Incidental Mutation 'IGL02728:Scube1'
ID305354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scube1
Ensembl Gene ENSMUSG00000016763
Gene Namesignal peptide, CUB domain, EGF-like 1
Synonyms7330410C13Rik, A630023E24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL02728
Quality Score
Status
Chromosome15
Chromosomal Location83604999-83725021 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 83659016 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016907] [ENSMUST00000043634] [ENSMUST00000076060] [ENSMUST00000171496]
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: 90,191,827 probably benign Het
Als2 A G 1: 59,196,347 V726A probably benign Het
Apba1 G A 19: 23,944,905 G779E possibly damaging Het
Atr T A 9: 95,936,475 V2167E probably damaging Het
Bod1l T C 5: 41,826,503 K566E probably damaging Het
Btd T C 14: 31,667,362 F347L probably benign Het
Btg2 T C 1: 134,078,905 probably benign Het
Cblb T A 16: 52,183,309 S717T probably benign Het
Cep250 T A 2: 155,983,278 probably benign Het
Cep350 T C 1: 155,953,222 N312S probably benign Het
Clasp1 A T 1: 118,602,377 T1490S probably damaging Het
Col7a1 T A 9: 108,984,104 C2906S probably benign Het
Csmd1 C T 8: 15,999,779 probably null Het
Cspg4 T A 9: 56,886,481 V500E probably damaging Het
Cyp7b1 T A 3: 18,072,575 D469V probably damaging Het
Dhh A T 15: 98,894,311 probably null Het
Dhrs3 A G 4: 144,920,072 R231G probably damaging Het
Disp3 A G 4: 148,272,038 S122P probably damaging Het
Dnah1 T C 14: 31,283,998 I2275V probably benign Het
Dock8 A C 19: 25,132,220 N922T probably benign Het
Eef1d A G 15: 75,903,096 L154P probably damaging Het
Eif4ebp1 C A 8: 27,273,482 P101Q possibly damaging Het
Eif4g1 T G 16: 20,686,752 probably benign Het
Emb A G 13: 117,232,765 M50V probably benign Het
Eml4 T C 17: 83,473,139 probably null Het
Fkbp10 G T 11: 100,415,977 R65L probably damaging Het
Gm10436 G T 12: 88,176,022 H275Q probably benign Het
Gm5878 T C 6: 85,118,592 N83S probably benign Het
Gm8165 C T 14: 43,676,237 A57T unknown Het
Gpr179 A G 11: 97,337,900 V1143A probably damaging Het
Hat1 T C 2: 71,421,260 Y218H probably damaging Het
Hfm1 T A 5: 106,878,823 N885I probably benign Het
Inha T C 1: 75,509,447 S129P probably damaging Het
Ints9 T C 14: 64,993,008 I128T probably damaging Het
Klra9 T C 6: 130,191,186 probably null Het
Lrba A G 3: 86,776,049 E2726G probably damaging Het
Lrp1b T C 2: 40,801,398 N3356D probably benign Het
Map3k5 A G 10: 20,118,292 D1008G possibly damaging Het
Med4 T A 14: 73,517,975 L241Q possibly damaging Het
Mtch1 A G 17: 29,338,742 V254A possibly damaging Het
Napg C T 18: 62,994,304 probably benign Het
Olfr173 C T 16: 58,797,480 R122H probably benign Het
Olfr339 T C 2: 36,422,144 S249P possibly damaging Het
Olfr823 T A 10: 130,112,618 R57S probably damaging Het
Olfr853 A G 9: 19,537,846 F28S possibly damaging Het
Olfr924 T C 9: 38,848,926 S271P probably damaging Het
Pias1 T A 9: 62,923,644 S161C probably damaging Het
Pias1 G T 9: 62,923,645 N160K possibly damaging Het
Pigp G A 16: 94,367,607 P37S probably damaging Het
Pik3c2b T A 1: 133,092,327 V1070E probably benign Het
Prepl T C 17: 85,070,582 T457A probably damaging Het
