Incidental Mutation 'R5185:Cul9'
ID 397843
Institutional Source Beutler Lab
Gene Symbol Cul9
Ensembl Gene ENSMUSG00000040327
Gene Name cullin 9
Synonyms Parc, 1810035I07Rik
MMRRC Submission 042764-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R5185 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46811535-46857314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46836758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1089 (V1089D)
Ref Sequence ENSEMBL: ENSMUSP00000138418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066026] [ENSMUST00000182485]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000066026
AA Change: V1089D

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000067736
Gene: ENSMUSG00000040327
AA Change: V1089D

DomainStartEndE-ValueType
low complexity region 46 61 N/A INTRINSIC
low complexity region 119 131 N/A INTRINSIC
low complexity region 345 357 N/A INTRINSIC
Pfam:Cul7 367 441 1e-35 PFAM
low complexity region 447 460 N/A INTRINSIC
low complexity region 525 540 N/A INTRINSIC
low complexity region 845 860 N/A INTRINSIC
low complexity region 873 880 N/A INTRINSIC
APC10 1166 1325 1.97e-56 SMART
low complexity region 1437 1450 N/A INTRINSIC
low complexity region 1563 1578 N/A INTRINSIC
low complexity region 1646 1671 N/A INTRINSIC
Cullin_Nedd8 1867 1950 7.55e-6 SMART
Blast:RING 2074 2122 2e-13 BLAST
IBR 2144 2207 8.99e-14 SMART
IBR 2228 2283 4.66e-2 SMART
low complexity region 2503 2520 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182451
Predicted Effect possibly damaging
Transcript: ENSMUST00000182485
AA Change: V1089D

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138418
Gene: ENSMUSG00000040327
AA Change: V1089D

DomainStartEndE-ValueType
low complexity region 46 61 N/A INTRINSIC
low complexity region 119 131 N/A INTRINSIC
low complexity region 345 357 N/A INTRINSIC
Pfam:Cul7 367 442 1.4e-33 PFAM
low complexity region 447 460 N/A INTRINSIC
low complexity region 525 540 N/A INTRINSIC
low complexity region 845 860 N/A INTRINSIC
low complexity region 873 880 N/A INTRINSIC
APC10 1166 1325 1.97e-56 SMART
low complexity region 1437 1450 N/A INTRINSIC
low complexity region 1563 1578 N/A INTRINSIC
low complexity region 1646 1671 N/A INTRINSIC
Cullin_Nedd8 1867 1950 7.55e-6 SMART
Blast:RING 2074 2122 3e-13 BLAST
IBR 2144 2207 8.99e-14 SMART
IBR 2228 2283 4.66e-2 SMART
coiled coil region 2461 2497 N/A INTRINSIC
low complexity region 2513 2530 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182799
Meta Mutation Damage Score 0.1442 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 95% (70/74)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, increased incidence of tumors, and decreased cellular sensitivity to radiation-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf2 T C 11: 94,453,737 (GRCm39) Y408C probably damaging Het
Aox4 T C 1: 58,293,477 (GRCm39) L943S probably damaging Het
Ap1g1 G A 8: 110,589,958 (GRCm39) probably benign Het
Arsb T C 13: 93,930,667 (GRCm39) S212P probably damaging Het
Arsi A G 18: 61,049,984 (GRCm39) N289S probably damaging Het
Atp6v1h T A 1: 5,165,865 (GRCm39) F72I probably damaging Het
Atxn7 T C 14: 14,090,063 (GRCm38) I336T probably benign Het
Bak1 G A 17: 27,241,722 (GRCm39) P65L possibly damaging Het
Bcl6 A T 16: 23,791,697 (GRCm39) M219K possibly damaging Het
Brd3 T C 2: 27,352,460 (GRCm39) K157E probably damaging Het
