Incidental Mutation 'R1919:Usp40'
ID 212794
Institutional Source Beutler Lab
Gene Symbol Usp40
Ensembl Gene ENSMUSG00000005501
Gene Name ubiquitin specific peptidase 40
Synonyms B230215L03Rik
MMRRC Submission 039937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1919 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 87872841-87936273 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87923564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 236 (R236C)
Ref Sequence ENSEMBL: ENSMUSP00000140107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040783] [ENSMUST00000187758] [ENSMUST00000188332]
AlphaFold Q8BWR4
Predicted Effect possibly damaging
Transcript: ENSMUST00000040783
AA Change: R236C

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: R236C

DomainStartEndE-ValueType
Pfam:UCH 40 344 1.1e-31 PFAM
Pfam:UCH_1 41 320 1.2e-20 PFAM
low complexity region 641 650 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186315
Predicted Effect possibly damaging
Transcript: ENSMUST00000187758
AA Change: R236C

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: R236C

DomainStartEndE-ValueType
Pfam:UCH 40 346 8.7e-41 PFAM
Pfam:UCH_1 41 319 2.4e-22 PFAM
low complexity region 641 650 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188332
SMART Domains Protein: ENSMUSP00000140574
Gene: ENSMUSG00000005501

DomainStartEndE-ValueType
Pfam:UCH 40 70 5.9e-6 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]
Allele List at MGI

All alleles(4) : Targeted, other(2) Gene trapped(2)

Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,031 (GRCm39) E740G probably damaging Het
4930474N05Rik G T 14: 35,817,414 (GRCm39) V105F possibly damaging Het
Actr10 A G 12: 70,989,104 (GRCm39) I74M probably benign Het
Aen T C 7: 78,555,660 (GRCm39) Y108H probably damaging Het
Afm A T 5: 90,672,779 (GRCm39) K205* probably null Het
Ankrd27 T A 7: 35,332,410 (GRCm39) S846T probably benign Het
Ano3 A G 2: 110,715,352 (GRCm39) S29P probably benign Het
Apaf1 C T 10: 90,913,476 (GRCm39) W138* probably null Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgef4 A G 1: 34,850,221 (GRCm39) Q1798R probably damaging Het
Astn1 G A 1: 158,337,541 (GRCm39) V416I probably damaging Het
Atxn2l G A 7: 126,092,340 (GRCm39) T70I probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bltp1 A G 3: 37,061,132 (GRCm39) probably null Het
Bspry T A 4: 62,413,034 (GRCm39) C256S probably damaging Het
C3 C A 17: 57,527,135 (GRCm39) W771C probably damaging Het
Camkv A G 9: 107,824,287 (GRCm39) D233G possibly damaging Het
Catsperd T A 17: 56,942,548 (GRCm39) V109E probably damaging Het
Cd101 A G 3: 100,926,233 (GRCm39) L162P probably damaging Het
Cdr2l A G 11: 115,283,603 (GRCm39) T154A probably damaging Het
Clca3a2 G C 3: 144,516,457 (GRCm39) Q380E probably benign Het
Col6a3 T C 1: 90,750,081 (GRCm39) N251S possibly damaging Het
Cttnbp2nl A G 3: 104,918,594 (GRCm39) V82A possibly damaging Het
Cux1 G A 5: 136,392,173 (GRCm39) Q194* probably null Het
Daam2 T C 17: 49,792,485 (GRCm39) E361G probably benign Het
Dcaf17 A T 2: 70,908,516 (GRCm39) probably null Het
Dnai1 T C 4: 41,570,020 (GRCm39) probably null Het
Eml5 T C 12: 98,765,098 (GRCm39) Y1617C probably damaging Het
Epb41l4b T C 4: 57,040,993 (GRCm39) E490G probably damaging Het
Epha7 T C 4: 28,963,969 (GRCm39) M988T possibly damaging Het
Fancm T C 12: 65,152,294 (GRCm39) C917R possibly damaging Het
Fnip1 C T 11: 54,371,510 (GRCm39) T177I probably damaging Het
Gm3604 G T 13: 62,517,756 (GRCm39) H201N probably benign Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gpatch8 A G 11: 102,398,968 (GRCm39) probably null Het
H2-M3 T C 17: 37,582,080 (GRCm39) Y179H possibly damaging Het
H2-Q10 C A 17: 35,781,385 (GRCm39) S62R probably damaging Het
Hipk2 G A 6: 38,795,919 (GRCm39) R117* probably null Het
Hrg A T 16: 22,773,207 (GRCm39) Q113H probably damaging Het
Kcnj16 T C 11: 110,915,779 (GRCm39) V147A possibly damaging Het
Kif1a T C 1: 92,946,753 (GRCm39) I1650V possibly damaging Het
Kmt2a C T 9: 44,731,642 (GRCm39) probably benign Het
Krt90 A T 15: 101,465,665 (GRCm39) Y319N probably damaging Het
Lipo4 T C 19: 33,476,671 (GRCm39) N359S possibly damaging Het
Lrp1b G T 2: 41,618,741 (GRCm39) T225K probably benign Het
Map1a C T 2: 121,137,493 (GRCm39) P2532S probably damaging Het
Mmrn2 A G 14: 34,119,600 (GRCm39) D193G probably benign Het
Mpped2 T A 2: 106,697,377 (GRCm39) I284N probably damaging Het
Msh6 A G 17: 88,292,553 (GRCm39) H436R probably benign Het
Mterf3 A T 13: 67,078,126 (GRCm39) S48T probably damaging Het
Muc5b T C 7: 141,399,768 (GRCm39) F414L unknown Het
Mylk4 A T 13: 32,908,836 (GRCm39) D90E probably benign Het
Nherf4 T C 9: 44,161,600 (GRCm39) D93G possibly damaging Het
Nploc4 A G 11: 120,295,055 (GRCm39) Y420H probably damaging Het
Npr2 T A 4: 43,640,578 (GRCm39) Y344N probably damaging Het
Nsun5 A G 5: 135,404,452 (GRCm39) T397A probably benign Het
Ntsr2 A T 12: 16,704,111 (GRCm39) Q204L probably damaging Het
Nwd2 T A 5: 63,963,523 (GRCm39) Y1036N probably damaging Het
Oacyl T C 18: 65,843,618 (GRCm39) V105A possibly damaging Het
Or6c2 T A 10: 129,362,918 (GRCm39) V274D probably damaging Het
Parp3 T A 9: 106,352,316 (GRCm39) Q70L possibly damaging Het
Parp4 T C 14: 56,861,474 (GRCm39) S936P probably damaging Het
