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

Genbank: NM_001033291

Essential gene? Non essential (E-score: 0.000) question?
Stock # R1919 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 87945119-88008551 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87995842 bp (GRCm38)
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: 138,067,270 (GRCm38) E740G probably damaging Het
4930474N05Rik G T 14: 36,095,457 (GRCm38) V105F possibly damaging Het
4932438A13Rik A G 3: 37,006,983 (GRCm38) probably null Het
Actr10 A G 12: 70,942,330 (GRCm38) I74M probably benign Het
Aen T C 7: 78,905,912 (GRCm38) Y108H probably damaging Het
Afm A T 5: 90,524,920 (GRCm38) K205* probably null Het
Ankrd27 T A 7: 35,632,985 (GRCm38) S846T probably benign Het
Ano3 A G 2: 110,885,007 (GRCm38) S29P probably benign Het
Apaf1 C T 10: 91,077,614 (GRCm38) W138* probably null Het
Arfgef1 C T 1: 10,199,878 (GRCm38) A349T probably benign Het
Arhgef4 A G 1: 34,811,140 (GRCm38) Q1798R probably damaging Het
Astn1 G A 1: 158,509,971 (GRCm38) V416I probably damaging Het
Atxn2l G A 7: 126,493,168 (GRCm38) T70I probably damaging Het
Auh G A 13: 52,835,496 (GRCm38) P308L probably benign Het
Bspry T A 4: 62,494,797 (GRCm38) C256S probably damaging Het
C3 C A 17: 57,220,135 (GRCm38) W771C probably damaging Het
Camkv A G 9: 107,947,088 (GRCm38) D233G possibly damaging Het
Catsperd T A 17: 56,635,548 (GRCm38) V109E probably damaging Het
Cd101 A G 3: 101,018,917 (GRCm38) L162P probably damaging Het
Cdr2l A G 11: 115,392,777 (GRCm38) T154A probably damaging Het
Clca3a2 G C 3: 144,810,696 (GRCm38) Q380E probably benign Het
Col6a3 T C 1: 90,822,359 (GRCm38) N251S possibly damaging Het
Cttnbp2nl A G 3: 105,011,278 (GRCm38) V82A possibly damaging Het
Cux1 G A 5: 136,363,319 (GRCm38) Q194* probably null Het
Daam2 T C 17: 49,485,457 (GRCm38) E361G probably benign Het
Dcaf17 A T 2: 71,078,172 (GRCm38) probably null Het
Dnaic1 T C 4: 41,570,020 (GRCm38) probably null Het
Eml5 T C 12: 98,798,839 (GRCm38) Y1617C probably damaging Het
Epb41l4b T C 4: 57,040,993 (GRCm38) E490G probably damaging Het
Epha7 T C 4: 28,963,969 (GRCm38) M988T possibly damaging Het
Fancm T C 12: 65,105,520 (GRCm38) C917R possibly damaging Het
Fnip1 C T 11: 54,480,684 (GRCm38) T177I probably damaging Het
Gm12169 A G 11: 46,528,531 (GRCm38) D58G possibly damaging Het
Gm3604 G T 13: 62,369,942 (GRCm38) H201N probably benign Het
Gnpda1 T C 18: 38,333,190 (GRCm38) probably null Het
Gpatch8 A G 11: 102,508,142 (GRCm38) probably null Het
H2-M3 T C 17: 37,271,189 (GRCm38) Y179H possibly damaging Het
H2-Q10 C A 17: 35,470,488 (GRCm38) S62R probably damaging Het
Hipk2 G A 6: 38,818,984 (GRCm38) R117* probably null Het
Hrg A T 16: 22,954,457 (GRCm38) Q113H probably damaging Het
Kcnj16 T C 11: 111,024,953 (GRCm38) V147A possibly damaging Het
