Incidental Mutation 'R1779:Scube3'
ID 197393
Institutional Source Beutler Lab
Gene Symbol Scube3
Ensembl Gene ENSMUSG00000038677
Gene Name signal peptide, CUB domain, EGF-like 3
Synonyms D030038I21Rik
MMRRC Submission 039810-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # R1779 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 28361115-28393828 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 28387353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000043503]
AlphaFold Q66PY1
Predicted Effect probably benign
Transcript: ENSMUST00000043503
SMART Domains Protein: ENSMUSP00000038366
Gene: ENSMUSG00000038677

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 probably benign
Transcript: ENSMUST00000132670
SMART Domains Protein: ENSMUSP00000117490
Gene: ENSMUSG00000038677

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 97% (101/104)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,200,163 (GRCm39) L476F probably damaging Het
4930432E11Rik A T 7: 29,278,591 (GRCm39) noncoding transcript Het
A930011G23Rik A T 5: 99,370,897 (GRCm39) probably benign Het
Abcd3 A G 3: 121,575,612 (GRCm39) Y217H probably damaging Het
Abraxas1 A T 5: 100,965,822 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,523,346 (GRCm39) Y427C probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam10 T A 9: 70,683,651 (GRCm39) probably benign Het
Adam24 G A 8: 41,134,004 (GRCm39) V491I possibly damaging Het
Adamts2 T G 11: 50,647,524 (GRCm39) V299G probably damaging Het
Adh7 A G 3: 137,929,752 (GRCm39) T143A probably damaging Het
Ahcyl1 A G 3: 107,581,419 (GRCm39) S81P probably benign Het
Arhgap20 C A 9: 51,761,215 (GRCm39) T986K probably benign Het
Atp13a5 A T 16: 29,133,478 (GRCm39) I391N possibly damaging Het
Atp6v0a1 C A 11: 100,917,511 (GRCm39) A143E probably benign Het
Calcrl A G 2: 84,181,629 (GRCm39) I173T probably damaging Het
Casz1 A G 4: 149,017,394 (GRCm39) T228A probably benign Het
Cckar A G 5: 53,857,321 (GRCm39) I292T probably damaging Het
Ccn5 G A 2: 163,670,906 (GRCm39) V138M probably damaging Het
Cfhr2 T A 1: 139,786,383 (GRCm39) probably null Het
Chkb T C 15: 89,313,260 (GRCm39) I109V possibly damaging Het
Clec2i T C 6: 128,865,069 (GRCm39) probably null Het
Clec4a4 T A 6: 123,000,934 (GRCm39) W216R probably damaging Het
Cntnap1 A C 11: 101,077,337 (GRCm39) I1000L probably damaging Het
Cp C A 3: 20,011,549 (GRCm39) D34E possibly damaging Het
Cse1l T C 2: 166,782,044 (GRCm39) probably null Het
Dennd3 T C 15: 73,394,357 (GRCm39) probably null Het
Dnah7a A G 1: 53,616,382 (GRCm39) V1193A probably benign Het
Eaf2 A G 16: 36,630,832 (GRCm39) probably null Het
Efcab3 T A 11: 104,611,765 (GRCm39) S536T probably benign Het
Ephb2 T C 4: 136,421,136 (GRCm39) T405A possibly damaging Het
Fam117a G A 11: 95,269,779 (GRCm39) V348M probably damaging Het
Fh1 T C 1: 175,428,990 (GRCm39) *167W probably null Het
Fmo9 T A 1: 166,490,868 (GRCm39) I486F probably benign Het
Gabbr1 T A 17: 37,365,771 (GRCm39) I150N probably damaging Het
Gfpt1 T C 6: 87,054,179 (GRCm39) V478A possibly damaging Het
Gm2663 A T 6: 40,974,894 (GRCm39) V59E probably damaging Het
Gm4868 T A 5: 125,925,176 (GRCm39) noncoding transcript Het
Heatr4 T A 12: 84,026,934 (GRCm39) T108S probably benign Het
Hells G T 19: 38,935,286 (GRCm39) A319S probably benign Het
Helz2 A G 2: 180,876,780 (GRCm39) V1238A probably benign Het
Helz2 T A 2: 180,880,252 (GRCm39) Q488L possibly damaging Het
Hkdc1 A G 10: 62,227,162 (GRCm39) F765S probably damaging Het
Hspg2 T A 4: 137,245,820 (GRCm39) W938R probably damaging Het
Itpr2 G A 6: 146,060,399 (GRCm39) R2473* probably null Het
Kctd1 C T 18: 15,194,839 (GRCm39) V595I probably benign Het
Krt7 A G 15: 101,321,290 (GRCm39) Y369C probably damaging Het