Phkb A G 8: 86,648,790 (GRCm39) E202G probably benign Het
Pink1 T C 4: 138,041,331 (GRCm39) N530S probably benign Het
Pou3f2 T C 4: 22,487,119 (GRCm39) D338G probably damaging Het
Prss8 G T 7: 127,529,030 (GRCm39) L9I probably benign Het
Ptpn22 G A 3: 103,784,054 (GRCm39) probably null Het
Rad54b A C 4: 11,601,693 (GRCm39) N416T probably damaging Het
Rasef A G 4: 73,662,351 (GRCm39) S200P possibly damaging Het
Rb1 T A 14: 73,450,430 (GRCm39) K645* probably null Het
Robo2 C T 16: 73,696,042 (GRCm39) G1367D probably benign Het
Rp1 A G 1: 4,422,894 (GRCm39) V52A probably damaging Het
Samd13 T C 3: 146,368,467 (GRCm39) T23A probably benign Het
Scn7a T C 2: 66,530,317 (GRCm39) H676R probably damaging Het
Serpinb6b A G 13: 33,162,223 (GRCm39) I222V probably benign Het
Slc2a8 T C 2: 32,870,091 (GRCm39) Y150C probably damaging Het
Slc7a6os C A 8: 106,937,196 (GRCm39) R88L probably damaging Het
Slc8a2 A G 7: 15,886,845 (GRCm39) I657V probably benign Het
Slit2 C A 5: 48,348,358 (GRCm39) probably benign Het
Spire2 A G 8: 124,089,810 (GRCm39) D447G probably benign Het
Sptlc3 A G 2: 139,408,595 (GRCm39) N237D possibly damaging Het
Stk3 G A 15: 35,073,363 (GRCm39) T119I probably damaging Het
Suv39h2 G A 2: 3,465,353 (GRCm39) T334I probably damaging Het
Syt5 G T 7: 4,543,278 (GRCm39) T327N probably damaging Het
Tcof1 T C 18: 60,949,156 (GRCm39) D1253G possibly damaging Het
Timd5 A G 11: 46,419,358 (GRCm39) D58G possibly damaging Het
Tnks A T 8: 35,342,386 (GRCm39) V388D probably damaging Het
Ugt2b1 T C 5: 87,073,859 (GRCm39) T167A probably benign Het
Utrn T C 10: 12,331,224 (GRCm39) D2904G probably benign Het
Vmn1r226 T C 17: 20,907,842 (GRCm39) S25P probably damaging Het
Vmn2r23 T C 6: 123,689,969 (GRCm39) S282P possibly damaging Het
Vps45 T C 3: 95,953,752 (GRCm39) E200G probably benign Het
Wnt7b T A 15: 85,443,281 (GRCm39) I41F probably damaging Het
Zmym6 T A 4: 126,997,207 (GRCm39) N275K probably damaging Het
Other mutations in Usp40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Usp40 APN 1 87,931,960 (GRCm39) splice site probably benign
IGL00828:Usp40 APN 1 87,906,028 (GRCm39) unclassified probably benign
IGL01090:Usp40 APN 1 87,890,187 (GRCm39) missense probably benign 0.01
IGL01123:Usp40 APN 1 87,913,845 (GRCm39) missense probably benign 0.01
IGL01401:Usp40 APN 1 87,921,920 (GRCm39) missense probably damaging 1.00
IGL02506:Usp40 APN 1 87,909,738 (GRCm39) missense probably damaging 0.98
IGL02580:Usp40 APN 1 87,908,688 (GRCm39) splice site probably null
IGL02625:Usp40 APN 1 87,877,739 (GRCm39) missense probably benign 0.19
IGL02811:Usp40 APN 1 87,923,458 (GRCm39) missense probably damaging 1.00
IGL02958:Usp40 APN 1 87,906,207 (GRCm39) missense probably damaging 0.99
Brink UTSW 1 87,908,755 (GRCm39) missense probably benign 0.11
void UTSW 1 87,923,435 (GRCm39) nonsense probably null
G5030:Usp40 UTSW 1 87,921,941 (GRCm39) missense probably damaging 1.00
R0019:Usp40 UTSW 1 87,906,133 (GRCm39) missense probably benign 0.00
R0282:Usp40 UTSW 1 87,908,680 (GRCm39) splice site probably benign
R0453:Usp40 UTSW 1 87,874,320 (GRCm39) makesense probably null
R0646:Usp40 UTSW 1 87,906,244 (GRCm39) missense probably benign 0.00
R1440:Usp40 UTSW 1 87,909,808 (GRCm39) missense probably benign 0.01
R1490:Usp40 UTSW 1 87,916,687 (GRCm39) nonsense probably null
R1620:Usp40 UTSW 1 87,921,947 (GRCm39) missense probably damaging 1.00
R1881:Usp40 UTSW 1 87,921,993 (GRCm39) missense probably benign 0.08
R1903:Usp40 UTSW 1 87,909,778 (GRCm39) missense probably benign 0.15
R1912:Usp40 UTSW 1 87,874,368 (GRCm39) missense probably benign 0.00
R1976:Usp40 UTSW 1 87,906,258 (GRCm39) missense probably benign 0.00
R2111:Usp40 UTSW 1 87,877,936 (GRCm39) missense probably benign 0.17