Kif1a T C 1: 93,019,031 (GRCm38) I1650V possibly damaging Het
Kmt2a C T 9: 44,820,345 (GRCm38) probably benign Het
Krt90 A T 15: 101,557,230 (GRCm38) Y319N probably damaging Het
Lipo4 T C 19: 33,499,271 (GRCm38) N359S possibly damaging Het
Lrp1b G T 2: 41,728,729 (GRCm38) T225K probably benign Het
Map1a C T 2: 121,307,012 (GRCm38) P2532S probably damaging Het
Mmrn2 A G 14: 34,397,643 (GRCm38) D193G probably benign Het
Mpped2 T A 2: 106,867,032 (GRCm38) I284N probably damaging Het
Msh6 A G 17: 87,985,125 (GRCm38) H436R probably benign Het
Mterf3 A T 13: 66,930,062 (GRCm38) S48T probably damaging Het
Muc5b T C 7: 141,846,031 (GRCm38) F414L unknown Het
Mylk4 A T 13: 32,724,853 (GRCm38) D90E probably benign Het
Nploc4 A G 11: 120,404,229 (GRCm38) Y420H probably damaging Het
Npr2 T A 4: 43,640,578 (GRCm38) Y344N probably damaging Het
Nsun5 A G 5: 135,375,598 (GRCm38) T397A probably benign Het
Ntsr2 A T 12: 16,654,110 (GRCm38) Q204L probably damaging Het
Nwd2 T A 5: 63,806,180 (GRCm38) Y1036N probably damaging Het
Oacyl T C 18: 65,710,547 (GRCm38) V105A possibly damaging Het
Olfr791 T A 10: 129,527,049 (GRCm38) V274D probably damaging Het
Parp3 T A 9: 106,475,117 (GRCm38) Q70L possibly damaging Het
Parp4 T C 14: 56,624,017 (GRCm38) S936P probably damaging Het
Pdzd3 T C 9: 44,250,303 (GRCm38) D93G possibly damaging Het
Phkb A G 8: 85,922,161 (GRCm38) E202G probably benign Het
Pink1 T C 4: 138,314,020 (GRCm38) N530S probably benign Het
Pou3f2 T C 4: 22,487,119 (GRCm38) D338G probably damaging Het
Prss8 G T 7: 127,929,858 (GRCm38) L9I probably benign Het
Ptpn22 G A 3: 103,876,738 (GRCm38) probably null Het
Rad54b A C 4: 11,601,693 (GRCm38) N416T probably damaging Het
Rasef A G 4: 73,744,114 (GRCm38) S200P possibly damaging Het
Rb1 T A 14: 73,212,990 (GRCm38) K645* probably null Het
Robo2 C T 16: 73,899,154 (GRCm38) G1367D probably benign Het
Rp1 A G 1: 4,352,671 (GRCm38) V52A probably damaging Het
Samd13 T C 3: 146,662,712 (GRCm38) T23A probably benign Het
Scn7a T C 2: 66,699,973 (GRCm38) H676R probably damaging Het
Serpinb6b A G 13: 32,978,240 (GRCm38) I222V probably benign Het
Slc2a8 T C 2: 32,980,079 (GRCm38) Y150C probably damaging Het
Slc7a6os C A 8: 106,210,564 (GRCm38) R88L probably damaging Het
Slc8a2 A G 7: 16,152,920 (GRCm38) I657V probably benign Het
Slit2 C A 5: 48,191,016 (GRCm38) probably benign Het
Spire2 A G 8: 123,363,071 (GRCm38) D447G probably benign Het
Sptlc3 A G 2: 139,566,675 (GRCm38) N237D possibly damaging Het
Stk3 G A 15: 35,073,217 (GRCm38) T119I probably damaging Het
Suv39h2 G A 2: 3,464,316 (GRCm38) T334I probably damaging Het
Syt5 G T 7: 4,540,279 (GRCm38) T327N probably damaging Het
Tcof1 T C 18: 60,816,084 (GRCm38) D1253G possibly damaging Het
Tnks A T 8: 34,875,232 (GRCm38) V388D probably damaging Het
Ugt2b1 T C 5: 86,926,000 (GRCm38) T167A probably benign Het
Utrn T C 10: 12,455,480 (GRCm38) D2904G probably benign Het
