Incidental Mutation 'R0544:Scube3'
ID 44724
Institutional Source Beutler Lab
Gene Symbol Scube3
Ensembl Gene ENSMUSG00000038677
Gene Name signal peptide, CUB domain, EGF-like 3
Synonyms D030038I21Rik
MMRRC Submission 038736-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # R0544 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 28361115-28393828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28383127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 435 (F435S)
Ref Sequence ENSEMBL: ENSMUSP00000038366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043503]
AlphaFold Q66PY1
Predicted Effect probably damaging
Transcript: ENSMUST00000043503
AA Change: F435S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038366
Gene: ENSMUSG00000038677
AA Change: F435S

DomainStartEndE-ValueType
low complexity region 9 15 N/A INTRINSIC
EGF_CA 29 69 5.23e-9 SMART
EGF_CA 70 111 1.2e-8 SMART
EGF_CA 112 152 1.14e-9 SMART
EGF 160 198 6.65e-2 SMART
EGF 200 237 7.95e0 SMART
EGF 239 276 7.76e-3 SMART
EGF_CA 277 317 7.63e-11 SMART
EGF_CA 318 356 7.01e-10 SMART
EGF_CA 357 398 6.8e-8 SMART
Pfam:GCC2_GCC3 642 689 8.6e-15 PFAM
Pfam:GCC2_GCC3 696 743 4.2e-17 PFAM
Pfam:GCC2_GCC3 752 799 5.8e-17 PFAM
CUB 804 916 1.09e-16 SMART
Blast:CUB 942 988 8e-15 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000132670
AA Change: F351S
SMART Domains Protein: ENSMUSP00000117490
Gene: ENSMUSG00000038677
AA Change: F351S

DomainStartEndE-ValueType
EGF_like 1 28 1.2e-1 SMART
EGF_CA 29 69 1.14e-9 SMART
EGF 77 115 6.65e-2 SMART
EGF 117 154 7.95e0 SMART
EGF 156 193 7.76e-3 SMART
EGF_CA 194 234 7.63e-11 SMART
EGF_CA 235 273 7.01e-10 SMART
EGF_CA 274 315 6.8e-8 SMART
Pfam:GCC2_GCC3 559 606 1.8e-17 PFAM
Pfam:GCC2_GCC3 615 662 4.2e-17 PFAM
CUB 667 779 1.09e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137147
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148342
Meta Mutation Damage Score 0.1431 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (97/99)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a targeted allele encoding a truncated protein exhibit normal morphology. Mice with a point mutation show skeletal abnormalities, bone metabolism alterations, changes in renal function, behavioral alternations and hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,394,763 (GRCm39) F130L probably benign Het
Aatf C T 11: 84,313,831 (GRCm39) R511Q probably benign Het
Acot12 A T 13: 91,932,775 (GRCm39) D516V probably benign Het
Adgrb2 T C 4: 129,911,335 (GRCm39) V1207A probably damaging Het
Akap9 A G 5: 4,119,185 (GRCm39) D3564G probably benign Het
Arl8b C T 6: 108,760,189 (GRCm39) probably benign Het
Atf6b T C 17: 34,867,273 (GRCm39) probably null Het
Atrn G A 2: 130,828,746 (GRCm39) G1097D probably damaging Het
Btbd6 A G 12: 112,940,702 (GRCm39) E61G probably damaging Het
Car15 A G 16: 17,653,680 (GRCm39) probably benign Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Carmil2 C T 8: 106,417,867 (GRCm39) A654V probably damaging Het
Ccdc88b A G 19: 6,834,634 (GRCm39) L124P probably damaging Het
Ccnd1 A G 7: 144,491,023 (GRCm39) probably benign Het
Cenph A G 13: 100,909,249 (GRCm39) S53P probably damaging Het
Chrm3 T A 13: 9,927,615 (GRCm39) I474F probably damaging Het
Cln8 T A 8: 14,946,769 (GRCm39) V261E probably benign Het
Coa6 A G 8: 127,149,499 (GRCm39) D25G probably benign Het
Col4a1 T G 8: 11,276,487 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,235,055 (GRCm39) H588R probably damaging Het
Cul7 T C 17: 46,974,470 (GRCm39) L1516P possibly damaging Het
Dcdc5 A G 2: 106,181,909 (GRCm39) noncoding transcript Het
Ddx5 T C 11: 106,673,288 (GRCm39) probably benign Het
Dhx16 C A 17: 36,192,551 (GRCm39) P161Q probably benign Het
