Incidental Mutation 'R4034:Usp42'
ID 313619
Institutional Source Beutler Lab
Gene Symbol Usp42
Ensembl Gene ENSMUSG00000051306
Gene Name ubiquitin specific peptidase 42
Synonyms 3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e
MMRRC Submission 040962-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4034 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 143696080-143718035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 143701194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 943 (S943N)
Ref Sequence ENSEMBL: ENSMUSP00000053955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053287]
AlphaFold B2RQC2
Predicted Effect probably benign
Transcript: ENSMUST00000053287
AA Change: S943N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: S943N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155408
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Aarsd1 C T 11: 101,302,158 (GRCm39) V301I probably damaging Het
Arap1 A T 7: 101,049,484 (GRCm39) Y982F possibly damaging Het
Aspa T C 11: 73,199,597 (GRCm39) K227E possibly damaging Het
Ccdc168 A G 1: 44,098,026 (GRCm39) V1024A probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cngb1 C A 8: 95,991,078 (GRCm39) C708F possibly damaging Het
Csn1s2a A G 5: 87,929,746 (GRCm39) Q115R probably benign Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mroh9 A G 1: 162,908,122 (GRCm39) probably null Het
Muc5ac G A 7: 141,353,581 (GRCm39) probably null Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Pgm5 T A 19: 24,839,021 (GRCm39) I45F probably damaging Het
Ppl T C 16: 4,924,721 (GRCm39) T115A probably benign Het
Sgpp1 A G 12: 75,762,964 (GRCm39) Y406H probably damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Tcerg1 T A 18: 42,652,598 (GRCm39) N75K unknown Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn1r14 G A 6: 57,211,310 (GRCm39) R252H possibly damaging Het
Wapl T C 14: 34,459,871 (GRCm39) V1013A possibly damaging Het
Zfp37 G A 4: 62,109,933 (GRCm39) T414I probably damaging Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R 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
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
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'- CCCCATTGCAGTATGAATTAGTAG -3'
(R):5'- ACGGGTGTGAGCAGAAACTC -3'

Sequencing Primer
(F):5'- ATGAATTAGTAGGGTGTCGGTCC -3'
(R):5'- TACTTTACCTCAGCGCAGAG -3'
Posted On 2015-04-30