Incidental Mutation 'R0143:Cul9'
ID 22471
Institutional Source Beutler Lab
Gene Symbol Cul9
Ensembl Gene ENSMUSG00000040327
Gene Name cullin 9
Synonyms Parc, 1810035I07Rik
MMRRC Submission 038428-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R0143 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 17
Chromosomal Location 46811535-46857314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46837336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1044 (N1044S)
Ref Sequence ENSEMBL: ENSMUSP00000138418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066026] [ENSMUST00000182485]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000066026
AA Change: N1044S

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000067736
Gene: ENSMUSG00000040327
AA Change: N1044S

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: N1044S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138418
Gene: ENSMUSG00000040327
AA Change: N1044S

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 0.0591 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (76/78)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,988,288 (GRCm39) I145N probably benign Het
Ankrd1 G A 19: 36,096,713 (GRCm39) A38V probably benign Het
Ankrd34b A G 13: 92,576,268 (GRCm39) E500G probably damaging Het
Arhgef12 T C 9: 42,916,890 (GRCm39) T419A probably damaging Het
B3galt2 A T 1: 143,523,072 (GRCm39) N403Y possibly damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
C4b G A 17: 34,953,193 (GRCm39) probably benign Het
Cacna1e A T 1: 154,324,693 (GRCm39) probably null Het
Cdh3 T C 8: 107,237,857 (GRCm39) V17A probably benign Het
Cog7 A T 7: 121,550,387 (GRCm39) L379Q probably damaging Het
Cyp4b1 C T 4: 115,493,071 (GRCm39) D258N probably damaging Het
Ddx39a T C 8: 84,447,179 (GRCm39) V113A probably benign Het
Dennd4b A T 3: 90,179,671 (GRCm39) H643L probably damaging Het
Dpy19l3 T C 7: 35,413,640 (GRCm39) T334A probably benign Het
Dsg3 T C 18: 20,669,882 (GRCm39) L632S probably damaging Het
Dtx4 G A 19: 12,463,846 (GRCm39) T312I probably damaging Het
Dusp18 C T 11: 3,847,243 (GRCm39) R78C probably benign Het
Fes A C 7: 80,033,643 (GRCm39) F203V probably benign Het
Fhad1 C A 4: 141,656,957 (GRCm39) probably benign Het
Gjb2 T C 14: 57,337,526 (GRCm39) silent Het
Gm5828 T C 1: 16,838,579 (GRCm39) noncoding transcript Het
Gsdma A C 11: 98,557,080 (GRCm39) E65A probably damaging Het
Hck T A 2: 152,976,140 (GRCm39) probably null Het
Henmt1 A T 3: 108,861,118 (GRCm39) H47L probably damaging Het
Hivep2 T C 10: 14,005,099 (GRCm39) F566L probably damaging Het
Hnrnpl T C 7: 28,513,617 (GRCm39) probably benign Het
Igsf3 T C 3: 101,342,917 (GRCm39) I518T probably damaging Het
Ireb2 T C 9: 54,793,193 (GRCm39) F223L probably benign Het
Isoc2a T C 7: 4,894,331 (GRCm39) probably null Het
Krt73 T A 15: 101,709,208 (GRCm39) R200W probably damaging Het
Lgals9 T A 11: 78,854,361 (GRCm39) I308F probably damaging Het
Lrp1 A G 10: 127,429,811 (GRCm39) F420L probably damaging Het
Mep1b T C 18: 21,228,164 (GRCm39) probably benign Het
Mex3a G T 3: 88,443,562 (GRCm39) A213S probably benign Het
Mmp13 T C 9: 7,276,558 (GRCm39) F218L probably damaging Het
Ncf1 G T 5: 134,255,991 (GRCm39) probably benign Het
Notch2 A G 3: 98,053,433 (GRCm39) D2032G probably damaging Het
Or10h28 T C 17: 33,488,471 (GRCm39) S258P probably damaging Het
Or5p1 A G 7: 107,916,202 (GRCm39) I34V probably benign Het
Or9i1b A C 19: 13,896,614 (GRCm39) I77L probably damaging Het
Pex16 G A 2: 92,210,802 (GRCm39) G312D probably damaging Het
Pex5 A T 6: 124,375,448 (GRCm39) W525R probably damaging Het
Plcb4 T A 2: 135,818,131 (GRCm39) I799N probably damaging Het
Poldip3 G A 15: 83,012,144 (GRCm39) L372F probably damaging Het
Polg2 C A 11: 106,668,352 (GRCm39) V174L probably benign Het
Prrt4 C G 6: 29,170,670 (GRCm39) G594A probably damaging Het
Prss1 A G 6: 41,440,522 (GRCm39) D199G probably damaging Het
Rbms2 T A 10: 127,973,823 (GRCm39) Q207L probably benign Het
Retreg2 A G 1: 75,123,074 (GRCm39) D334G possibly damaging Het
Slc6a15 T G 10: 103,253,929 (GRCm39) C622G probably benign Het
Spdya T A 17: 71,865,635 (GRCm39) D84E probably damaging Het
Stat3 A T 11: 100,785,982 (GRCm39) S432T possibly damaging Het
Tiam1 A T 16: 89,695,088 (GRCm39) V123E probably benign Het
Tnpo3 A G 6: 29,565,651 (GRCm39) probably benign Het
Tnrc6c A C 11: 117,643,811 (GRCm39) N1481H probably damaging Het
Top3b T C 16: 16,701,389 (GRCm39) S234P probably damaging Het
Tor1aip2 A T 1: 155,935,294 (GRCm39) T10S probably benign Het
Tpsab1 T A 17: 25,562,418 (GRCm39) H303L probably benign Het
Traf3 T A 12: 111,228,010 (GRCm39) V407D probably damaging Het
Trim33 T A 3: 103,259,417 (GRCm39) D1035E probably benign Het
Ttc38 T C 15: 85,737,920 (GRCm39) V402A possibly damaging Het
Ube4b C T 4: 149,439,914 (GRCm39) R646H possibly damaging Het
Usp8 C A 2: 126,597,009 (GRCm39) probably benign Het
Zdbf2 A T 1: 63,347,233 (GRCm39) I1871F probably benign Het
Zfp345 T A 2: 150,314,475 (GRCm39) Q354L probably benign Het
Zfp462 C A 4: 55,023,402 (GRCm39) probably benign Het
Zfp81 G A 17: 33,554,095 (GRCm39) H240Y possibly damaging Het
Zfp830 A G 11: 82,655,994 (GRCm39) D266G 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
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
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'- AGGCTTCTTCCTGCCAAGATCAAAC -3'
(R):5'- AACAGAACTCTGCTGCTCACGATAC -3'

Sequencing Primer
(F):5'- TGATGTACAAACCCTGGCTCG -3'
(R):5'- CGATACTCAGGTAAAGAGTCTGTCC -3'
Posted On 2013-04-16