Incidental Mutation 'R4744:Usp32'
ID 356596
Institutional Source Beutler Lab
Gene Symbol Usp32
Ensembl Gene ENSMUSG00000000804
Gene Name ubiquitin specific peptidase 32
Synonyms 2900074J03Rik, 6430526O11Rik
MMRRC Submission 042027-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4744 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 84875268-85030987 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84885219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 1276 (P1276L)
Ref Sequence ENSEMBL: ENSMUSP00000103710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108075]
AlphaFold F8VPZ3
Predicted Effect probably benign
Transcript: ENSMUST00000000821
SMART Domains Protein: ENSMUSP00000000821
Gene: ENSMUSG00000000804

DomainStartEndE-ValueType
Pfam:UCH 32 260 4.1e-51 PFAM
Pfam:UCH_1 33 228 1.7e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108075
AA Change: P1276L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103710
Gene: ENSMUSG00000000804
AA Change: P1276L

DomainStartEndE-ValueType
EFh 232 260 4.66e0 SMART
EFh 268 296 5.8e-1 SMART
Blast:EFh 318 346 5e-7 BLAST
DUSP 389 588 2.32e-16 SMART
Pfam:Ubiquitin_3 628 711 2.4e-9 PFAM
Pfam:UCH 733 1564 2.4e-83 PFAM
Pfam:UCH_1 1202 1547 2.9e-12 PFAM
Meta Mutation Damage Score 0.6744 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (82/83)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,017,617 (GRCm39) S143P possibly damaging Het
4933427D14Rik T C 11: 72,066,365 (GRCm39) K614E probably damaging Het
Aatk A G 11: 119,906,948 (GRCm39) M155T possibly damaging Het
Acvr2b T C 9: 119,260,328 (GRCm39) L333P probably damaging Het
Adam22 T C 5: 8,128,699 (GRCm39) E865G probably damaging Het
Add2 A G 6: 86,087,870 (GRCm39) S358G probably damaging Het
Agap2 T C 10: 126,926,072 (GRCm39) probably null Het
Alkbh8 G A 9: 3,344,604 (GRCm39) W49* probably null Het
AU015228 A T 2: 129,942,549 (GRCm39) noncoding transcript Het
Bank1 G T 3: 135,953,450 (GRCm39) R102S probably benign Het
Brap T A 5: 121,800,193 (GRCm39) D27E probably damaging Het
Cyb5r2 G T 7: 107,349,484 (GRCm39) H276N possibly damaging Het
Dhh A G 15: 98,792,139 (GRCm39) F290L possibly damaging Het
Dhrs7 T A 12: 72,699,025 (GRCm39) N319I possibly damaging Het
Ebpl A G 14: 61,597,682 (GRCm39) V53A probably damaging Het
Eif3j2 TGCCGCCGCCGCCGCCGCCGCCGCCGCC TGCCGCCGCCGCCGCCGCCGCCGCC 18: 43,610,782 (GRCm39) probably benign Het
Etnk1 A C 6: 143,132,319 (GRCm39) N220T probably damaging Het
F11r T A 1: 171,288,166 (GRCm39) V64D probably benign Het
Fam171a1 T C 2: 3,225,946 (GRCm39) S360P probably damaging Het
Fignl1 A G 11: 11,751,585 (GRCm39) M490T probably damaging Het
Fpr-rs7 A T 17: 20,334,265 (GRCm39) M75K probably benign Het
Fzd7 T A 1: 59,523,595 (GRCm39) F493I possibly damaging Het
Galnt14 G T 17: 73,814,828 (GRCm39) P412T probably damaging Het
Gcg T A 2: 62,308,975 (GRCm39) S60C probably damaging Het
Ggt1 A G 10: 75,421,733 (GRCm39) K527E probably benign Het
Gm16551 T A 9: 74,758,153 (GRCm39) noncoding transcript Het
Gm9972 A G 11: 42,927,517 (GRCm39) K55E unknown Het
Gpr141 T A 13: 19,935,884 (GRCm39) D297V probably benign Het
Grin2b G A 6: 135,755,697 (GRCm39) S539L probably damaging Het
Hhipl1 A T 12: 108,286,238 (GRCm39) N515I possibly damaging Het
Hmcn1 T G 1: 150,453,363 (GRCm39) E5317D probably damaging Het
Hsf5 T A 11: 87,513,617 (GRCm39) N227K probably benign Het
Igfn1 A T 1: 135,910,196 (GRCm39) D129E probably benign Het
Invs T C 4: 48,397,609 (GRCm39) F339L probably damaging Het
Jak2 T A 19: 29,239,656 (GRCm39) S17T probably benign Het
Mdga2 T A 12: 66,844,501 (GRCm39) I166F probably benign Het
Nck1 T C 9: 100,388,797 (GRCm39) I6V probably benign Het
Neb T C 2: 52,040,589 (GRCm39) D6624G probably benign Het
Nmur2 A G 11: 55,931,661 (GRCm39) Y17H probably benign Het
Nwd2 T C 5: 63,964,310 (GRCm39) L1298P probably damaging Het
Ocel1 A G 8: 71,825,397 (GRCm39) E161G probably damaging Het
Or1j16 A T 2: 36,530,991 (GRCm39) probably null Het
Pabpc2 A G 18: 39,907,881 (GRCm39) Y382C probably benign Het
Panx1 A G 9: 14,921,594 (GRCm39) probably benign Het
Pdhx A T 2: 102,872,641 (GRCm39) V147D probably benign Het
Pigz A T 16: 31,764,151 (GRCm39) H403L probably damaging Het
