Incidental Mutation 'R7567:Cul7'
ID 585557
Institutional Source Beutler Lab
Gene Symbol Cul7
Ensembl Gene ENSMUSG00000038545
Gene Name cullin 7
Synonyms p185, p193, C230011P08Rik, 2510004L20Rik
MMRRC Submission 045629-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7567 (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 46965521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 566 (H566Q)
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 benign
Transcript: ENSMUST00000043464
AA Change: H566Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: H566Q

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
AA Change: H268Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119393
Gene: ENSMUSG00000038545
AA Change: H268Q

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 benign
Transcript: ENSMUST00000145567
AA Change: H566Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545
AA Change: H566Q

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: ENSMUST00000146183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A T 17: 9,226,838 (GRCm39) Q464H probably damaging Het
Abcc5 A T 16: 20,224,260 (GRCm39) S108T probably damaging Het
Acss3 T C 10: 106,959,174 (GRCm39) S91G probably benign Het
Adgrf4 T A 17: 42,978,333 (GRCm39) I337L probably benign Het
Adgrv1 A G 13: 81,581,648 (GRCm39) S4799P probably benign Het
Adgrv1 T C 13: 81,727,596 (GRCm39) D348G probably damaging Het
Afdn A G 17: 14,109,070 (GRCm39) D1546G probably benign Het
Agr2 A T 12: 36,045,946 (GRCm39) R64S probably benign Het
Ankrd13a T A 5: 114,927,545 (GRCm39) probably null Het
Apon T A 10: 128,090,922 (GRCm39) M200K possibly damaging Het
Art4 T C 6: 136,831,428 (GRCm39) S238G possibly damaging Het
Atp2a2 A T 5: 122,629,847 (GRCm39) V74D probably benign Het
Atrnl1 T C 19: 57,687,955 (GRCm39) S807P probably damaging Het
C2cd3 T C 7: 100,080,022 (GRCm39) V936A Het
Car15 T A 16: 17,654,652 (GRCm39) H122L probably damaging Het
Cav3 A T 6: 112,449,428 (GRCm39) R149W probably benign Het
Ccdc8 A T 7: 16,728,687 (GRCm39) I59F probably damaging Het
Ccng2 G A 5: 93,418,731 (GRCm39) V119I probably benign Het
Ceacam2 A G 7: 25,227,333 (GRCm39) I178T probably benign Het
Ces2a A G 8: 105,467,930 (GRCm39) D520G probably benign Het
Cln8 T C 8: 14,945,057 (GRCm39) S124P probably benign Het
Coro2a T A 4: 46,546,674 (GRCm39) D227V probably damaging Het
Cpa4 A C 6: 30,573,889 (GRCm39) R32S probably benign Het
Creb3l4 G T 3: 90,149,729 (GRCm39) D45E probably benign Het
Crybb2 C T 5: 113,213,759 (GRCm39) probably null Het
Cyp2b10 A G 7: 25,614,204 (GRCm39) Y226C probably damaging Het
Dennd2a A T 6: 39,499,743 (GRCm39) V274D probably benign Het
Dmbt1 G A 7: 130,663,093 (GRCm39) probably null Het
Drc7 T C 8: 95,794,684 (GRCm39) I363T probably benign Het
Drd3 G A 16: 43,643,047 (GRCm39) V396I probably benign Het
Dync2i1 A T 12: 116,218,130 (GRCm39) probably null Het
Eif2ak4 A G 2: 118,280,795 (GRCm39) N1054S probably benign Het
Epc1 A C 18: 6,450,084 (GRCm39) V458G probably damaging Het
Exoc1 T A 5: 76,685,562 (GRCm39) D91E probably damaging Het
Fat4 T A 3: 38,943,485 (GRCm39) F793I probably damaging Het
Fhod1 T C 8: 106,074,469 (GRCm39) E6G unknown Het
Galnt16 G A 12: 80,628,084 (GRCm39) probably null Het
Ganc A T 2: 120,286,582 (GRCm39) T804S probably benign Het
Gpam A T 19: 55,070,062 (GRCm39) V398E possibly damaging Het
Gpr68 A G 12: 100,844,623 (GRCm39) V307A probably benign Het
Grm7 C T 6: 111,335,722 (GRCm39) S711L probably damaging Het
