Incidental Mutation 'R7575:Usp40'
ID 586298
Institutional Source Beutler Lab
Gene Symbol Usp40
Ensembl Gene ENSMUSG00000005501
Gene Name ubiquitin specific peptidase 40
Synonyms B230215L03Rik
MMRRC Submission 045632-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7575 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 87872841-87936273 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 87877682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Tryptophan at position 1158 (L1158W)
Ref Sequence ENSEMBL: ENSMUSP00000140107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040783] [ENSMUST00000187758] [ENSMUST00000188332] [ENSMUST00000189448] [ENSMUST00000190061]
AlphaFold Q8BWR4
Predicted Effect probably damaging
Transcript: ENSMUST00000040783
AA Change: L1069W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: L1069W

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 damaging
Transcript: ENSMUST00000187758
AA Change: L1158W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: L1158W

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C T 14: 32,384,589 (GRCm39) V459I probably benign Het
4921539E11Rik T C 4: 103,088,192 (GRCm39) D439G probably damaging Het
Adam18 T C 8: 25,115,873 (GRCm39) N607S possibly damaging Het
Adamtsl3 A T 7: 82,223,756 (GRCm39) N1179I possibly damaging Het
Adarb1 A G 10: 77,139,129 (GRCm39) F552S probably damaging Het
Ago1 T C 4: 126,347,701 (GRCm39) E394G probably benign Het
Alb G A 5: 90,613,788 (GRCm39) C224Y probably damaging Het
Alms1 T A 6: 85,599,141 (GRCm39) H1322Q possibly damaging Het
Arhgef18 T G 8: 3,501,635 (GRCm39) V643G probably damaging Het
Asah2 T C 19: 31,994,103 (GRCm39) Q414R probably benign Het
Atpsckmt C T 15: 31,606,186 (GRCm39) A48V probably damaging Het
Bbc3 G A 7: 16,046,292 (GRCm39) R76H possibly damaging Het
Bub1b T A 2: 118,471,639 (GRCm39) S1000T possibly damaging Het
Bud23 A T 5: 135,089,982 (GRCm39) Y70* probably null Het
C1d A G 11: 17,212,694 (GRCm39) E13G probably damaging Het
Camk1 T A 6: 113,315,325 (GRCm39) I158F probably damaging Het
Ccr2 A C 9: 123,905,843 (GRCm39) D41A probably benign Het
Cdh18 G T 15: 23,400,683 (GRCm39) E348* probably null Het
Col6a3 A G 1: 90,738,321 (GRCm39) L1066P possibly damaging Het
Cyp11b1 T A 15: 74,711,162 (GRCm39) D172V probably benign Het
Cyp2j8 A G 4: 96,358,785 (GRCm39) I378T possibly damaging Het
Cys1 T A 12: 24,718,647 (GRCm39) K69* probably null Het
Dip2c A G 13: 9,678,048 (GRCm39) K1165E probably damaging Het
Drd3 A T 16: 43,637,496 (GRCm39) I232F probably benign Het
Dusp7 T C 9: 106,250,876 (GRCm39) C334R probably damaging Het
Eppk1 A G 15: 75,995,442 (GRCm39) S480P not run Het
Erc1 G T 6: 119,801,721 (GRCm39) P99T possibly damaging Het
Fam170b C T 14: 32,558,155 (GRCm39) P330L unknown Het
Fasn G T 11: 120,703,513 (GRCm39) T1573K possibly damaging Het
Fras1 A T 5: 96,691,173 (GRCm39) T130S probably benign Het
Fzd4 A G 7: 89,056,918 (GRCm39) I322V possibly damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gdpd4 A T 7: 97,647,448 (GRCm39) H365L probably benign Het
Gfy A G 7: 44,827,524 (GRCm39) S191P probably benign Het
Ghr A T 15: 3,349,994 (GRCm39) S395T probably damaging Het
Git2 C T 5: 114,904,550 (GRCm39) R123H probably damaging Het
Htt A G 5: 35,062,987 (GRCm39) D2873G probably damaging Het
Idua A T 5: 108,829,565 (GRCm39) D476V probably damaging Het
Inppl1 G A 7: 101,477,689 (GRCm39) R683W probably damaging Het
Ipp T C 4: 116,389,841 (GRCm39) S466P probably benign Het