Pilra T C 5: 137,833,769 (GRCm39) probably null Het
Rbm47 T C 5: 66,184,036 (GRCm39) D189G probably damaging Het
Rhobtb2 A G 14: 70,031,451 (GRCm39) L558P probably damaging Het
Scarf2 G A 16: 17,621,380 (GRCm39) R322H probably damaging Het
Septin3 T C 15: 82,174,658 (GRCm39) probably null Het
Sirt2 T C 7: 28,476,438 (GRCm39) F26L probably damaging Het
Slc1a1 A T 19: 28,871,925 (GRCm39) T133S probably benign Het
Slc1a2 A G 2: 102,568,214 (GRCm39) I84V probably benign Het
Slc28a2b A T 2: 122,353,286 (GRCm39) K489* probably null Het
Slc6a9 A T 4: 117,725,092 (GRCm39) Q562L probably benign Het
Snx29 C T 16: 11,167,773 (GRCm39) Q25* probably null Het
St6galnac6 A G 2: 32,508,555 (GRCm39) I231V probably damaging Het
Stard9 A G 2: 120,526,604 (GRCm39) T954A probably benign Het
Sufu A G 19: 46,472,069 (GRCm39) M443V possibly damaging Het
Sv2b T C 7: 74,856,266 (GRCm39) D8G probably benign Het
Tapbpl G A 6: 125,205,248 (GRCm39) R233W probably damaging Het
Tex10 A G 4: 48,469,990 (GRCm39) L25S probably benign Het
Trp53bp1 A T 2: 121,041,794 (GRCm39) V1254D probably damaging Het
Ugt3a1 T A 15: 9,310,639 (GRCm39) I307N probably benign Het
Unc13c T C 9: 73,839,126 (GRCm39) D575G probably damaging Het
Usf2 A T 7: 30,654,197 (GRCm39) D166E probably damaging Het
Usp25 T A 16: 76,911,877 (GRCm39) L969M probably damaging Het
Vmn2r8 T A 5: 108,956,447 (GRCm39) E58D probably benign Het
Zfp462 G T 4: 55,011,598 (GRCm39) C40F probably damaging Het
Other mutations in Usp32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00529:Usp32 APN 11 84,885,252 (GRCm39) missense probably damaging 1.00
IGL00701:Usp32 APN 11 84,949,951 (GRCm39) splice site probably null
IGL00848:Usp32 APN 11 84,942,007 (GRCm39) splice site probably benign
IGL00934:Usp32 APN 11 84,897,902 (GRCm39) missense probably damaging 1.00
IGL01019:Usp32 APN 11 84,930,091 (GRCm39) missense probably damaging 0.97
IGL01302:Usp32 APN 11 84,879,308 (GRCm39) missense probably benign 0.05
IGL01444:Usp32 APN 11 84,949,990 (GRCm39) missense probably damaging 0.97
IGL01575:Usp32 APN 11 84,913,628 (GRCm39) missense probably damaging 1.00
IGL01981:Usp32 APN 11 84,927,350 (GRCm39) missense probably benign 0.02
IGL02118:Usp32 APN 11 84,923,003 (GRCm39) nonsense probably null
IGL02159:Usp32 APN 11 84,896,628 (GRCm39) splice site probably null
IGL02227:Usp32 APN 11 84,877,307 (GRCm39) missense probably damaging 1.00
IGL02363:Usp32 APN 11 84,935,613 (GRCm39) missense probably benign 0.01
IGL02524:Usp32 APN 11 84,900,837 (GRCm39) nonsense probably null
IGL02613:Usp32 APN 11 84,930,896 (GRCm39) missense probably damaging 0.99
IGL02720:Usp32 APN 11 84,897,817 (GRCm39) critical splice donor site probably null
IGL02738:Usp32 APN 11 84,974,632 (GRCm39) missense probably damaging 1.00
IGL02929:Usp32 APN 11 84,879,198 (GRCm39) missense probably benign 0.01
IGL03303:Usp32 APN 11 84,913,658 (GRCm39) missense probably damaging 1.00
BB010:Usp32 UTSW 11 84,897,885 (GRCm39) missense probably damaging 1.00
BB020:Usp32 UTSW 11 84,897,885 (GRCm39) missense probably damaging 1.00
PIT4812001:Usp32 UTSW 11 84,900,900 (GRCm39) missense probably damaging 1.00
R0026:Usp32 UTSW 11 84,922,900 (GRCm39) missense possibly damaging 0.48
R0295:Usp32 UTSW 11 84,944,518 (GRCm39) missense probably damaging 0.98
R1320:Usp32 UTSW 11 84,908,619 (GRCm39) missense probably damaging 0.98
R1712:Usp32 UTSW 11 84,933,406 (GRCm39) missense probably benign 0.12
R1922:Usp32 UTSW 11 84,897,830 (GRCm39) nonsense probably null
R1973:Usp32 UTSW 11 84,994,757 (GRCm39) missense probably benign 0.09
R2010:Usp32 UTSW 11 84,930,830 (GRCm39) missense probably damaging 0.98
R2082:Usp32 UTSW 11 84,921,338 (GRCm39) missense probably damaging 0.99
R2355:Usp32 UTSW 11 84,896,735 (GRCm39) missense probably benign 0.34
R3147:Usp32 UTSW 11 84,919,913 (GRCm39) missense probably damaging 1.00
R3160:Usp32 UTSW 11 84,916,362 (GRCm39) missense probably damaging 0.97
R3162:Usp32 UTSW 11 84,916,362 (GRCm39) missense probably damaging 0.97
R3716:Usp32 UTSW 11 84,933,389 (GRCm39) missense probably damaging 1.00
R3816:Usp32 UTSW 11 84,885,210 (GRCm39) critical splice donor site probably null
