Incidental Mutation 'R6939:Usp42'
ID 540421
Institutional Source Beutler Lab
Gene Symbol Usp42
Ensembl Gene ENSMUSG00000051306
Gene Name ubiquitin specific peptidase 42
Synonyms 3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e
MMRRC Submission 045053-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6939 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 143696080-143718035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143713724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 17 (N17D)
Ref Sequence ENSEMBL: ENSMUSP00000053955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053287]
AlphaFold B2RQC2
Predicted Effect probably damaging
Transcript: ENSMUST00000053287
AA Change: N17D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: N17D

DomainStartEndE-ValueType
low complexity region 65 77 N/A INTRINSIC
Pfam:UCH 109 408 1.4e-46 PFAM
Pfam:UCH_1 110 391 1.4e-18 PFAM
low complexity region 470 490 N/A INTRINSIC
low complexity region 567 579 N/A INTRINSIC
low complexity region 604 613 N/A INTRINSIC
low complexity region 634 645 N/A INTRINSIC
low complexity region 954 962 N/A INTRINSIC
low complexity region 1016 1031 N/A INTRINSIC
low complexity region 1201 1219 N/A INTRINSIC
low complexity region 1239 1255 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 99% (66/67)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit fecundity and behavioral abnormalities, hyperactivity, increased T cell number, abnormal lens morphology, and cataracts. Males display oligozoospermia and testis degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G A 15: 60,792,244 (GRCm39) P128L probably damaging Het
Acsm3 T C 7: 119,377,678 (GRCm39) V401A probably damaging Het
Arhgef11 C A 3: 87,594,227 (GRCm39) N93K probably damaging Het
C1ra G A 6: 124,489,760 (GRCm39) probably null Het
Camk2a A G 18: 61,091,226 (GRCm39) E236G probably damaging Het
Cav2 C A 6: 17,281,410 (GRCm39) D17E possibly damaging Het
Ccdc149 T C 5: 52,533,607 (GRCm39) S520G probably benign Het
Chd4 C A 6: 125,083,501 (GRCm39) H674Q probably damaging Het
Clrn2 A T 5: 45,611,096 (GRCm39) probably benign Het
Cntnap1 A C 11: 101,077,337 (GRCm39) I1000L probably damaging Het
Cyp2c67 T C 19: 39,631,778 (GRCm39) T140A possibly damaging Het
D7Ertd443e T C 7: 133,966,208 (GRCm39) probably null Het
Dcdc2c G T 12: 28,591,496 (GRCm39) Q131K probably benign Het
Dmpk T A 7: 18,822,149 (GRCm39) V369E probably damaging Het
Dnah11 A T 12: 118,070,297 (GRCm39) W1503R probably damaging Het
Dnai7 A G 6: 145,120,945 (GRCm39) F625L possibly damaging Het
Dok2 T C 14: 71,013,045 (GRCm39) V71A probably benign Het
Dqx1 A T 6: 83,036,446 (GRCm39) Q150L probably damaging Het
Extl3 A G 14: 65,304,189 (GRCm39) I740T possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat2 C T 11: 55,143,300 (GRCm39) W4183* probably null Het
Fkrp C T 7: 16,545,751 (GRCm39) R37Q probably benign Het
Frem3 A G 8: 81,341,774 (GRCm39) K1356E probably benign Het
Fus A T 7: 127,571,741 (GRCm39) probably benign Het
Gabarapl2 C A 8: 112,669,201 (GRCm39) S53* probably null Het
Gjd3 A C 11: 102,691,733 (GRCm39) M90R probably damaging Het
Gm30083 C T 14: 33,725,557 (GRCm39) probably null Het
Gm7356 T A 17: 14,221,387 (GRCm39) Y214F probably benign Het
Hexd A T 11: 121,113,164 (GRCm39) D533V probably benign Het
