Incidental Mutation 'R1498:Cul7'
ID 169085
Institutional Source Beutler Lab
Gene Symbol Cul7
Ensembl Gene ENSMUSG00000038545
Gene Name cullin 7
Synonyms p185, p193, C230011P08Rik, 2510004L20Rik
MMRRC Submission 039549-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1498 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46961264-46975290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46966636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 355 (D355G)
Ref Sequence ENSEMBL: ENSMUSP00000119393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043464] [ENSMUST00000133393] [ENSMUST00000145567]
AlphaFold Q8VE73
Predicted Effect probably benign
Transcript: ENSMUST00000043464
AA Change: D653G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: D653G

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: ENSMUST00000132790
Predicted Effect probably benign
Transcript: ENSMUST00000133393
AA Change: D355G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000119393
Gene: ENSMUSG00000038545
AA Change: D355G

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 noncoding transcript
Transcript: ENSMUST00000144966
Predicted Effect silent
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: ENSMUST00000151002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Meta Mutation Damage Score 0.0984 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 97% (83/86)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,374,627 (GRCm39) S799P probably benign Het
Acvr1b T C 15: 101,091,891 (GRCm39) F57S probably benign Het
Adamts5 T A 16: 85,696,990 (GRCm39) T56S possibly damaging Het
Adrb2 T C 18: 62,312,004 (GRCm39) T274A probably damaging Het
Agr3 A T 12: 35,984,379 (GRCm39) probably null Het
Ankrd6 A G 4: 32,810,289 (GRCm39) M405T probably benign Het
Aoc1l2 A G 6: 48,908,305 (GRCm39) H435R probably benign Het
Aqp5 T C 15: 99,491,128 (GRCm39) I60T probably damaging Het
Arf5 G T 6: 28,426,153 (GRCm39) R180L probably benign Het
Asap3 A G 4: 135,966,505 (GRCm39) N528D probably benign Het
Atmin G A 8: 117,681,540 (GRCm39) E180K probably benign Het
Bcl11a A T 11: 24,114,005 (GRCm39) E449D probably damaging Het
Cep128 A T 12: 91,333,191 (GRCm39) F25I probably benign Het
Cfp GCAC GC X: 20,795,905 (GRCm39) probably null Het
Chpt1 T A 10: 88,312,966 (GRCm39) Y282F possibly damaging Het
Daxx T C 17: 34,131,227 (GRCm39) Y385H probably damaging Het
Dnah2 A C 11: 69,411,493 (GRCm39) probably null Het
Dscc1 CTGAATGAAT CTGAAT 15: 54,943,572 (GRCm39) probably benign Het
Erc2 T A 14: 28,024,855 (GRCm39) M578K probably benign Het
Evc T A 5: 37,481,044 (GRCm39) H267L possibly damaging Het
Exosc10 A C 4: 148,666,243 (GRCm39) Q837P possibly damaging Het
Fasn G A 11: 120,706,245 (GRCm39) T1033I probably damaging Het
Fat1 C A 8: 45,478,521 (GRCm39) Y2522* probably null Het
Fbxw8 G A 5: 118,203,850 (GRCm39) probably benign Het
Fyn A G 10: 39,408,120 (GRCm39) D321G possibly damaging Het
Grm6 G A 11: 50,748,083 (GRCm39) V398M probably damaging Het
Gtpbp1 T A 15: 79,603,222 (GRCm39) probably null Het
Hnf1a A G 5: 115,108,596 (GRCm39) V103A probably damaging Het
Hsp90aa1 A T 12: 110,662,122 (GRCm39) probably null Het
Iqgap2 C T 13: 95,783,313 (GRCm39) V1288I probably benign Het
Irx5 A G 8: 93,086,514 (GRCm39) D199G probably damaging Het
Klrh1 A G 6: 129,748,703 (GRCm39) S105P probably damaging Het