Hemgn T A 4: 46,397,034 (GRCm39) R67S probably damaging Het
Hmg20b T C 10: 81,182,493 (GRCm39) D281G possibly damaging Het
Ifi211 A C 1: 173,729,401 (GRCm39) F277V probably damaging Het
Ighmbp2 T C 19: 3,322,981 (GRCm39) I322V probably benign Het
Iqce A T 5: 140,671,830 (GRCm39) L265H probably damaging Het
Itgal G T 7: 126,898,960 (GRCm39) A101S probably benign Het
Kif5a C T 10: 127,073,248 (GRCm39) M647I probably benign Het
Kirrel1 G T 3: 87,002,988 (GRCm39) T135K probably damaging Het
Klf16 T C 10: 80,412,622 (GRCm39) Y138C probably benign Het
Klhl7 A G 5: 24,331,844 (GRCm39) T49A probably benign Het
Mr1 T C 1: 155,022,474 (GRCm39) probably benign Het
Mrc1 A T 2: 14,330,104 (GRCm39) I1238F probably damaging Het
Ncoa5 C T 2: 164,846,171 (GRCm39) M225I possibly damaging Het
Nf1 A T 11: 79,438,052 (GRCm39) T121S probably damaging Het
Ngfr T C 11: 95,465,147 (GRCm39) T234A probably benign Het
Ninj1 T G 13: 49,347,356 (GRCm39) F74V probably damaging Het
Npffr1 T C 10: 61,462,088 (GRCm39) V408A probably benign Het
Nsd2 T C 5: 34,003,570 (GRCm39) V240A probably damaging Het
Obi1 T C 14: 104,716,814 (GRCm39) T520A probably damaging Het
Or12d13 T A 17: 37,648,062 (GRCm39) E20D probably benign Het
Or2z2 A G 11: 58,345,992 (GRCm39) M261T probably damaging Het
Or7a35 T A 10: 78,853,379 (GRCm39) F74L probably benign Het
Or8b44 G A 9: 38,410,369 (GRCm39) V135I probably benign Het
Or8g34 T C 9: 39,373,173 (GRCm39) S146P possibly damaging Het
Ovol1 T C 19: 5,601,614 (GRCm39) H136R probably damaging Het
Prag1 T A 8: 36,569,760 (GRCm39) D114E possibly damaging Het
Pramel17 T C 4: 101,694,331 (GRCm39) N184S probably benign Het
Prss3b C A 6: 41,010,127 (GRCm39) R69L probably benign Het
Prss57 T A 10: 79,623,234 (GRCm39) H71L probably benign Het
Ptgs2 T C 1: 149,978,448 (GRCm39) F187L probably damaging Het
Ptprz1 A T 6: 22,959,779 (GRCm39) N92I probably damaging Het
Rab23 A T 1: 33,773,812 (GRCm39) T91S possibly damaging Het
Rag1 A G 2: 101,474,006 (GRCm39) S379P probably damaging Het
Ribc2 G T 15: 85,027,448 (GRCm39) D310Y probably damaging Het
Rims1 A G 1: 22,507,291 (GRCm39) Y620H probably damaging Het
Rock1 A C 18: 10,090,820 (GRCm39) V938G probably benign Het
Rsph10b A G 5: 143,886,244 (GRCm39) N314S possibly damaging Het
Sertad1 A G 7: 27,189,327 (GRCm39) D216G possibly damaging Het
Shisal1 G A 15: 84,290,914 (GRCm39) T131M probably benign Het
Slco6d1 T A 1: 98,425,252 (GRCm39) V600D probably damaging Het
Snapc2 T C 8: 4,305,314 (GRCm39) I232T probably damaging Het
Snx13 A G 12: 35,136,913 (GRCm39) S125G probably damaging Het
Srcin1 C T 11: 97,425,551 (GRCm39) R502H probably damaging Het
Tesmin A G 19: 3,442,218 (GRCm39) E167G possibly damaging Het
Tex10 T C 4: 48,468,787 (GRCm39) I129M possibly damaging Het
Tmem235 A G 11: 117,754,967 (GRCm39) S140G probably benign Het
Trim60 T A 8: 65,454,177 (GRCm39) D24V probably damaging Het
Ttc39c A G 18: 12,822,936 (GRCm39) E148G probably benign Het
Vmn2r70 G T 7: 85,214,243 (GRCm39) T303K probably benign Het
Wdr48 A T 9: 119,745,894 (GRCm39) T426S possibly damaging Het
Xirp2 A T 2: 67,346,326 (GRCm39) T2856S probably benign Het
Zswim8 A G 14: 20,770,001 (GRCm39) N1356S 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
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
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'- GCGACAGGCTGACTTTTCTTC -3'
(R):5'- ACAGCTGAGGAATGACATCTG -3'

Sequencing Primer
(F):5'- AGGCTGACTTTTCTTCCCCGTAG -3'
(R):5'- CACATGCACATCGTAAGTTTCTGGG -3'
Posted On 2019-10-17