Dpy19l1 A T 9: 24,396,406 (GRCm39) probably benign Het
Fastkd5 A G 2: 130,457,216 (GRCm39) V458A probably damaging Het
Fhit A G 14: 9,870,172 (GRCm38) V99A probably damaging Het
Fndc3a A T 14: 72,795,062 (GRCm39) probably benign Het
Foxd4 A T 19: 24,877,182 (GRCm39) S339R possibly damaging Het
Gm10842 T A 11: 105,037,880 (GRCm39) D54E unknown Het
Gns T A 10: 121,212,172 (GRCm39) Y94* probably null Het
Gp2 A G 7: 119,053,719 (GRCm39) W81R probably benign Het
Hdac5 T G 11: 102,086,922 (GRCm39) Q46P probably damaging Het
Homer2 A C 7: 81,299,426 (GRCm39) V13G probably damaging Het
Irs3 A G 5: 137,642,101 (GRCm39) S446P probably benign Het
Ism2 G T 12: 87,332,113 (GRCm39) D141E probably damaging Het
Jak1 T A 4: 101,048,822 (GRCm39) M19L probably benign Het
Kcnd3 C A 3: 105,566,075 (GRCm39) R419S probably damaging Het
Lamb1 T C 12: 31,332,694 (GRCm39) F272S probably damaging Het
Ldlrad2 T G 4: 137,299,579 (GRCm39) T82P possibly damaging Het
Lrp2 T C 2: 69,322,275 (GRCm39) K1885E probably benign Het
Mbd5 T C 2: 49,147,221 (GRCm39) V477A possibly damaging Het
Mrps33 A T 6: 39,782,488 (GRCm39) M11K possibly damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myom2 T A 8: 15,119,796 (GRCm39) V184E probably damaging Het
Ncor1 C A 11: 62,224,602 (GRCm39) G1210V probably damaging Het
Ncor1 C T 11: 62,224,603 (GRCm39) G1210R probably damaging Het
Nlrp4a A G 7: 26,156,555 (GRCm39) D760G probably benign Het
Noc4l A G 5: 110,798,989 (GRCm39) V231A possibly damaging Het
Or2at1 T C 7: 99,416,867 (GRCm39) I166T probably benign Het
Or4c112 T C 2: 88,854,170 (GRCm39) Y59C probably damaging Het
Or4f14 A T 2: 111,742,905 (GRCm39) Y123* probably null Het
Or4n4b A T 14: 50,536,139 (GRCm39) V209E probably benign Het
Or52ab7 T A 7: 102,977,858 (GRCm39) I55N probably damaging Het
Or5b98 A G 19: 12,931,066 (GRCm39) T38A possibly damaging Het
Or5h25 T A 16: 58,930,588 (GRCm39) K128N probably benign Het
Or8k23 T C 2: 86,186,007 (GRCm39) T240A probably damaging Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Patj T A 4: 98,457,347 (GRCm39) M1283K probably damaging Het
Pkd1 C T 17: 24,804,657 (GRCm39) T790I probably damaging Het
Plod3 C A 5: 137,020,465 (GRCm39) T526K probably benign Het
Plxnb2 C A 15: 89,042,816 (GRCm39) probably benign Het
Polr1g G T 7: 19,093,066 (GRCm39) P38Q probably damaging Het
Pramel1 T A 4: 143,124,175 (GRCm39) D283E possibly damaging Het
Prpf40a T C 2: 53,031,663 (GRCm39) probably benign Het
Psg23 A T 7: 18,348,607 (GRCm39) Y67N probably damaging Het
Rftn1 T A 17: 50,301,289 (GRCm39) Q242L possibly damaging Het
Rp1l1 A T 14: 64,269,515 (GRCm39) E1700D probably benign Het
Sdk2 T C 11: 113,671,836 (GRCm39) Y2104C probably damaging Het
Septin11 A G 5: 93,313,227 (GRCm39) E358G possibly damaging Het
Sh3bp1 T C 15: 78,789,975 (GRCm39) L246P probably damaging Het
Sis T C 3: 72,858,975 (GRCm39) Y352C probably damaging Het
Skint1 T C 4: 111,878,562 (GRCm39) S165P probably damaging Het
Skint10 C T 4: 112,586,008 (GRCm39) probably benign Het
Slc1a2 A T 2: 102,586,417 (GRCm39) R340S probably damaging Het
Slc26a3 C A 12: 31,497,739 (GRCm39) Q48K probably benign Het
Slc5a2 A T 7: 127,869,171 (GRCm39) Y317F probably damaging Het
Sorbs3 T A 14: 70,431,375 (GRCm39) T262S probably benign Het
Tas2r118 G T 6: 23,969,400 (GRCm39) S220R probably damaging Het
Terf2ip C A 8: 112,741,974 (GRCm39) Q223K possibly damaging Het
Tespa1 A G 10: 130,196,680 (GRCm39) Q206R probably damaging Het
Tex10 T C 4: 48,462,766 (GRCm39) probably null Het
Tle1 T A 4: 72,043,227 (GRCm39) K547N probably damaging Het
Tmem131l T A 3: 83,805,853 (GRCm39) Q1530L probably damaging Het
Tomm20l A G 12: 71,169,851 (GRCm39) E145G possibly damaging Het
