Incidental Mutation 'R8410:Usp43'
ID 652634
Institutional Source Beutler Lab
Gene Symbol Usp43
Ensembl Gene ENSMUSG00000020905
Gene Name ubiquitin specific peptidase 43
Synonyms C630032K07Rik
MMRRC Submission 067880-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8410 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 67745349-67812979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 67747146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 854 (T854P)
Ref Sequence ENSEMBL: ENSMUSP00000021288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021288] [ENSMUST00000108677]
AlphaFold Q8BUM9
Predicted Effect probably damaging
Transcript: ENSMUST00000021288
AA Change: T854P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: T854P

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 damaging
Transcript: ENSMUST00000108677
AA Change: T849P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: T849P

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
Meta Mutation Damage Score 0.0708 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik A T 12: 110,635,145 (GRCm39) M131K probably benign Het
Alox15 T C 11: 70,235,753 (GRCm39) T569A probably benign Het
Arfgef1 A G 1: 10,229,867 (GRCm39) V1278A possibly damaging Het
Armc5 C T 7: 127,839,323 (GRCm39) R214C probably damaging Het
Asl A G 5: 130,042,351 (GRCm39) F242L possibly damaging Het
Atoh1 G A 6: 64,706,634 (GRCm39) G110S probably benign Het
Caskin1 T C 17: 24,721,123 (GRCm39) F488L possibly damaging Het
Chsy1 T A 7: 65,775,211 (GRCm39) L180Q probably damaging Het
D1Pas1 A T 1: 186,700,512 (GRCm39) Q147L probably benign Het
D930020B18Rik A G 10: 121,521,435 (GRCm39) probably benign Het
Dnah7b T A 1: 46,395,819 (GRCm39) probably null Het
Dsp A G 13: 38,380,791 (GRCm39) E2512G possibly damaging Het
Eci2 T C 13: 35,162,018 (GRCm39) K351R probably benign Het
Frem2 A G 3: 53,446,598 (GRCm39) V2390A possibly damaging Het
Frmpd2 G A 14: 33,217,624 (GRCm39) A40T probably damaging Het
Gapdhs G A 7: 30,437,335 (GRCm39) P77S unknown Het
Heatr5a T A 12: 51,984,903 (GRCm39) I637F probably benign Het
Jakmip1 G A 5: 37,274,828 (GRCm39) V449M possibly damaging Het
Myh14 G T 7: 44,282,907 (GRCm39) F737L probably damaging Het
Nbea A G 3: 55,944,684 (GRCm39) V560A probably damaging Het
Or13n4 T A 7: 106,423,745 (GRCm39) probably benign Het
Or2v2 A T 11: 49,004,511 (GRCm39) I14N possibly damaging Het
Or4f4-ps1 T A 2: 111,330,047 (GRCm39) M150K probably damaging Het
Or6x1 C T 9: 40,098,732 (GRCm39) T107I possibly damaging Het
Prex2 G T 1: 11,223,881 (GRCm39) R735L possibly damaging Het
Rrm2 T C 12: 24,758,622 (GRCm39) S55P probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ruvbl2 T C 7: 45,080,756 (GRCm39) I19V probably benign Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Slc15a5 A T 6: 137,989,153 (GRCm39) M147K Het
St3gal5 A G 6: 72,119,281 (GRCm39) D158G probably benign Het
Stac3 G A 10: 127,339,199 (GRCm39) D103N probably damaging Het
Syt2 G A 1: 134,674,602 (GRCm39) E347K possibly damaging Het
Tent5b A G 4: 133,214,362 (GRCm39) Q411R possibly damaging Het
Ticrr A G 7: 79,317,423 (GRCm39) E319G probably damaging Het
Ttn A G 2: 76,539,985 (GRCm39) S34334P probably damaging Het
Uqcrb C A 13: 67,048,850 (GRCm39) R100L unknown Het
Vmn2r102 T C 17: 19,898,196 (GRCm39) Y404H possibly damaging Het
Wrn C T 8: 33,759,048 (GRCm39) G970D probably damaging Het
Zfp456 A G 13: 67,520,915 (GRCm39) Y27H probably damaging Het
Zfp516 G T 18: 82,974,458 (GRCm39) G219C probably damaging Het
Zyx A T 6: 42,333,384 (GRCm39) N437Y probably benign Het
Other mutations in Usp43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Usp43 APN 11 67,782,245 (GRCm39) missense probably benign 0.08
IGL01536:Usp43 APN 11 67,746,764 (GRCm39) missense probably benign 0.01
IGL01754:Usp43 APN 11 67,747,007 (GRCm39) missense probably benign 0.06
IGL02057:Usp43 APN 11 67,747,113 (GRCm39) missense probably benign 0.02
IGL02638:Usp43 APN 11 67,746,581 (GRCm39) missense probably benign 0.06
IGL03105:Usp43 APN 11 67,770,802 (GRCm39) missense possibly damaging 0.82
IGL03155:Usp43 APN 11 67,767,315 (GRCm39) missense probably damaging 1.00
