Incidental Mutation 'R1735:Scube1'
ID 199677
Institutional Source Beutler Lab
Gene Symbol Scube1
Ensembl Gene ENSMUSG00000016763
Gene Name signal peptide, CUB domain, EGF-like 1
Synonyms 7330410C13Rik, A630023E24Rik
MMRRC Submission 039767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R1735 (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 C at 83491638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 952 (H952R)
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: H982R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000016907
Gene: ENSMUSG00000016763
AA Change: H982R

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: H871R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044835
Gene: ENSMUSG00000016763
AA Change: H871R

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: H956R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075434
Gene: ENSMUSG00000016763
AA Change: H956R

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: H952R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130131
Gene: ENSMUSG00000016763
AA Change: H952R

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: ENSMUST00000230060
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 97.0%
  • 10x: 95.3%
  • 20x: 92.1%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A T 12: 84,122,261 (GRCm39) I282F probably benign Het
Adam19 C A 11: 46,029,744 (GRCm39) Q730K probably benign Het
Adgrv1 A G 13: 81,636,066 (GRCm39) V3481A possibly damaging Het
Akr1c20 T C 13: 4,537,207 (GRCm39) D316G probably benign Het
Ap3b1 G A 13: 94,630,225 (GRCm39) V827I unknown Het
Aph1a T A 3: 95,802,821 (GRCm39) D140E probably damaging Het
Arhgef19 G T 4: 140,976,929 (GRCm39) V502L possibly damaging Het
Arl9 T C 5: 77,154,473 (GRCm39) F67S probably damaging Het
B430305J03Rik G A 3: 61,271,361 (GRCm39) probably benign Het
B4galnt2 A G 11: 95,781,809 (GRCm39) F119L probably damaging Het
Bcap29 T A 12: 31,680,839 (GRCm39) N49I probably damaging Het
Capn11 T A 17: 45,943,327 (GRCm39) K616* probably null Het
Cdh12 T A 15: 21,520,452 (GRCm39) Y306N probably damaging Het
Cep350 T A 1: 155,828,960 (GRCm39) N315Y probably damaging Het
Cfap300 A C 9: 8,027,266 (GRCm39) S91A probably benign Het
Cited2 C A 10: 17,599,794 (GRCm39) P34Q probably damaging Het
Cmya5 A T 13: 93,226,297 (GRCm39) D2930E probably benign Het
Cog3 T A 14: 75,966,761 (GRCm39) K470* probably null Het
Commd10 A G 18: 47,123,552 (GRCm39) T136A probably benign Het
Csf2ra C A 19: 61,214,782 (GRCm39) D181Y probably damaging Het
Csmd1 T A 8: 15,982,610 (GRCm39) I2686F probably damaging Het
Dhx29 T C 13: 113,081,620 (GRCm39) S415P probably benign Het
Dsel A T 1: 111,788,645 (GRCm39) F630Y probably damaging Het
Ell T A 8: 71,031,590 (GRCm39) I96N possibly damaging Het
Ephx2 T A 14: 66,325,752 (GRCm39) I358L probably benign Het
Fam162b A G 10: 51,463,307 (GRCm39) I120T probably damaging Het
Fam187a T C 11: 102,776,606 (GRCm39) Y137H probably damaging Het
Fastk T C 5: 24,646,801 (GRCm39) E403G probably damaging Het
Fcrlb C A 1: 170,734,901 (GRCm39) V409F probably benign Het
Flot2 G T 11: 77,948,831 (GRCm39) A269S probably benign Het
