Incidental Mutation 'IGL02638:Usp43'
ID301597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp43
Ensembl Gene ENSMUSG00000020905
Gene Nameubiquitin specific peptidase 43
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02638
Quality Score
Status
Chromosome11
Chromosomal Location67854523-67922153 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 67855755 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 1042 (D1042A)
Ref Sequence ENSEMBL: ENSMUSP00000021288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021288] [ENSMUST00000108677]
Predicted Effect probably benign
Transcript: ENSMUST00000021288
AA Change: D1042A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: D1042A

DomainStartEndE-ValueType
low complexity region 8 54 N/A INTRINSIC
low complexity region 59 87 N/A INTRINSIC
Pfam:UCH 100 707 2.8e-61 PFAM
Pfam:UCH_1 101 297 1.3e-6 PFAM
Pfam:UCH_1 503 689 5.2e-13 PFAM
low complexity region 717 731 N/A INTRINSIC
low complexity region 958 972 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108677
AA Change: D1037A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: D1037A

DomainStartEndE-ValueType
low complexity region 8 54 N/A INTRINSIC
low complexity region 59 87 N/A INTRINSIC
Pfam:UCH 100 702 3.5e-54 PFAM
Pfam:UCH_1 101 298 2.7e-7 PFAM
Pfam:UCH_1 503 684 1.2e-9 PFAM
low complexity region 712 726 N/A INTRINSIC
low complexity region 953 967 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129961
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A T 9: 22,430,479 K149* probably null Het
A830010M20Rik T C 5: 107,508,556 V895A possibly damaging Het
Alkbh3 T A 2: 94,008,113 T38S probably benign Het
BC055324 G A 1: 163,959,299 Q734* probably null Het
Cdkn2c A G 4: 109,665,012 probably benign Het
Clca4b A C 3: 144,926,178 C189G probably damaging Het
Clec4f T A 6: 83,652,700 N292I possibly damaging Het
Dkk3 A C 7: 112,149,027 S123R probably benign Het
Dock1 C T 7: 135,146,480 A1557V probably benign Het
E130308A19Rik C T 4: 59,719,676 Q403* probably null Het
F5 G A 1: 164,184,608 probably null Het
Fam98c T A 7: 29,152,762 D326V probably damaging Het
Frem2 A C 3: 53,551,346 V2034G possibly damaging Het
Galnt2 G A 8: 124,231,579 G18D probably damaging Het
Gm8394 T C 10: 85,313,834 noncoding transcript Het
Grhl3 T C 4: 135,556,865 E222G probably benign Het
Hif3a A C 7: 17,044,368 probably benign Het
Ibtk C T 9: 85,719,893 G755D probably damaging Het
Laptm4b A G 15: 34,277,484 N187S probably benign Het
Lrba A G 3: 86,325,073 T776A probably damaging Het
Mfhas1 T A 8: 35,590,950 W860R possibly damaging Het
Mon2 A C 10: 123,023,939 W811G probably damaging Het
Nupl2 A G 5: 24,175,507 T167A probably benign Het
Olfr1062 T C 2: 86,423,677 probably null Het
Olfr1128 T C 2: 87,544,749 Y265C probably damaging Het
Olfr1295 T C 2: 111,564,904 D180G probably damaging Het
Olfr30 C A 11: 58,455,047 A301S probably damaging Het
Olfr418 A G 1: 173,270,331 D52G probably benign Het
Pgap2 T C 7: 102,237,422 L217P probably damaging Het
Pik3c2b T G 1: 133,077,318 probably benign Het
Ppfia3 T A 7: 45,356,668 D149V probably damaging Het
Prkcb C T 7: 122,600,840 probably benign Het
Prl A G 13: 27,061,579 D97G probably benign Het
Rnf112 T C 11: 61,449,405 probably benign Het