Ccdc171 T G 4: 83,581,892 (GRCm39) S674A possibly damaging Het
Cfap43 A G 19: 47,768,833 (GRCm39) I737T probably benign Het
Dffa C A 4: 149,201,887 (GRCm39) A155E probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Efcab12 T A 6: 115,800,451 (GRCm39) M191L probably benign Het
Efl1 T C 7: 82,421,707 (GRCm39) L1018P probably damaging Het
Fcho1 A G 8: 72,167,600 (GRCm39) probably benign Het
Fndc3b T A 3: 27,511,219 (GRCm39) T764S probably benign Het
Gm29125 T C 1: 80,361,948 (GRCm39) noncoding transcript Het
Gm5108 A G 5: 68,101,953 (GRCm39) probably benign Het
Gm9949 T G 18: 62,313,636 (GRCm39) probably benign Het
Golgb1 T C 16: 36,695,503 (GRCm39) probably benign Het
Gpd2 T C 2: 57,230,216 (GRCm39) Y323H probably damaging Het
Grip1 T G 10: 119,767,164 (GRCm39) D96E probably benign Het
Hmcn1 T C 1: 150,532,492 (GRCm39) I3132V probably benign Het
Hsd17b1 T C 11: 100,971,024 (GRCm39) W327R possibly damaging Het
Htra2 G A 6: 83,031,223 (GRCm39) P62L probably benign Het
Kdr A T 5: 76,113,077 (GRCm39) probably null Het
Kif14 T A 1: 136,455,207 (GRCm39) C1626* probably null Het
Kmt2a A T 9: 44,731,543 (GRCm39) probably benign Het
Krt15 T C 11: 100,024,259 (GRCm39) T321A probably damaging Het
Lactbl1 A T 4: 136,358,356 (GRCm39) H109L probably benign Het
Lilra6 T A 7: 3,917,635 (GRCm39) H120L probably benign Het
Lpcat2 G A 8: 93,596,365 (GRCm39) S134N probably benign Het
Mpp4 T C 1: 59,164,742 (GRCm39) D465G probably benign Het
Naip2 A T 13: 100,325,859 (GRCm39) D16E probably damaging Het
Nek5 C T 8: 22,573,397 (GRCm39) A520T possibly damaging Het
Nfatc2 A G 2: 168,412,627 (GRCm39) F132L possibly damaging Het
Nlrp3 C A 11: 59,455,910 (GRCm39) T902N probably benign Het
Or10d1b A T 9: 39,613,172 (GRCm39) W298R probably benign Het
Or4c123 A T 2: 89,126,731 (GRCm39) H294Q probably benign Het
Or7e165 T C 9: 19,694,672 (GRCm39) M81T probably damaging Het
Or8h7 T C 2: 86,720,946 (GRCm39) D191G probably benign Het
Pcdhb16 T C 18: 37,613,142 (GRCm39) S701P possibly damaging Het
Phf7 A G 14: 30,969,994 (GRCm39) probably null Het
Plpp4 G A 7: 128,918,028 (GRCm39) V68M probably damaging Het
Pnma2 A T 14: 67,153,578 (GRCm39) M1L possibly damaging Het
Pnma8b A T 7: 16,679,901 (GRCm39) D295V probably damaging Het
Rad21l T C 2: 151,499,382 (GRCm39) D270G probably benign Het
Ralgapa2 C A 2: 146,230,406 (GRCm39) probably null Het
Rasal3 A T 17: 32,615,764 (GRCm39) L334Q probably damaging Het
Rfx4 G T 10: 84,699,114 (GRCm39) R240L probably damaging Het
Rnf19b T A 4: 128,977,713 (GRCm39) C642* probably null Het
Slc28a2 G A 2: 122,288,675 (GRCm39) E594K probably benign Het
Spata31 G T 13: 65,065,340 (GRCm39) W15L possibly damaging Het
Spink5 T C 18: 44,148,711 (GRCm39) S925P probably damaging Het
Svep1 C T 4: 58,084,534 (GRCm39) G1865S probably damaging Het
Tg T C 15: 66,645,323 (GRCm39) L791P probably damaging Het
Thbs4 A C 13: 92,911,675 (GRCm39) V247G probably damaging Het
Tpcn2 A T 7: 144,809,191 (GRCm39) F705Y probably damaging Het
Try10 A T 6: 41,333,483 (GRCm39) H76L probably damaging Het
Ttn C T 2: 76,769,565 (GRCm39) V2695I probably damaging Het
Tut1 C A 19: 8,932,814 (GRCm39) T49N probably benign Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Xdh G A 17: 74,232,006 (GRCm39) R235C probably damaging Het