Krt72 T C 15: 101,689,364 (GRCm39) T323A probably benign Het
Krt76 A G 15: 101,801,122 (GRCm39) L58P unknown Het
Liph C A 16: 21,786,800 (GRCm39) R272L probably benign Het
Lrrc9 A T 12: 72,502,772 (GRCm39) K248* probably null Het
Mei4 T A 9: 81,809,195 (GRCm39) S93T probably damaging Het
Mgll T A 6: 88,790,930 (GRCm39) Y183* probably null Het
Myo5b A G 18: 74,875,218 (GRCm39) M1541V probably benign Het
Napg A G 18: 63,115,762 (GRCm39) E66G probably benign Het
Npr3 T C 15: 11,851,572 (GRCm39) D406G probably damaging Het
Nr2c2 A G 6: 92,136,224 (GRCm39) T355A possibly damaging Het
Or13j1 G A 4: 43,706,041 (GRCm39) H176Y probably damaging Het
Or4a71 A T 2: 89,357,989 (GRCm39) I255K probably benign Het
Or51m1 G T 7: 103,578,668 (GRCm39) V213L probably benign Het
Or51v8 A G 7: 103,319,845 (GRCm39) I131T probably benign Het
Or52z13 A T 7: 103,247,107 (GRCm39) I195F probably damaging Het
Or5b107 T C 19: 13,142,404 (GRCm39) Y9H probably benign Het
Or8d1 A G 9: 38,766,846 (GRCm39) M163V possibly damaging Het
Orai2 T C 5: 136,179,793 (GRCm39) E80G probably damaging Het
Pcdhb14 T A 18: 37,582,535 (GRCm39) V547E probably damaging Het
Pcdhb15 T C 18: 37,609,084 (GRCm39) I772T possibly damaging Het
Pcnt T C 10: 76,244,630 (GRCm39) Q1150R probably damaging Het
Pdcd6 A G 13: 74,453,700 (GRCm39) I146T probably damaging Het
Phldb2 T A 16: 45,621,988 (GRCm39) D664V probably damaging Het
Pik3ap1 A T 19: 41,320,673 (GRCm39) V182E probably damaging Het
Pip4k2a A G 2: 18,852,433 (GRCm39) V283A probably benign Het
Pkdrej A G 15: 85,705,372 (GRCm39) V188A possibly damaging Het
Pnpla6 T C 8: 3,591,404 (GRCm39) W1151R probably damaging Het
Ppp1r14c A G 10: 3,316,890 (GRCm39) Y75C probably damaging Het
Prl2b1 C T 13: 27,567,452 (GRCm39) D224N probably benign Het
Ptgis A G 2: 167,056,778 (GRCm39) S270P probably benign Het
Rgs11 C A 17: 26,429,640 (GRCm39) A446D probably damaging Het
Rims2 A G 15: 39,545,098 (GRCm39) T1531A probably damaging Het
Sbno1 A T 5: 124,526,580 (GRCm39) probably benign Het
Scarb2 C G 5: 92,596,416 (GRCm39) M409I probably benign Het
Slc44a4 T C 17: 35,140,901 (GRCm39) I180T probably damaging Het
Slc9a2 T C 1: 40,781,803 (GRCm39) M344T probably damaging Het
Smc3 A T 19: 53,627,800 (GRCm39) T860S probably benign Het
Snrpa A G 7: 26,891,174 (GRCm39) I99T probably benign Het
Sorcs1 A G 19: 50,163,481 (GRCm39) probably benign Het
Sorl1 C T 9: 41,902,778 (GRCm39) probably null Het
Suds3 T C 5: 117,243,309 (GRCm39) K143R probably benign Het
Supt20 A T 3: 54,622,164 (GRCm39) M424L probably benign Het
Tgtp2 T C 11: 48,949,751 (GRCm39) M274V probably benign Het
Tmem158 T A 9: 123,088,974 (GRCm39) M213L probably benign Het
Tnks C A 8: 35,324,672 (GRCm39) R639L probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trmt10c A C 16: 55,854,938 (GRCm39) N232K possibly damaging Het
Trpm6 C T 19: 18,833,581 (GRCm39) R1587W probably damaging Het
Trrap G A 5: 144,765,400 (GRCm39) V2539I probably benign Het
Tsg101 A G 7: 46,556,835 (GRCm39) S115P probably benign Het
Ttll13 G T 7: 79,910,256 (GRCm39) V800L probably benign Het
Vmn1r57 A G 7: 5,223,576 (GRCm39) T34A possibly damaging Het
Vmn2r118 T A 17: 55,918,530 (GRCm39) T121S probably benign Het
Wdr35 A G 12: 9,035,772 (GRCm39) I238M possibly damaging Het
Zfp81 T A 17: 33,554,080 (GRCm39) T245S probably benign Het
Zfyve26 G T 12: 79,325,237 (GRCm39) P824Q probably 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
R0544:Scube3 UTSW 17 28,383,127 (GRCm39) missense probably damaging 1.00
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'- CACTAATCTCCTGACCTGACGCTTG -3'
(R):5'- GCTGTACTTAGCAGTTTGCTTGCAC -3'

Sequencing Primer
(F):5'- TCTATCACCACTTACGAGACCTG -3'
(R):5'- CAGTTTGCTTGCACATCGG -3'
Posted On 2014-05-23