Ift172 G A 5: 31,414,930 (GRCm39) A1364V probably damaging Het
Ighmbp2 A T 19: 3,326,907 (GRCm39) F186Y probably damaging Het
Inpp5e C A 2: 26,297,774 (GRCm39) probably null Het
Iqcb1 A G 16: 36,660,274 (GRCm39) T146A possibly damaging Het
Kcnmb2 A G 3: 32,252,465 (GRCm39) Y222C probably damaging Het
Kdm6b A G 11: 69,297,588 (GRCm39) W284R probably damaging Het
Khdc4 T A 3: 88,593,824 (GRCm39) M71K probably damaging Het
Ksr2 T A 5: 117,903,626 (GRCm39) *952R probably null Het
Ldlrap1 C A 4: 134,495,285 (GRCm39) probably benign Het
Mpdu1 G A 11: 69,548,881 (GRCm39) probably benign Het
Mrgprh A T 17: 13,095,822 (GRCm39) T21S probably benign Het
Muc16 T A 9: 18,549,833 (GRCm39) T5487S probably benign Het
Mydgf A G 17: 56,490,737 (GRCm39) probably null Het
Napa T C 7: 15,849,182 (GRCm39) C241R possibly damaging Het
Or10ab4 C A 7: 107,654,312 (GRCm39) A41E possibly damaging Het
Or10n7-ps1 T C 9: 39,598,187 (GRCm39) T18A possibly damaging Het
Or5k17 A T 16: 58,746,648 (GRCm39) Y95* probably null Het
Pla2g4f A T 2: 120,137,782 (GRCm39) L326Q probably damaging Het
Pramel16 T C 4: 143,675,366 (GRCm39) T487A probably benign Het
Psme4 T A 11: 30,787,291 (GRCm39) Y1029N probably damaging Het
Ptprj T C 2: 90,289,858 (GRCm39) T707A possibly damaging Het
Raet1e T A 10: 22,050,256 (GRCm39) M13K possibly damaging Het
Rftn2 T C 1: 55,233,508 (GRCm39) probably null Het
Rmi1 A G 13: 58,557,169 (GRCm39) I473V probably benign Het
Rps6ka4 A G 19: 6,815,437 (GRCm39) F186L probably damaging Het
Ryr1 T A 7: 28,751,751 (GRCm39) M3672L possibly damaging Het
Smarca5 A T 8: 81,431,949 (GRCm39) C890S possibly damaging Het
Spata31d1e T A 13: 59,889,872 (GRCm39) K231N possibly damaging Het
Tdrd12 C T 7: 35,185,024 (GRCm39) probably null Het
Tecta T C 9: 42,259,293 (GRCm39) N1530S probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmem94 A G 11: 115,676,656 (GRCm39) S54G possibly damaging Het
Tnk2 T C 16: 32,482,696 (GRCm39) V41A probably damaging Het
Trpm1 A G 7: 63,918,045 (GRCm39) T462A probably benign Het
Tsg101 T C 7: 46,556,847 (GRCm39) T61A probably benign Het
Zfp607a T A 7: 27,578,473 (GRCm39) C514* probably null Het
Zfp866 G T 8: 70,218,871 (GRCm39) Q250K probably damaging Het
Other mutations in Usp42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Usp42 APN 5 143,702,897 (GRCm39) missense probably benign 0.00
IGL00902:Usp42 APN 5 143,705,629 (GRCm39) splice site probably benign
IGL01326:Usp42 APN 5 143,706,970 (GRCm39) missense possibly damaging 0.54
IGL01985:Usp42 APN 5 143,700,940 (GRCm39) missense probably damaging 1.00
IGL02629:Usp42 APN 5 143,708,909 (GRCm39) missense possibly damaging 0.94
IGL02683:Usp42 APN 5 143,701,101 (GRCm39) missense possibly damaging 0.55
IGL02700:Usp42 APN 5 143,702,883 (GRCm39) missense probably benign 0.01
IGL02965:Usp42 APN 5 143,713,769 (GRCm39) missense probably damaging 1.00
PIT4468001:Usp42 UTSW 5 143,700,399 (GRCm39) missense probably damaging 1.00
R0043:Usp42 UTSW 5 143,700,465 (GRCm39) missense probably benign 0.09
R0043:Usp42 UTSW 5 143,700,465 (GRCm39) missense probably benign 0.09
R0420:Usp42 UTSW 5 143,700,616 (GRCm39) missense probably damaging 0.99
R1066:Usp42 UTSW 5 143,703,796 (GRCm39) missense probably damaging 1.00
R1345:Usp42 UTSW 5 143,703,088 (GRCm39) missense probably damaging 1.00
R1628:Usp42 UTSW 5 143,703,122 (GRCm39) missense probably damaging 1.00