Yipf4 A G 17: 74,799,470 (GRCm39) D70G probably null Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Other mutations in Cul9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Cul9 APN 17 46,836,635 (GRCm39) missense probably damaging 1.00
IGL00330:Cul9 APN 17 46,821,767 (GRCm39) splice site probably benign
IGL00726:Cul9 APN 17 46,839,022 (GRCm39) missense probably damaging 1.00
IGL01020:Cul9 APN 17 46,849,949 (GRCm39) missense probably damaging 1.00
IGL01358:Cul9 APN 17 46,849,240 (GRCm39) missense probably damaging 1.00
IGL01410:Cul9 APN 17 46,839,572 (GRCm39) missense probably damaging 0.99
IGL01781:Cul9 APN 17 46,850,230 (GRCm39) missense probably benign
IGL01873:Cul9 APN 17 46,813,378 (GRCm39) missense probably damaging 0.99
IGL02117:Cul9 APN 17 46,851,301 (GRCm39) missense probably benign 0.00
IGL02300:Cul9 APN 17 46,831,958 (GRCm39) splice site probably benign
IGL02426:Cul9 APN 17 46,834,184 (GRCm39) missense possibly damaging 0.95
IGL02427:Cul9 APN 17 46,813,558 (GRCm39) missense possibly damaging 0.69
IGL02496:Cul9 APN 17 46,851,302 (GRCm39) missense possibly damaging 0.72
IGL03008:Cul9 APN 17 46,813,623 (GRCm39) splice site probably benign
IGL03059:Cul9 APN 17 46,849,913 (GRCm39) missense probably damaging 0.98
IGL03302:Cul9 APN 17 46,837,566 (GRCm39) missense probably damaging 0.98
bottlenose UTSW 17 46,811,770 (GRCm39) missense possibly damaging 0.79
flipper UTSW 17 46,836,818 (GRCm39) missense probably benign 0.05
orca UTSW 17 46,836,061 (GRCm39) missense probably damaging 1.00
FR4340:Cul9 UTSW 17 46,811,779 (GRCm39) small insertion probably benign
FR4449:Cul9 UTSW 17 46,811,782 (GRCm39) small insertion probably benign
FR4737:Cul9 UTSW 17 46,811,784 (GRCm39) small insertion probably benign
FR4737:Cul9 UTSW 17 46,811,772 (GRCm39) small insertion probably benign
FR4976:Cul9 UTSW 17 46,811,779 (GRCm39) small insertion probably benign
FR4976:Cul9 UTSW 17 46,811,776 (GRCm39) small insertion probably benign
FR4976:Cul9 UTSW 17 46,811,774 (GRCm39) small insertion probably benign
FR4976:Cul9 UTSW 17 46,811,782 (GRCm39) small insertion probably benign
R0012:Cul9 UTSW 17 46,849,436 (GRCm39) missense probably benign 0.26
R0079:Cul9 UTSW 17 46,848,589 (GRCm39) nonsense probably null
R0143:Cul9 UTSW 17 46,837,336 (GRCm39) missense possibly damaging 0.65
R0390:Cul9 UTSW 17 46,839,515 (GRCm39) missense probably benign 0.34
R0401:Cul9 UTSW 17 46,852,630 (GRCm39) missense probably damaging 1.00
R0529:Cul9 UTSW 17 46,831,394 (GRCm39) splice site probably benign
R0815:Cul9 UTSW 17 46,848,748 (GRCm39) splice site probably null
R0863:Cul9 UTSW 17 46,848,748 (GRCm39) splice site probably null
R0972:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1173:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1216:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1217:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1261:Cul9 UTSW 17 46,836,708 (GRCm39) missense probably damaging 1.00
R1278:Cul9 UTSW 17 46,811,775 (GRCm39) small deletion probably benign
R1281:Cul9 UTSW 17 46,822,460 (GRCm39) missense probably damaging 1.00
R1349:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1372:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1403:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1403:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1405:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1405:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R1467:Cul9 UTSW 17 46,836,299 (GRCm39) missense probably damaging 1.00