Vmn1r226 T C 17: 20,687,580 (GRCm38) S25P probably damaging Het
Vmn2r23 T C 6: 123,713,010 (GRCm38) S282P possibly damaging Het
Vps45 T C 3: 96,046,440 (GRCm38) E200G probably benign Het
Wnt7b T A 15: 85,559,080 (GRCm38) I41F probably damaging Het
Zmym6 T A 4: 127,103,414 (GRCm38) N275K probably damaging Het
Other mutations in Usp40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Usp40 APN 1 88,004,238 (GRCm38) splice site probably benign
IGL00828:Usp40 APN 1 87,978,306 (GRCm38) unclassified probably benign
IGL01090:Usp40 APN 1 87,962,465 (GRCm38) missense probably benign 0.01
IGL01123:Usp40 APN 1 87,986,123 (GRCm38) missense probably benign 0.01
IGL01401:Usp40 APN 1 87,994,198 (GRCm38) missense probably damaging 1.00
IGL02506:Usp40 APN 1 87,982,016 (GRCm38) missense probably damaging 0.98
IGL02580:Usp40 APN 1 87,980,966 (GRCm38) splice site probably null
IGL02625:Usp40 APN 1 87,950,017 (GRCm38) missense probably benign 0.19
IGL02811:Usp40 APN 1 87,995,736 (GRCm38) missense probably damaging 1.00
IGL02958:Usp40 APN 1 87,978,485 (GRCm38) missense probably damaging 0.99
Brink UTSW 1 87,981,033 (GRCm38) missense probably benign 0.11
void UTSW 1 87,995,713 (GRCm38) nonsense probably null
G5030:Usp40 UTSW 1 87,994,219 (GRCm38) missense probably damaging 1.00
R0019:Usp40 UTSW 1 87,978,411 (GRCm38) missense probably benign 0.00
R0282:Usp40 UTSW 1 87,980,958 (GRCm38) splice site probably benign
R0453:Usp40 UTSW 1 87,946,598 (GRCm38) makesense probably null
R0646:Usp40 UTSW 1 87,978,522 (GRCm38) missense probably benign 0.00
R1440:Usp40 UTSW 1 87,982,086 (GRCm38) missense probably benign 0.01
R1490:Usp40 UTSW 1 87,988,965 (GRCm38) nonsense probably null
R1620:Usp40 UTSW 1 87,994,225 (GRCm38) missense probably damaging 1.00
R1881:Usp40 UTSW 1 87,994,271 (GRCm38) missense probably benign 0.08
R1903:Usp40 UTSW 1 87,982,056 (GRCm38) missense probably benign 0.15
R1912:Usp40 UTSW 1 87,946,646 (GRCm38) missense probably benign 0.00
R1976:Usp40 UTSW 1 87,978,536 (GRCm38) missense probably benign 0.00
R2111:Usp40 UTSW 1 87,950,214 (GRCm38) missense probably benign 0.17
R2112:Usp40 UTSW 1 87,950,214 (GRCm38) missense probably benign 0.17
R2163:Usp40 UTSW 1 87,995,858 (GRCm38) splice site probably benign
R2432:Usp40 UTSW 1 87,982,082 (GRCm38) missense probably benign
R2865:Usp40 UTSW 1 87,949,979 (GRCm38) nonsense probably null
R3885:Usp40 UTSW 1 87,967,269 (GRCm38) missense probably damaging 1.00
R4360:Usp40 UTSW 1 87,952,361 (GRCm38) missense probably damaging 1.00
R4370:Usp40 UTSW 1 87,997,875 (GRCm38) missense probably benign
R4496:Usp40 UTSW 1 87,995,737 (GRCm38) missense possibly damaging 0.69
R4714:Usp40 UTSW 1 87,967,179 (GRCm38) splice site probably null
R4888:Usp40 UTSW 1 87,986,201 (GRCm38) critical splice acceptor site probably null
R4944:Usp40 UTSW 1 87,952,355 (GRCm38) missense probably benign 0.10
