Incidental Mutation 'RF010:Usp47'
ID 603132
Institutional Source Beutler Lab
Gene Symbol Usp47
Ensembl Gene ENSMUSG00000059263
Gene Name ubiquitin specific peptidase 47
Synonyms A630020C16Rik, 4930502N04Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.839) question?
Stock # RF010 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 111622692-111710591 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111692145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 869 (V869E)
Ref Sequence ENSEMBL: ENSMUSP00000147619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106653] [ENSMUST00000210309] [ENSMUST00000215510]
AlphaFold Q8BY87
Predicted Effect probably damaging
Transcript: ENSMUST00000106653
AA Change: V849E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: V849E

DomainStartEndE-ValueType
Pfam:UCH 167 541 1.2e-50 PFAM
Pfam:UCH_1 168 507 5.1e-31 PFAM
coiled coil region 554 586 N/A INTRINSIC
low complexity region 859 880 N/A INTRINSIC
low complexity region 934 950 N/A INTRINSIC
Pfam:Ubiquitin_2 1026 1095 1.9e-3 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210309
AA Change: V869E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215510
AA Change: V869E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG 17: 35,879,473 (GRCm39) probably benign Het
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,989,553 (GRCm39) probably benign Het
Ankrd28 A G 14: 31,500,943 (GRCm39) I16T probably damaging Het
AY761185 GCACTGTGGGC G 8: 21,433,927 (GRCm39) probably null Het
Bend3 T A 10: 43,386,180 (GRCm39) F191Y possibly damaging Het
Calhm1 GTGGC GTGGCTGTGGCTATGGC 19: 47,129,712 (GRCm39) probably benign Het
Camkv CGCTGCTGC CGC 9: 107,825,059 (GRCm39) probably benign Het
Cfap251 TCTCA T 5: 123,412,224 (GRCm39) probably benign Het
Chga GCA GCATCA 12: 102,527,662 (GRCm39) probably benign Het
Cngb1 CTCTGGCTCTGGCTCTGGCTCTG C 8: 96,030,278 (GRCm39) probably null Het
Cnot3 T C 7: 3,659,068 (GRCm39) V438A probably benign Het
Cntnap5c T A 17: 58,593,790 (GRCm39) W710R probably damaging Het
Dyrk1a A G 16: 94,478,422 (GRCm39) S404G probably benign Het
Efhd2 GCCGCC GCCGCCTCCGCC 4: 141,602,075 (GRCm39) probably benign Het
Flywch1 GTGT GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT 17: 23,981,149 (GRCm39) probably null Het
Fmn2 T A 1: 174,409,581 (GRCm39) S605T unknown Het
Gab3 TCT TCTGCT X: 74,043,617 (GRCm39) probably benign Het
Gabre GCTC GCTCCGTCTC X: 71,313,666 (GRCm39) probably benign Het
Gli3 A G 13: 15,900,954 (GRCm39) Y1447C probably damaging Het
Hibch T C 1: 52,952,891 (GRCm39) V297A probably benign Het
Ifi213 C G 1: 173,409,719 (GRCm39) D462H probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Lce1m GCTGCTGCC GCTGCTGCCCCCACTGCTGCC 3: 92,925,597 (GRCm39) probably benign Het
Lpo A G 11: 87,711,928 (GRCm39) V43A probably benign Het
Map1a A AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC 2: 121,136,799 (GRCm39) probably benign Het
Mapk9 A G 11: 49,745,083 (GRCm39) probably benign Het
Mep1a G A 17: 43,797,126 (GRCm39) H314Y probably damaging Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Myh3 AC ACTTCC 11: 66,977,185 (GRCm39) probably null Het
Nusap1 ACGTTAGCAGTGAGGAGCAA ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA 2: 119,458,065 (GRCm39) probably benign Het
Or10ag56 T A 2: 87,139,184 (GRCm39) V37E possibly damaging Het
Or14a259 T C 7: 86,012,594 (GRCm39) Q317R probably benign Het
Pdcd11 AGGAGG A 19: 47,101,890 (GRCm39) probably null Het
Pfkm T A 15: 98,027,674 (GRCm39) I651N possibly damaging Het
Phldb3 CCCCCGCCCC CCCCC 7: 24,325,920 (GRCm39) probably null Het
Polr1has CACCACCAC CACCACCACCACCACCACCACTACCACCAC 17: 37,275,955 (GRCm39) probably benign Het
Prkce T C 17: 86,795,627 (GRCm39) V288A probably damaging Het
Pxmp4 A G 2: 154,434,183 (GRCm39) S93P probably damaging Het
