Incidental Mutation 'R1766:Scube1'
ID 194409
Institutional Source Beutler Lab
Gene Symbol Scube1
Ensembl Gene ENSMUSG00000016763
Gene Name signal peptide, CUB domain, EGF-like 1
Synonyms 7330410C13Rik, A630023E24Rik
MMRRC Submission 039798-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R1766 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 83489200-83609222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83606146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 42 (D42V)
Ref Sequence ENSEMBL: ENSMUSP00000130131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016907] [ENSMUST00000043634] [ENSMUST00000076060] [ENSMUST00000171496]
AlphaFold Q6NZL8
Predicted Effect probably damaging
Transcript: ENSMUST00000016907
AA Change: D42V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016907
Gene: ENSMUSG00000016763
AA Change: D42V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
EGF_CA 33 73 1.5e-9 SMART
EGF_CA 74 116 7.29e-8 SMART
EGF_CA 117 157 1.4e-9 SMART
EGF 165 203 1.43e-1 SMART
EGF 205 242 1.09e1 SMART
EGF 274 311 1.69e-3 SMART
EGF_CA 312 352 2.13e-9 SMART
EGF_CA 353 391 4.7e-11 SMART
EGF_CA 392 432 3.91e-8 SMART
low complexity region 560 573 N/A INTRINSIC
Pfam:GCC2_GCC3 666 713 4.5e-13 PFAM
EGF_like 766 804 6.81e1 SMART
CUB 828 940 1.51e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000043634
AA Change: D42V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044835
Gene: ENSMUSG00000016763
AA Change: D42V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
EGF_CA 33 73 1.5e-9 SMART
EGF_CA 74 116 7.29e-8 SMART
EGF_CA 117 157 1.4e-9 SMART
EGF 163 200 1.69e-3 SMART
EGF_CA 201 241 2.13e-9 SMART
EGF_CA 242 280 4.7e-11 SMART
EGF_CA 281 321 3.91e-8 SMART
low complexity region 449 462 N/A INTRINSIC
Pfam:GCC2_GCC3 555 602 3.2e-11 PFAM
EGF_like 655 693 6.81e1 SMART
CUB 717 829 1.51e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000076060
AA Change: D42V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075434
Gene: ENSMUSG00000016763
AA Change: D42V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
EGF_CA 33 73 1.5e-9 SMART
EGF_CA 74 116 7.29e-8 SMART
EGF_CA 117 157 1.4e-9 SMART
EGF 165 203 1.43e-1 SMART
EGF 205 242 1.09e1 SMART
EGF 244 281 1.69e-3 SMART
EGF_CA 282 322 2.13e-9 SMART
EGF_CA 323 361 4.7e-11 SMART
EGF_CA 362 402 3.91e-8 SMART
low complexity region 530 543 N/A INTRINSIC
Pfam:GCC2_GCC3 636 683 1.3e-11 PFAM
EGF_like 736 774 6.81e1 SMART
CUB 798 910 1.51e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144773
Predicted Effect probably damaging
Transcript: ENSMUST00000171496
AA Change: D42V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130131
Gene: ENSMUSG00000016763
AA Change: D42V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
EGF_CA 33 73 1.5e-9 SMART
EGF_CA 74 116 7.29e-8 SMART
EGF_CA 117 157 1.4e-9 SMART
EGF 165 203 1.43e-1 SMART
EGF 205 242 1.09e1 SMART
EGF 244 281 1.69e-3 SMART
EGF_CA 282 322 2.13e-9 SMART
EGF_CA 323 361 4.7e-11 SMART
EGF_CA 362 402 3.91e-8 SMART
low complexity region 530 543 N/A INTRINSIC
Pfam:GCC2_GCC3 636 683 1.7e-11 PFAM
