Incidental Mutation 'R6128:Cul7'
ID 487547
Institutional Source Beutler Lab
Gene Symbol Cul7
Ensembl Gene ENSMUSG00000038545
Gene Name cullin 7
Synonyms p185, p193, C230011P08Rik, 2510004L20Rik
MMRRC Submission 044275-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6128 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 46961264-46975290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46962588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 73 (I73N)
Ref Sequence ENSEMBL: ENSMUSP00000116133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002844] [ENSMUST00000043464] [ENSMUST00000113429] [ENSMUST00000113430] [ENSMUST00000133393] [ENSMUST00000145567]
AlphaFold Q8VE73
Predicted Effect probably benign
Transcript: ENSMUST00000002844
SMART Domains Protein: ENSMUSP00000002844
Gene: ENSMUSG00000002767

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Ribosomal_L2 84 166 3.44e-29 SMART
Ribosomal_L2_C 177 298 1.32e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000043464
AA Change: I73N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: I73N

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 probably benign
Transcript: ENSMUST00000113429
SMART Domains Protein: ENSMUSP00000109056
Gene: ENSMUSG00000002767

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Ribosomal_L2 84 166 1.1e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113430
SMART Domains Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Ribosomal_L2 82 164 1.6e-31 PFAM
Pfam:Ribosomal_L2_C 175 279 5.6e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132790
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 noncoding transcript
Transcript: ENSMUST00000144966
Predicted Effect probably damaging
Transcript: ENSMUST00000145567
AA Change: I73N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545
AA Change: I73N