Slc17a8 C A 10: 89,576,603 G323* probably null Het
Snx19 T C 9: 30,432,364 F607L possibly damaging Het
Suco A G 1: 161,827,687 S1079P probably damaging Het
Taf5 T C 19: 47,068,210 L149P probably benign Het
Taf6l T C 19: 8,775,266 M379V probably benign Het
Tcf25 T C 8: 123,399,292 F558L probably damaging Het
Tlcd1 T C 11: 78,179,618 V102A probably benign Het
Tmc5 G T 7: 118,627,233 A274S probably benign Het
Toporsl C T 4: 52,611,624 H506Y probably benign Het
Ubtd1 T C 19: 42,033,670 L127P possibly damaging Het
Usp24 A C 4: 106,438,770 probably benign Het
Usp24 C A 4: 106,438,772 probably benign Het
Whrn T C 4: 63,419,472 T48A possibly damaging Het
Wnt2b A G 3: 104,954,716 I102T probably benign Het
Zfp763 T C 17: 33,019,934 D79G probably benign Het
Zmat4 A G 8: 23,797,373 Y45C probably damaging Het
Other mutations in Usp43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Usp43 APN 11 67891419 missense probably benign 0.08
IGL01536:Usp43 APN 11 67855938 missense probably benign 0.01
IGL01754:Usp43 APN 11 67856181 missense probably benign 0.06
IGL02057:Usp43 APN 11 67856287 missense probably benign 0.02
IGL03105:Usp43 APN 11 67879976 missense possibly damaging 0.82
IGL03155:Usp43 APN 11 67876489 missense probably damaging 1.00
IGL03380:Usp43 APN 11 67875316 missense possibly damaging 0.67
R0207:Usp43 UTSW 11 67876499 missense probably damaging 1.00
R0308:Usp43 UTSW 11 67880140 missense probably damaging 1.00
R0350:Usp43 UTSW 11 67876498 missense probably damaging 1.00
R0479:Usp43 UTSW 11 67897274 missense possibly damaging 0.96
R1451:Usp43 UTSW 11 67856181 missense probably benign 0.01
R1686:Usp43 UTSW 11 67887767 missense probably damaging 0.99
R1750:Usp43 UTSW 11 67879953 missense probably damaging 1.00
R1956:Usp43 UTSW 11 67904333 missense probably damaging 1.00
R2107:Usp43 UTSW 11 67855740 frame shift probably null
R2108:Usp43 UTSW 11 67855740 frame shift probably null
R2112:Usp43 UTSW 11 67921710 missense probably damaging 1.00
R2162:Usp43 UTSW 11 67879969 missense probably damaging 1.00
R2336:Usp43 UTSW 11 67891432 nonsense probably null
R4031:Usp43 UTSW 11 67913833 missense probably damaging 1.00
R4355:Usp43 UTSW 11 67891464 missense probably benign 0.01
R4410:Usp43 UTSW 11 67855890 missense probably benign 0.00
R4479:Usp43 UTSW 11 67856407 missense possibly damaging 0.96
R4569:Usp43 UTSW 11 67875352 nonsense probably null
R4569:Usp43 UTSW 11 67898962 missense probably damaging 1.00
R4737:Usp43 UTSW 11 67855505 missense probably damaging 1.00
R5395:Usp43 UTSW 11 67897358 critical splice acceptor site probably null
R5466:Usp43 UTSW 11 67913883 missense probably damaging 0.99
R5686:Usp43 UTSW 11 67921916 unclassified probably benign
R6106:Usp43 UTSW 11 67879907 missense probably benign 0.00
R7205:Usp43 UTSW 11 67883284 missense probably null 1.00
R7360:Usp43 UTSW 11 67876329 intron probably null
R7426:Usp43 UTSW 11 67893016 missense possibly damaging 0.60
R7755:Usp43 UTSW 11 67891468 missense possibly damaging 0.94
R8054:Usp43 UTSW 11 67891458 missense probably damaging 0.96
Z1088:Usp43 UTSW 11 67856040 missense probably benign 0.39
Z1176:Usp43 UTSW 11 67921841 missense unknown
Z1177:Usp43 UTSW 11 67855808 missense possibly damaging 0.56
Z1177:Usp43 UTSW 11 67922032 missense unknown
Posted On2015-04-16