Rfc4 T C 16: 22,946,232 (GRCm39) T17A probably benign Het
Rfx4 CTCTCTCT CTCTCTCTCTCTCTCTATCTCTCT 10: 84,694,351 (GRCm39) probably benign Het
Ryr3 G T 2: 112,606,015 (GRCm39) A2415E probably damaging Het
Sbp ACAAAGATGCTGACAACAAAGATGCTGACA ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA 17: 24,164,325 (GRCm39) probably benign Het
Sec24c T A 14: 20,738,783 (GRCm39) probably null Het
Sec63 C A 10: 42,682,620 (GRCm39) A437E probably benign Het
Six3 GCG GCGTCG 17: 85,928,783 (GRCm39) probably benign Het
Slco5a1 G A 1: 12,942,171 (GRCm39) T825I probably damaging Het
Spmap2l CAG CAGCGATCCTCCCCAGTCCCGCAAGGCGAG 5: 77,164,274 (GRCm39) probably benign Het
Stard8 GGA GGAAGA X: 98,110,123 (GRCm39) probably benign Het
Stxbp1 A G 2: 32,711,927 (GRCm39) V30A probably benign Het
Supt20 AGCAGC AGCAGCGGCAGC 3: 54,635,083 (GRCm39) probably benign Het
Syne1 T A 10: 5,196,386 (GRCm39) D3882V possibly damaging Het
T A G 17: 8,660,540 (GRCm39) T384A probably benign Het
Tbc1d12 CGGGGCGG CG 19: 38,825,384 (GRCm39) probably benign Het
Tcof1 CAG CAGAAG 18: 60,968,816 (GRCm39) probably benign Het
Tcstv5 A T 13: 120,411,582 (GRCm39) V8E probably benign Het
Tfeb GCA GCAACA 17: 48,097,019 (GRCm39) probably benign Het
Tfeb CAG CAGAAG 17: 48,097,032 (GRCm39) probably benign Het
Thumpd3 C T 6: 113,033,006 (GRCm39) A248V probably damaging Het
Tlcd4 T A 3: 121,022,533 (GRCm39) I103L probably benign Het
Tmem181a T C 17: 6,330,978 (GRCm39) probably null Het
Trim41 A T 11: 48,698,165 (GRCm39) H600Q probably damaging Het
Ttbk2 A T 2: 120,620,820 (GRCm39) C147* probably null Het
Ttll2 C T 17: 7,618,737 (GRCm39) A397T probably benign Het
Unc79 T A 12: 103,079,046 (GRCm39) L1737Q probably benign Het
Vmn1r231 T A 17: 21,110,255 (GRCm39) Q220L probably damaging Het
Vmn2r26 C T 6: 124,016,448 (GRCm39) T304I possibly damaging Het
Wrn T C 8: 33,778,793 (GRCm39) N839S probably benign Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (GRCm39) probably benign Het
Zfp384 GGCCCAGG GGCCCAGGAGCACGCCCAGG 6: 125,013,451 (GRCm39) probably benign Het
Zfyve26 C T 12: 79,302,112 (GRCm39) C1828Y probably damaging Het
Other mutations in Usp47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Usp47 APN 7 111,673,990 (GRCm39) missense probably benign 0.00
IGL00574:Usp47 APN 7 111,662,542 (GRCm39) missense probably damaging 1.00
IGL00975:Usp47 APN 7 111,692,577 (GRCm39) missense probably damaging 1.00
IGL01289:Usp47 APN 7 111,662,565 (GRCm39) missense probably damaging 1.00
IGL01419:Usp47 APN 7 111,687,118 (GRCm39) missense possibly damaging 0.94
IGL01645:Usp47 APN 7 111,654,069 (GRCm39) missense probably damaging 0.96
IGL01871:Usp47 APN 7 111,676,993 (GRCm39) splice site probably benign
IGL02066:Usp47 APN 7 111,663,604 (GRCm39) missense probably damaging 1.00
IGL02122:Usp47 APN 7 111,706,115 (GRCm39) missense probably damaging 0.97
IGL02153:Usp47 APN 7 111,703,256 (GRCm39) missense probably benign 0.00
IGL02550:Usp47 APN 7 111,703,561 (GRCm39) missense probably damaging 1.00
IGL02710:Usp47 APN 7 111,692,132 (GRCm39) missense probably benign 0.01
IGL02756:Usp47 APN 7 111,692,270 (GRCm39) missense possibly damaging 0.76
IGL03093:Usp47 APN 7 111,688,827 (GRCm39) missense probably damaging 1.00
IGL03398:Usp47 APN 7 111,673,710 (GRCm39) missense probably damaging 1.00
0152:Usp47 UTSW 7 111,655,784 (GRCm39) missense probably damaging 0.96
PIT4142001:Usp47 UTSW 7 111,703,548 (GRCm39) splice site probably benign
R0110:Usp47 UTSW 7 111,655,787 (GRCm39) missense possibly damaging 0.88
R0381:Usp47 UTSW 7 111,662,600 (GRCm39) critical splice donor site probably null
R0450:Usp47 UTSW 7 111,655,787 (GRCm39) missense possibly damaging 0.88
R0634:Usp47 UTSW 7 111,707,862 (GRCm39) missense probably damaging 1.00
R0881:Usp47 UTSW 7 111,690,643 (GRCm39) missense possibly damaging 0.51
