Incidental Mutation 'R1522:Scube1'
ID 167566
Institutional Source Beutler Lab
Gene Symbol Scube1
Ensembl Gene ENSMUSG00000016763
Gene Name signal peptide, CUB domain, EGF-like 1
Synonyms 7330410C13Rik, A630023E24Rik
MMRRC Submission 040871-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R1522 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 83489200-83609222 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 83512277 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 null
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 null
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 null
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 null
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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,139,568 (GRCm39) S498P probably damaging Het
3100002H09Rik A G 4: 124,504,487 (GRCm39) W22R probably damaging Het
AA986860 A G 1: 130,670,831 (GRCm39) E351G probably damaging Het
Acsl5 T C 19: 55,268,924 (GRCm39) V195A probably benign Het
Actmap A G 7: 26,902,105 (GRCm39) H244R probably damaging Het
Adamts10 A G 17: 33,756,293 (GRCm39) D312G probably benign Het
Adgrb1 A G 15: 74,452,466 (GRCm39) M211V probably damaging Het
Ankfy1 C T 11: 72,646,693 (GRCm39) R859* probably null Het
Atp8b1 T A 18: 64,683,503 (GRCm39) I742L probably benign Het
B3galnt2 T A 13: 14,145,354 (GRCm39) V89E probably damaging Het
Brinp3 A C 1: 146,777,628 (GRCm39) T692P probably damaging Het
C9 T A 15: 6,516,243 (GRCm39) F349I probably damaging Het
Cacna1a T A 8: 85,360,062 (GRCm39) M1976K probably benign Het
Castor2 T G 5: 134,154,726 (GRCm39) S43R probably damaging Het
Ccdc180 T C 4: 45,927,975 (GRCm39) V1170A possibly damaging Het
Celsr1 A G 15: 85,815,477 (GRCm39) V1846A probably benign Het
Ces1f A T 8: 93,998,517 (GRCm39) Y160N possibly damaging Het
Cfap45 A G 1: 172,368,139 (GRCm39) E377G probably damaging Het
Clca3a1 T A 3: 144,460,932 (GRCm39) M240L probably benign Het
Clnk G A 5: 38,952,309 (GRCm39) T10M probably damaging Het
Cntrl T A 2: 35,045,291 (GRCm39) I781K possibly damaging Het
Col11a2 G A 17: 34,274,228 (GRCm39) G375S probably damaging Het
Col6a5 T A 9: 105,817,193 (GRCm39) I373F unknown Het
Dmxl1 C T 18: 49,985,434 (GRCm39) A227V probably benign Het
Dok5 A G 2: 170,574,052 (GRCm39) N4D probably benign Het
Dpysl3 A T 18: 43,496,622 (GRCm39) V138D probably damaging Het
Efs A T 14: 55,157,172 (GRCm39) Y380N probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Farp2 A G 1: 93,546,275 (GRCm39) Q855R possibly damaging Het
Fcrl2 A C 3: 87,164,014 (GRCm39) S372A possibly damaging Het
Gadl1 C T 9: 115,773,297 (GRCm39) A113V probably damaging Het
Gda T A 19: 21,389,903 (GRCm39) E219D probably benign Het
Gli1 A T 10: 127,168,446 (GRCm39) M469K probably damaging Het
Gm4847 A T 1: 166,469,219 (GRCm39) S148R probably damaging Het
Golga2 T C 2: 32,192,216 (GRCm39) V325A probably benign Het
Hpf1 A G 8: 61,349,783 (GRCm39) D137G probably damaging Het
Htr2a C G 14: 74,943,293 (GRCm39) S291* probably null Het
Itga5 G A 15: 103,265,209 (GRCm39) Q233* probably null Het
Jazf1 C A 6: 52,789,168 (GRCm39) R102L probably damaging Het
Kif6 T G 17: 50,021,141 (GRCm39) L322R probably damaging Het
Ktn1 A C 14: 47,904,873 (GRCm39) K217T probably damaging Het
Lig4 A T 8: 10,023,012 (GRCm39) V256E possibly damaging Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Lrp1 A T 10: 127,411,155 (GRCm39) D1399E probably benign Het
Mmel1 A G 4: 154,979,443 (GRCm39) E717G probably damaging Het
