Incidental Mutation 'R0735:Cul7'
ID 225998
Institutional Source Beutler Lab
Gene Symbol Cul7
Ensembl Gene ENSMUSG00000038545
Gene Name cullin 7
Synonyms p185, p193, C230011P08Rik, 2510004L20Rik
MMRRC Submission 038916-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0735 (G1)
Quality Score 77
Status Validated
Chromosome 17
Chromosomal Location 46961264-46975290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46974116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 1467 (L1467H)
Ref Sequence ENSEMBL: ENSMUSP00000049128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024766] [ENSMUST00000043464] [ENSMUST00000133393] [ENSMUST00000145567]
AlphaFold Q8VE73
Predicted Effect probably benign
Transcript: ENSMUST00000024766
SMART Domains Protein: ENSMUSP00000024766
Gene: ENSMUSG00000023971

DomainStartEndE-ValueType
Pfam:DUF947 55 219 7.6e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000043464
AA Change: L1467H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: L1467H

DomainStartEndE-ValueType
low complexity region 46 54 N/A INTRINSIC
low complexity region 218 229 N/A INTRINSIC
low complexity region 315 324 N/A INTRINSIC
Pfam:Cul7 349 423 5.7e-34 PFAM
low complexity region 462 476 N/A INTRINSIC
low complexity region 603 618 N/A INTRINSIC
low complexity region 635 648 N/A INTRINSIC
APC10 811 973 9.35e-49 SMART
low complexity region 983 993 N/A INTRINSIC
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1301 1318 N/A INTRINSIC
low complexity region 1335 1370 N/A INTRINSIC
Blast:Cullin_Nedd8 1550 1633 1e-41 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125949
Predicted Effect probably benign
Transcript: ENSMUST00000133393
SMART Domains Protein: ENSMUSP00000119393
Gene: ENSMUSG00000038545

DomainStartEndE-ValueType
low complexity region 17 26 N/A INTRINSIC
Pfam:Cul7 51 126 8e-34 PFAM
low complexity region 164 178 N/A INTRINSIC
low complexity region 305 320 N/A INTRINSIC
low complexity region 337 350 N/A INTRINSIC
SCOP:d1gqpa_ 487 568 1e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145567
SMART Domains Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545

