Incidental Mutation 'R0453:Usp40'
ID 39733
Institutional Source Beutler Lab
Gene Symbol Usp40
Ensembl Gene ENSMUSG00000005501
Gene Name ubiquitin specific peptidase 40
Synonyms B230215L03Rik
MMRRC Submission 038653-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0453 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 87872841-87936273 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 87874320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 1236 (*1236Q)
Ref Sequence ENSEMBL: ENSMUSP00000140107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027517] [ENSMUST00000040783] [ENSMUST00000187758] [ENSMUST00000188332] [ENSMUST00000189448] [ENSMUST00000190061]
AlphaFold Q8BWR4
Predicted Effect probably benign
Transcript: ENSMUST00000027517
SMART Domains Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738

DomainStartEndE-ValueType
low complexity region 2 36 N/A INTRINSIC
PH 54 148 1.7e-16 SMART
C1 164 213 2.48e-15 SMART
low complexity region 221 232 N/A INTRINSIC
C1 236 286 8.56e-10 SMART
DAGKc 321 446 9.44e-62 SMART
low complexity region 691 710 N/A INTRINSIC
DAGKa 765 922 1.25e-98 SMART
low complexity region 1128 1139 N/A INTRINSIC
SAM 1148 1214 2.16e-22 SMART
Predicted Effect probably null
Transcript: ENSMUST00000040783
AA Change: *1147Q
SMART Domains Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: *1147Q

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: ENSMUST00000186670
Predicted Effect probably null
Transcript: ENSMUST00000187758
AA Change: *1236Q
SMART Domains Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: *1236Q

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
Predicted Effect probably benign
Transcript: ENSMUST00000189448
SMART Domains Protein: ENSMUSP00000139626
Gene: ENSMUSG00000070738

DomainStartEndE-ValueType
low complexity region 82 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190061
SMART Domains Protein: ENSMUSP00000139658
Gene: ENSMUSG00000070738