R1178:Usp47 UTSW 7 111,709,205 (GRCm39) missense possibly damaging 0.68
R1447:Usp47 UTSW 7 111,673,775 (GRCm39) critical splice donor site probably null
R1640:Usp47 UTSW 7 111,682,334 (GRCm39) missense probably damaging 0.99
R1727:Usp47 UTSW 7 111,685,307 (GRCm39) missense probably damaging 0.96
R1866:Usp47 UTSW 7 111,701,077 (GRCm39) missense possibly damaging 0.93
R1876:Usp47 UTSW 7 111,654,127 (GRCm39) missense probably damaging 0.99
R1953:Usp47 UTSW 7 111,692,083 (GRCm39) missense probably benign 0.26
R2117:Usp47 UTSW 7 111,666,443 (GRCm39) critical splice donor site probably null
R2176:Usp47 UTSW 7 111,691,934 (GRCm39) missense probably benign 0.00
R2187:Usp47 UTSW 7 111,666,398 (GRCm39) missense probably damaging 1.00
R2504:Usp47 UTSW 7 111,703,677 (GRCm39) critical splice donor site probably null
R2902:Usp47 UTSW 7 111,692,658 (GRCm39) missense probably damaging 1.00
R2922:Usp47 UTSW 7 111,692,405 (GRCm39) missense probably damaging 1.00
R2939:Usp47 UTSW 7 111,681,743 (GRCm39) missense probably damaging 1.00
R4065:Usp47 UTSW 7 111,652,623 (GRCm39) missense probably benign 0.30
R4179:Usp47 UTSW 7 111,687,091 (GRCm39) missense probably damaging 1.00
R4235:Usp47 UTSW 7 111,709,255 (GRCm39) missense probably damaging 0.99
R4243:Usp47 UTSW 7 111,707,836 (GRCm39) missense probably damaging 1.00
R4281:Usp47 UTSW 7 111,709,200 (GRCm39) missense probably benign 0.03
R4360:Usp47 UTSW 7 111,654,139 (GRCm39) missense probably damaging 1.00
R4604:Usp47 UTSW 7 111,701,038 (GRCm39) missense probably damaging 1.00
R4857:Usp47 UTSW 7 111,681,759 (GRCm39) missense probably damaging 1.00
R5133:Usp47 UTSW 7 111,683,089 (GRCm39) missense probably damaging 1.00
R5179:Usp47 UTSW 7 111,692,639 (GRCm39) missense probably damaging 1.00
R5322:Usp47 UTSW 7 111,652,476 (GRCm39) missense probably damaging 0.99
R5445:Usp47 UTSW 7 111,673,928 (GRCm39) missense probably damaging 1.00
R5465:Usp47 UTSW 7 111,658,209 (GRCm39) missense probably damaging 1.00
R5699:Usp47 UTSW 7 111,709,204 (GRCm39) missense probably benign 0.00
R5961:Usp47 UTSW 7 111,652,523 (GRCm39) missense probably damaging 1.00
R6117:Usp47 UTSW 7 111,687,139 (GRCm39) missense probably damaging 0.98
R6271:Usp47 UTSW 7 111,686,263 (GRCm39) missense probably damaging 1.00
R7155:Usp47 UTSW 7 111,686,220 (GRCm39) missense probably damaging 0.97
R7229:Usp47 UTSW 7 111,692,084 (GRCm39) missense probably benign 0.04
R7246:Usp47 UTSW 7 111,715,116 (GRCm39)
R7285:Usp47 UTSW 7 111,692,315 (GRCm39) missense probably benign 0.02
R7938:Usp47 UTSW 7 111,687,132 (GRCm39) missense probably damaging 0.99
R8079:Usp47 UTSW 7 111,646,177 (GRCm39) missense probably damaging 1.00
R8114:Usp47 UTSW 7 111,692,394 (GRCm39) missense probably damaging 1.00
R8141:Usp47 UTSW 7 111,652,472 (GRCm39) missense possibly damaging 0.60
R8172:Usp47 UTSW 7 111,687,133 (GRCm39) nonsense probably null
R8223:Usp47 UTSW 7 111,703,583 (GRCm39) missense probably damaging 1.00
R8510:Usp47 UTSW 7 111,658,208 (GRCm39) missense probably damaging 1.00
R8701:Usp47 UTSW 7 111,692,402 (GRCm39) missense probably damaging 1.00
R9106:Usp47 UTSW 7 111,681,713 (GRCm39) missense probably damaging 1.00
R9135:Usp47 UTSW 7 111,652,431 (GRCm39) missense probably benign 0.30
R9311:Usp47 UTSW 7 111,703,257 (GRCm39) missense probably benign 0.02
R9417:Usp47 UTSW 7 111,688,801 (GRCm39) missense possibly damaging 0.86
R9487:Usp47 UTSW 7 111,677,063 (GRCm39) missense probably damaging 0.99
R9628:Usp47 UTSW 7 111,705,999 (GRCm39) missense probably benign 0.01
X0027:Usp47 UTSW 7 111,687,054 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCACTTGTGGAAACTCCTG -3'
(R):5'- CAGACTGAAAGTTTTCTGGGTC -3'

Sequencing Primer
(F):5'- ACTTGTGGAAACTCCTGGATCGAC -3'
(R):5'- CAGAAGTCTGAATGTGCTGTTCAAG -3'
Posted On 2019-12-04