DomainStartEndE-ValueType
low complexity region 46 54 N/A INTRINSIC
SCOP:d1jdha_ 63 222 2e-4 SMART
low complexity region 315 324 N/A INTRINSIC
Pfam:Cul7 349 424 9.5e-34 PFAM
low complexity region 462 476 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Meta Mutation Damage Score 0.4846 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.7%
  • 20x: 91.8%
Validation Efficiency 95% (73/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: During late gestation, homozygous null fetuses display reduced growth associated with abnormal placental development and hemorrhaging due to vascular defects. Mutant mice are born but die shortly after birth, succumbing to respiratory distress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T A 14: 29,711,669 (GRCm39) M405K probably benign Het
Adam10 G A 9: 70,655,533 (GRCm39) V334I possibly damaging Het
Adgra2 G T 8: 27,607,346 (GRCm39) G686C probably damaging Het
Akap11 A T 14: 78,747,518 (GRCm39) I1623N probably damaging Het
Astn1 A T 1: 158,299,959 (GRCm39) T100S possibly damaging Het
B3galt1 A C 2: 67,948,923 (GRCm39) I213L possibly damaging Het
B4galnt4 A G 7: 140,644,236 (GRCm39) K101E probably benign Het
Brd10 A T 19: 29,695,038 (GRCm39) I1552K possibly damaging Het
Camsap2 A G 1: 136,220,626 (GRCm39) S324P probably damaging Het
Chrnb4 A G 9: 54,951,084 (GRCm39) S60P probably damaging Het
Cpne1 A G 2: 155,920,670 (GRCm39) probably null Het
Cubn G A 2: 13,496,500 (GRCm39) probably benign Het
Cxcl15 T C 5: 90,949,153 (GRCm39) M106T probably benign Het
Cyp2c23 A T 19: 44,005,249 (GRCm39) M140K probably damaging Het
Dgke A G 11: 88,950,901 (GRCm39) F104S probably benign Het
Dhx36 T A 3: 62,380,150 (GRCm39) M849L probably benign Het
Dnah7a C T 1: 53,583,670 (GRCm39) E1522K possibly damaging Het
Edil3 G T 13: 89,325,297 (GRCm39) V219F probably damaging Het
Egln1 A G 8: 125,675,234 (GRCm39) V187A possibly damaging Het
Fam193a T C 5: 34,596,722 (GRCm39) I455T possibly damaging Het
Fdft1 A T 14: 63,400,869 (GRCm39) I88N probably damaging Het
Fem1c G A 18: 46,638,227 (GRCm39) R592C probably benign Het
Frs2 T A 10: 116,910,487 (GRCm39) S292C probably damaging Het
Gpr107 T A 2: 31,062,006 (GRCm39) F145I probably benign Het
Gpr153 T A 4: 152,363,830 (GRCm39) C83* probably null Het
H2-Q7 T G 17: 35,659,162 (GRCm39) probably null Het
Hsp90b1 A T 10: 86,531,612 (GRCm39) probably benign Het
Kcnk1 C A 8: 126,752,028 (GRCm39) N211K probably damaging Het
Klb T C 5: 65,537,070 (GRCm39) V800A probably benign Het
Lat2 T C 5: 134,635,637 (GRCm39) Y59C probably damaging Het
Mlkl A T 8: 112,054,433 (GRCm39) probably benign Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mtbp T A 15: 55,426,338 (GRCm39) C93* probably null Het
Myo7a A G 7: 97,730,387 (GRCm39) probably benign Het
Myt1 G A 2: 181,449,180 (GRCm39) probably benign Het
Ogfrl1 T C 1: 23,414,835 (GRCm39) Q224R possibly damaging Het
Or10j2 A G 1: 173,098,569 (GRCm39) T276A probably benign Het
Or56b2 A T 7: 104,338,026 (GRCm39) H268L probably damaging Het
Osbpl2 A G 2: 179,792,083 (GRCm39) probably benign Het
Pira13 T C 7: 3,824,781 (GRCm39) T533A possibly damaging Het
Plb1 C T 5: 32,442,264 (GRCm39) T252M possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbsn T C 6: 92,166,674 (GRCm39) T657A probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rps6kb2 C A 19: 4,207,882 (GRCm39) S348I probably benign Het
Rsrp1 C T 4: 134,651,568 (GRCm39) R111W unknown Het
Ryr3 T C 2: 112,563,327 (GRCm39) T2933A probably benign Het
Scara5 A G 14: 65,968,468 (GRCm39) D247G possibly damaging Het
Slc7a11 C T 3: 50,378,545 (GRCm39) S231N probably benign Het
Sod2 A T 17: 13,229,451 (GRCm39) N91Y probably damaging Het
Spesp1 A T 9: 62,179,967 (GRCm39) S314T probably benign Het
St3gal1 C A 15: 66,985,536 (GRCm39) M39I probably benign Het
Stat6 A T 10: 127,494,110 (GRCm39) I646F probably damaging Het
Tdrd1 A T 19: 56,854,410 (GRCm39) K1119* probably null Het
Thbs2 A G 17: 14,900,077 (GRCm39) I600T probably benign Het
Tor1a A G 2: 30,853,850 (GRCm39) V160A probably damaging Het
Trdmt1 T G 2: 13,528,249 (GRCm39) D104A probably benign Het
Trim58 T C 11: 58,542,219 (GRCm39) V393A probably benign Het
Trip4 C T 9: 65,792,200 (GRCm39) probably benign Het
Trip6 T C 5: 137,309,083 (GRCm39) E341G probably benign Het
Ttn T A 2: 76,545,539 (GRCm39) I32595F probably damaging Het
Ubr4 T A 4: 139,155,339 (GRCm39) probably null Het
Ush2a G A 1: 188,596,890 (GRCm39) V3877I probably benign Het
Vmn1r29 G T 6: 58,284,717 (GRCm39) G146C probably damaging Het
Vmn2r53 A G 7: 12,315,707 (GRCm39) V704A probably benign Het
Vmn2r7 C T 3: 64,623,788 (GRCm39) M268I probably benign Het
Wnt7b G A 15: 85,421,696 (GRCm39) T248M probably damaging Het
Xab2 G A 8: 3,663,649 (GRCm39) P394S possibly damaging Het
Zfp663 A G 2: 165,200,995 (GRCm39) V13A probably damaging Het
