Incidental Mutation 'IGL02683:Usp42'
ID303437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp42
Ensembl Gene ENSMUSG00000051306
Gene Nameubiquitin specific peptidase 42
SynonymsA630018G05Rik, D5Ertd591e, 3110031A07Rik, 2410140K03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02683
Quality Score
Status
Chromosome5
Chromosomal Location143710325-143732280 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 143715346 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 974 (E974G)
Ref Sequence ENSEMBL: ENSMUSP00000053955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053287]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053287
AA Change: E974G

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: E974G

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars T C 8: 111,052,531 probably benign Het
Abhd3 A G 18: 10,658,790 S215P probably damaging Het
Adam20 G A 8: 40,795,584 V244M probably damaging Het
Akr1c21 A C 13: 4,576,313 D112A probably damaging Het
Ano6 A T 15: 95,948,312 Y498F probably damaging Het
Aspscr1 T C 11: 120,701,226 F263S probably damaging Het
Capn11 A G 17: 45,653,591 F100S probably damaging Het
Cd63 T C 10: 128,910,430 C9R probably damaging Het
Cenpj T C 14: 56,552,952 K547E possibly damaging Het
Clasp1 A G 1: 118,539,266 D793G probably benign Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Crybg1 A G 10: 43,989,216 S1422P possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnal1 G A 12: 84,138,354 G178D probably damaging Het
E2f7 T C 10: 110,782,459 M795T probably benign Het
Glipr1l2 T C 10: 112,083,476 V34A probably benign Het
Gm12800 T C 4: 101,910,354 S267P probably benign Het
Gsdmc2 C T 15: 63,833,412 V151M probably damaging Het
Htr7 T C 19: 35,960,362 T448A probably benign Het
Kcnj5 T C 9: 32,317,780 T41A possibly damaging Het
Kcnt1 T C 2: 25,900,925 M12T possibly damaging Het
Kif1c G A 11: 70,726,452 A871T possibly damaging Het
Map3k10 T C 7: 27,658,937 K571R probably damaging Het
Med23 C A 10: 24,870,717 A45E probably benign Het
Nudt5 C A 2: 5,863,601 S103R probably damaging Het
Olfr1154 T A 2: 87,903,104 T191S possibly damaging Het
Parp3 A G 9: 106,473,185 S369P possibly damaging Het
Plxna4 A T 6: 32,517,606 L25Q probably benign Het
Pon2 A G 6: 5,269,062 V204A probably damaging Het
Ppfia1 A G 7: 144,513,358 M463T probably damaging Het
Ppp1r14d T C 2: 119,218,822 E95G probably damaging Het
Prrc2a A G 17: 35,155,993 V1227A probably benign Het
Rabgap1 T A 2: 37,502,939 W536R probably damaging Het
Slco6d1 A G 1: 98,480,672 N431S probably benign Het
Spen C T 4: 141,471,645 V3224I probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssh2 A G 11: 77,398,256 D88G probably damaging Het
Stat5b T G 11: 100,804,946 K70T probably benign Het
Tex44 A G 1: 86,427,743 D458G probably benign Het
Tut1 T A 19: 8,965,258 C570S probably benign Het
Vezf1 A T 11: 88,076,327 Q310L probably benign Het
Vmn2r83 A T 10: 79,491,281 R574S probably benign Het
Zfp664 T C 5: 124,886,322 V260A probably benign Het
Other mutations in Usp42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Usp42 APN 5 143717142 missense probably benign 0.00
IGL00902:Usp42 APN 5 143719874 splice site probably benign
IGL01326:Usp42 APN 5 143721215 missense possibly damaging 0.54
IGL01985:Usp42 APN 5 143715185 missense probably damaging 1.00
IGL02629:Usp42 APN 5 143723154 missense possibly damaging 0.94
IGL02700:Usp42 APN 5 143717128 missense probably benign 0.01
IGL02965:Usp42 APN 5 143728014 missense probably damaging 1.00
PIT4468001:Usp42 UTSW 5 143714644 missense probably damaging 1.00
R0043:Usp42 UTSW 5 143714710 missense probably benign 0.09
R0043:Usp42 UTSW 5 143714710 missense probably benign 0.09
R0420:Usp42 UTSW 5 143714861 missense probably damaging 0.99
R1066:Usp42 UTSW 5 143718041 missense probably damaging 1.00
R1345:Usp42 UTSW 5 143717333 missense probably damaging 1.00
R1628:Usp42 UTSW 5 143717367 missense probably damaging 1.00
R1728:Usp42 UTSW 5 143714626 missense probably damaging 1.00
R1729:Usp42 UTSW 5 143714626 missense probably damaging 1.00
R1767:Usp42 UTSW 5 143714866 missense possibly damaging 0.69
R1772:Usp42 UTSW 5 143717102 missense probably damaging 1.00
R1784:Usp42 UTSW 5 143714626 missense probably damaging 1.00
R1916:Usp42 UTSW 5 143715056 missense probably damaging 1.00
R2425:Usp42 UTSW 5 143715839 missense probably benign 0.09
R2867:Usp42 UTSW 5 143715464 missense possibly damaging 0.52
R2867:Usp42 UTSW 5 143715464 missense possibly damaging 0.52
R2886:Usp42 UTSW 5 143721629 splice site probably benign
R3195:Usp42 UTSW 5 143717199 missense probably benign 0.02
R3737:Usp42 UTSW 5 143715439 missense probably benign 0.00
R3738:Usp42 UTSW 5 143715439 missense probably benign 0.00
R4034:Usp42 UTSW 5 143715439 missense probably benign 0.00
R4795:Usp42 UTSW 5 143723937 missense probably damaging 1.00
R4940:Usp42 UTSW 5 143719762 missense probably damaging 1.00
R4967:Usp42 UTSW 5 143715364 missense possibly damaging 0.71
R5282:Usp42 UTSW 5 143721646 missense probably damaging 1.00
R5773:Usp42 UTSW 5 143713712 missense probably benign 0.03
R5778:Usp42 UTSW 5 143719576 missense probably damaging 1.00
R5933:Usp42 UTSW 5 143715515 missense probably benign 0.00
R6192:Usp42 UTSW 5 143717187 missense possibly damaging 0.73
R6275:Usp42 UTSW 5 143714972 missense probably damaging 1.00
R6496:Usp42 UTSW 5 143715103 missense probably damaging 1.00
R6825:Usp42 UTSW 5 143727807 missense probably damaging 1.00
R6939:Usp42 UTSW 5 143727969 missense probably damaging 1.00
R7099:Usp42 UTSW 5 143726645 missense probably damaging 1.00
R7356:Usp42 UTSW 5 143717087 missense possibly damaging 0.56
R7876:Usp42 UTSW 5 143721671 missense probably damaging 1.00
R8243:Usp42 UTSW 5 143715094 missense probably benign 0.01
X0022:Usp42 UTSW 5 143716060 frame shift probably null
X0027:Usp42 UTSW 5 143717078 missense probably damaging 0.96
Posted On2015-04-16