Incidental Mutation 'IGL01326:Usp42'
ID 74260
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp42
Ensembl Gene ENSMUSG00000051306
Gene Name ubiquitin specific peptidase 42
Synonyms 3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01326
Quality Score
Status
Chromosome 5
Chromosomal Location 143696080-143718035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143706970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 270 (T270A)
Ref Sequence ENSEMBL: ENSMUSP00000053955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053287]
AlphaFold B2RQC2
Predicted Effect possibly damaging
Transcript: ENSMUST00000053287
AA Change: T270A

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: T270A

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: ENSMUST00000129606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155408
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 137,992,672 (GRCm39) V263M probably damaging Het
Akap13 T A 7: 75,375,096 (GRCm39) H1909Q probably benign Het
Atg2b C T 12: 105,588,403 (GRCm39) A1936T probably damaging Het
Atp8b3 G T 10: 80,360,210 (GRCm39) L954M probably damaging Het
C8a T C 4: 104,713,617 (GRCm39) Y171C probably damaging Het
Cd6 A G 19: 10,768,466 (GRCm39) S508P probably benign Het
Cdk4 A G 10: 126,900,492 (GRCm39) D86G possibly damaging Het
Cdr2l G T 11: 115,281,796 (GRCm39) R100S probably benign Het
Cndp1 T A 18: 84,640,357 (GRCm39) T283S probably benign Het
Cr2 T C 1: 194,823,529 (GRCm39) Y1023C probably null Het
Csmd3 A G 15: 47,713,181 (GRCm39) F1494L probably benign Het
Eeig2 A G 3: 108,887,101 (GRCm39) V299A possibly damaging Het
Eng G T 2: 32,562,394 (GRCm39) G231W probably benign Het
Erp44 A G 4: 48,218,126 (GRCm39) V181A probably benign Het
Fkbp15 A G 4: 62,241,487 (GRCm39) S553P probably damaging Het
Glg1 A G 8: 111,909,205 (GRCm39) V495A probably damaging Het
Gm9631 A T 11: 121,836,454 (GRCm39) D28E possibly damaging Het
Gnptab G T 10: 88,268,927 (GRCm39) L543F probably damaging Het
H4c3 A T 13: 23,882,353 (GRCm39) I27N probably damaging Het
Khdrbs2 T G 1: 32,696,558 (GRCm39) L329R possibly damaging Het
Kidins220 C A 12: 25,088,498 (GRCm39) H1080Q probably damaging Het
Maml1 G A 11: 50,156,715 (GRCm39) P487S probably benign Het
Me1 C T 9: 86,480,771 (GRCm39) probably null Het
Morc2a C T 11: 3,631,775 (GRCm39) R569C probably benign Het
Mrc1 A G 2: 14,271,335 (GRCm39) Q413R probably damaging Het
Mrgprx1 A T 7: 47,671,517 (GRCm39) C77S probably benign Het
Mtarc2 T C 1: 184,566,048 (GRCm39) probably benign Het
Myo1d A T 11: 80,575,147 (GRCm39) probably benign Het
Nr4a1 T G 15: 101,171,940 (GRCm39) L538R probably damaging Het
Olfm1 T C 2: 28,119,564 (GRCm39) Y385H probably damaging Het
Or4a39 A T 2: 89,236,675 (GRCm39) F249L possibly damaging Het
Or5m9 A G 2: 85,877,627 (GRCm39) E267G probably damaging Het
Pkd1 T A 17: 24,795,148 (GRCm39) Y2278* probably null Het
Plcg2 T C 8: 118,300,738 (GRCm39) probably benign Het
Prkdc G T 16: 15,647,556 (GRCm39) C3660F probably benign Het
Ptpn11 T C 5: 121,281,199 (GRCm39) D493G probably damaging Het
Rad23b T A 4: 55,383,601 (GRCm39) F278I possibly damaging Het
Saxo2 T C 7: 82,297,613 (GRCm39) I9V probably benign Het
Scn7a T C 2: 66,582,604 (GRCm39) I98V probably benign Het
Serac1 T A 17: 6,124,528 (GRCm39) probably benign Het
Simc1 T C 13: 54,672,473 (GRCm39) C274R probably benign Het
Sirt3 A G 7: 140,444,006 (GRCm39) probably benign Het
Tctn3 A G 19: 40,585,880 (GRCm39) L555P probably damaging Het
Ttc14 A G 3: 33,855,507 (GRCm39) I151V probably benign Het
Ush2a T A 1: 187,995,518 (GRCm39) Y96* probably null Het
Vmn1r31 A G 6: 58,449,784 (GRCm39) I27T probably benign Het
Vmn2r93 G A 17: 18,536,906 (GRCm39) A530T possibly 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
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
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
Posted On 2013-10-07