Incidental Mutation 'R8231:Cul9'
ID 637163
Institutional Source Beutler Lab
Gene Symbol Cul9
Ensembl Gene ENSMUSG00000040327
Gene Name cullin 9
Synonyms Parc, 1810035I07Rik
MMRRC Submission 067663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R8231 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 46811535-46857314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46831427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1596 (T1596A)
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: T1596A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067736
Gene: ENSMUSG00000040327
AA Change: T1596A

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: T1596A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138418
Gene: ENSMUSG00000040327
AA Change: T1596A

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 0.1325 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C T 17: 85,000,213 (GRCm39) R258C probably damaging Het
Acsf2 C G 11: 94,452,188 (GRCm39) E451D probably benign Het
Adam34 A T 8: 44,104,659 (GRCm39) S329T probably benign Het
Adamts16 A G 13: 70,925,599 (GRCm39) I535T probably damaging Het
Atp6v0d2 A G 4: 19,881,451 (GRCm39) F214S probably damaging Het
Btg4 A G 9: 51,027,868 (GRCm39) T13A possibly damaging Het
Ccdc121 T A 5: 31,643,551 (GRCm39) C94S probably benign Het
Cplane1 T C 15: 8,248,511 (GRCm39) Y1687H probably benign Het
Csmd1 A T 8: 16,747,939 (GRCm39) S271T possibly damaging Het
Cyp2a4 G A 7: 26,012,362 (GRCm39) D382N probably benign Het
Dbh C T 2: 27,060,555 (GRCm39) R244C probably benign Het
Dennd11 A T 6: 40,395,546 (GRCm39) H187Q probably benign Het
Dnajc2 T C 5: 21,966,689 (GRCm39) K426R probably benign Het
Dock4 T A 12: 40,752,950 (GRCm39) M428K possibly damaging Het
Duox2 A T 2: 122,120,044 (GRCm39) M822K possibly damaging Het
Golga5 T C 12: 102,438,558 (GRCm39) V91A probably benign Het
Gpatch2l T C 12: 86,290,963 (GRCm39) S49P probably damaging Het
Ints7 T A 1: 191,328,465 (GRCm39) L246* probably null Het
Kntc1 A G 5: 123,920,959 (GRCm39) T926A possibly damaging Het
Kyat1 T C 2: 30,081,978 (GRCm39) T54A probably benign Het
Megf6 C G 4: 154,336,975 (GRCm39) C359W probably damaging Het
Mlh3 A G 12: 85,307,572 (GRCm39) probably null Het
Neb C A 2: 52,125,491 (GRCm39) probably null Het
Nyap2 A T 1: 81,169,846 (GRCm39) Q201L probably benign Het
Pibf1 T G 14: 99,423,997 (GRCm39) H523Q probably benign Het
Piezo1 A G 8: 123,232,836 (GRCm39) S133P Het
Pnma8b T C 7: 16,680,515 (GRCm39) C500R probably benign Het
Ptpra A G 2: 130,379,523 (GRCm39) N359S probably damaging Het
Rce1 A T 19: 4,675,078 (GRCm39) I112N probably damaging Het
Rmdn1 T C 4: 19,586,853 (GRCm39) Y104H probably benign Het
Snx22 A T 9: 65,975,480 (GRCm39) D96E probably benign Het
Sox5 G T 6: 143,974,014 (GRCm39) Q245K probably damaging Het
Stat6 A G 10: 127,482,842 (GRCm39) D21G possibly damaging Het
Tbc1d15 T C 10: 115,065,045 (GRCm39) Y180C probably damaging Het
Tdrd6 T C 17: 43,933,026 (GRCm39) T2058A probably damaging Het
Thbs4 A T 13: 92,911,352 (GRCm39) V277E probably benign Het
Tmem255b A G 8: 13,504,225 (GRCm39) D139G probably damaging Het
Ttc27 C A 17: 75,024,959 (GRCm39) T18K probably benign Het
Zfp131 A G 13: 120,237,348 (GRCm39) F337L probably 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
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'- TCAGCCATGTAATGCCTGCAG -3'
(R):5'- ACGCTGCTTGTCTGAATCC -3'

Sequencing Primer
(F):5'- CTCCTCCTAAAGGTGAGTCTGTG -3'
(R):5'- CCATTCCGTTGTCCCCAGATAAG -3'
Posted On 2020-07-13