Incidental Mutation 'R2164:Scube3'
ID 235387
Institutional Source Beutler Lab
Gene Symbol Scube3
Ensembl Gene ENSMUSG00000038677
Gene Name signal peptide, CUB domain, EGF-like 3
Synonyms D030038I21Rik
MMRRC Submission 040167-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # R2164 (G1)
Quality Score 212
Status Not validated
Chromosome 17
Chromosomal Location 28361115-28393828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28385108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 686 (V686D)
Ref Sequence ENSEMBL: ENSMUSP00000038366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043503]
AlphaFold Q66PY1
Predicted Effect possibly damaging
Transcript: ENSMUST00000043503
AA Change: V686D

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000038366
Gene: ENSMUSG00000038677
AA Change: V686D

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 CTGTAGGAAATCTTCAATGT CTGT 11: 110,101,019 (GRCm39) probably null Het
Adcy8 C T 15: 64,792,783 (GRCm39) G58S probably benign Het
Adgra2 T A 8: 27,604,232 (GRCm39) L24* probably null Het
Ampd2 C A 3: 107,992,685 (GRCm39) probably benign Het
Ankrd26 T G 6: 118,502,752 (GRCm39) E806A probably damaging Het
Apol9b A G 15: 77,619,639 (GRCm39) D145G probably benign Het
Ash1l T A 3: 88,892,726 (GRCm39) M1535K probably benign Het
Atf6 A G 1: 170,622,304 (GRCm39) M439T probably damaging Het
B3glct A T 5: 149,677,621 (GRCm39) M417L probably damaging Het
Cep192 A T 18: 67,953,431 (GRCm39) T483S probably damaging Het
Cep290 G A 10: 100,354,657 (GRCm39) E914K probably damaging Het
Chst15 C T 7: 131,872,114 (GRCm39) A56T probably damaging Het
Col27a1 A T 4: 63,143,661 (GRCm39) T450S probably benign Het
Cpsf2 A G 12: 101,951,594 (GRCm39) N177S probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Ctc1 C T 11: 68,926,441 (GRCm39) A859V possibly damaging Het
Dcakd A G 11: 102,888,183 (GRCm39) Y134H possibly damaging Het
Dctn3 G T 4: 41,723,065 (GRCm39) Y22* probably null Het
Dync2h1 T A 9: 7,124,797 (GRCm39) D2025V probably damaging Het
Dync2li1 T C 17: 84,943,702 (GRCm39) S92P probably damaging Het
Eml5 A G 12: 98,853,356 (GRCm39) V81A probably damaging Het
Espl1 C T 15: 102,228,023 (GRCm39) R1625C probably damaging Het
Fam181a T C 12: 103,282,785 (GRCm39) V230A probably benign Het
Fanci T A 7: 79,045,743 (GRCm39) D28E probably benign Het
Fmn1 A G 2: 113,195,962 (GRCm39) N554S unknown Het
Frem2 T C 3: 53,444,751 (GRCm39) Y2460C probably damaging Het
Fscb G A 12: 64,520,567 (GRCm39) P300S probably damaging Het
Gm28042 A G 2: 119,867,229 (GRCm39) D438G probably benign Het
Ldaf1 A G 7: 119,719,462 (GRCm39) E157G possibly damaging Het
Map1b C T 13: 99,565,846 (GRCm39) V2292M unknown Het
Nbas A G 12: 13,380,647 (GRCm39) D635G possibly damaging Het
Ncapg2 A G 12: 116,414,095 (GRCm39) probably null Het
Nrp2 A T 1: 62,783,514 (GRCm39) E205V probably damaging Het
Pcdhb3 A T 18: 37,435,239 (GRCm39) T402S possibly damaging Het
Phc1 T C 6: 122,299,296 (GRCm39) N638D possibly damaging Het
Plcb1 A G 2: 135,188,250 (GRCm39) N781S possibly damaging Het
Prkdc T A 16: 15,523,071 (GRCm39) D1164E probably damaging Het
Proser2 T A 2: 6,105,506 (GRCm39) R353W possibly damaging Het
Prxl2b T G 4: 154,982,606 (GRCm39) Y56S probably damaging Het
Ptges T A 2: 30,782,708 (GRCm39) T115S probably benign Het
Ptprk A T 10: 28,436,138 (GRCm39) D833V probably damaging Het
Pum1 T A 4: 130,455,394 (GRCm39) L173* probably null Het
Pum1 G T 4: 130,455,395 (GRCm39) L269F probably damaging Het
Rasgrp4 A G 7: 28,838,470 (GRCm39) Y106C probably damaging Het
Rbbp6 T A 7: 122,598,697 (GRCm39) probably benign Het
Rdh1 A G 10: 127,596,041 (GRCm39) T79A possibly damaging Het
Relb A C 7: 19,347,686 (GRCm39) probably null Het
Rnf122 G A 8: 31,602,192 (GRCm39) W6* probably null Het
Rnf31 A G 14: 55,829,994 (GRCm39) E138G possibly damaging Het
Scaf8 G A 17: 3,247,485 (GRCm39) R936Q probably damaging Het
Snrnp27 A T 6: 86,653,196 (GRCm39) C141S probably benign Het
Spns2 C T 11: 72,349,497 (GRCm39) V252M possibly damaging Het
Tomm40l C T 1: 171,047,703 (GRCm39) S220N probably damaging Het
Trim17 A G 11: 58,862,237 (GRCm39) D423G probably damaging Het
Trpc6 A AT 9: 8,610,466 (GRCm39) probably null Het
Tut4 G A 4: 108,360,226 (GRCm39) R481Q possibly damaging Het
Uba5 A T 9: 103,937,442 (GRCm39) M89K probably damaging Het
Vav2 T C 2: 27,163,718 (GRCm39) D628G probably damaging Het
Vmn2r107 T C 17: 20,595,904 (GRCm39) L819P probably damaging Het
Vmn2r25 A T 6: 123,816,518 (GRCm39) D354E possibly damaging Het
Xrn1 A G 9: 95,888,873 (GRCm39) E984G possibly damaging Het
Zbtb17 T C 4: 141,191,557 (GRCm39) V223A probably benign Het
Zfp592 T C 7: 80,691,186 (GRCm39) S1122P 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
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
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'- ATAGATCTCCCATGGCTGGAG -3'
(R):5'- GTCACCCAGTCTTAGGGAAC -3'

Sequencing Primer
(F):5'- AAGGGGAGTCTTAGGCCTG -3'
(R):5'- CCAGTCTTAGGGAACAGCGG -3'
Posted On 2014-10-01