Incidental Mutation 'R0565:Cul7'
ID 46161
Institutional Source Beutler Lab
Gene Symbol Cul7
Ensembl Gene ENSMUSG00000038545
Gene Name cullin 7
Synonyms p185, p193, C230011P08Rik, 2510004L20Rik
MMRRC Submission 038756-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0565 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46961264-46975290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46962929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 187 (S187P)
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 possibly damaging
Transcript: ENSMUST00000043464
AA Change: S187P

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: S187P

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: S187P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545
AA Change: S187P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146183
Meta Mutation Damage Score 0.1416 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.6%
Validation Efficiency 100% (73/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,682,200 (GRCm39) H1010L probably benign Het
A2ml1 C A 6: 128,545,706 (GRCm39) E474* probably null Het
Agtr1b T C 3: 20,369,838 (GRCm39) H256R probably damaging Het
Amacr C T 15: 10,982,032 (GRCm39) A46V possibly damaging Het
Atosb A T 4: 43,034,647 (GRCm39) probably benign Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Caskin2 T C 11: 115,691,842 (GRCm39) E981G probably damaging Het
Ccdc88a A G 11: 29,411,042 (GRCm39) probably benign Het
Cd180 A G 13: 102,839,382 (GRCm39) probably benign Het
Cd200l1 T A 16: 45,264,536 (GRCm39) probably benign Het
Cemip G A 7: 83,613,318 (GRCm39) H627Y probably damaging Het
Cep131 G T 11: 119,964,588 (GRCm39) H289Q probably damaging Het
Cep350 G A 1: 155,836,941 (GRCm39) probably benign Het
Cfap52 A T 11: 67,840,425 (GRCm39) C169S probably benign Het
Cps1 A T 1: 67,205,608 (GRCm39) T544S possibly damaging Het
Dhx40 C A 11: 86,661,993 (GRCm39) R688L probably damaging Het
E330034G19Rik C A 14: 24,356,985 (GRCm39) Q174K probably benign Het
Efna5 T C 17: 63,188,031 (GRCm39) Y32C probably damaging Het
Ethe1 A G 7: 24,307,314 (GRCm39) H176R probably benign Het
Exoc3 A G 13: 74,330,394 (GRCm39) probably null Het
Fam135b T A 15: 71,362,686 (GRCm39) N232Y possibly damaging Het
Fndc9 C T 11: 46,128,984 (GRCm39) L168F probably damaging Het
Fpr-rs3 G A 17: 20,844,283 (GRCm39) A286V probably damaging Het
Immt T A 6: 71,823,467 (GRCm39) probably benign Het
Ipo7 T C 7: 109,648,800 (GRCm39) probably benign Het
Ipo8 A T 6: 148,688,221 (GRCm39) L747H probably damaging Het
Ireb2 A T 9: 54,807,267 (GRCm39) N610Y probably damaging Het
Irs2 A G 8: 11,054,592 (GRCm39) V1280A probably damaging Het
Kcnj3 T A 2: 55,485,276 (GRCm39) M458K probably benign Het
Kl A G 5: 150,904,409 (GRCm39) K387R possibly damaging Het
L3mbtl2 C A 15: 81,568,487 (GRCm39) probably benign Het
Lamb1 A C 12: 31,348,914 (GRCm39) I649L probably benign Het
Lipm A C 19: 34,093,906 (GRCm39) L274F probably benign Het
Lrfn3 A G 7: 30,060,216 (GRCm39) V3A probably benign Het
Lrrc8c A C 5: 105,754,894 (GRCm39) D223A probably damaging Het
Ltn1 C A 16: 87,212,898 (GRCm39) K554N probably benign Het
Mertk T C 2: 128,613,403 (GRCm39) I473T probably benign Het
Mfsd12 C A 10: 81,197,243 (GRCm39) N245K probably benign Het
Mmp16 A G 4: 17,987,705 (GRCm39) D89G probably damaging Het
Myo5a T A 9: 75,087,394 (GRCm39) N1083K probably benign Het
Ncapd3 C T 9: 26,999,294 (GRCm39) A1290V probably benign Het
Nefm A G 14: 68,362,070 (GRCm39) S65P probably damaging Het
Nt5c2 C T 19: 46,886,064 (GRCm39) R220H probably damaging Het
Or4c102 T A 2: 88,422,353 (GRCm39) D68E probably benign Het
Osbpl1a A T 18: 12,892,501 (GRCm39) S438R probably damaging Het
Pcdhb5 T C 18: 37,453,820 (GRCm39) S67P possibly damaging Het
Per3 A T 4: 151,118,409 (GRCm39) I228N probably damaging Het
Pnpla7 T G 2: 24,870,129 (GRCm39) probably benign Het
Ppp1r15b G T 1: 133,064,391 (GRCm39) probably benign Het
Psmd2 G T 16: 20,479,176 (GRCm39) L678F probably null Het
Ptch2 A G 4: 116,963,340 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,312,158 (GRCm39) D959E probably benign Het
Rph3al C T 11: 75,724,227 (GRCm39) probably null Het
Sec31b T A 19: 44,512,992 (GRCm39) E499V probably damaging Het
Sel1l T C 12: 91,778,663 (GRCm39) I667M probably benign Het
Sel1l C A 12: 91,780,719 (GRCm39) V641L possibly damaging Het
Slc7a1 T A 5: 148,288,879 (GRCm39) I123F probably damaging Het
Smarca2 G A 19: 26,659,275 (GRCm39) R855Q possibly damaging Het
Sphk1 G T 11: 116,427,184 (GRCm39) probably benign Het
Spink12 C A 18: 44,237,755 (GRCm39) S11* probably null Het
Sstr2 A T 11: 113,516,445 (GRCm39) I342F probably benign Het
Stxbp1 T C 2: 32,709,860 (GRCm39) T78A probably benign Het
Trim11 T A 11: 58,881,410 (GRCm39) S434R probably damaging Het
Ubr2 T C 17: 47,266,812 (GRCm39) E1113G probably damaging Het
Upb1 T A 10: 75,264,188 (GRCm39) probably benign Het
Vit T A 17: 78,932,266 (GRCm39) C458S probably damaging Het
Vmn1r58 T C 7: 5,414,165 (GRCm39) I22V probably benign Het
Vps25 T C 11: 101,149,731 (GRCm39) probably benign Het
Wbp2 G T 11: 115,973,211 (GRCm39) D65E possibly damaging Het
Wdr72 A G 9: 74,124,588 (GRCm39) D980G probably benign Het
Xkr8 A C 4: 132,458,228 (GRCm39) probably null 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
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'- CCTTCACACGGTCCATGTACTCAG -3'
(R):5'- ACCAATCCTTTGCCAGCACTCG -3'

Sequencing Primer
(F):5'- ATGTACTCAGTGCCTATGCCAG -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2013-06-11