IGL03380:Usp43 APN 11 67,766,142 (GRCm39) missense possibly damaging 0.67
R0207:Usp43 UTSW 11 67,767,325 (GRCm39) missense probably damaging 1.00
R0308:Usp43 UTSW 11 67,770,966 (GRCm39) missense probably damaging 1.00
R0350:Usp43 UTSW 11 67,767,324 (GRCm39) missense probably damaging 1.00
R0479:Usp43 UTSW 11 67,788,100 (GRCm39) missense possibly damaging 0.96
R1451:Usp43 UTSW 11 67,747,007 (GRCm39) missense probably benign 0.01
R1686:Usp43 UTSW 11 67,778,593 (GRCm39) missense probably damaging 0.99
R1750:Usp43 UTSW 11 67,770,779 (GRCm39) missense probably damaging 1.00
R1956:Usp43 UTSW 11 67,795,159 (GRCm39) missense probably damaging 1.00
R2107:Usp43 UTSW 11 67,746,566 (GRCm39) frame shift probably null
R2108:Usp43 UTSW 11 67,746,566 (GRCm39) frame shift probably null
R2112:Usp43 UTSW 11 67,812,536 (GRCm39) missense probably damaging 1.00
R2162:Usp43 UTSW 11 67,770,795 (GRCm39) missense probably damaging 1.00
R2336:Usp43 UTSW 11 67,782,258 (GRCm39) nonsense probably null
R4031:Usp43 UTSW 11 67,804,659 (GRCm39) missense probably damaging 1.00
R4355:Usp43 UTSW 11 67,782,290 (GRCm39) missense probably benign 0.01
R4410:Usp43 UTSW 11 67,746,716 (GRCm39) missense probably benign 0.00
R4479:Usp43 UTSW 11 67,747,233 (GRCm39) missense possibly damaging 0.96
R4569:Usp43 UTSW 11 67,789,788 (GRCm39) missense probably damaging 1.00
R4569:Usp43 UTSW 11 67,766,178 (GRCm39) nonsense probably null
R4737:Usp43 UTSW 11 67,746,331 (GRCm39) missense probably damaging 1.00
R5395:Usp43 UTSW 11 67,788,184 (GRCm39) critical splice acceptor site probably null
R5466:Usp43 UTSW 11 67,804,709 (GRCm39) missense probably damaging 0.99
R5686:Usp43 UTSW 11 67,812,742 (GRCm39) unclassified probably benign
R6106:Usp43 UTSW 11 67,770,733 (GRCm39) missense probably benign 0.00
R7205:Usp43 UTSW 11 67,774,110 (GRCm39) missense probably null 1.00
R7360:Usp43 UTSW 11 67,767,155 (GRCm39) splice site probably null
R7426:Usp43 UTSW 11 67,783,842 (GRCm39) missense possibly damaging 0.60
R7755:Usp43 UTSW 11 67,782,294 (GRCm39) missense possibly damaging 0.94
R7937:Usp43 UTSW 11 67,746,615 (GRCm39) missense probably damaging 0.96
R8054:Usp43 UTSW 11 67,782,284 (GRCm39) missense probably damaging 0.96
R8792:Usp43 UTSW 11 67,767,244 (GRCm39) nonsense probably null
R8865:Usp43 UTSW 11 67,789,788 (GRCm39) missense probably damaging 1.00
R8879:Usp43 UTSW 11 67,789,707 (GRCm39) splice site probably benign
R8906:Usp43 UTSW 11 67,782,307 (GRCm39) missense possibly damaging 0.51
R9287:Usp43 UTSW 11 67,770,922 (GRCm39) missense probably damaging 0.98
R9303:Usp43 UTSW 11 67,767,345 (GRCm39) missense probably damaging 1.00
R9305:Usp43 UTSW 11 67,767,345 (GRCm39) missense probably damaging 1.00
Z1088:Usp43 UTSW 11 67,746,866 (GRCm39) missense probably benign 0.39
Z1176:Usp43 UTSW 11 67,812,667 (GRCm39) missense unknown
Z1177:Usp43 UTSW 11 67,812,858 (GRCm39) missense unknown
Z1177:Usp43 UTSW 11 67,746,634 (GRCm39) missense possibly damaging 0.56
Z1186:Usp43 UTSW 11 67,747,332 (GRCm39) missense probably benign 0.41
Z1186:Usp43 UTSW 11 67,746,545 (GRCm39) small insertion probably benign
Z1187:Usp43 UTSW 11 67,747,332 (GRCm39) missense probably benign 0.41
Z1187:Usp43 UTSW 11 67,746,545 (GRCm39) small insertion probably benign
Z1188:Usp43 UTSW 11 67,747,332 (GRCm39) missense probably benign 0.41
Z1188:Usp43 UTSW 11 67,746,545 (GRCm39) small insertion probably benign
Z1189:Usp43 UTSW 11 67,747,332 (GRCm39) missense probably benign 0.41
Z1189:Usp43 UTSW 11 67,746,545 (GRCm39) small insertion probably benign
Z1190:Usp43 UTSW 11 67,747,332 (GRCm39) missense probably benign 0.41
Z1190:Usp43 UTSW 11 67,746,549 (GRCm39) small insertion probably benign
Z1190:Usp43 UTSW 11 67,746,545 (GRCm39) small insertion probably benign
Z1191:Usp43 UTSW 11 67,747,332 (GRCm39) missense probably benign 0.41
Z1191:Usp43 UTSW 11 67,746,545 (GRCm39) small insertion probably benign
Z1192:Usp43 UTSW 11 67,747,332 (GRCm39) missense probably benign 0.41
Z1192:Usp43 UTSW 11 67,746,545 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- TTGGGAGCCTGATATCCTGAC -3'
(R):5'- ATCAGCATGAAGGCATCTCC -3'

Sequencing Primer
(F):5'- GGAGCCTGATATCCTGACTTACATTC -3'
(R):5'- CTGCTTCCCGATCCAGGC -3'
Posted On 2020-10-20