Incidental Mutation 'R8554:Usp42'
ID 660018
Institutional Source Beutler Lab
Gene Symbol Usp42
Ensembl Gene ENSMUSG00000051306
Gene Name ubiquitin specific peptidase 42
Synonyms 3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e
MMRRC Submission 068517-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 143696080-143718035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143706137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 294 (K294N)
Ref Sequence ENSEMBL: ENSMUSP00000053955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053287]
AlphaFold B2RQC2
Predicted Effect probably damaging
Transcript: ENSMUST00000053287
AA Change: K294N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: K294N

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Aopep T A 13: 63,444,711 (GRCm39) Y94N possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Crat A G 2: 30,300,035 (GRCm39) V115A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Eln A C 5: 134,738,964 (GRCm39) probably benign Het
Ep300 A G 15: 81,523,228 (GRCm39) E1284G unknown Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Golga2 G A 2: 32,183,357 (GRCm39) D80N probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kdf1 A G 4: 133,256,188 (GRCm39) I302V probably damaging Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Marchf6 G A 15: 31,482,976 (GRCm39) H476Y probably damaging Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2aa1 A T 11: 59,480,312 (GRCm39) L201Q possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rab35 A C 5: 115,783,690 (GRCm39) probably null Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rnf214 C A 9: 45,778,797 (GRCm39) probably null Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnfrsf8 A C 4: 145,023,511 (GRCm39) C107W probably damaging Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M probably benign 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
R6939:Usp42 UTSW 5 143,713,724 (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
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'- TGACTGTGCATCTTGACCAC -3'
(R):5'- AACTGCCAGCTTACATCTCCTG -3'

Sequencing Primer
(F):5'- GACTGTGCATCTTGACCACTTTAC -3'
(R):5'- AACATGGGCCCTTGTGCATAC -3'
Posted On 2021-01-18