Incidental Mutation 'IGL02728:Scube1'
ID 305354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scube1
Ensembl Gene ENSMUSG00000016763
Gene Name signal peptide, CUB domain, EGF-like 1
Synonyms 7330410C13Rik, A630023E24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL02728
Quality Score
Status
Chromosome 15
Chromosomal Location 83489200-83609222 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 83543217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016907] [ENSMUST00000043634] [ENSMUST00000076060] [ENSMUST00000171496]
AlphaFold Q6NZL8
Predicted Effect probably benign
Transcript: ENSMUST00000016907
SMART Domains Protein: ENSMUSP00000016907
Gene: ENSMUSG00000016763

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 benign
Transcript: ENSMUST00000043634
SMART Domains Protein: ENSMUSP00000044835
Gene: ENSMUSG00000016763

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 benign
Transcript: ENSMUST00000076060
SMART Domains Protein: ENSMUSP00000075434
Gene: ENSMUSG00000016763

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 benign
Transcript: ENSMUST00000171496
SMART Domains Protein: ENSMUSP00000130131
Gene: ENSMUSG00000016763

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229057
Coding Region Coverage
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G T 9: 90,073,880 (GRCm39) probably benign Het
Als2 A G 1: 59,235,506 (GRCm39) V726A probably benign Het
Apba1 G A 19: 23,922,269 (GRCm39) G779E possibly damaging Het
Atr T A 9: 95,818,528 (GRCm39) V2167E probably damaging Het
Bod1l T C 5: 41,983,846 (GRCm39) K566E probably damaging Het
Btd T C 14: 31,389,319 (GRCm39) F347L probably benign Het
Btg2 T C 1: 134,006,643 (GRCm39) probably benign Het
Cblb T A 16: 52,003,672 (GRCm39) S717T probably benign Het
Cep250 T A 2: 155,825,198 (GRCm39) probably benign Het
Cep350 T C 1: 155,828,968 (GRCm39) N312S probably benign Het
Clasp1 A T 1: 118,530,107 (GRCm39) T1490S probably damaging Het
Col7a1 T A 9: 108,813,172 (GRCm39) C2906S probably benign Het
Csmd1 C T 8: 16,049,779 (GRCm39) probably null Het
Cspg4 T A 9: 56,793,765 (GRCm39) V500E probably damaging Het
Cyp7b1 T A 3: 18,126,739 (GRCm39) D469V probably damaging Het
Dhh A T 15: 98,792,192 (GRCm39) probably null Het
Dhrs3 A G 4: 144,646,642 (GRCm39) R231G probably damaging Het
Disp3 A G 4: 148,356,495 (GRCm39) S122P probably damaging Het
Dnah1 T C 14: 31,005,955 (GRCm39) I2275V probably benign Het
Dock8 A C 19: 25,109,584 (GRCm39) N922T probably benign Het
Eef1d A G 15: 75,774,945 (GRCm39) L154P probably damaging Het
Eif4ebp1 C A 8: 27,763,510 (GRCm39) P101Q possibly damaging Het
Eif4g1 T G 16: 20,505,502 (GRCm39) probably benign Het
Emb A G 13: 117,369,301 (GRCm39) M50V probably benign Het
Eml4 T C 17: 83,780,568 (GRCm39) probably null Het
Fkbp10 G T 11: 100,306,803 (GRCm39) R65L probably damaging Het
Gm5878 T C 6: 85,095,574 (GRCm39) N83S probably benign Het
Gm8165 C T 14: 43,913,694 (GRCm39) A57T unknown Het
Gpr179 A G 11: 97,228,726 (GRCm39) V1143A probably damaging Het
Hat1 T C 2: 71,251,604 (GRCm39) Y218H probably damaging Het
Hfm1 T A 5: 107,026,689 (GRCm39) N885I probably benign Het
Ift70a1 T A 2: 75,811,193 (GRCm39) M297L probably benign Het
Inha T C 1: 75,486,091 (GRCm39) S129P probably damaging Het
Ints9 T C 14: 65,230,457 (GRCm39) I128T probably damaging Het
Klra9 T C 6: 130,168,149 (GRCm39) probably null Het
Lrba A G 3: 86,683,356 (GRCm39) E2726G probably damaging Het
Lrp1b T C 2: 40,691,410 (GRCm39) N3356D probably benign Het
Map3k5 A G 10: 19,994,038 (GRCm39) D1008G possibly damaging Het
Med4 T A 14: 73,755,415 (GRCm39) L241Q possibly damaging Het
Mtch1 A G 17: 29,557,716 (GRCm39) V254A possibly damaging Het
Napg C T 18: 63,127,375 (GRCm39) probably benign Het
Or1j11 T C 2: 36,312,156 (GRCm39) S249P possibly damaging Het
Or5k1 C T 16: 58,617,843 (GRCm39) R122H probably benign Het
Or7g33 A G 9: 19,449,142 (GRCm39) F28S possibly damaging Het
Or8d2 T C 9: 38,760,222 (GRCm39) S271P probably damaging Het
Or9r3 T A 10: 129,948,487 (GRCm39) R57S probably damaging Het
Pias1 T A 9: 62,830,926 (GRCm39) S161C probably damaging Het
Pias1 G T 9: 62,830,927 (GRCm39) N160K possibly damaging Het
Pigp G A 16: 94,168,466 (GRCm39) P37S probably damaging Het
Pik3c2b T A 1: 133,020,065 (GRCm39) V1070E probably benign Het
Pramel51 G T 12: 88,142,792 (GRCm39) H275Q probably benign Het
Prepl T C 17: 85,378,010 (GRCm39) T457A probably damaging Het
Psg23 G A 7: 18,340,853 (GRCm39) A467V probably benign Het
Rad54l T C 4: 115,980,146 (GRCm39) R13G probably benign Het
Rassf5 T C 1: 131,108,336 (GRCm39) D248G probably damaging Het
Rspo1 A G 4: 124,898,955 (GRCm39) N92S probably damaging Het
Sec31b C A 19: 44,511,554 (GRCm39) V616F probably damaging Het
Sema3a T C 5: 13,615,881 (GRCm39) V435A probably damaging Het
Slc7a10 T A 7: 34,897,123 (GRCm39) I208N probably damaging Het
Stab2 A T 10: 86,692,420 (GRCm39) M2151K possibly damaging Het
Tacc1 T C 8: 25,665,235 (GRCm39) D50G probably damaging Het
Tas2r121 G T 6: 132,677,480 (GRCm39) T164N probably damaging Het
Tatdn2 T C 6: 113,681,676 (GRCm39) W570R probably damaging Het
Telo2 A T 17: 25,323,628 (GRCm39) F600I probably damaging Het
Trim36 T A 18: 46,305,669 (GRCm39) H426L probably benign Het
Trpm6 A T 19: 18,787,016 (GRCm39) N531Y possibly damaging Het
Ttc39a T C 4: 109,299,920 (GRCm39) C470R probably damaging Het
Ttn C T 2: 76,615,283 (GRCm39) E8485K probably damaging Het
Ubr4 A T 4: 139,196,122 (GRCm39) I1253F probably damaging Het
Unc79 A T 12: 103,088,688 (GRCm39) H1724L possibly damaging Het
Vmn1r40 T A 6: 89,691,998 (GRCm39) C89S probably benign Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G 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
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
R1766:Scube1 UTSW 15 83,606,146 (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
Posted On 2015-04-16