Mndal G T 1: 173,699,032 (GRCm39) P155H possibly damaging Het
Mycbpap A G 11: 94,402,449 (GRCm39) probably null Het
Nedd1 T C 10: 92,555,476 (GRCm39) E3G probably damaging Het
Nlgn1 A T 3: 25,490,073 (GRCm39) N551K probably damaging Het
Nup210 G A 6: 91,046,148 (GRCm39) P595L possibly damaging Het
Or2ag15 A G 7: 106,340,212 (GRCm39) C310R probably benign Het
Or2g25 A T 17: 37,970,661 (GRCm39) C188S probably damaging Het
Or4k52 A T 2: 111,610,693 (GRCm39) probably null Het
Or5ac17 T G 16: 59,036,347 (GRCm39) T210P probably damaging Het
Or5p56 A G 7: 107,589,740 (GRCm39) H56R probably benign Het
Pank3 G A 11: 35,672,508 (GRCm39) V304M probably benign Het
Phf3 G A 1: 30,844,729 (GRCm39) T1410I probably benign Het
Ppm1k A G 6: 57,502,142 (GRCm39) I7T possibly damaging Het
Ppp1r12c T C 7: 4,500,424 (GRCm39) D73G probably damaging Het
Prelid2 T G 18: 42,014,332 (GRCm39) M165L probably benign Het
Prkd3 A C 17: 79,260,125 (GRCm39) L826R probably damaging Het
Ptchd4 A T 17: 42,814,433 (GRCm39) N778I probably damaging Het
Ptprm T C 17: 67,000,866 (GRCm39) D1063G possibly damaging Het
Rab27a C A 9: 72,982,764 (GRCm39) T23N probably damaging Het
Rasgrf2 A T 13: 92,044,205 (GRCm39) F949L probably benign Het
Rbm33 A G 5: 28,542,002 (GRCm39) N68D probably damaging Het
Rgl1 A T 1: 152,462,284 (GRCm39) L109Q probably damaging Het
Rnf20 A G 4: 49,638,197 (GRCm39) N103S possibly damaging Het
Sbno1 G A 5: 124,530,675 (GRCm39) L875F probably damaging Het
Selenbp1 G A 3: 94,844,669 (GRCm39) V109M probably damaging Het
Serpina3c T A 12: 104,117,805 (GRCm39) I178F probably damaging Het
Shisa8 C T 15: 82,092,702 (GRCm39) G63D probably damaging Het
Snx14 T C 9: 88,284,277 (GRCm39) R464G possibly damaging Het
Snx25 A T 8: 46,577,119 (GRCm39) M1K probably null Het
Sorcs3 C A 19: 48,694,448 (GRCm39) T574K possibly damaging Het
Syne2 A G 12: 76,150,557 (GRCm39) E6528G probably damaging Het
Syt5 T C 7: 4,543,245 (GRCm39) E338G probably damaging Het
Tbk1 T C 10: 121,387,223 (GRCm39) K691E probably benign Het
Tenm3 G A 8: 48,848,611 (GRCm39) T11I probably damaging Het
Thrb A G 14: 18,002,597 (GRCm38) H87R probably damaging Het
Tlr4 T A 4: 66,757,933 (GRCm39) M242K possibly damaging Het
Tm4sf19 T C 16: 32,224,820 (GRCm39) M56T possibly damaging Het
Tmem212 T A 3: 27,940,620 (GRCm39) R66* probably null Het
Tmem39b G T 4: 129,578,275 (GRCm39) D315E probably benign Het
Tnxb T C 17: 34,937,612 (GRCm39) F3834L probably damaging Het
Trim36 A T 18: 46,319,250 (GRCm39) L225* probably null Het
Trim42 A T 9: 97,247,732 (GRCm39) H321Q probably damaging Het
Trio G T 15: 27,732,726 (GRCm39) Q3052K probably benign Het
Trpm3 T C 19: 22,955,698 (GRCm39) I1091T probably benign Het
Tst T C 15: 78,284,143 (GRCm39) E228G possibly damaging Het
Ttn T C 2: 76,702,060 (GRCm39) probably benign Het
Uap1 A C 1: 169,978,510 (GRCm39) probably null Het
Ush2a T C 1: 188,530,011 (GRCm39) S3267P possibly damaging Het
Usp5 T C 6: 124,802,129 (GRCm39) T38A probably benign Het
Uvssa A T 5: 33,545,152 (GRCm39) Q84L probably damaging Het
Vmn1r159 T G 7: 22,542,693 (GRCm39) H113P probably damaging Het
Vps13d A T 4: 144,824,742 (GRCm39) probably null Het
Zfp182 T A X: 20,897,799 (GRCm39) I166L probably benign Het
Zfp811 A T 17: 33,016,622 (GRCm39) Y472N probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CTCGATGTCAAAGACCTCAGGTGTG -3'
(R):5'- GTGACTTCTTTCAGACTGGTGCCC -3'

Sequencing Primer
(F):5'- gccagggctatacagagaaac -3'
(R):5'- AGACTGGTGCCCACTATCC -3'
Posted On 2014-04-13