EGF_like 736 774 6.81e1 SMART
CUB 798 910 1.51e-19 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]
PHENOTYPE: A fraction of homozygotes die neonatally with acrania and loss of brain tissue. Early skull bone defects include lack of the interparietal and supraoccipital bones and cranial vault. Affected mutant embryos show exencephaly, a thick-walled forebrain neuroepithelium and hyperplastic cranial ganglia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T C 10: 42,330,491 (GRCm39) T59A probably benign Het
Ankrd17 T A 5: 90,412,656 (GRCm39) M1223L possibly damaging Het
Ankrd24 G A 10: 81,474,472 (GRCm39) S68N probably benign Het
Arhgap31 A G 16: 38,445,952 (GRCm39) I131T probably damaging Het
Arhgef10 A T 8: 15,029,836 (GRCm39) I874F probably damaging Het
Arl5b T C 2: 15,074,648 (GRCm39) V43A probably benign Het
BC051665 G A 13: 60,932,854 (GRCm39) H36Y probably benign Het
Cdh9 A G 15: 16,778,392 (GRCm39) D69G probably damaging Het
Chd6 G A 2: 160,808,559 (GRCm39) L1552F probably damaging Het
Chrd A G 16: 20,556,191 (GRCm39) H584R probably damaging Het
Dnhd1 G A 7: 105,343,179 (GRCm39) V1508I possibly damaging Het
Dpy19l4 C T 4: 11,303,360 (GRCm39) G187D probably damaging Het
Dync2h1 T C 9: 7,015,526 (GRCm39) probably null Het
Ehbp1l1 A G 19: 5,766,434 (GRCm39) V1303A probably damaging Het
Eif4e1b G A 13: 54,934,704 (GRCm39) E182K probably damaging Het
Fam170b A T 14: 32,557,843 (GRCm39) Q226L possibly damaging Het
Fam193a C T 5: 34,619,475 (GRCm39) P760L probably damaging Het
Gabra5 A T 7: 57,157,796 (GRCm39) L6H probably benign Het
Gabrq G A X: 71,876,989 (GRCm39) R161H probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7334 T A 17: 51,006,006 (GRCm39) D97E probably damaging Het
Gpsm1 G A 2: 26,215,395 (GRCm39) A286T probably damaging Het
Gsta4 C A 9: 78,111,611 (GRCm39) Y79* probably null Het
Hcn1 T A 13: 117,793,270 (GRCm39) V174D probably benign Het
Hic1 G T 11: 75,056,620 (GRCm39) C756* probably null Het
Hivep3 C T 4: 119,953,868 (GRCm39) T728I probably benign Het
Ice1 T C 13: 70,752,561 (GRCm39) E1175G possibly damaging Het
Igsf3 T A 3: 101,338,598 (GRCm39) L304Q probably damaging Het
Kpna6 T C 4: 129,551,235 (GRCm39) D90G probably benign Het
Krt73 C T 15: 101,702,363 (GRCm39) G500D probably damaging Het
Lama3 A G 18: 12,535,119 (GRCm39) K156E probably damaging Het
Mdm2 T C 10: 117,531,927 (GRCm39) K94E probably damaging Het
Mitf T C 6: 97,918,060 (GRCm39) S26P probably damaging Het
Myh4 C A 11: 67,147,121 (GRCm39) Q1589K possibly damaging Het
Nlrp4c T A 7: 6,076,113 (GRCm39) V671E probably benign Het
Nop9 C T 14: 55,989,591 (GRCm39) A407V possibly damaging Het
Nrap T A 19: 56,323,474 (GRCm39) H1366L probably damaging Het
Ntrk1 A T 3: 87,685,825 (GRCm39) C766S probably damaging Het
Oog3 C T 4: 143,885,692 (GRCm39) G302D possibly damaging Het
Or4q3 T C 14: 50,583,677 (GRCm39) Y43C probably damaging Het
Or52z15 A G 7: 103,332,068 (GRCm39) N38D possibly damaging Het
Or6c38 T C 10: 128,929,616 (GRCm39) I76V probably benign Het
Or7g27 A G 9: 19,250,154 (GRCm39) T133A probably benign Het
