Incidental Mutation 'R5889:Scube3'
ID 456245
Institutional Source Beutler Lab
Gene Symbol Scube3
Ensembl Gene ENSMUSG00000038677
Gene Name signal peptide, CUB domain, EGF-like 3
Synonyms D030038I21Rik
MMRRC Submission 044090-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # R5889 (G1)
Quality Score 223
Status Validated
Chromosome 17
Chromosomal Location 28361115-28393828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28379887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 272 (R272G)
Ref Sequence ENSEMBL: ENSMUSP00000038366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043503]
AlphaFold Q66PY1
Predicted Effect possibly damaging
Transcript: ENSMUST00000043503
AA Change: R272G

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038366
Gene: ENSMUSG00000038677
AA Change: R272G

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: R188G
SMART Domains Protein: ENSMUSP00000117490
Gene: ENSMUSG00000038677
AA Change: R188G

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 0.0941 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 100% (63/63)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T C 2: 35,244,461 (GRCm39) E297G probably damaging Het
Astn1 C T 1: 158,427,950 (GRCm39) P707L possibly damaging Het
Cep290 T C 10: 100,334,936 (GRCm39) S319P possibly damaging Het
Chrna4 A C 2: 180,670,451 (GRCm39) L435W probably damaging Het
Cilp C A 9: 65,187,625 (GRCm39) A1240D possibly damaging Het
Col17a1 A G 19: 47,637,511 (GRCm39) F1249S possibly damaging Het
Creb3l3 T C 10: 80,928,367 (GRCm39) probably benign Het
Cyp4f40 C A 17: 32,894,731 (GRCm39) T432N probably benign Het
Dsg1c T G 18: 20,416,658 (GRCm39) I853R possibly damaging Het
Ebna1bp2 T A 4: 118,478,620 (GRCm39) D34E probably damaging Het
Edc4 C T 8: 106,614,654 (GRCm39) T112I possibly damaging Het
Enpep T A 3: 129,106,227 (GRCm39) Y333F probably damaging Het
Exoc6 A G 19: 37,570,693 (GRCm39) H291R probably damaging Het
Fbln5 G T 12: 101,731,485 (GRCm39) N236K probably damaging Het
Fndc8 A T 11: 82,789,555 (GRCm39) T238S probably damaging Het
Frem3 T C 8: 81,340,917 (GRCm39) V1070A probably damaging Het
Gabra4 A T 5: 71,729,234 (GRCm39) N515K possibly damaging Het
Gemin5 A G 11: 58,013,181 (GRCm39) V1422A possibly damaging Het
Gm10118 A G 10: 63,762,890 (GRCm39) probably benign Het
Grm5 A G 7: 87,252,281 (GRCm39) D177G probably damaging Het
Gtf2h4 G A 17: 35,981,792 (GRCm39) P147L possibly damaging Het
Hgsnat T C 8: 26,453,395 (GRCm39) D265G probably damaging Het
Hsd17b4 T A 18: 50,310,276 (GRCm39) L513Q probably damaging Het
Hsd17b7 A T 1: 169,783,487 (GRCm39) M307K probably benign Het
Hspa5 T C 2: 34,664,629 (GRCm39) V361A probably damaging Het
Iqgap2 A G 13: 95,768,550 (GRCm39) V1450A probably benign Het
Itpr3 A G 17: 27,334,039 (GRCm39) E2037G probably damaging Het
Itprid2 T A 2: 79,488,072 (GRCm39) D718E probably damaging Het
Lama5 T C 2: 179,835,467 (GRCm39) probably benign Het
Manba G T 3: 135,230,359 (GRCm39) G311* probably null Het
Mettl24 T A 10: 40,622,486 (GRCm39) V236E probably benign Het
Myh3 A G 11: 66,977,201 (GRCm39) D310G probably damaging Het
Ncoa4 A T 14: 31,888,616 (GRCm39) probably benign Het
Nop56 G T 2: 130,117,902 (GRCm39) R126L probably damaging Het
Nos3 C A 5: 24,573,775 (GRCm39) probably benign Het
Or13c7b T C 4: 43,820,492 (GRCm39) M290V possibly damaging Het
Pcdhga3 T A 18: 37,809,662 (GRCm39) V705D probably damaging Het
Prom2 C T 2: 127,371,331 (GRCm39) A776T possibly damaging Het
Prss48 A G 3: 85,905,492 (GRCm39) I127T probably damaging Het
Rtca T C 3: 116,293,232 (GRCm39) Y193C possibly damaging Het
Samd9l T C 6: 3,376,460 (GRCm39) Y267C probably damaging Het
Sprr1a G T 3: 92,391,951 (GRCm39) H17N probably benign Het
Stard3 G C 11: 98,266,361 (GRCm39) Q120H probably benign Het
Supt6 A G 11: 78,103,574 (GRCm39) I1377T probably damaging Het
Svop A T 5: 114,203,692 (GRCm39) S30T probably benign Het
Syne2 T A 12: 76,119,026 (GRCm39) L5882* probably null Het
Tanc2 G T 11: 105,812,633 (GRCm39) R1359L probably benign Het
Tmc7 A C 7: 118,165,549 (GRCm39) L55R probably benign Het
Trappc11 G A 8: 47,972,613 (GRCm39) A320V probably benign Het
Ttll8 G C 15: 88,818,142 (GRCm39) P178A probably damaging Het
Ttn T C 2: 76,560,993 (GRCm39) E20809G probably damaging Het
Tubb2a A T 13: 34,259,451 (GRCm39) V113E possibly damaging Het
Ube2d1 A T 10: 71,095,699 (GRCm39) probably benign Het
Usp48 T C 4: 137,343,723 (GRCm39) V452A probably benign Het
Vldlr T A 19: 27,217,064 (GRCm39) I39N probably damaging Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Zyg11b C T 4: 108,094,577 (GRCm39) W669* probably null 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
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
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'- ATCGCTTAACGCTCCTGCTG -3'
(R):5'- CAAAGTGGTAGCTGGACTTCTG -3'

Sequencing Primer
(F):5'- ACCCTGTGAGGTGGCTGAG -3'
(R):5'- TTCTGTGCCCACTGAACTGAGG -3'
Posted On 2017-02-15