Iqgap2 A G 13: 95,798,131 (GRCm39) V1058A probably damaging Het
Jmy A T 13: 93,601,103 (GRCm39) Y434* probably null Het
Kmt2d CTGCTGCTG CTGCTGCTGATGCTGCTG 15: 98,747,492 (GRCm39) probably benign Het
Mogs T G 6: 83,092,816 (GRCm39) S85R probably damaging Het
Mroh2b A T 15: 4,964,087 (GRCm39) D863V probably damaging Het
Mtmr10 A T 7: 63,947,213 (GRCm39) I43F probably damaging Het
Mtr T C 13: 12,213,963 (GRCm39) D903G probably benign Het
Ncor1 A G 11: 62,274,082 (GRCm39) V186A probably benign Het
Notch3 C T 17: 32,373,793 (GRCm39) D472N possibly damaging Het
Or4k44 A T 2: 111,368,597 (GRCm39) F12L probably damaging Het
Or6c68 T C 10: 129,157,728 (GRCm39) F79L probably damaging Het
Or8j3c A G 2: 86,253,582 (GRCm39) F146S probably benign Het
Or9i1 T C 19: 13,839,381 (GRCm39) S75P probably damaging Het
Oxr1 T G 15: 41,686,758 (GRCm39) L547V possibly damaging Het
Pappa2 A T 1: 158,642,100 (GRCm39) C1319S probably damaging Het
Papss1 A C 3: 131,348,857 (GRCm39) K623N probably damaging Het
Parp4 T C 14: 56,875,375 (GRCm39) F1198S probably benign Het
Pcare T A 17: 72,057,850 (GRCm39) Q609L probably damaging Het
Pcnt A T 10: 76,225,086 (GRCm39) V1806D probably benign Het
Pitx2 A T 3: 129,009,375 (GRCm39) H98L probably damaging Het
Polq C A 16: 36,911,496 (GRCm39) D2410E probably benign Het
Prdm9 C T 17: 15,764,890 (GRCm39) C630Y probably damaging Het
Preb A T 5: 31,115,839 (GRCm39) D201E probably damaging Het
Rasa3 A T 8: 13,645,887 (GRCm39) I151N possibly damaging Het
Rasgrp2 T A 19: 6,454,397 (GRCm39) S147T probably damaging Het
Rev3l A G 10: 39,697,441 (GRCm39) D646G possibly damaging Het
Sdc1 A G 12: 8,840,619 (GRCm39) E128G probably damaging Het
Slamf7 A C 1: 171,466,762 (GRCm39) C148G probably damaging Het
Slc19a2 T C 1: 164,084,691 (GRCm39) S194P probably damaging Het
Spata31 C T 13: 65,070,726 (GRCm39) P958L unknown Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Stradb A G 1: 59,027,739 (GRCm39) I90V probably benign Het
Tas2r134 A G 2: 51,518,166 (GRCm39) D215G probably damaging Het
Tbc1d4 T C 14: 101,685,025 (GRCm39) K1209E probably damaging Het
Thbs1 A G 2: 117,953,409 (GRCm39) D942G probably damaging Het
Tmem107 C T 11: 68,963,633 (GRCm39) P139S probably benign Het
Tmem216 A T 19: 10,529,266 (GRCm39) M40K probably benign Het
Tpte A G 8: 22,845,498 (GRCm39) Y516C probably damaging Het
Trim54 G A 5: 31,291,431 (GRCm39) G184D possibly damaging Het
Try5 A T 6: 41,288,748 (GRCm39) L157Q probably benign Het
Ubqlnl G A 7: 103,797,697 (GRCm39) A600V probably damaging Het
Uhrf2 C A 19: 30,048,768 (GRCm39) P258Q probably damaging Het
Ush2a A T 1: 188,554,885 (GRCm39) E3554D possibly damaging Het
Vmn1r121 T A 7: 20,832,198 (GRCm39) R81* probably null Het
Vmn1r203 C A 13: 22,708,588 (GRCm39) T123K probably benign Het
Vmn2r101 T C 17: 19,831,654 (GRCm39) V550A probably benign Het
Wdr49 A T 3: 75,358,193 (GRCm39) M184K probably damaging Het
Wipi2 A G 5: 142,643,987 (GRCm39) N123S probably damaging Het
Zbtb14 T C 17: 69,694,442 (GRCm39) F47L probably damaging Het
Zc3h7b C A 15: 81,662,086 (GRCm39) S385* probably null Het
Zhx2 T A 15: 57,686,658 (GRCm39) F676I 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
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
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'- AGGAAGTCAAATCTCGTTGAGGATG -3'
(R):5'- GTAAGTTGGGCTTTCTCAGGAAAC -3'

Sequencing Primer
(F):5'- AGGATGGTTGTGAGCCACC -3'
(R):5'- GAAACCAGGCTCTCTCTGACTG -3'
Posted On 2019-10-24