DomainStartEndE-ValueType
DAGKa 1 95 7.6e-26 SMART
Blast:DAGKa 119 188 1e-23 BLAST
low complexity region 301 312 N/A INTRINSIC
Meta Mutation Damage Score 0.8596 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.6%
Validation Efficiency 99% (97/98)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,765,445 (GRCm39) K843* probably null Het
Adam26b T C 8: 43,973,387 (GRCm39) I538M probably benign Het
Adamtsl1 T C 4: 86,150,852 (GRCm39) Y337H probably damaging Het
Ak7 T C 12: 105,682,307 (GRCm39) M156T probably damaging Het
Aldh3a1 A G 11: 61,106,338 (GRCm39) M238V probably benign Het
Asic4 T A 1: 75,450,155 (GRCm39) probably benign Het
AW551984 A G 9: 39,511,937 (GRCm39) S25P probably damaging Het
Bbs7 T A 3: 36,661,818 (GRCm39) Y127F possibly damaging Het
Bco1 G A 8: 117,835,516 (GRCm39) E156K possibly damaging Het
Becn1 T C 11: 101,181,275 (GRCm39) D342G probably damaging Het
Birc6 T A 17: 74,956,749 (GRCm39) I3575N probably damaging Het
Brd10 T C 19: 29,731,068 (GRCm39) Y715C probably damaging Het
Cc2d2a A T 5: 43,860,636 (GRCm39) M522L probably benign Het
Cerkl A G 2: 79,172,795 (GRCm39) F293L probably benign Het
Chil3 T G 3: 106,056,221 (GRCm39) N311T probably benign Het
Cpeb2 T A 5: 43,443,056 (GRCm39) probably benign Het
Cpxm2 A G 7: 131,730,134 (GRCm39) S162P probably damaging Het
Cracr2b A C 7: 141,044,176 (GRCm39) E136A probably damaging Het
Cyp2a4 T A 7: 26,012,258 (GRCm39) M347K probably benign Het
Dicer1 C A 12: 104,668,889 (GRCm39) R1264S probably benign Het
Dlgap1 T A 17: 71,068,341 (GRCm39) N609K probably benign Het
Dnhd1 A G 7: 105,323,651 (GRCm39) T641A probably benign Het
Egfl8 T C 17: 34,833,856 (GRCm39) Y74C probably damaging Het
Esyt1 A G 10: 128,348,078 (GRCm39) S901P probably benign Het
Fam83e A T 7: 45,373,372 (GRCm39) D246V probably damaging Het
Galnt2 T C 8: 125,065,323 (GRCm39) probably benign Het
Hdc A G 2: 126,436,871 (GRCm39) probably benign Het
Herc1 A C 9: 66,307,054 (GRCm39) Q958P probably benign Het
Iqcg T A 16: 32,870,213 (GRCm39) probably benign Het
Iqub A T 6: 24,450,829 (GRCm39) F590Y probably damaging Het
Jak2 T C 19: 29,289,238 (GRCm39) I1130T probably benign Het
Kbtbd11 G A 8: 15,077,499 (GRCm39) A33T probably benign Het
Kcnip4 A G 5: 48,667,054 (GRCm39) L37P probably damaging Het
Klk6 A G 7: 43,477,963 (GRCm39) N112D probably damaging Het
Kmt2c G A 5: 25,559,745 (GRCm39) T1011I probably damaging Het
Knl1 A T 2: 118,898,869 (GRCm39) K190M probably damaging Het
Lama3 T A 18: 12,598,535 (GRCm39) S981T possibly damaging Het
Lrrc18 T C 14: 32,730,608 (GRCm39) L49P probably damaging Het
Lrrc31 T C 3: 30,741,674 (GRCm39) E245G probably damaging Het
Lypd10 T A 7: 24,413,712 (GRCm39) S243T probably benign Het
Macf1 T C 4: 123,338,737 (GRCm39) I2456M probably benign Het
Mcm6 T A 1: 128,261,292 (GRCm39) T771S probably benign Het
Met A C 6: 17,534,197 (GRCm39) Y680S possibly damaging Het
Mixl1 T A 1: 180,524,211 (GRCm39) T123S probably damaging Het
Myh8 A T 11: 67,183,731 (GRCm39) I787F probably benign Het
Myocd A G 11: 65,087,051 (GRCm39) F292S probably damaging Het
Neb T C 2: 52,203,902 (GRCm39) probably null Het
Nfe2l1 A G 11: 96,718,194 (GRCm39) S114P probably damaging Het
Nrxn2 T C 19: 6,541,551 (GRCm39) S986P probably damaging Het
Oprl1 T C 2: 181,360,527 (GRCm39) probably null Het
Or11h6 T C 14: 50,880,461 (GRCm39) V241A possibly damaging Het
Or4a73 A T 2: 89,421,095 (GRCm39) Y121* probably null Het
Or5b101 T G 19: 13,005,295 (GRCm39) T133P probably damaging Het
Or6c8 A G 10: 128,915,640 (GRCm39) F64S probably damaging Het
Or8b53 G A 9: 38,667,425 (GRCm39) G147D probably damaging Het
Or8c9 A T 9: 38,241,467 (GRCm39) T195S probably benign Het
Panx2 T A 15: 88,952,610 (GRCm39) I359N probably damaging Het
Pik3c2b T A 1: 133,005,134 (GRCm39) V545E probably damaging Het
Piwil4 T C 9: 14,638,748 (GRCm39) N259S probably benign Het
Plcxd2 A T 16: 45,800,919 (GRCm39) F102I probably damaging Het
Pld5 A T 1: 175,917,522 (GRCm39) M75K possibly damaging Het
Pmp22 T A 11: 63,041,929 (GRCm39) probably benign Het
Polr2a A G 11: 69,631,845 (GRCm39) S1074P possibly damaging Het
Pop1 T A 15: 34,526,352 (GRCm39) V649E possibly damaging Het
Prc1 A G 7: 79,962,850 (GRCm39) N548S probably damaging Het
Prss51 T C 14: 64,334,588 (GRCm39) L202P probably damaging Het
Rhpn1 T C 15: 75,585,428 (GRCm39) S576P possibly damaging Het
Rictor A G 15: 6,738,123 (GRCm39) D20G probably benign Het
Rpl13a-ps1 A T 19: 50,018,645 (GRCm39) L177* probably null Het
Rpl23a-ps1 T G 1: 46,021,087 (GRCm39) noncoding transcript Het
Saa2 A G 7: 46,402,902 (GRCm39) D51G probably damaging Het
Sec31a A T 5: 100,551,977 (GRCm39) probably benign Het
Secisbp2 G A 13: 51,837,361 (GRCm39) E841K possibly damaging Het
Serinc1 A G 10: 57,393,306 (GRCm39) Y437H probably damaging Het
Slc39a12 A T 2: 14,440,492 (GRCm39) H481L probably benign Het
Suz12 T A 11: 79,920,859 (GRCm39) N586K probably damaging Het
Synm T C 7: 67,386,630 (GRCm39) Y344C possibly damaging Het
Tas2r104 A G 6: 131,662,304 (GRCm39) V135A probably benign Het
Tdrd9 T C 12: 112,034,673 (GRCm39) S1371P probably benign Het
Tg T A 15: 66,700,382 (GRCm39) D893E probably benign Het
Thoc5 C A 11: 4,868,217 (GRCm39) D423E possibly damaging Het
Trim11 G A 11: 58,881,361 (GRCm39) R418H probably damaging Het
Trim52 T G 14: 106,344,399 (GRCm39) V19G probably damaging Het
Tuba4a C A 1: 75,192,502 (GRCm39) V371L probably damaging Het
Ugt8a A G 3: 125,708,606 (GRCm39) V168A probably benign Het
Ulk1 C T 5: 110,938,951 (GRCm39) G496R probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r24 A G 6: 123,757,350 (GRCm39) probably null Het
Vmn2r53 A G 7: 12,316,338 (GRCm39) Y494H probably damaging Het
Vmn2r65 T A 7: 84,595,442 (GRCm39) D414V probably benign Het
Wdr26 A T 1: 181,010,444 (GRCm39) L519* probably null Het
Wnk1 A G 6: 119,940,112 (GRCm39) V173A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp318 T C 17: 46,707,634 (GRCm39) S231P probably damaging Het
Zfp398 T C 6: 47,842,782 (GRCm39) V146A probably benign Het
Zfp410 T C 12: 84,378,486 (GRCm39) M270T probably damaging Het
Zfp445 A T 9: 122,682,578 (GRCm39) H454Q possibly 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
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
Predicted Primers PCR Primer
(F):5'- AGAAGTGCCATCCCTTCGCCTATC -3'
(R):5'- TGGGAGCCATTCTAAGTACCCTCAAC -3'

Sequencing Primer
(F):5'- GCCTATCACAAAGCTGAAGACTTG -3'
(R):5'- tgccctctttctgacctcc -3'
Posted On 2013-05-23