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: ENSMUST00000156464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
A430033K04Rik A G 5: 138,646,038 (GRCm39) H641R probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Asah1 C T 8: 41,807,092 (GRCm39) V111M probably damaging Het
Ascc3 T C 10: 50,526,734 (GRCm39) L611P probably damaging Het
Atl2 C A 17: 80,172,470 (GRCm39) probably null Het
Bhlhe22 A T 3: 18,109,987 (GRCm39) S346C probably damaging Het
Bicc1 T C 10: 70,776,313 (GRCm39) probably null Het
Bptf G T 11: 106,965,516 (GRCm39) A1163D possibly damaging Het
Bub1b T A 2: 118,448,293 (GRCm39) C382S probably benign Het
Carmil1 A T 13: 24,197,177 (GRCm39) Y158* probably null Het
Ccdc175 A T 12: 72,175,933 (GRCm39) I473K probably benign Het
Ccdc18 A G 5: 108,311,625 (GRCm39) I444V possibly damaging Het
Cep131 T A 11: 119,956,801 (GRCm39) I880F probably damaging Het
Ces2e T A 8: 105,655,428 (GRCm39) I117N probably benign Het
Clk2 C T 3: 89,081,531 (GRCm39) T289M probably damaging Het
Crocc2 A T 1: 93,122,123 (GRCm39) D672V probably benign Het
Cyp2d12 C A 15: 82,443,166 (GRCm39) D358E probably benign Het
Cyp7a1 A G 4: 6,272,788 (GRCm39) S142P possibly damaging Het
Daw1 T A 1: 83,183,647 (GRCm39) C232* probably null Het
Dhx9 T C 1: 153,353,835 (GRCm39) K195R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dpp3 A G 19: 4,972,420 (GRCm39) V168A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ercc6l2 T C 13: 64,001,563 (GRCm39) V459A probably damaging Het
Erp44 A T 4: 48,243,493 (GRCm39) N38K probably damaging Het
Fam135a A G 1: 24,069,821 (GRCm39) probably null Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Fdps T C 3: 89,006,740 (GRCm39) E117G possibly damaging Het
Gbp4 A C 5: 105,283,030 (GRCm39) V80G possibly damaging Het
Glt1d1 A T 5: 127,754,335 (GRCm39) D179V probably damaging Het
Gtf2a1l T A 17: 89,002,086 (GRCm39) V314E probably null Het
Gzmf G T 14: 56,443,443 (GRCm39) Y178* probably null Het
Hira C T 16: 18,751,727 (GRCm39) P509S probably benign Het
Ifi44 T C 3: 151,454,823 (GRCm39) N134S probably benign Het
Igfbp2 T A 1: 72,863,958 (GRCm39) C74S probably damaging Het
Il24 A G 1: 130,813,435 (GRCm39) L54P probably damaging Het
Ints10 T C 8: 69,274,904 (GRCm39) probably null Het
Ipo9 A G 1: 135,318,311 (GRCm39) C700R possibly damaging Het
Kalrn T A 16: 34,033,255 (GRCm39) Q469L probably damaging Het
Lrp1b T G 2: 40,750,667 (GRCm39) I2966L probably benign Het
Lta C A 17: 35,422,817 (GRCm39) V169L possibly damaging Het
Lyst T C 13: 13,933,964 (GRCm39) V3554A possibly damaging Het
Mobp A G 9: 119,997,392 (GRCm39) probably benign Het
Myorg T A 4: 41,498,445 (GRCm39) N395I probably damaging Het
Or10d1 C G 9: 39,484,549 (GRCm39) R2T probably benign Het
Or4b1d A T 2: 89,968,954 (GRCm39) C176* probably null Het
Or8c14-ps1 T C 9: 38,101,299 (GRCm39) S93P probably benign Het
Pacs1 A T 19: 5,202,400 (GRCm39) probably null Het
Phf21a G T 2: 92,181,953 (GRCm39) probably null Het
Pick1 T A 15: 79,123,896 (GRCm39) M89K probably damaging Het
Pik3cb T C 9: 98,946,152 (GRCm39) D558G possibly damaging Het
Pnma8a A G 7: 16,694,661 (GRCm39) D172G probably benign Het
Polr2a A C 11: 69,627,803 (GRCm39) V1368G probably damaging Het
Pomt2 A G 12: 87,158,109 (GRCm39) probably null Het
Pou2f1 T C 1: 165,703,056 (GRCm39) probably benign Het
Rnf145 T C 11: 44,446,018 (GRCm39) V284A probably damaging Het
Robo1 A T 16: 72,809,956 (GRCm39) M1235L probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ryr3 C T 2: 112,784,639 (GRCm39) probably null Het
Scamp1 A C 13: 94,344,735 (GRCm39) L202R possibly damaging Het
Snx25 C T 8: 46,558,240 (GRCm39) V110I probably benign Het
Spata31e2 G A 1: 26,724,506 (GRCm39) P225S probably benign Het
Susd6 T A 12: 80,915,388 (GRCm39) H124Q possibly damaging Het
Tarm1 T C 7: 3,537,720 (GRCm39) T248A probably benign Het
Tc2n A G 12: 101,675,748 (GRCm39) M1T probably null Het
Tcerg1 C A 18: 42,644,563 (GRCm39) probably null Het
Ticrr C A 7: 79,343,716 (GRCm39) P1194T probably damaging Het
Trim31 T G 17: 37,220,491 (GRCm39) V469G probably benign Het
Vcp T C 4: 42,980,941 (GRCm39) E723G probably benign Het
Vmn1r177 C A 7: 23,565,267 (GRCm39) S203I probably damaging Het
Vmn1r177 T A 7: 23,565,268 (GRCm39) S203C probably damaging Het
Vmn1r210 A T 13: 23,012,277 (GRCm39) L3* probably null Het
Wdr27 T A 17: 15,152,796 (GRCm39) R104* probably null Het
Wnk1 A C 6: 119,940,747 (GRCm39) probably null Het
Zfp157 A G 5: 138,453,281 (GRCm39) E88G possibly damaging Het
Zfp708 A T 13: 67,222,965 (GRCm39) L22Q probably damaging Het
Zfp788 T C 7: 41,299,785 (GRCm39) F787S 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
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
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'- ATACAGGGAATTCAGGGTGCC -3'
(R):5'- AGTACATGGACCGTGTGAAG -3'

Sequencing Primer
(F):5'- CCCTGGGGCCTGGCTTG -3'
(R):5'- TACATGGACCGTGTGAAGGAGAG -3'
Posted On 2017-10-10