Incidental Mutation 'IGL02639:Cul5'
ID301657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cul5
Ensembl Gene ENSMUSG00000032030
Gene Namecullin 5
SynonymsVACM-1, C030032G03Rik, C330021I08Rik, 8430423K24Rik, 4921514I20Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02639
Quality Score
Status
Chromosome9
Chromosomal Location53614582-53670014 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53655342 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 130 (D130G)
Ref Sequence ENSEMBL: ENSMUSP00000133144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034529] [ENSMUST00000120122] [ENSMUST00000166367]
Predicted Effect probably benign
Transcript: ENSMUST00000034529
AA Change: D130G

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: D130G

DomainStartEndE-ValueType
PDB:2WZK|A 76 461 N/A PDB
SCOP:d1ldja2 91 459 1e-109 SMART
CULLIN 510 661 1.12e-80 SMART
Cullin_Nedd8 782 849 5.12e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120122
SMART Domains Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030

DomainStartEndE-ValueType
PDB:4JGH|D 1 258 N/A PDB
SCOP:d1ldja2 5 255 2e-75 SMART
CULLIN 306 457 1.12e-80 SMART
Cullin_Nedd8 578 645 5.12e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123499
Predicted Effect probably benign
Transcript: ENSMUST00000133872
SMART Domains Protein: ENSMUSP00000121734
Gene: ENSMUSG00000032030

DomainStartEndE-ValueType
PDB:2WZK|A 5 49 4e-25 PDB
SCOP:d1ldja2 20 49 1e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137922
Predicted Effect possibly damaging
Transcript: ENSMUST00000166367
AA Change: D130G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: D130G

DomainStartEndE-ValueType
PDB:2WZK|A 76 434 N/A PDB
SCOP:d1ldja2 91 432 9e-99 SMART
CULLIN 483 634 1.12e-80 SMART
Cullin_Nedd8 755 822 5.12e-17 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit complete embryonic lethality. Mice heterozygous for a null allele exhibit decreased susceptibility to LPS-induced lung injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C T 15: 37,429,804 R71* probably null Het
Abca5 A T 11: 110,288,073 I1140N possibly damaging Het
Atp6v0a1 T A 11: 101,055,518 I773N possibly damaging Het
Atp9a A G 2: 168,649,620 M675T probably damaging Het
Baz1a A G 12: 54,896,025 probably benign Het
Cd5l T C 3: 87,368,506 V261A probably damaging Het
Copb1 A G 7: 114,226,595 probably benign Het
Cyp2j5 T A 4: 96,658,749 Q176L probably benign Het
D430042O09Rik A G 7: 125,872,792 I1518V probably damaging Het
Ddo A G 10: 40,647,737 D241G probably damaging Het
Defa29 A G 8: 21,326,121 C77R possibly damaging Het
Dpp4 T C 2: 62,352,240 N566D probably benign Het
Emilin2 T C 17: 71,274,549 D394G probably benign Het
Fbf1 T C 11: 116,152,600 E461G probably benign Het
Fgfr2 A G 7: 130,228,802 probably benign Het
Fibcd1 G A 2: 31,817,150 T365M probably damaging Het
Fndc3a A C 14: 72,574,357 H344Q probably benign Het
Fnip1 T A 11: 54,475,640 C52* probably null Het
Fto T A 8: 91,409,528 N143K probably damaging Het
Gm2035 G T 12: 87,919,499 T120K probably benign Het
Hells G T 19: 38,938,429 L84F probably damaging Het
Hydin G A 8: 110,538,449 V2755I probably benign Het
Irgq C A 7: 24,531,462 A26E probably damaging Het
Klhl29 A T 12: 5,137,453 Y304N probably damaging Het
Muc6 T C 7: 141,649,578 probably benign Het
Myo15 T C 11: 60,478,621 F736L probably benign Het
Nynrin G T 14: 55,870,655 W1073L probably damaging Het
Olfr116 A T 17: 37,623,987 I216N probably benign Het
Olfr1490 A T 19: 13,654,596 T51S possibly damaging Het
Olfr310 A T 7: 86,269,720 I23N probably damaging Het
Olfr389 A T 11: 73,776,545 C261S probably benign Het
Olfr63 G A 17: 33,269,395 V224M possibly damaging Het
Olfr642 C A 7: 104,049,781 C191F probably damaging Het
Olfr675 T A 7: 105,024,222 I253F probably damaging Het
Pdzd2 T A 15: 12,592,243 K105M probably damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pola2 A G 19: 5,953,774 V191A probably benign Het
Slc22a8 A T 19: 8,593,959 Y18F probably benign Het
Slc26a5 C T 5: 21,819,767 V440M probably damaging Het
Other mutations in Cul5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Cul5 APN 9 53635007 missense probably damaging 1.00
IGL02043:Cul5 APN 9 53658673 missense probably benign 0.26
IGL02145:Cul5 APN 9 53635075 splice site probably benign
IGL02261:Cul5 APN 9 53635037 missense probably damaging 1.00
IGL02281:Cul5 APN 9 53635049 missense possibly damaging 0.87
IGL02697:Cul5 APN 9 53655331 missense probably benign
IGL02752:Cul5 APN 9 53634978 missense probably damaging 0.98
IGL03017:Cul5 APN 9 53644485 critical splice donor site probably null
IGL03031:Cul5 APN 9 53642675 splice site probably benign
IGL03196:Cul5 APN 9 53625880 missense probably damaging 0.99
R0142:Cul5 UTSW 9 53635050 missense probably damaging 0.98
R0415:Cul5 UTSW 9 53667070 missense probably benign 0.00
R1619:Cul5 UTSW 9 53658593 missense probably benign 0.00
R1675:Cul5 UTSW 9 53646683 missense probably benign 0.00
R2031:Cul5 UTSW 9 53667180 missense probably benign
R2059:Cul5 UTSW 9 53667156 missense probably damaging 0.98
R3401:Cul5 UTSW 9 53621212 missense probably benign 0.02
R3427:Cul5 UTSW 9 53617890 missense probably benign
R3701:Cul5 UTSW 9 53629216 missense probably damaging 0.99
R3702:Cul5 UTSW 9 53629216 missense probably damaging 0.99
R3815:Cul5 UTSW 9 53622943 missense probably benign 0.31
R3848:Cul5 UTSW 9 53617986 missense probably benign 0.34
R3849:Cul5 UTSW 9 53617986 missense probably benign 0.34
R3850:Cul5 UTSW 9 53617986 missense probably benign 0.34
R4592:Cul5 UTSW 9 53633727 splice site probably benign
R4690:Cul5 UTSW 9 53622871 missense probably damaging 1.00
R5154:Cul5 UTSW 9 53625867 missense probably damaging 1.00
R5173:Cul5 UTSW 9 53642734 missense probably benign
R5645:Cul5 UTSW 9 53622943 missense probably benign 0.17
R5868:Cul5 UTSW 9 53658673 missense probably benign 0.26
R5975:Cul5 UTSW 9 53622793 missense probably damaging 1.00
R6251:Cul5 UTSW 9 53646794 missense probably benign 0.40
R6284:Cul5 UTSW 9 53623735 missense probably damaging 1.00
R6415:Cul5 UTSW 9 53646683 missense probably benign 0.00
R7178:Cul5 UTSW 9 53644526 missense probably benign 0.01
R7511:Cul5 UTSW 9 53625969 missense probably damaging 1.00
X0018:Cul5 UTSW 9 53622929 missense probably damaging 1.00
Posted On2015-04-16