Pdzph1 C T 17: 59,280,747 (GRCm39) V512I probably benign Het
Phf2 A C 13: 48,973,033 (GRCm39) S408A unknown Het
Pigk T G 3: 152,445,793 (GRCm39) L135V probably damaging Het
Ppp2ca C A 11: 52,012,773 (GRCm39) T301N probably benign Het
Ppp4r3a A G 12: 101,024,741 (GRCm39) S253P probably damaging Het
Ptgfrn A T 3: 100,957,438 (GRCm39) I712N probably benign Het
Rapgef2 A T 3: 79,000,010 (GRCm39) D579E probably damaging Het
Rims2 T A 15: 39,325,976 (GRCm39) D769E probably damaging Het
Rptor T A 11: 119,615,887 (GRCm39) C134S probably damaging Het
S100a1 A G 3: 90,418,599 (GRCm39) F72L probably damaging Het
Sh3glb1 T C 3: 144,418,446 (GRCm39) D39G probably damaging Het
Sh3pxd2a T C 19: 47,261,689 (GRCm39) T397A probably benign Het
Siglece G A 7: 43,300,956 (GRCm39) T453M probably damaging Het
Slc26a1 G A 5: 108,819,658 (GRCm39) R514W probably damaging Het
Slc4a8 T C 15: 100,685,093 (GRCm39) V156A probably benign Het
Smchd1 A T 17: 71,698,374 (GRCm39) V1134E probably damaging Het
Sorbs2 A G 8: 46,223,613 (GRCm39) Y222C probably damaging Het
Sorcs3 G T 19: 48,592,314 (GRCm39) W326C possibly damaging Het
Taf2 A G 15: 54,934,793 (GRCm39) V45A probably benign Het
Tex16 T C X: 111,150,782 (GRCm39) Y22H probably benign Het
Tiparp A T 3: 65,439,470 (GRCm39) H80L probably damaging Het
Tmem71 T A 15: 66,413,548 (GRCm39) T175S probably benign Het
Tmem87b T A 2: 128,681,090 (GRCm39) V338D probably damaging Het
Trdn A G 10: 33,240,004 (GRCm39) K445R probably damaging Het
Trim14 A G 4: 46,522,039 (GRCm39) F213L probably benign Het
Tubgcp5 T A 7: 55,464,768 (GRCm39) S550T probably benign Het
Tufm A G 7: 126,089,644 (GRCm39) D446G probably benign Het
Vipr1 A T 9: 121,490,485 (GRCm39) Y177F possibly damaging Het
Vmn2r116 A C 17: 23,620,740 (GRCm39) I825L probably damaging Het
Vmn2r12 G T 5: 109,239,910 (GRCm39) Q218K probably damaging Het
Vwa7 G T 17: 35,242,919 (GRCm39) probably null Het
Ywhae T C 11: 75,646,491 (GRCm39) V119A probably damaging Het
Zfand5 A G 19: 21,257,888 (GRCm39) R199G probably damaging Het
Zfp810 T C 9: 22,189,828 (GRCm39) Y360C possibly damaging Het
Zrsr2-ps1 A G 11: 22,923,637 (GRCm39) D137G probably benign Het
Other mutations in Scube1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Scube1 APN 15 83,587,702 (GRCm39) missense probably damaging 0.98
IGL01152:Scube1 APN 15 83,497,771 (GRCm39) missense probably damaging 1.00
IGL01388:Scube1 APN 15 83,504,332 (GRCm39) missense probably benign 0.00
IGL01589:Scube1 APN 15 83,496,754 (GRCm39) missense probably damaging 1.00
IGL02208:Scube1 APN 15 83,587,741 (GRCm39) missense probably damaging 1.00
IGL02305:Scube1 APN 15 83,491,591 (GRCm39) missense probably damaging 1.00
IGL02728:Scube1 APN 15 83,543,217 (GRCm39) splice site probably benign
IGL02737:Scube1 APN 15 83,606,044 (GRCm39) splice site probably benign
IGL03326:Scube1 APN 15 83,491,617 (GRCm39) missense probably damaging 1.00
R0055:Scube1 UTSW 15 83,518,937 (GRCm39) missense probably damaging 1.00
R0055:Scube1 UTSW 15 83,518,937 (GRCm39) missense probably damaging 1.00
R0126:Scube1 UTSW 15 83,505,264 (GRCm39) missense probably damaging 1.00