R3870:Usp32 UTSW 11 84,897,881 (GRCm39) nonsense probably null
R3871:Usp32 UTSW 11 84,971,982 (GRCm39) missense probably null 0.81
R4041:Usp32 UTSW 11 84,908,565 (GRCm39) missense probably benign 0.40
R4079:Usp32 UTSW 11 84,930,055 (GRCm39) missense probably damaging 0.98
R4332:Usp32 UTSW 11 84,994,804 (GRCm39) missense possibly damaging 0.79
R4396:Usp32 UTSW 11 84,944,801 (GRCm39) missense probably benign
R4580:Usp32 UTSW 11 84,949,953 (GRCm39) critical splice donor site probably null
R4620:Usp32 UTSW 11 84,949,953 (GRCm39) critical splice donor site probably null
R4909:Usp32 UTSW 11 84,946,598 (GRCm39) nonsense probably null
R5056:Usp32 UTSW 11 84,917,621 (GRCm39) missense probably benign 0.07
R5111:Usp32 UTSW 11 84,968,157 (GRCm39) missense possibly damaging 0.95
R5213:Usp32 UTSW 11 84,913,085 (GRCm39) missense probably damaging 1.00
R5308:Usp32 UTSW 11 84,908,544 (GRCm39) missense probably benign 0.12
R5381:Usp32 UTSW 11 84,949,953 (GRCm39) critical splice donor site probably benign
R5538:Usp32 UTSW 11 84,908,612 (GRCm39) missense possibly damaging 0.65
R5659:Usp32 UTSW 11 84,968,240 (GRCm39) missense possibly damaging 0.94
R6006:Usp32 UTSW 11 84,883,277 (GRCm39) critical splice donor site probably null
R6011:Usp32 UTSW 11 84,922,923 (GRCm39) missense possibly damaging 0.70
R6029:Usp32 UTSW 11 84,916,408 (GRCm39) missense probably damaging 0.99
R6074:Usp32 UTSW 11 84,885,399 (GRCm39) missense probably benign 0.00
R6331:Usp32 UTSW 11 84,877,402 (GRCm39) missense possibly damaging 0.92
R6353:Usp32 UTSW 11 84,913,107 (GRCm39) missense probably benign
R6714:Usp32 UTSW 11 84,917,696 (GRCm39) missense probably damaging 0.99
R6778:Usp32 UTSW 11 84,916,512 (GRCm39) missense probably benign 0.00
R6988:Usp32 UTSW 11 84,900,969 (GRCm39) missense probably benign 0.35
R6992:Usp32 UTSW 11 84,922,914 (GRCm39) missense probably damaging 0.99
R7182:Usp32 UTSW 11 84,930,996 (GRCm39) missense probably benign 0.34
R7186:Usp32 UTSW 11 84,942,060 (GRCm39) missense probably benign 0.45
R7198:Usp32 UTSW 11 84,913,681 (GRCm39) frame shift probably null
R7201:Usp32 UTSW 11 84,913,681 (GRCm39) frame shift probably null
R7469:Usp32 UTSW 11 84,879,379 (GRCm39) missense possibly damaging 0.94
R7502:Usp32 UTSW 11 84,913,724 (GRCm39) missense possibly damaging 0.48
R7513:Usp32 UTSW 11 84,917,938 (GRCm39) nonsense probably null
R7629:Usp32 UTSW 11 84,910,681 (GRCm39) frame shift probably null
R7703:Usp32 UTSW 11 84,968,153 (GRCm39) missense probably damaging 0.99
R7741:Usp32 UTSW 11 84,878,107 (GRCm39) missense probably damaging 0.99
R7765:Usp32 UTSW 11 84,885,234 (GRCm39) missense probably damaging 1.00
R7933:Usp32 UTSW 11 84,897,885 (GRCm39) missense probably damaging 1.00
R7973:Usp32 UTSW 11 84,913,634 (GRCm39) missense probably damaging 0.99
R7989:Usp32 UTSW 11 84,925,126 (GRCm39) missense
R7998:Usp32 UTSW 11 84,885,252 (GRCm39) missense probably damaging 1.00
R8292:Usp32 UTSW 11 84,968,227 (GRCm39) missense probably damaging 0.99
R8305:Usp32 UTSW 11 84,923,011 (GRCm39) missense possibly damaging 0.83
R8548:Usp32 UTSW 11 84,908,653 (GRCm39) missense possibly damaging 0.52
R8924:Usp32 UTSW 11 84,916,370 (GRCm39) missense probably damaging 0.98
R9002:Usp32 UTSW 11 84,944,777 (GRCm39) missense probably damaging 0.96
R9145:Usp32 UTSW 11 84,913,118 (GRCm39) missense probably damaging 1.00
R9209:Usp32 UTSW 11 84,930,838 (GRCm39) missense probably damaging 0.98
R9211:Usp32 UTSW 11 84,913,559 (GRCm39) missense probably damaging 1.00
R9296:Usp32 UTSW 11 84,908,478 (GRCm39) missense probably damaging 1.00
R9310:Usp32 UTSW 11 84,942,028 (GRCm39) missense probably benign 0.29
R9417:Usp32 UTSW 11 84,885,369 (GRCm39) missense probably damaging 1.00
R9514:Usp32 UTSW 11 84,913,560 (GRCm39) missense probably damaging 0.99
R9652:Usp32 UTSW 11 84,921,317 (GRCm39) missense probably damaging 0.97
R9723:Usp32 UTSW 11 84,935,536 (GRCm39) nonsense probably null
R9757:Usp32 UTSW 11 84,968,155 (GRCm39) nonsense probably null
X0028:Usp32 UTSW 11 84,883,432 (GRCm39) missense probably benign 0.05
Z1177:Usp32 UTSW 11 84,879,438 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTCTCACATTCTGGGATTAAAGGC -3'
(R):5'- GGTGTTCATTTTAAATGCCCTCAG -3'