Other mutations in Cul7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Cul7 APN 17 46,963,434 (GRCm39) missense probably damaging 1.00
IGL01288:Cul7 APN 17 46,968,733 (GRCm39) splice site probably benign
IGL01669:Cul7 APN 17 46,969,641 (GRCm39) missense possibly damaging 0.94
P0019:Cul7 UTSW 17 46,971,173 (GRCm39) splice site probably benign
PIT4453001:Cul7 UTSW 17 46,962,746 (GRCm39) missense probably damaging 0.99
R0083:Cul7 UTSW 17 46,966,482 (GRCm39) missense probably benign 0.00
R0121:Cul7 UTSW 17 46,974,299 (GRCm39) missense probably damaging 1.00
R0157:Cul7 UTSW 17 46,964,761 (GRCm39) missense possibly damaging 0.93
R0266:Cul7 UTSW 17 46,965,521 (GRCm39) missense probably benign 0.00
R0358:Cul7 UTSW 17 46,974,670 (GRCm39) critical splice donor site probably null
R0544:Cul7 UTSW 17 46,974,470 (GRCm39) missense possibly damaging 0.94
R0565:Cul7 UTSW 17 46,962,929 (GRCm39) missense probably damaging 0.98
R0677:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R0696:Cul7 UTSW 17 46,970,534 (GRCm39) missense probably damaging 1.00
R0702:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R0893:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R0900:Cul7 UTSW 17 46,969,263 (GRCm39) missense probably benign 0.36
R0975:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R0976:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R1014:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R1016:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R1104:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R1162:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R1378:Cul7 UTSW 17 46,973,052 (GRCm39) missense probably damaging 0.99
R1479:Cul7 UTSW 17 46,962,673 (GRCm39) missense probably damaging 1.00
R1498:Cul7 UTSW 17 46,966,636 (GRCm39) missense probably benign 0.01
R1521:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R1542:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R1545:Cul7 UTSW 17 46,962,479 (GRCm39) missense probably damaging 1.00
R1598:Cul7 UTSW 17 46,974,017 (GRCm39) missense probably benign 0.10
R1600:Cul7 UTSW 17 46,962,748 (GRCm39) nonsense probably null
R1618:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R1752:Cul7 UTSW 17 46,964,093 (GRCm39) missense probably benign 0.10
R1881:Cul7 UTSW 17 46,962,888 (GRCm39) missense probably damaging 1.00
R1901:Cul7 UTSW 17 46,966,666 (GRCm39) missense probably damaging 1.00
R1902:Cul7 UTSW 17 46,966,666 (GRCm39) missense probably damaging 1.00
R1913:Cul7 UTSW 17 46,974,116 (GRCm39) missense probably damaging 0.99
R2213:Cul7 UTSW 17 46,962,398 (GRCm39) missense probably damaging 0.99
R2370:Cul7 UTSW 17 46,972,567 (GRCm39) missense probably damaging 1.00
R2929:Cul7 UTSW 17 46,962,526 (GRCm39) missense probably benign 0.00
R2930:Cul7 UTSW 17 46,962,526 (GRCm39) missense probably benign 0.00
R2990:Cul7 UTSW 17 46,962,526 (GRCm39) missense probably benign 0.00
R2992:Cul7 UTSW 17 46,962,526 (GRCm39) missense probably benign 0.00
R4201:Cul7 UTSW 17 46,972,238 (GRCm39) missense probably damaging 1.00
R4792:Cul7 UTSW 17 46,967,976 (GRCm39) nonsense probably null
R4971:Cul7 UTSW 17 46,970,045 (GRCm39) missense probably benign 0.00
R5014:Cul7 UTSW 17 46,966,868 (GRCm39) makesense probably null
R5384:Cul7 UTSW 17 46,965,403 (GRCm39) missense probably benign 0.44
R5957:Cul7 UTSW 17 46,968,683 (GRCm39) missense probably damaging 1.00
R6128:Cul7 UTSW 17 46,962,588 (GRCm39) missense probably damaging 1.00
R6294:Cul7 UTSW 17 46,974,074 (GRCm39) missense probably benign
R6812:Cul7 UTSW 17 46,972,335 (GRCm39) missense probably benign 0.00
R7073:Cul7 UTSW 17 46,969,657 (GRCm39) missense probably damaging 1.00
R7112:Cul7 UTSW 17 46,962,624 (GRCm39) missense probably damaging 1.00
R7246:Cul7 UTSW 17 46,972,993 (GRCm39) missense probably benign 0.04
R7361:Cul7 UTSW 17 46,967,933 (GRCm39) missense probably damaging 1.00
R7567:Cul7 UTSW 17 46,965,521 (GRCm39) missense probably benign 0.00
R7682:Cul7 UTSW 17 46,966,521 (GRCm39) missense probably benign
R7689:Cul7 UTSW 17 46,963,747 (GRCm39) nonsense probably null
R7797:Cul7 UTSW 17 46,969,568 (GRCm39) missense possibly damaging 0.65
R7897:Cul7 UTSW 17 46,968,931 (GRCm39) missense probably benign
R8783:Cul7 UTSW 17 46,966,575 (GRCm39) missense probably benign
R9047:Cul7 UTSW 17 46,965,448 (GRCm39) missense probably benign 0.01
R9167:Cul7 UTSW 17 46,966,623 (GRCm39) missense probably benign 0.14
R9614:Cul7 UTSW 17 46,975,212 (GRCm39) missense probably damaging 1.00
Z1177:Cul7 UTSW 17 46,970,495 (GRCm39) missense probably damaging 0.99
Z1177:Cul7 UTSW 17 46,969,664 (GRCm39) missense probably damaging 0.99
Z1177:Cul7 UTSW 17 46,963,731 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ATCAGAAGCCATCGTGCCCAGAAG -3'
(R):5'- ATTCCTGACTCAGAGCAGTCTGCC -3'

Sequencing Primer
(F):5'- ATCGTGCCCAGAAGTCCTG -3'
(R):5'- CAAAGAGTTTAGATCCTCGGGG -3'
Posted On 2014-08-26