Incidental Mutation 'R4031:Usp43'
ID 313504
Institutional Source Beutler Lab
Gene Symbol Usp43
Ensembl Gene ENSMUSG00000020905
Gene Name ubiquitin specific peptidase 43
Synonyms C630032K07Rik
MMRRC Submission 040960-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4031 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 67745349-67812979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 67804659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 186 (A186D)
Ref Sequence ENSEMBL: ENSMUSP00000104317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021288] [ENSMUST00000108677]
AlphaFold Q8BUM9
Predicted Effect probably damaging
Transcript: ENSMUST00000021288
AA Change: A186D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: A186D

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: A186D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: A186D

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: ENSMUST00000152120
Meta Mutation Damage Score 0.8449 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 95% (52/55)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 G T 8: 87,244,077 (GRCm39) F1025L probably damaging Het
Acss2 C T 2: 155,399,130 (GRCm39) T477I probably damaging Het
Aplp2 G A 9: 31,069,026 (GRCm39) P601L probably benign Het
Arl2bp T C 8: 95,394,281 (GRCm39) I32T probably damaging Het
Avpi1 C A 19: 42,113,180 (GRCm39) probably benign Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Ccdc150 T A 1: 54,317,970 (GRCm39) M303K probably benign Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Copa T C 1: 171,935,942 (GRCm39) V428A probably damaging Het
Crybb3 A G 5: 113,227,735 (GRCm39) Y29H probably damaging Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Disp2 T C 2: 118,622,361 (GRCm39) I1031T probably benign Het
Elf1 A C 14: 79,806,723 (GRCm39) K161Q probably damaging Het
Fndc1 A T 17: 7,988,584 (GRCm39) Y1159* probably null Het
Hspa12a T C 19: 58,789,289 (GRCm39) N449S probably benign Het
Hyal4 A G 6: 24,756,223 (GRCm39) E147G probably damaging Het
Hydin T C 8: 111,336,679 (GRCm39) I5152T probably benign Het
Ighv9-1 C T 12: 114,057,844 (GRCm39) A19T probably benign Het
Kcnt1 T G 2: 25,806,060 (GRCm39) S1216R possibly damaging Het
Kdm5d T A Y: 916,910 (GRCm39) V435E probably damaging Het
Klhl30 G A 1: 91,288,879 (GRCm39) R546H probably benign Het
Lrp1b C T 2: 40,592,860 (GRCm39) G3753D probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Macf1 A G 4: 123,275,105 (GRCm39) L6303P probably damaging Het
Mblac2 T C 13: 81,898,208 (GRCm39) S195P possibly damaging Het
Mindy3 A C 2: 12,405,894 (GRCm39) probably null Het
Neurod1 C T 2: 79,284,370 (GRCm39) D338N probably benign Het
Polr1e A T 4: 45,018,685 (GRCm39) E5V probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Ppp2r2a T C 14: 67,266,425 (GRCm39) S79G probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Rap1gds1 T C 3: 138,756,353 (GRCm39) probably benign Het
Rsph10b A G 5: 143,922,486 (GRCm39) probably null Het
Slc26a10 A G 10: 127,013,871 (GRCm39) V297A possibly damaging Het
Slc26a5 T C 5: 22,052,189 (GRCm39) K47E probably damaging Het
Slurp1 T C 15: 74,599,336 (GRCm39) E58G probably damaging Het
Spo11 T A 2: 172,828,625 (GRCm39) probably benign Het
Tm9sf4 T C 2: 153,040,264 (GRCm39) probably benign Het
Trak1 T C 9: 121,280,736 (GRCm39) I272T probably damaging Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Unc79 T A 12: 103,039,018 (GRCm39) S671T possibly damaging Het
Vmn2r107 G A 17: 20,595,483 (GRCm39) V679I probably benign Het
Vsig10l C T 7: 43,114,798 (GRCm39) A333V probably damaging Het
Vwa3a G A 7: 120,367,455 (GRCm39) probably null Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Wnk1 T C 6: 119,928,029 (GRCm39) T1141A probably damaging Het
Zfp236 T A 18: 82,642,590 (GRCm39) E1052V probably damaging Het
Zfp317 A T 9: 19,558,008 (GRCm39) H163L possibly damaging Het
Zfp975 G A 7: 42,312,377 (GRCm39) Q79* probably null 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
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
R8410:Usp43 UTSW 11 67,747,146 (GRCm39) missense probably damaging 1.00
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'- TACACAGTGACTGGAAGACAC -3'
(R):5'- AGCGCCTTGTATTCAGAGGAC -3'

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