Incidental Mutation 'R0019:Usp40'
ID 15759
Institutional Source Beutler Lab
Gene Symbol Usp40
Ensembl Gene ENSMUSG00000005501
Gene Name ubiquitin specific peptidase 40
Synonyms B230215L03Rik
MMRRC Submission 038314-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0019 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 87872841-87936273 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87906133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 701 (T701A)
Ref Sequence ENSEMBL: ENSMUSP00000140107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040783] [ENSMUST00000187758] [ENSMUST00000188332]
AlphaFold Q8BWR4
Predicted Effect probably benign
Transcript: ENSMUST00000040783
AA Change: T701A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: T701A

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 probably benign
Transcript: ENSMUST00000187758
AA Change: T701A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: T701A

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
Predicted Effect probably benign
Transcript: ENSMUST00000189409
Meta Mutation Damage Score 0.0975 question?
Coding Region Coverage
  • 1x: 83.5%
  • 3x: 78.2%
  • 10x: 64.4%
  • 20x: 48.4%
Validation Efficiency 91% (93/102)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13a T A 5: 114,924,142 (GRCm39) probably benign Het
Arhgef12 A T 9: 42,889,529 (GRCm39) W1029R probably damaging Het
Aunip T A 4: 134,250,823 (GRCm39) L256* probably null Het
Bahcc1 T A 11: 120,180,597 (GRCm39) M2607K probably damaging Het
Bltp3b A G 10: 89,611,831 (GRCm39) T5A probably damaging Het
Cacng6 G T 7: 3,480,384 (GRCm39) M152I possibly damaging Het
Cep120 A G 18: 53,842,119 (GRCm39) probably benign Het
D130043K22Rik T A 13: 25,064,795 (GRCm39) V737D probably damaging Het
Dock10 A G 1: 80,583,642 (GRCm39) S187P probably damaging Het
Eogt C T 6: 97,111,234 (GRCm39) probably benign Het
Fasn A T 11: 120,698,824 (GRCm39) probably benign Het
Frem2 C T 3: 53,431,099 (GRCm39) V2745M probably damaging Het
Fshb T C 2: 106,887,690 (GRCm39) S110G probably benign Het
Gpi1 A G 7: 33,920,324 (GRCm39) Y144H probably damaging Het
Gsap T C 5: 21,475,620 (GRCm39) probably benign Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Herc3 T C 6: 58,862,050 (GRCm39) probably benign Het
Il1r2 C T 1: 40,164,210 (GRCm39) T359M probably damaging Het
Il6st T C 13: 112,637,682 (GRCm39) C563R possibly damaging Het
Irs1 T A 1: 82,264,977 (GRCm39) K1080* probably null Het
Itpr1 T C 6: 108,331,587 (GRCm39) V182A probably damaging Het
Kalrn C T 16: 34,018,884 (GRCm39) probably benign Het
Kcnj11 G A 7: 45,748,363 (GRCm39) A320V probably benign Het
Lrig1 T A 6: 94,584,330 (GRCm39) R905* probably null Het
Lrrc43 T C 5: 123,639,378 (GRCm39) L469P probably damaging Het
Med29 A T 7: 28,090,501 (GRCm39) probably benign Het
Mroh7 T C 4: 106,578,623 (GRCm39) I18M probably benign Het
Nalcn A C 14: 123,744,901 (GRCm39) C376G probably benign Het
Ncor2 C T 5: 125,196,545 (GRCm39) probably null Het
Nek1 T A 8: 61,542,768 (GRCm39) M786K probably benign Het
Nrxn2 A G 19: 6,559,987 (GRCm39) probably benign Het
Nxpe2 T C 9: 48,231,080 (GRCm39) I430V probably benign Het
Pcolce2 A G 9: 95,577,017 (GRCm39) probably null Het
Pdcl A T 2: 37,241,932 (GRCm39) L273M probably damaging Het
Pml A T 9: 58,127,776 (GRCm39) S610R probably damaging Het
Polk C A 13: 96,641,124 (GRCm39) R144S probably damaging Het
Rlf A G 4: 121,003,769 (GRCm39) V1737A possibly damaging Het
Rubcnl T A 14: 75,285,703 (GRCm39) probably benign Het
Scn3a A T 2: 65,292,045 (GRCm39) V1567E probably damaging Het
Scyl2 A G 10: 89,495,183 (GRCm39) I296T probably benign Het
Slc15a3 A G 19: 10,833,404 (GRCm39) I474V probably damaging Het
Sstr1 T C 12: 58,259,935 (GRCm39) L186S probably damaging Het
Tmem108 A T 9: 103,366,539 (GRCm39) V484D possibly damaging Het
Trim69 A T 2: 122,004,958 (GRCm39) probably null Het
Trim80 T G 11: 115,338,768 (GRCm39) Y533D probably damaging Het
Unc13b T C 4: 43,096,990 (GRCm39) I121T possibly damaging Het
Xpr1 A G 1: 155,208,145 (GRCm39) probably benign Het
Ywhab T A 2: 163,858,090 (GRCm39) I219N probably damaging Het
Zfp219 G T 14: 52,246,485 (GRCm39) T169K 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
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
R1919:Usp40 UTSW 1 87,923,564 (GRCm39) missense possibly damaging 0.75
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
Posted On 2012-12-21