R0792:Scube1 UTSW 15 83,512,277 (GRCm39) critical splice acceptor site probably null
R1438:Scube1 UTSW 15 83,499,227 (GRCm39) missense possibly damaging 0.93
R1522:Scube1 UTSW 15 83,512,277 (GRCm39) critical splice acceptor site probably null
R1735:Scube1 UTSW 15 83,491,638 (GRCm39) missense probably damaging 1.00
R1778:Scube1 UTSW 15 83,494,405 (GRCm39) missense probably damaging 1.00
R2975:Scube1 UTSW 15 83,543,299 (GRCm39) missense probably damaging 0.99
R4080:Scube1 UTSW 15 83,492,948 (GRCm39) missense probably damaging 1.00
R4434:Scube1 UTSW 15 83,606,125 (GRCm39) missense probably damaging 1.00
R5585:Scube1 UTSW 15 83,561,124 (GRCm39) missense probably damaging 1.00
R5857:Scube1 UTSW 15 83,491,461 (GRCm39) unclassified probably benign
R5977:Scube1 UTSW 15 83,513,689 (GRCm39) missense probably damaging 1.00
R6054:Scube1 UTSW 15 83,535,877 (GRCm39) missense probably benign 0.43
R6461:Scube1 UTSW 15 83,496,628 (GRCm39) missense probably damaging 1.00
R6956:Scube1 UTSW 15 83,606,077 (GRCm39) missense probably damaging 1.00
R6959:Scube1 UTSW 15 83,513,636 (GRCm39) missense probably benign 0.42
R7124:Scube1 UTSW 15 83,513,712 (GRCm39) splice site probably null
R7267:Scube1 UTSW 15 83,505,266 (GRCm39) missense probably damaging 1.00
R7404:Scube1 UTSW 15 83,499,211 (GRCm39) missense probably damaging 0.98
R7584:Scube1 UTSW 15 83,606,088 (GRCm39) nonsense probably null
R7585:Scube1 UTSW 15 83,522,988 (GRCm39) missense possibly damaging 0.83
R7599:Scube1 UTSW 15 83,497,653 (GRCm39) missense probably damaging 1.00
R8055:Scube1 UTSW 15 83,543,226 (GRCm39) critical splice donor site probably null
R8098:Scube1 UTSW 15 83,543,289 (GRCm39) missense probably damaging 1.00
R8192:Scube1 UTSW 15 83,513,583 (GRCm39) critical splice donor site probably null
R8394:Scube1 UTSW 15 83,492,492 (GRCm39) missense probably damaging 1.00
R8441:Scube1 UTSW 15 83,494,423 (GRCm39) missense probably damaging 0.99
R8713:Scube1 UTSW 15 83,494,471 (GRCm39) missense possibly damaging 0.58
R8844:Scube1 UTSW 15 83,561,164 (GRCm39) missense probably damaging 1.00
R9090:Scube1 UTSW 15 83,494,394 (GRCm39) missense probably damaging 1.00
R9169:Scube1 UTSW 15 83,543,298 (GRCm39) missense possibly damaging 0.88
R9271:Scube1 UTSW 15 83,494,394 (GRCm39) missense probably damaging 1.00
R9334:Scube1 UTSW 15 83,512,264 (GRCm39) missense possibly damaging 0.72
R9363:Scube1 UTSW 15 83,499,080 (GRCm39) nonsense probably null
R9534:Scube1 UTSW 15 83,606,102 (GRCm39) missense probably damaging 1.00
R9569:Scube1 UTSW 15 83,513,605 (GRCm39) missense probably damaging 1.00
R9574:Scube1 UTSW 15 83,501,000 (GRCm39) missense
R9759:Scube1 UTSW 15 83,492,465 (GRCm39) missense probably benign 0.02
R9788:Scube1 UTSW 15 83,535,901 (GRCm39) missense possibly damaging 0.73
X0022:Scube1 UTSW 15 83,518,870 (GRCm39) critical splice donor site probably null
Z1177:Scube1 UTSW 15 83,496,617 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATTGACAGAAGCCCGAACTGCC -3'
(R):5'- AGTTTTCCAATCTGCCACCCTGAG -3'

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