GRCm39) A269T probably benign Het
Kalrn A T 16: 33,814,025 (GRCm39) N2434K probably damaging Het
Kif1b A T 4: 149,361,342 (GRCm39) S49T probably benign Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lap3 C A 5: 45,669,272 (GRCm39) H474N probably benign Het
Ldlrad1 A G 4: 107,073,412 (GRCm39) Y149C probably damaging Het
Lsm8 T C 6: 18,851,747 (GRCm39) V62A probably benign Het
Map3k14 T G 11: 103,130,278 (GRCm39) Q213P probably benign Het
Mboat2 T G 12: 25,009,033 (GRCm39) H478Q Het
Mepce C A 5: 137,784,779 (GRCm39) probably benign Het
Mical1 G A 10: 41,355,636 (GRCm39) R233H Het
Muc2 A G 7: 141,287,469 (GRCm39) H216R probably damaging Het
Ntmt1 G A 2: 30,712,466 (GRCm39) A170T probably benign Het
Or2ag15 A G 7: 106,340,274 (GRCm39) I289T possibly damaging Het
Or2d3 A C 7: 106,490,536 (GRCm39) M260R probably damaging Het
Or5w17 T A 2: 87,583,838 (GRCm39) L166F probably damaging Het
Or8g19 A G 9: 39,056,083 (GRCm39) H229R probably benign Het
Pebp4 G T 14: 70,085,098 (GRCm39) C52F probably damaging Het
Pigm T A 1: 172,205,085 (GRCm39) Y274N probably damaging Het
Pik3r6 T C 11: 68,424,468 (GRCm39) S358P probably benign Het
Plekhd1 T C 12: 80,767,368 (GRCm39) I252T probably benign Het
Prss3b G T 6: 41,009,305 (GRCm39) Y176* probably null Het
Racgap1 A G 15: 99,526,540 (GRCm39) V341A probably benign Het
Rprd1a T C 18: 24,640,260 (GRCm39) D172G possibly damaging Het
Spg11 T C 2: 121,943,561 (GRCm39) D197G probably damaging Het
Spmap2 T C 10: 79,412,474 (GRCm39) D339G probably benign Het
Spta1 A T 1: 174,021,145 (GRCm39) K574N possibly damaging Het
Srrd A T 5: 112,487,790 (GRCm39) F130L possibly damaging Het
Stim1 A T 7: 102,080,257 (GRCm39) H547L unknown Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Tap1 T C 17: 34,406,867 (GRCm39) V5A unknown Het
Tent5c C A 3: 100,379,707 (GRCm39) A350S probably benign Het
Vps13c G T 9: 67,855,479 (GRCm39) A2515S probably benign Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfyve28 T C 5: 34,375,211 (GRCm39) probably null Het
Other mutations in Usp45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02040:Usp45 APN 4 21,830,433 (GRCm39) missense probably benign 0.38
IGL02053:Usp45 APN 4 21,824,553 (GRCm39) missense probably benign 0.43
IGL02155:Usp45 APN 4 21,798,743 (GRCm39) splice site probably null
R0285:Usp45 UTSW 4 21,798,603 (GRCm39) critical splice acceptor site probably null
R1260:Usp45 UTSW 4 21,826,204 (GRCm39) missense probably damaging 1.00
R1495:Usp45 UTSW 4 21,797,385 (GRCm39) missense possibly damaging 0.82
R1888:Usp45 UTSW 4 21,784,811 (GRCm39) intron probably benign
R2444:Usp45 UTSW 4 21,817,528 (GRCm39) missense probably benign 0.00
R2906:Usp45 UTSW 4 21,834,338 (GRCm39) nonsense probably null
R4058:Usp45 UTSW 4 21,810,746 (GRCm39) missense probably damaging 1.00
R4357:Usp45 UTSW 4 21,834,350 (GRCm39) nonsense probably null
R4386:Usp45 UTSW 4 21,830,505 (GRCm39) critical splice donor site probably null
R4648:Usp45 UTSW 4 21,825,044 (GRCm39) missense probably benign 0.12
R4766:Usp45 UTSW 4 21,797,307 (GRCm39) missense probably damaging 0.98
R4787:Usp45 UTSW 4 21,796,860 (GRCm39) missense probably benign
R4973:Usp45 UTSW 4 21,815,372 (GRCm39) missense probably damaging 1.00
R5152:Usp45 UTSW 4 21,824,815 (GRCm39) missense probably benign 0.41
R5900:Usp45 UTSW 4 21,830,451 (GRCm39) missense probably damaging 1.00
R5960:Usp45 UTSW 4 21,810,797 (GRCm39) missense probably damaging 1.00
R5961:Usp45 UTSW 4 21,810,797 (GRCm39) missense probably damaging 1.00
R6149:Usp45 UTSW 4 21,810,797 (GRCm39) missense probably damaging 1.00
R6150:Usp45 UTSW 4 21,810,797 (GRCm39) missense probably damaging 1.00
R6151:Usp45 UTSW 4 21,810,797 (GRCm39) missense probably damaging 1.00
R6997:Usp45 UTSW 4 21,781,844 (GRCm39) missense probably damaging 1.00
R7504:Usp45 UTSW 4 21,816,892 (GRCm39) missense possibly damaging 0.65
R7565:Usp45 UTSW 4 21,784,790 (GRCm39) missense probably benign 0.00
R7750:Usp45 UTSW 4 21,780,430 (GRCm39) missense probably damaging 1.00
R7992:Usp45 UTSW 4 21,824,543 (GRCm39) missense probably benign 0.02
R8043:Usp45 UTSW 4 21,824,543 (GRCm39) missense probably benign 0.02
R8233:Usp45 UTSW 4 21,781,736 (GRCm39) missense probably benign 0.33
R8237:Usp45 UTSW 4 21,834,274 (GRCm39) missense probably damaging 0.98
R8868:Usp45 UTSW 4 21,815,399 (GRCm39) critical splice donor site probably null
R9036:Usp45 UTSW 4 21,832,201 (GRCm39) missense probably damaging 1.00
R9307:Usp45 UTSW 4 21,824,998 (GRCm39) missense probably damaging 1.00
R9338:Usp45 UTSW 4 21,784,755 (GRCm39) missense probably damaging 1.00
Z1176:Usp45 UTSW 4 21,817,613 (GRCm39) missense possibly damaging 0.65
Z1176:Usp45 UTSW 4 21,796,847 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- CTGGCAATAGAGATTTCCACAGG -3'
(R):5'- CCCAAGTAGAACAAGGCCTG -3'

Sequencing Primer
(F):5'- GGGAAAAACAGCCACTAAATGTC -3'
(R):5'- CTGTAAAGCCCGAGTTAC -3'
Posted On 2021-08-02