Gpd2 T A 2: 57,245,563 (GRCm39) N419K probably damaging Het
Hecw1 A T 13: 14,552,350 (GRCm39) M61K probably null Het
Htr2a T C 14: 74,943,568 (GRCm39) F383L probably damaging Het
Kctd6 C T 14: 8,222,253 (GRCm38) R32C probably damaging Het
Khdc1a A G 1: 21,421,189 (GRCm39) T125A probably benign Het
Klhl40 T C 9: 121,609,004 (GRCm39) S390P probably benign Het
Lonp1 G A 17: 56,921,956 (GRCm39) T808I probably damaging Het
Loxhd1 A C 18: 77,492,585 (GRCm39) D1342A probably damaging Het
Lrat T C 3: 82,804,417 (GRCm39) I187V probably benign Het
Lrif1 T C 3: 106,643,162 (GRCm39) *238Q probably null Het
Lrp2bp T C 8: 46,465,025 (GRCm39) F48S probably benign Het
Mafg A G 11: 120,520,504 (GRCm39) M32T possibly damaging Het
Map4 C T 9: 109,864,023 (GRCm39) T416I probably benign Het
N4bp2 T C 5: 65,965,659 (GRCm39) F1236S probably damaging Het
Nfatc3 A G 8: 106,810,466 (GRCm39) D414G probably damaging Het
Nhsl3 G T 4: 129,117,370 (GRCm39) S476R probably damaging Het
Nrip2 T G 6: 128,382,037 (GRCm39) V50G probably damaging Het
Or10aa3 A T 1: 173,878,365 (GRCm39) K142I probably benign Het
Or10j5 A G 1: 172,784,374 (GRCm39) N4S probably benign Het
Or52ae7 T A 7: 103,119,353 (GRCm39) F36I possibly damaging Het
Or5b24 T A 19: 12,912,207 (GRCm39) I35N probably damaging Het
Pcdhb18 A T 18: 37,623,822 (GRCm39) H384L probably benign Het
Pik3r1 A T 13: 101,822,882 (GRCm39) Y607N probably damaging Het
Plagl2 G A 2: 153,074,397 (GRCm39) T168I probably damaging Het
Polr2a A G 11: 69,633,222 (GRCm39) S912P probably damaging Het
Ppp1r16b A G 2: 158,603,415 (GRCm39) K447E possibly damaging Het
Prkd1 T C 12: 50,388,822 (GRCm39) E907G possibly damaging Het
Rabep2 A G 7: 126,043,712 (GRCm39) R470G probably damaging Het
Rasal2 T C 1: 157,001,730 (GRCm39) Y518C probably damaging Het
Rbmxl1 A G 8: 79,232,711 (GRCm39) Y211H probably damaging Het
Rdh7 T C 10: 127,720,454 (GRCm39) Y306C probably benign Het
Rtn3 T C 19: 7,435,276 (GRCm39) I220V probably damaging Het
Scn8a A G 15: 100,913,742 (GRCm39) N1045D possibly damaging Het
Sf3b1 A G 1: 55,039,811 (GRCm39) I690T probably damaging Het
Sharpin T C 15: 76,232,136 (GRCm39) K240R probably benign Het
Skint5 A G 4: 113,420,656 (GRCm39) I1108T unknown Het
Snip1 A G 4: 124,964,994 (GRCm39) D133G probably benign Het
St3gal3 T C 4: 117,871,971 (GRCm39) Y77C probably damaging Het
Sytl3 T C 17: 6,982,880 (GRCm39) V112A probably benign Het
Tnxb C T 17: 34,936,944 (GRCm39) P3718S probably damaging Het
Ttc24 A T 3: 87,980,401 (GRCm39) probably null Het
Ubr3 A T 2: 69,839,473 (GRCm39) E1529V probably damaging Het
Utrn T A 10: 12,585,882 (GRCm39) H965L probably benign Het
Xrn2 T A 2: 146,903,343 (GRCm39) L781Q probably damaging Het
Zbtb11 T C 16: 55,811,045 (GRCm39) I401T probably benign Het
Zc3h14 C T 12: 98,724,839 (GRCm39) P167L probably damaging Het
Zfp609 G T 9: 65,610,374 (GRCm39) S863* probably null 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
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'- TGCTGTGAAGGGAAGGCACATTC -3'
(R):5'- TGTAGTGGACACTGGCTCATCCTC -3'

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