Incidental Mutation 'R8248:Cul9'
ID 640401
Institutional Source Beutler Lab
Gene Symbol Cul9
Ensembl Gene ENSMUSG00000040327
Gene Name cullin 9
Synonyms Parc, 1810035I07Rik
MMRRC Submission 067675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R8248 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 46811535-46857314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 46840940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 777 (Y777D)
Ref Sequence ENSEMBL: ENSMUSP00000138418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066026] [ENSMUST00000182485]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000066026
AA Change: Y777D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067736
Gene: ENSMUSG00000040327
AA Change: Y777D

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 probably damaging
Transcript: ENSMUST00000182485
AA Change: Y777D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138418
Gene: ENSMUSG00000040327
AA Change: Y777D

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
Meta Mutation Damage Score 0.0875 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (60/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,702,556 (GRCm39) D24G noncoding transcript Het
Adam32 A G 8: 25,391,486 (GRCm39) S343P possibly damaging Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Ahi1 T A 10: 20,847,991 (GRCm39) D466E probably benign Het
Ahnak T A 19: 8,979,310 (GRCm39) V198E probably damaging Het
Ank2 T A 3: 126,731,434 (GRCm39) H658L possibly damaging Het
Atp8b5 T A 4: 43,366,072 (GRCm39) I781N probably damaging Het
Bloc1s6 A T 2: 122,584,565 (GRCm39) R47* probably null Het
Clk2 G A 3: 89,080,811 (GRCm39) V266M probably damaging Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Dcp1a C T 14: 30,201,555 (GRCm39) probably benign Het
Dnajb2 T G 1: 75,220,226 (GRCm39) D248E Het
Dpy19l1 T C 9: 24,414,191 (GRCm39) H79R probably benign Het
Elmo1 T C 13: 20,784,371 (GRCm39) S643P probably damaging Het
Evi5 A G 5: 107,966,753 (GRCm39) probably null Het
Fam76b T C 9: 13,742,398 (GRCm39) C110R probably damaging Het
Galnt7 T A 8: 57,991,222 (GRCm39) K429N probably benign Het
Gm10142 T A 10: 77,551,950 (GRCm39) C104S probably damaging Het
Gm7298 A C 6: 121,764,402 (GRCm39) H1427P probably benign Het
Golga7b A T 19: 42,255,310 (GRCm39) I87F probably damaging Het
Gpr165 C A X: 95,757,623 (GRCm39) D7E probably benign Het
Gpr25 C A 1: 136,188,415 (GRCm39) R66L probably benign Het
H2-Q2 A G 17: 35,563,841 (GRCm39) N241D probably benign Het
Il1a T C 2: 129,144,881 (GRCm39) D179G probably benign Het
Itch T C 2: 155,048,303 (GRCm39) probably null Het
Itsn2 T C 12: 4,712,052 (GRCm39) V913A probably benign Het
Kdm1b T A 13: 47,225,354 (GRCm39) probably benign Het
Lama4 T C 10: 38,937,375 (GRCm39) I655T possibly damaging Het
Lats1 T A 10: 7,581,667 (GRCm39) S817R probably damaging Het
Lrrc8c A T 5: 105,755,733 (GRCm39) M503L probably benign Het
Mast4 T C 13: 102,875,229 (GRCm39) T1380A probably damaging Het
Mfap1a G T 2: 121,336,976 (GRCm39) T16K possibly damaging Het
Mroh2b C T 15: 4,960,586 (GRCm39) T773I probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nudt7 A G 8: 114,878,737 (GRCm39) Y255C probably benign Het
Pfas T C 11: 68,891,089 (GRCm39) T310A probably damaging Het
Pkhd1l1 T G 15: 44,406,942 (GRCm39) I2393R probably damaging Het
Pmm1 A C 15: 81,844,932 (GRCm39) L24R possibly damaging Het
Pram1 T C 17: 33,860,138 (GRCm39) V235A probably benign Het
Prg4 T C 1: 150,330,877 (GRCm39) T599A unknown Het
Prpf40b A G 15: 99,214,166 (GRCm39) K812E unknown Het
Qars1 G A 9: 108,386,651 (GRCm39) A155T probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgs6 A G 12: 83,184,478 (GRCm39) probably benign Het
Rom1 T A 19: 8,906,045 (GRCm39) R165W probably damaging Het
Rps6kb2 T A 19: 4,206,987 (GRCm39) probably benign Het
Ryr1 A T 7: 28,768,546 (GRCm39) W2808R probably damaging Het
Sh3gl1 A G 17: 56,326,038 (GRCm39) probably null Het
Slc22a30 A T 19: 8,347,563 (GRCm39) M279K probably benign Het
Snx11 A G 11: 96,660,759 (GRCm39) S184P unknown Het
Srgap1 A G 10: 121,640,722 (GRCm39) C692R probably damaging Het
Srgap3 T C 6: 112,700,104 (GRCm39) N982S probably damaging Het
Stac T A 9: 111,422,813 (GRCm39) D270V probably benign Het
Syn3 T A 10: 85,970,885 (GRCm39) I246F probably benign Het
Tnr T C 1: 159,719,663 (GRCm39) V980A probably damaging Het
Usp17le G T 7: 104,419,001 (GRCm39) A47E possibly damaging Het
Vmn2r118 T C 17: 55,917,936 (GRCm39) N192S probably benign Het
Zmym4 C A 4: 126,799,162 (GRCm39) V725L possibly damaging 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
R5185:Cul9 UTSW 17 46,836,758 (GRCm39) missense possibly damaging 0.95
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
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'- ACCCATTGCTTGGTCTGAATCAG -3'
(R):5'- ACTGAGTCTTGATGGACGGAG -3'

Sequencing Primer
(F):5'- GTCTGAATCAGTACAGGAGCCCTTC -3'
(R):5'- TTAGGAAGGGACTCCGCTG -3'
Posted On 2020-07-28