Tra2a C T 6: 49,227,885 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trim37 T A 11: 87,036,328 (GRCm39) Y121* probably null Het
Tube1 C T 10: 39,016,941 (GRCm39) probably null Het
Usp6nl T A 2: 6,425,820 (GRCm39) V187D probably damaging Het
Vmn1r13 T C 6: 57,187,248 (GRCm39) F136L probably benign Het
Vmn1r201 A T 13: 22,659,316 (GRCm39) I177F probably benign Het
Vmn1r203 A T 13: 22,708,443 (GRCm39) T75S possibly damaging Het
Vmn1r225 C T 17: 20,722,718 (GRCm39) S53L probably benign Het
Xab2 A T 8: 3,660,994 (GRCm39) W707R probably damaging Het
Zfp808 T C 13: 62,317,248 (GRCm39) probably benign Het
Zng1 A G 19: 24,926,575 (GRCm39) Y159H possibly damaging Het
Other mutations in Scube3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Scube3 APN 17 28,386,658 (GRCm39) missense probably damaging 1.00
IGL02189:Scube3 APN 17 28,381,970 (GRCm39) missense probably benign
IGL02416:Scube3 APN 17 28,383,110 (GRCm39) missense probably damaging 1.00
IGL02904:Scube3 APN 17 28,386,574 (GRCm39) missense probably benign 0.01
IGL03153:Scube3 APN 17 28,386,032 (GRCm39) missense possibly damaging 0.54
IGL03309:Scube3 APN 17 28,383,331 (GRCm39) nonsense probably null
dinklage UTSW 17 28,381,362 (GRCm39) missense probably damaging 1.00
R0027:Scube3 UTSW 17 28,383,331 (GRCm39) nonsense probably null
R0084:Scube3 UTSW 17 28,381,935 (GRCm39) missense probably benign 0.12
R0122:Scube3 UTSW 17 28,385,502 (GRCm39) splice site probably benign
R1779:Scube3 UTSW 17 28,387,353 (GRCm39) splice site probably benign
R1842:Scube3 UTSW 17 28,384,063 (GRCm39) missense probably damaging 1.00
R1878:Scube3 UTSW 17 28,371,387 (GRCm39) missense probably benign 0.10
R1950:Scube3 UTSW 17 28,383,274 (GRCm39) missense possibly damaging 0.66
R2011:Scube3 UTSW 17 28,387,132 (GRCm39) missense probably damaging 0.99
R2164:Scube3 UTSW 17 28,385,108 (GRCm39) missense possibly damaging 0.64
R4356:Scube3 UTSW 17 28,383,283 (GRCm39) missense probably benign 0.01
R4392:Scube3 UTSW 17 28,383,762 (GRCm39) missense probably null
R4528:Scube3 UTSW 17 28,381,973 (GRCm39) missense possibly damaging 0.82
R4709:Scube3 UTSW 17 28,386,166 (GRCm39) splice site probably null
R4809:Scube3 UTSW 17 28,384,147 (GRCm39) missense probably damaging 1.00
R4832:Scube3 UTSW 17 28,384,989 (GRCm39) missense probably damaging 0.98
R4841:Scube3 UTSW 17 28,383,097 (GRCm39) missense probably damaging 1.00
R4842:Scube3 UTSW 17 28,383,097 (GRCm39) missense probably damaging 1.00
R5372:Scube3 UTSW 17 28,371,456 (GRCm39) missense probably damaging 0.99
R5889:Scube3 UTSW 17 28,379,887 (GRCm39) missense possibly damaging 0.84
R5936:Scube3 UTSW 17 28,384,461 (GRCm39) missense probably damaging 1.00
R6523:Scube3 UTSW 17 28,381,362 (GRCm39) missense probably damaging 1.00
R7051:Scube3 UTSW 17 28,386,573 (GRCm39) missense probably benign
R7337:Scube3 UTSW 17 28,387,156 (GRCm39) missense probably damaging 1.00
R7699:Scube3 UTSW 17 28,386,023 (GRCm39) missense probably damaging 1.00
R7700:Scube3 UTSW 17 28,386,023 (GRCm39) missense probably damaging 1.00
R7848:Scube3 UTSW 17 28,384,569 (GRCm39) missense probably benign
R7950:Scube3 UTSW 17 28,390,200 (GRCm39) missense probably benign 0.11
R8991:Scube3 UTSW 17 28,383,027 (GRCm39) missense probably damaging 0.98
R9376:Scube3 UTSW 17 28,383,670 (GRCm39) missense possibly damaging 0.92
R9469:Scube3 UTSW 17 28,386,138 (GRCm39) nonsense probably null
R9653:Scube3 UTSW 17 28,375,772 (GRCm39) missense probably damaging 1.00
R9660:Scube3 UTSW 17 28,371,414 (GRCm39) missense probably benign 0.05
RF009:Scube3 UTSW 17 28,387,371 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGATTGCACAGGTGTGTGGC -3'
(R):5'- CACGGTGAAACCGTTCTCTGACTC -3'

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