R1467:Cul9 UTSW 17 46,836,299 (GRCm39) missense probably damaging 1.00
R1482:Cul9 UTSW 17 46,819,473 (GRCm39) missense probably damaging 0.99
R1491:Cul9 UTSW 17 46,849,490 (GRCm39) nonsense probably null
R1618:Cul9 UTSW 17 46,836,818 (GRCm39) missense probably benign 0.05
R1641:Cul9 UTSW 17 46,854,486 (GRCm39) missense possibly damaging 0.96
R1679:Cul9 UTSW 17 46,832,082 (GRCm39) missense possibly damaging 0.90
R1771:Cul9 UTSW 17 46,848,738 (GRCm39) missense probably benign 0.41
R1803:Cul9 UTSW 17 46,814,023 (GRCm39) missense probably damaging 1.00
R2020:Cul9 UTSW 17 46,833,101 (GRCm39) missense probably damaging 1.00
R2046:Cul9 UTSW 17 46,854,659 (GRCm39) missense probably damaging 1.00
R2056:Cul9 UTSW 17 46,854,298 (GRCm39) missense probably benign
R2088:Cul9 UTSW 17 46,837,575 (GRCm39) missense probably damaging 1.00
R2415:Cul9 UTSW 17 46,854,364 (GRCm39) missense probably benign
R2925:Cul9 UTSW 17 46,821,907 (GRCm39) missense probably benign 0.08
R2964:Cul9 UTSW 17 46,813,154 (GRCm39) missense probably damaging 0.96
R2965:Cul9 UTSW 17 46,813,154 (GRCm39) missense probably damaging 0.96
R3690:Cul9 UTSW 17 46,814,957 (GRCm39) splice site probably null
R3847:Cul9 UTSW 17 46,836,061 (GRCm39) missense probably damaging 1.00
R4437:Cul9 UTSW 17 46,813,085 (GRCm39) missense probably damaging 1.00
R4470:Cul9 UTSW 17 46,849,262 (GRCm39) missense probably benign 0.00
R4540:Cul9 UTSW 17 46,814,015 (GRCm39) missense probably null 0.98
R4555:Cul9 UTSW 17 46,812,755 (GRCm39) missense possibly damaging 0.82
R4604:Cul9 UTSW 17 46,841,072 (GRCm39) missense probably damaging 0.99
R4646:Cul9 UTSW 17 46,849,943 (GRCm39) nonsense probably null
R4799:Cul9 UTSW 17 46,811,770 (GRCm39) missense possibly damaging 0.79
R4822:Cul9 UTSW 17 46,840,977 (GRCm39) missense probably benign 0.01
R4964:Cul9 UTSW 17 46,849,451 (GRCm39) missense probably damaging 1.00
R4965:Cul9 UTSW 17 46,849,451 (GRCm39) missense probably damaging 1.00
R5027:Cul9 UTSW 17 46,811,708 (GRCm39) missense probably damaging 0.99
R5237:Cul9 UTSW 17 46,854,393 (GRCm39) missense probably benign 0.00
R5278:Cul9 UTSW 17 46,821,799 (GRCm39) missense probably damaging 1.00
R5361:Cul9 UTSW 17 46,811,775 (GRCm39) small deletion probably benign
R5455:Cul9 UTSW 17 46,821,772 (GRCm39) splice site probably null
R5592:Cul9 UTSW 17 46,831,517 (GRCm39) missense probably benign 0.00
R5597:Cul9 UTSW 17 46,813,591 (GRCm39) missense possibly damaging 0.56
R5613:Cul9 UTSW 17 46,814,770 (GRCm39) missense probably damaging 1.00
R6122:Cul9 UTSW 17 46,832,854 (GRCm39) missense possibly damaging 0.72
R6135:Cul9 UTSW 17 46,832,379 (GRCm39) missense probably benign
R6352:Cul9 UTSW 17 46,822,241 (GRCm39) missense probably benign 0.00
R6376:Cul9 UTSW 17 46,819,489 (GRCm39) missense probably damaging 1.00
R6868:Cul9 UTSW 17 46,833,109 (GRCm39) missense possibly damaging 0.73
R6898:Cul9 UTSW 17 46,821,952 (GRCm39) missense possibly damaging 0.87
R7090:Cul9 UTSW 17 46,811,765 (GRCm39) missense probably damaging 0.96
R7193:Cul9 UTSW 17 46,849,423 (GRCm39) missense probably damaging 0.98
R7221:Cul9 UTSW 17 46,839,491 (GRCm39) missense probably damaging 0.99
R7291:Cul9 UTSW 17 46,851,359 (GRCm39) missense probably benign 0.00
R7320:Cul9 UTSW 17 46,821,835 (GRCm39) missense possibly damaging 0.80
R7348:Cul9 UTSW 17 46,821,919 (GRCm39) missense possibly damaging 0.89