Sequencing Primer
(F):5'- CACATTCTGGGATTAAAGGCATGTG -3'
(R):5'- CCCCCTCTAATAGGTTGTAGAGGAG -3'
Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.

PCR Primers

R47440059_PCR_F: 5’- CTCTCACATTCTGGGATTAAAGGC-3’

R47440059_PCR_R: 5’- GGTGTTCATTTTAAATGCCCTCAG-3’

Sequencing Primers

R47440059_SEQ_F: 5’- CACATTCTGGGATTAAAGGCATGTG-3’
 

R47440059_SEQ_R: 5’- CCCCCTCTAATAGGTTGTAGAGGAG-3’
 

PCR program

1) 94°C             2:00

2) 94°C             0:30

3) 55°C             0:30

4) 72°C             1:00

5) repeat steps (2-4) 40X

6) 72°C             10:00

7) 4°C               hold

The following sequence of 415 nucleotides is amplified (NCBI RefSeq: NC_000077, chromosome 11:84994222-84994636):

ctctcacatt ctgggattaa aggcatgtgc caccataccc aggtagaaaa gtttctaaac       

acagttatag gaaatacctt atcttcaaaa gtagccctga aatcctgcta atgactcctc      

taactcacac tagattcttc tcatagacag ggctattaac ataccaggat tggaggaagc      

ctccagaggt ccagtttctt ggttgccaaa cagtgtgttt tacatttgga gcagtagtac      

atctcatttt cccccagttc ctcctcactg gtgaaggcac ggagacagct gtccaggttg      

atgggctcag cttgtgctcg ccgactctgt tccacacttt catgctcctc tacaacctat      

tagaggggga aacaggatac acagagttgt gctgagggca tttaaaatga acacc

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = G>A).

Posted On 2015-11-11