Krt9 G T 11: 100,079,195 (GRCm39) C732* probably null Het
Lifr T C 15: 7,220,099 (GRCm39) S910P probably damaging Het
Lrig1 G A 6: 94,604,968 (GRCm39) A209V possibly damaging Het
Lrrk1 T A 7: 65,952,419 (GRCm39) R506* probably null Het
Lyst T A 13: 13,824,960 (GRCm39) I1525K possibly damaging Het
Mad2l1 C T 6: 66,516,826 (GRCm39) Q173* probably null Het
Mcoln1 T A 8: 3,562,861 (GRCm39) I524N probably damaging Het
Mmp3 A T 9: 7,446,967 (GRCm39) D49V possibly damaging Het
Morc3 A T 16: 93,650,743 (GRCm39) N321I probably damaging Het
Mrpl48 T C 7: 100,195,695 (GRCm39) probably benign Het
Myo6 T A 9: 80,214,961 (GRCm39) D1231E probably damaging Het
Nlrc4 A G 17: 74,753,408 (GRCm39) I325T probably benign Het
Or1j19 A T 2: 36,677,358 (GRCm39) I274F probably damaging Het
Or2ag17 T C 7: 106,389,623 (GRCm39) Y195C possibly damaging Het
Or4f61 A T 2: 111,922,938 (GRCm39) M36K probably benign Het
Or8c16 C G 9: 38,130,676 (GRCm39) P183A probably damaging Het
Or8k32 A G 2: 86,368,902 (GRCm39) V117A probably benign Het
Parvg T A 15: 84,218,832 (GRCm39) S230T possibly damaging Het
Pcca T C 14: 122,854,230 (GRCm39) I118T probably damaging Het
Pde6a A G 18: 61,365,932 (GRCm39) N219S possibly damaging Het
Phldb1 G T 9: 44,612,915 (GRCm39) P935Q possibly damaging Het
Plppr5 T C 3: 117,456,261 (GRCm39) S261P probably damaging Het
Ppl T C 16: 4,922,629 (GRCm39) N260S probably benign Het
Ppp1r3e A T 14: 55,113,882 (GRCm39) H263Q probably benign Het
Ppp3cb T C 14: 20,559,567 (GRCm39) probably null Het
Ppt2 A T 17: 34,842,075 (GRCm39) D185E probably benign Het
Prr27 A T 5: 87,998,600 (GRCm39) probably benign Het
Ptcd3 A T 6: 71,870,479 (GRCm39) V327E probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rtp1 A T 16: 23,249,970 (GRCm39) M112L probably benign Het
Slc22a5 A T 11: 53,760,140 (GRCm39) L392Q probably damaging Het
Slc6a7 A G 18: 61,129,764 (GRCm39) I614T probably benign Het
Slu7 C A 11: 43,329,044 (GRCm39) P89T possibly damaging Het
Smarcc2 T C 10: 128,318,061 (GRCm39) V618A probably benign Het
Sorl1 C T 9: 41,952,369 (GRCm39) R729Q probably damaging Het
Sptbn2 T C 19: 4,794,274 (GRCm39) F1493L possibly damaging Het
Sulf1 C T 1: 12,918,574 (GRCm39) T66I probably damaging Het
Tgtp2 A G 11: 48,950,165 (GRCm39) Y136H probably damaging Het
Tmem117 T C 15: 94,536,242 (GRCm39) F92S probably damaging Het
Tmprss9 T A 10: 80,730,934 (GRCm39) V820E probably benign Het
Tpcn2 A G 7: 144,822,648 (GRCm39) Y266H probably damaging Het
Trat1 A G 16: 48,555,304 (GRCm39) S143P probably benign Het
Vmn1r49 T A 6: 90,049,298 (GRCm39) R235W probably damaging Het
Vmn1r71 A T 7: 10,482,575 (GRCm39) C38S probably benign Het
Vmn2r6 T A 3: 64,463,890 (GRCm39) T315S probably damaging Het
Wdr36 A G 18: 32,986,021 (GRCm39) D575G possibly damaging Het
Zfp292 G T 4: 34,805,397 (GRCm39) A2549E possibly damaging Het
Zfp354a A T 11: 50,961,073 (GRCm39) H426L probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp648 T A 1: 154,081,119 (GRCm39) I426N probably damaging Het
Zfp87 T C 13: 74,520,736 (GRCm39) N114S probably benign 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
R0735: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
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'- ACTTCAGAGTGCCAGCCCTGCC -3'
(R):5'- AGCTTCTCCCCAGAGTGGGACAG -3'

Sequencing Primer
(F):5'- GTCCTTGTGGAACTGGAACA -3'
(R):5'- ACAGGGTTACCTCTCGGTCAG -3'
Posted On 2014-04-13