R7463:Cul9 UTSW 17 46,831,402 (GRCm39) splice site probably null
R7480:Cul9 UTSW 17 46,848,738 (GRCm39) missense probably benign 0.41
R7573:Cul9 UTSW 17 46,830,836 (GRCm39) missense probably benign
R7582:Cul9 UTSW 17 46,821,905 (GRCm39) missense probably damaging 1.00
R7605:Cul9 UTSW 17 46,852,658 (GRCm39) missense probably damaging 0.99
R7684:Cul9 UTSW 17 46,820,815 (GRCm39) missense probably damaging 1.00
R7830:Cul9 UTSW 17 46,851,237 (GRCm39) missense probably benign 0.37
R7834:Cul9 UTSW 17 46,836,630 (GRCm39) splice site probably null
R8131:Cul9 UTSW 17 46,822,168 (GRCm39) missense probably damaging 1.00
R8192:Cul9 UTSW 17 46,849,273 (GRCm39) missense probably benign 0.01
R8231:Cul9 UTSW 17 46,831,427 (GRCm39) missense probably damaging 0.99
R8248:Cul9 UTSW 17 46,840,940 (GRCm39) missense probably damaging 0.99
R8504:Cul9 UTSW 17 46,814,506 (GRCm39) missense probably damaging 1.00
R8550:Cul9 UTSW 17 46,830,772 (GRCm39) missense probably damaging 1.00
R8716:Cul9 UTSW 17 46,838,840 (GRCm39) missense probably benign 0.28
R8769:Cul9 UTSW 17 46,832,828 (GRCm39) missense possibly damaging 0.85
R8893:Cul9 UTSW 17 46,811,775 (GRCm39) small deletion probably benign
R8904:Cul9 UTSW 17 46,831,427 (GRCm39) missense probably damaging 0.99
R8936:Cul9 UTSW 17 46,839,528 (GRCm39) missense possibly damaging 0.82
R8972:Cul9 UTSW 17 46,854,177 (GRCm39) missense probably damaging 1.00
R9003:Cul9 UTSW 17 46,836,001 (GRCm39) missense possibly damaging 0.78
R9012:Cul9 UTSW 17 46,854,447 (GRCm39) missense probably benign
R9056:Cul9 UTSW 17 46,854,696 (GRCm39) missense probably damaging 0.99
R9071:Cul9 UTSW 17 46,837,379 (GRCm39) missense probably benign
R9162:Cul9 UTSW 17 46,837,529 (GRCm39) missense probably benign 0.32
R9476:Cul9 UTSW 17 46,821,833 (GRCm39) missense probably damaging 1.00
R9526:Cul9 UTSW 17 46,841,026 (GRCm39) missense probably benign 0.41
R9563:Cul9 UTSW 17 46,820,897 (GRCm39) missense probably benign 0.01
R9568:Cul9 UTSW 17 46,831,044 (GRCm39) missense possibly damaging 0.56
R9610:Cul9 UTSW 17 46,830,823 (GRCm39) missense possibly damaging 0.96
R9611:Cul9 UTSW 17 46,830,823 (GRCm39) missense possibly damaging 0.96
R9705:Cul9 UTSW 17 46,854,226 (GRCm39) missense probably damaging 1.00
R9765:Cul9 UTSW 17 46,850,224 (GRCm39) missense probably benign 0.18
RF011:Cul9 UTSW 17 46,811,774 (GRCm39) small insertion probably benign
RF016:Cul9 UTSW 17 46,811,789 (GRCm39) nonsense probably null
RF026:Cul9 UTSW 17 46,811,795 (GRCm39) nonsense probably null
RF027:Cul9 UTSW 17 46,811,774 (GRCm39) small insertion probably benign
RF030:Cul9 UTSW 17 46,811,795 (GRCm39) small insertion probably benign
RF033:Cul9 UTSW 17 46,811,780 (GRCm39) small insertion probably benign
RF039:Cul9 UTSW 17 46,811,780 (GRCm39) small insertion probably benign
RF041:Cul9 UTSW 17 46,811,780 (GRCm39) nonsense probably null
RF042:Cul9 UTSW 17 46,851,541 (GRCm39) frame shift probably null
RF057:Cul9 UTSW 17 46,811,789 (GRCm39) nonsense probably null
Z1176:Cul9 UTSW 17 46,831,511 (GRCm39) nonsense probably null
Z1176:Cul9 UTSW 17 46,831,502 (GRCm39) nonsense probably null
Z1177:Cul9 UTSW 17 46,848,723 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- ACAGGAGCCCAGATTTGCTG -3'
(R):5'- TCTTCCTTCAGTGGACCCAG -3'

Sequencing Primer
(F):5'- ACTGCTGCCACATGGGATC -3'
(R):5'- TTCAGTGGACCCAGCCCTC -3'
Posted On 2016-07-06