R1728:Usp42 UTSW 5 143,700,381 (GRCm39) missense probably damaging 1.00
R1729:Usp42 UTSW 5 143,700,381 (GRCm39) missense probably damaging 1.00
R1767:Usp42 UTSW 5 143,700,621 (GRCm39) missense possibly damaging 0.69
R1772:Usp42 UTSW 5 143,702,857 (GRCm39) missense probably damaging 1.00
R1784:Usp42 UTSW 5 143,700,381 (GRCm39) missense probably damaging 1.00
R1916:Usp42 UTSW 5 143,700,811 (GRCm39) missense probably damaging 1.00
R2425:Usp42 UTSW 5 143,701,594 (GRCm39) missense probably benign 0.09
R2867:Usp42 UTSW 5 143,701,219 (GRCm39) missense possibly damaging 0.52
R2867:Usp42 UTSW 5 143,701,219 (GRCm39) missense possibly damaging 0.52
R2886:Usp42 UTSW 5 143,707,384 (GRCm39) splice site probably benign
R3195:Usp42 UTSW 5 143,702,954 (GRCm39) missense probably benign 0.02
R3737:Usp42 UTSW 5 143,701,194 (GRCm39) missense probably benign 0.00
R3738:Usp42 UTSW 5 143,701,194 (GRCm39) missense probably benign 0.00
R4034:Usp42 UTSW 5 143,701,194 (GRCm39) missense probably benign 0.00
R4795:Usp42 UTSW 5 143,709,692 (GRCm39) missense probably damaging 1.00
R4940:Usp42 UTSW 5 143,705,517 (GRCm39) missense probably damaging 1.00
R4967:Usp42 UTSW 5 143,701,119 (GRCm39) missense possibly damaging 0.71
R5282:Usp42 UTSW 5 143,707,401 (GRCm39) missense probably damaging 1.00
R5773:Usp42 UTSW 5 143,699,467 (GRCm39) missense probably benign 0.03
R5778:Usp42 UTSW 5 143,705,331 (GRCm39) missense probably damaging 1.00
R5933:Usp42 UTSW 5 143,701,270 (GRCm39) missense probably benign 0.00
R6192:Usp42 UTSW 5 143,702,942 (GRCm39) missense possibly damaging 0.73
R6275:Usp42 UTSW 5 143,700,727 (GRCm39) missense probably damaging 1.00
R6496:Usp42 UTSW 5 143,700,858 (GRCm39) missense probably damaging 1.00
R6825:Usp42 UTSW 5 143,713,562 (GRCm39) missense probably damaging 1.00
R7099:Usp42 UTSW 5 143,712,400 (GRCm39) missense probably damaging 1.00
R7356:Usp42 UTSW 5 143,702,842 (GRCm39) missense possibly damaging 0.56
R7876:Usp42 UTSW 5 143,707,426 (GRCm39) missense probably damaging 1.00
R8243:Usp42 UTSW 5 143,700,849 (GRCm39) missense probably benign 0.01
R8554:Usp42 UTSW 5 143,706,137 (GRCm39) missense probably damaging 0.98
R8716:Usp42 UTSW 5 143,703,696 (GRCm39) missense probably damaging 1.00
R8854:Usp42 UTSW 5 143,702,632 (GRCm39) missense possibly damaging 0.93
R8886:Usp42 UTSW 5 143,700,714 (GRCm39) missense probably damaging 1.00
R8917:Usp42 UTSW 5 143,701,695 (GRCm39) missense
R9027:Usp42 UTSW 5 143,708,906 (GRCm39) missense probably damaging 1.00
R9062:Usp42 UTSW 5 143,703,740 (GRCm39) missense possibly damaging 0.92
R9283:Usp42 UTSW 5 143,705,264 (GRCm39) missense probably damaging 1.00
R9354:Usp42 UTSW 5 143,701,027 (GRCm39) missense probably benign 0.00
R9524:Usp42 UTSW 5 143,702,704 (GRCm39) missense possibly damaging 0.85
R9620:Usp42 UTSW 5 143,703,154 (GRCm39) missense probably damaging 1.00
R9748:Usp42 UTSW 5 143,713,533 (GRCm39) critical splice donor site probably null
R9789:Usp42 UTSW 5 143,706,060 (GRCm39) missense possibly damaging 0.94
X0022:Usp42 UTSW 5 143,701,815 (GRCm39) frame shift probably null
X0027:Usp42 UTSW 5 143,702,833 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TCATACCTTGATCCTTTGGTGG -3'
(R):5'- AAGACCTCTACCACTGGAGC -3'

Sequencing Primer
(F):5'- CATACCTTGATCCTTTGGTGGTGATG -3'
(R):5'- ACCACTGGAGCTACATTCCTG -3'
Posted On 2018-11-06