R5269:Usp40 UTSW 1 87,995,782 (GRCm38) missense probably benign 0.01
R5629:Usp40 UTSW 1 87,981,009 (GRCm38) missense probably benign
R5696:Usp40 UTSW 1 87,995,752 (GRCm38) missense probably benign 0.27
R5756:Usp40 UTSW 1 87,951,691 (GRCm38) missense possibly damaging 0.66
R5887:Usp40 UTSW 1 87,999,870 (GRCm38) missense probably damaging 1.00
R5910:Usp40 UTSW 1 87,968,400 (GRCm38) nonsense probably null
R6014:Usp40 UTSW 1 87,980,016 (GRCm38) missense probably damaging 1.00
R6044:Usp40 UTSW 1 87,990,150 (GRCm38) missense probably benign
R6083:Usp40 UTSW 1 87,978,559 (GRCm38) missense probably benign 0.01
R6299:Usp40 UTSW 1 87,997,927 (GRCm38) missense probably damaging 0.99
R6625:Usp40 UTSW 1 87,967,213 (GRCm38) missense probably benign 0.01
R6757:Usp40 UTSW 1 87,980,037 (GRCm38) missense probably damaging 0.99
R6810:Usp40 UTSW 1 87,981,033 (GRCm38) missense probably benign 0.11
R7110:Usp40 UTSW 1 87,986,162 (GRCm38) missense probably benign 0.11
R7573:Usp40 UTSW 1 87,986,072 (GRCm38) missense probably benign 0.09
R7575:Usp40 UTSW 1 87,949,960 (GRCm38) missense probably damaging 1.00
R7634:Usp40 UTSW 1 87,962,430 (GRCm38) nonsense probably null
R7756:Usp40 UTSW 1 87,967,200 (GRCm38) missense probably damaging 0.99
R7767:Usp40 UTSW 1 87,982,178 (GRCm38) missense probably benign 0.01
R7861:Usp40 UTSW 1 87,982,130 (GRCm38) missense probably damaging 0.99
R7881:Usp40 UTSW 1 87,995,713 (GRCm38) nonsense probably null
R7896:Usp40 UTSW 1 87,978,479 (GRCm38) missense possibly damaging 0.77
R8119:Usp40 UTSW 1 87,967,678 (GRCm38) splice site probably null
R8354:Usp40 UTSW 1 87,980,972 (GRCm38) missense probably benign 0.00
R8358:Usp40 UTSW 1 87,981,048 (GRCm38) missense possibly damaging 0.71
R8425:Usp40 UTSW 1 87,959,836 (GRCm38) missense probably benign
R8446:Usp40 UTSW 1 87,978,468 (GRCm38) missense probably benign
R8454:Usp40 UTSW 1 87,980,972 (GRCm38) missense probably benign 0.00
R8744:Usp40 UTSW 1 87,983,769 (GRCm38) missense probably benign
R9002:Usp40 UTSW 1 88,007,341 (GRCm38) missense probably benign
R9033:Usp40 UTSW 1 87,995,777 (GRCm38) utr 3 prime probably benign
R9210:Usp40 UTSW 1 87,957,313 (GRCm38) missense possibly damaging 0.90
R9245:Usp40 UTSW 1 87,950,287 (GRCm38) missense probably benign
R9331:Usp40 UTSW 1 87,974,106 (GRCm38) missense probably damaging 1.00
R9378:Usp40 UTSW 1 87,957,310 (GRCm38) missense probably damaging 1.00
R9379:Usp40 UTSW 1 87,954,167 (GRCm38) missense probably benign
R9501:Usp40 UTSW 1 87,997,835 (GRCm38) missense probably benign 0.01
R9535:Usp40 UTSW 1 88,007,439 (GRCm38) start gained probably benign
R9537:Usp40 UTSW 1 88,007,395 (GRCm38) missense probably benign 0.01
RF006:Usp40 UTSW 1 87,967,195 (GRCm38) missense possibly damaging 0.47
Z1177:Usp40 UTSW 1 87,968,414 (GRCm38) 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