Incidental Mutation 'R0121:Cul7'
ID 21059
Institutional Source Beutler Lab
Gene Symbol Cul7
Ensembl Gene ENSMUSG00000038545
Gene Name cullin 7
Synonyms p185, p193, C230011P08Rik, 2510004L20Rik
MMRRC Submission 038406-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0121 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46961264-46975290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46974299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 1489 (L1489F)
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: L1489F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: L1489F

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 0.1229 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 89.8%
Validation Efficiency 100% (63/63)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,298,945 (GRCm39) probably null Het
Adgra3 T C 5: 50,183,128 (GRCm39) probably benign Het
Anxa7 A T 14: 20,510,227 (GRCm39) L386M probably damaging Het
Ap2b1 A G 11: 83,212,793 (GRCm39) M58V possibly damaging Het
Arfip2 A G 7: 105,285,578 (GRCm39) L224P probably damaging Het
Arhgap20 A G 9: 51,750,251 (GRCm39) N373S possibly damaging Het
Asph T C 4: 9,635,918 (GRCm39) D73G probably damaging Het
Atp1a2 T A 1: 172,116,909 (GRCm39) E236V probably damaging Het
Atp2a1 A G 7: 126,057,116 (GRCm39) S170P probably damaging Het
Atp4a C G 7: 30,419,526 (GRCm39) R659G probably benign Het
B4galnt3 C T 6: 120,191,999 (GRCm39) R578H probably benign Het
Ccdc178 C A 18: 21,978,081 (GRCm39) probably null Het
Ccnh T A 13: 85,354,312 (GRCm39) M252K probably damaging Het
Clec4b2 A G 6: 123,181,131 (GRCm39) D172G probably benign Het
Col1a1 A G 11: 94,828,895 (GRCm39) E79G unknown Het
Csf3r A G 4: 125,923,642 (GRCm39) N51D probably benign Het
Cyp2b13 G A 7: 25,786,010 (GRCm39) C309Y probably benign Het
Dync2h1 A T 9: 7,001,327 (GRCm39) probably benign Het
Edn1 A G 13: 42,458,741 (GRCm39) T135A probably benign Het
Ephb2 A G 4: 136,498,368 (GRCm39) I237T probably damaging Het
Fam111a T A 19: 12,561,444 (GRCm39) F12L probably benign Het
Foxi2 C A 7: 135,013,640 (GRCm39) A290E probably benign Het
Gabra6 A G 11: 42,205,798 (GRCm39) S353P probably benign Het
Gm4847 T C 1: 166,469,857 (GRCm39) D72G probably damaging Het
Grhl3 A G 4: 135,279,860 (GRCm39) I398T probably damaging Het
Gtdc1 T C 2: 44,455,550 (GRCm39) probably benign Het
Kel A C 6: 41,678,998 (GRCm39) probably benign Het
L3mbtl3 C T 10: 26,189,768 (GRCm39) D499N unknown Het
Lama1 T A 17: 68,105,508 (GRCm39) probably benign Het
Mamdc2 T A 19: 23,288,223 (GRCm39) E605V probably benign Het
Nolc1 G A 19: 46,069,817 (GRCm39) probably benign Het
Nudt12 A T 17: 59,314,634 (GRCm39) S317T possibly damaging Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or4k35 A T 2: 111,100,659 (GRCm39) C18S probably benign Het
Or5w20 A G 2: 87,727,434 (GRCm39) K297R possibly damaging Het
Or8g23 T A 9: 38,971,056 (GRCm39) K302M probably damaging Het
Or8k38 A G 2: 86,488,163 (GRCm39) V213A probably benign Het
Pbld1 C T 10: 62,907,282 (GRCm39) probably benign Het
Prl8a9 T G 13: 27,744,589 (GRCm39) N84T probably benign Het
Psph T A 5: 129,868,633 (GRCm39) probably benign Het
Sbf2 A G 7: 110,088,426 (GRCm39) probably null Het
Senp6 A G 9: 80,023,952 (GRCm39) D405G probably benign Het
Serpinb1a T A 13: 33,032,754 (GRCm39) probably benign Het
Slc2a9 T C 5: 38,556,086 (GRCm39) I287V probably benign Het
Sptbn2 T C 19: 4,795,321 (GRCm39) F1593S probably damaging Het
Tcf21 T C 10: 22,695,706 (GRCm39) T33A probably benign Het
Tdrd3 A T 14: 87,776,915 (GRCm39) Q727L probably damaging Het
Tecpr1 C T 5: 144,147,017 (GRCm39) E450K probably benign Het
Tenm3 G A 8: 48,795,694 (GRCm39) T532I probably damaging Het
Tg A T 15: 66,612,630 (GRCm39) Q396L probably benign Het
Tmtc3 A G 10: 100,294,770 (GRCm39) probably benign Het
Twnk T C 19: 44,997,704 (GRCm39) probably benign Het
Ubac1 A G 2: 25,898,871 (GRCm39) probably null Het
Ubn2 T C 6: 38,429,793 (GRCm39) probably benign Het
Zfp944 T A 17: 22,558,249 (GRCm39) T333S possibly 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
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
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'- GCTCCAGCTTAGAGAAAGAGCCAC -3'
(R):5'- CACCCCTGTAAGGAACATTGGTCAC -3'

Sequencing Primer
(F):5'- TGCATGTGTCCACAGTACAG -3'
(R):5'- AGGAACATTGGTCACTTGCC -3'
Posted On 2013-04-11