R2112:Usp40 UTSW 1 87,877,936 (GRCm39) missense probably benign 0.17
R2163:Usp40 UTSW 1 87,923,580 (GRCm39) splice site probably benign
R2432:Usp40 UTSW 1 87,909,804 (GRCm39) missense probably benign
R2865:Usp40 UTSW 1 87,877,701 (GRCm39) nonsense probably null
R3885:Usp40 UTSW 1 87,894,991 (GRCm39) missense probably damaging 1.00
R4360:Usp40 UTSW 1 87,880,083 (GRCm39) missense probably damaging 1.00
R4370:Usp40 UTSW 1 87,925,597 (GRCm39) missense probably benign
R4496:Usp40 UTSW 1 87,923,459 (GRCm39) missense possibly damaging 0.69
R4714:Usp40 UTSW 1 87,894,901 (GRCm39) splice site probably null
R4888:Usp40 UTSW 1 87,913,923 (GRCm39) critical splice acceptor site probably null
R4944:Usp40 UTSW 1 87,880,077 (GRCm39) missense probably benign 0.10
R5269:Usp40 UTSW 1 87,923,504 (GRCm39) missense probably benign 0.01
R5629:Usp40 UTSW 1 87,908,731 (GRCm39) missense probably benign
R5696:Usp40 UTSW 1 87,923,474 (GRCm39) missense probably benign 0.27
R5756:Usp40 UTSW 1 87,879,413 (GRCm39) missense possibly damaging 0.66
R5887:Usp40 UTSW 1 87,927,592 (GRCm39) missense probably damaging 1.00
R5910:Usp40 UTSW 1 87,896,122 (GRCm39) nonsense probably null
R6014:Usp40 UTSW 1 87,907,738 (GRCm39) missense probably damaging 1.00
R6044:Usp40 UTSW 1 87,917,872 (GRCm39) missense probably benign
R6083:Usp40 UTSW 1 87,906,281 (GRCm39) missense probably benign 0.01
R6299:Usp40 UTSW 1 87,925,649 (GRCm39) missense probably damaging 0.99
R6625:Usp40 UTSW 1 87,894,935 (GRCm39) missense probably benign 0.01
R6757:Usp40 UTSW 1 87,907,759 (GRCm39) missense probably damaging 0.99
R6810:Usp40 UTSW 1 87,908,755 (GRCm39) missense probably benign 0.11
R7110:Usp40 UTSW 1 87,913,884 (GRCm39) missense probably benign 0.11
R7573:Usp40 UTSW 1 87,913,794 (GRCm39) missense probably benign 0.09
R7575:Usp40 UTSW 1 87,877,682 (GRCm39) missense probably damaging 1.00
R7634:Usp40 UTSW 1 87,890,152 (GRCm39) nonsense probably null
R7756:Usp40 UTSW 1 87,894,922 (GRCm39) missense probably damaging 0.99
R7767:Usp40 UTSW 1 87,909,900 (GRCm39) missense probably benign 0.01
R7861:Usp40 UTSW 1 87,909,852 (GRCm39) missense probably damaging 0.99
R7881:Usp40 UTSW 1 87,923,435 (GRCm39) nonsense probably null
R7896:Usp40 UTSW 1 87,906,201 (GRCm39) missense possibly damaging 0.77
R8119:Usp40 UTSW 1 87,895,400 (GRCm39) splice site probably null
R8354:Usp40 UTSW 1 87,908,694 (GRCm39) missense probably benign 0.00
R8358:Usp40 UTSW 1 87,908,770 (GRCm39) missense possibly damaging 0.71
R8425:Usp40 UTSW 1 87,887,558 (GRCm39) missense probably benign
R8446:Usp40 UTSW 1 87,906,190 (GRCm39) missense probably benign
R8454:Usp40 UTSW 1 87,908,694 (GRCm39) missense probably benign 0.00
R8744:Usp40 UTSW 1 87,911,491 (GRCm39) missense probably benign
R9002:Usp40 UTSW 1 87,935,063 (GRCm39) missense probably benign
R9033:Usp40 UTSW 1 87,923,499 (GRCm39) utr 3 prime probably benign
R9210:Usp40 UTSW 1 87,885,035 (GRCm39) missense possibly damaging 0.90
R9245:Usp40 UTSW 1 87,878,009 (GRCm39) missense probably benign
R9331:Usp40 UTSW 1 87,901,828 (GRCm39) missense probably damaging 1.00
R9378:Usp40 UTSW 1 87,885,032 (GRCm39) missense probably damaging 1.00
R9379:Usp40 UTSW 1 87,881,889 (GRCm39) missense probably benign
R9501:Usp40 UTSW 1 87,925,557 (GRCm39) missense probably benign 0.01
R9535:Usp40 UTSW 1 87,935,161 (GRCm39) start gained probably benign
R9537:Usp40 UTSW 1 87,935,117 (GRCm39) missense probably benign 0.01
RF006:Usp40 UTSW 1 87,894,917 (GRCm39) missense possibly damaging 0.47
Z1177:Usp40 UTSW 1 87,896,136 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTGAGTATTCGAATCTTGGGAGG -3'
(R):5'- TGTTGTAAGCATAACCACACAATAC -3'

Sequencing Primer
(F):5'- GTATTCGAATCTTGGGAGGAAAAG -3'
(R):5'- CATGGAGGCATTTTCCCAACTGAAG -3'
Posted On 2014-07-14