Psg23 G A 7: 18,606,928 A467V probably benign Het
Rad54l T C 4: 116,122,949 R13G probably benign Het
Rassf5 T C 1: 131,180,599 D248G probably damaging Het
Rspo1 A G 4: 125,005,162 N92S probably damaging Het
Sec31b C A 19: 44,523,115 V616F probably damaging Het
Sema3a T C 5: 13,565,914 V435A probably damaging Het
Slc7a10 T A 7: 35,197,698 I208N probably damaging Het
Stab2 A T 10: 86,856,556 M2151K possibly damaging Het
Tacc1 T C 8: 25,175,219 D50G probably damaging Het
Tas2r121 G T 6: 132,700,517 T164N probably damaging Het
Tatdn2 T C 6: 113,704,715 W570R probably damaging Het
Telo2 A T 17: 25,104,654 F600I probably damaging Het
Trim36 T A 18: 46,172,602 H426L probably benign Het
Trpm6 A T 19: 18,809,652 N531Y possibly damaging Het
Ttc30a1 T A 2: 75,980,849 M297L probably benign Het
Ttc39a T C 4: 109,442,723 C470R probably damaging Het
Ttn C T 2: 76,784,939 E8485K probably damaging Het
Ubr4 A T 4: 139,468,811 I1253F probably damaging Het
Unc79 A T 12: 103,122,429 H1724L possibly damaging Het
Vmn1r40 T A 6: 89,715,016 C89S probably benign Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Scube1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Scube1 APN 15 83703501 missense probably damaging 0.98
IGL01152:Scube1 APN 15 83613570 missense probably damaging 1.00
IGL01388:Scube1 APN 15 83620131 missense probably benign 0.00
IGL01589:Scube1 APN 15 83612553 missense probably damaging 1.00
IGL02208:Scube1 APN 15 83703540 missense probably damaging 1.00
IGL02305:Scube1 APN 15 83607390 missense probably damaging 1.00
IGL02737:Scube1 APN 15 83721843 splice site probably benign
IGL03326:Scube1 APN 15 83607416 missense probably damaging 1.00
R0055:Scube1 UTSW 15 83634736 missense probably damaging 1.00
R0055:Scube1 UTSW 15 83634736 missense probably damaging 1.00
R0126:Scube1 UTSW 15 83621063 missense probably damaging 1.00
R0792:Scube1 UTSW 15 83628076 critical splice acceptor site probably null
R1438:Scube1 UTSW 15 83615026 missense possibly damaging 0.93
R1522:Scube1 UTSW 15 83628076 critical splice acceptor site probably null
R1735:Scube1 UTSW 15 83607437 missense probably damaging 1.00
R1766:Scube1 UTSW 15 83721945 missense probably damaging 1.00
R1778:Scube1 UTSW 15 83610204 missense probably damaging 1.00
R2975:Scube1 UTSW 15 83659098 missense probably damaging 0.99
R4080:Scube1 UTSW 15 83608747 missense probably damaging 1.00
R4434:Scube1 UTSW 15 83721924 missense probably damaging 1.00
R5585:Scube1 UTSW 15 83676923 missense probably damaging 1.00
R5857:Scube1 UTSW 15 83607260 unclassified probably benign
R5977:Scube1 UTSW 15 83629488 missense probably damaging 1.00
R6054:Scube1 UTSW 15 83651676 missense probably benign 0.43
R6461:Scube1 UTSW 15 83612427 missense probably damaging 1.00
R6956:Scube1 UTSW 15 83721876 missense probably damaging 1.00
R6959:Scube1 UTSW 15 83629435 missense probably benign 0.42
R7124:Scube1 UTSW 15 83629511 splice site probably null
R7267:Scube1 UTSW 15 83621065 missense probably damaging 1.00
R7404:Scube1 UTSW 15 83615010 missense probably damaging 0.98
X0022:Scube1 UTSW 15 83634669 critical splice donor site probably null
Posted On2015-04-16