Incidental Mutation 'IGL01152:Cul4b'
ID53369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cul4b
Ensembl Gene ENSMUSG00000031095
Gene Namecullin 4B
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01152
Quality Score
Status
ChromosomeX
Chromosomal Location38533274-38576196 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38543370 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 709 (M709V)
Ref Sequence ENSEMBL: ENSMUSP00000110771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016681] [ENSMUST00000050083] [ENSMUST00000115118] [ENSMUST00000147129]
Predicted Effect possibly damaging
Transcript: ENSMUST00000016681
AA Change: M635V

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000016681
Gene: ENSMUSG00000031095
AA Change: M635V

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
low complexity region 43 53 N/A INTRINSIC
low complexity region 60 68 N/A INTRINSIC
low complexity region 118 139 N/A INTRINSIC
SCOP:d1ldja2 197 538 1e-119 SMART
CULLIN 571 719 2.66e-73 SMART
Blast:CULLIN 722 776 4e-22 BLAST
Cullin_Nedd8 825 890 1.39e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000050083
AA Change: M709V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059276
Gene: ENSMUSG00000031095
AA Change: M709V

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
low complexity region 29 63 N/A INTRINSIC
low complexity region 78 98 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
low complexity region 134 142 N/A INTRINSIC
low complexity region 192 213 N/A INTRINSIC
SCOP:d1ldja2 271 612 1e-121 SMART
CULLIN 645 793 2.66e-73 SMART
Blast:CULLIN 796 850 3e-22 BLAST
Cullin_Nedd8 899 964 1.39e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115118
AA Change: M709V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110771
Gene: ENSMUSG00000031095
AA Change: M709V

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
low complexity region 29 63 N/A INTRINSIC
low complexity region 78 98 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
low complexity region 134 142 N/A INTRINSIC
low complexity region 192 213 N/A INTRINSIC
SCOP:d1ldja2 271 612 1e-121 SMART
CULLIN 645 793 2.66e-73 SMART
Blast:CULLIN 796 850 3e-22 BLAST
Cullin_Nedd8 899 964 1.39e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147129
SMART Domains Protein: ENSMUSP00000136083
Gene: ENSMUSG00000031095

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
low complexity region 43 53 N/A INTRINSIC
low complexity region 60 68 N/A INTRINSIC
low complexity region 118 139 N/A INTRINSIC
Pfam:Cullin 200 548 2.4e-82 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in the brain exhibit impaired spatial learning and memory, increased susceptibility to PTZ-induced seizures, abnormal dendrite morphology on hippocampal neurons. Mice homozygous for a null allele exhibitembryonic lethality and abnormal placenta. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A T 9: 22,435,164 H356L probably benign Het
A730013G03Rik T G 1: 192,833,639 noncoding transcript Het
Abcb4 G A 5: 8,950,678 V1031M probably benign Het
Abcc4 A G 14: 118,599,385 S655P probably damaging Het
Actn1 T C 12: 80,199,046 K121R probably damaging Het
Aldh1l2 T A 10: 83,522,886 R82* probably null Het
Arhgap31 T A 16: 38,602,239 H1155L possibly damaging Het
Atp8a1 G T 5: 67,847,206 P2Q probably damaging Het
Bcs1l A G 1: 74,592,015 M401V possibly damaging Het
Brca2 A T 5: 150,542,390 N1873I probably damaging Het
Cenpj T C 14: 56,552,300 N764S probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clk1 A T 1: 58,413,452 C359S possibly damaging Het
Clk2 T A 3: 89,176,511 F479I probably damaging Het
D130052B06Rik G T 11: 33,623,620 probably null Het
Dgkb T A 12: 38,084,234 N46K probably damaging Het
Dnah9 C T 11: 66,072,056 R1811H probably damaging Het
Dnajc18 T C 18: 35,680,873 N281S probably benign Het
Galnt5 A T 2: 58,025,393 I654L probably benign Het
Gm9989 T G 3: 81,922,211 noncoding transcript Het
Gpr179 T C 11: 97,337,411 E1306G probably benign Het
Gsc C A 12: 104,471,605 K219N probably damaging Het
Gsx2 A T 5: 75,075,791 I11F probably damaging Het
Igdcc4 A C 9: 65,135,164 E121A probably damaging Het
Lama2 C T 10: 27,208,429 R915H probably benign Het
Large2 A G 2: 92,370,639 L64P probably damaging Het
Lztr1 C A 16: 17,522,453 Q136K probably damaging Het
Mageb18 A G X: 92,119,824 W271R possibly damaging Het
Magoh A C 4: 107,885,006 probably benign Het
Mrgprx1 T C 7: 48,021,486 H171R probably benign Het
Muc1 C A 3: 89,230,754 T301K probably benign Het
Nbas C T 12: 13,360,958 L868F probably damaging Het
Nwd2 A G 5: 63,806,529 D1152G possibly damaging Het
Olfr493 C T 7: 108,346,949 A11T probably benign Het
Olfr77 G A 9: 19,920,949 V247M possibly damaging Het
Ovgp1 T A 3: 105,986,172 D420E possibly damaging Het
Pacsin3 A G 2: 91,263,776 D350G probably benign Het
Pcolce2 A T 9: 95,692,923 N309Y probably damaging Het
Pim2 C A X: 7,878,422 probably benign Het
Plcb1 A G 2: 134,813,659 Y53C probably damaging Het
Pogk T C 1: 166,408,478 E18G probably damaging Het
Pxdn T A 12: 30,001,937 D704E probably damaging Het
Rb1 C A 14: 73,205,870 S781I probably damaging Het
Rnpepl1 A G 1: 92,915,899 H247R possibly damaging Het
Scube1 A T 15: 83,613,570 F697I probably damaging Het
Sel1l3 G T 5: 53,116,333 H1064N probably damaging Het
Serinc3 A G 2: 163,636,911 Y99H probably damaging Het
Slc36a2 T A 11: 55,169,847 probably benign Het
Smarcc1 A C 9: 110,139,625 E130A possibly damaging Het
Strc A G 2: 121,370,795 M1273T probably benign Het
Tmem116 A G 5: 121,463,799 I21V probably benign Het
Tmem190 T C 7: 4,784,026 probably benign Het
Trim63 C T 4: 134,325,676 A316V probably benign Het
Ugt2b34 T C 5: 86,901,203 E321G probably damaging Het
Zfat T A 15: 68,110,504 R1053S probably damaging Het
Other mutations in Cul4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1420:Cul4b UTSW X 38565041 splice site probably null
R1791:Cul4b UTSW X 38547851 missense probably damaging 1.00
Posted On2013-06-21