Incidental Mutation 'IGL00094:Scube2'
ID 1453
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scube2
Ensembl Gene ENSMUSG00000007279
Gene Name signal peptide, CUB domain, EGF-like 2
Synonyms ICRFP703N2430Q5.1, 4932442O19Rik, Cegf1, ICRFP703B1614Q5.1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.509) question?
Stock # IGL00094
Quality Score
Status
Chromosome 7
Chromosomal Location 109798676-109865679 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109808454 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 760 (T760A)
Ref Sequence ENSEMBL: ENSMUSP00000102340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007423] [ENSMUST00000106728] [ENSMUST00000106729]
AlphaFold Q9JJS0
Predicted Effect probably damaging
Transcript: ENSMUST00000007423
AA Change: T789A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: T789A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EGF_CA 43 83 7.01e-10 SMART
EGF_CA 84 125 1.79e-7 SMART
EGF_CA 126 166 1.5e-9 SMART
EGF 174 212 2.19e-2 SMART
EGF 214 251 4.89e0 SMART
EGF 283 320 5.12e-3 SMART
EGF_CA 321 361 3.7e-9 SMART
EGF_CA 362 400 1.85e-9 SMART
EGF_CA 401 441 2.48e-10 SMART
low complexity region 479 490 N/A INTRINSIC
low complexity region 577 594 N/A INTRINSIC
Pfam:GCC2_GCC3 642 692 7.2e-19 PFAM
Pfam:GCC2_GCC3 699 746 2e-16 PFAM
Pfam:GCC2_GCC3 755 802 3.1e-18 PFAM
CUB 807 919 1.23e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106728
AA Change: T663A

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
AA Change: T663A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EGF_CA 43 83 7.01e-10 SMART
EGF_CA 84 125 1.79e-7 SMART
EGF_CA 126 166 1.5e-9 SMART
EGF 174 212 2.19e-2 SMART
EGF 214 251 4.89e0 SMART
EGF 283 320 5.12e-3 SMART
EGF_CA 321 361 3.7e-9 SMART
EGF_CA 362 400 1.85e-9 SMART
EGF_CA 401 441 2.48e-10 SMART
low complexity region 451 468 N/A INTRINSIC
Pfam:GCC2_GCC3 516 566 6.4e-17 PFAM
Pfam:GCC2_GCC3 573 620 3.5e-14 PFAM
Pfam:GCC2_GCC3 629 676 5.4e-16 PFAM
Blast:CUB 678 727 2e-25 BLAST
Blast:CUB 730 796 1e-37 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000106729
AA Change: T760A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: T760A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EGF_CA 43 83 7.01e-10 SMART
EGF_CA 84 125 1.79e-7 SMART
EGF_CA 126 166 1.5e-9 SMART
EGF 174 212 2.19e-2 SMART
EGF 214 251 4.89e0 SMART
EGF 283 320 5.12e-3 SMART
EGF_CA 321 361 3.7e-9 SMART
EGF_CA 362 400 1.85e-9 SMART
EGF_CA 401 441 2.48e-10 SMART
low complexity region 605 622 N/A INTRINSIC
Pfam:GCC2_GCC3 670 717 1.8e-16 PFAM
Pfam:GCC2_GCC3 726 773 2.7e-18 PFAM
CUB 778 890 1.23e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138946
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation are smaller than controls. Mice also exhibit defective endochondral bone formation and impaired Ihh-mediated chondrocyte differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik A G 11: 101,990,820 E114G possibly damaging Het
Aacs T A 5: 125,514,190 N547K probably benign Het
Abca13 A G 11: 9,297,443 T2397A probably benign Het
Abcc1 A G 16: 14,470,534 N1341S probably null Het
Adcy9 T A 16: 4,304,582 I535L probably benign Het
Akap6 A G 12: 53,140,980 S1726G possibly damaging Het
Ap3d1 T C 10: 80,741,979 M5V probably benign Het
Ash1l T A 3: 88,981,712 N299K probably benign Het
B3gnt2 C T 11: 22,836,151 V346I probably benign Het
Ceacam14 G A 7: 17,814,137 V51I probably damaging Het
Cfap69 T C 5: 5,584,682 D812G probably damaging Het
Chrna9 T C 5: 65,969,257 V118A probably benign Het
Cpsf7 A G 19: 10,539,787 R418G probably damaging Het
Csnk1g3 T C 18: 53,919,003 Y215H probably damaging Het
Dcaf5 A C 12: 80,339,323 N676K probably benign Het
Dld A T 12: 31,335,577 M255K probably benign Het
Esr2 A T 12: 76,133,896 L417H probably damaging Het
Fsip2 T A 2: 82,990,386 S5488T probably benign Het
Gatb A T 3: 85,601,920 I130L possibly damaging Het
Gbp9 T C 5: 105,081,264 K506E probably benign Het
Hkdc1 T C 10: 62,393,789 N703S probably damaging Het
Itgb3 T A 11: 104,633,584 V182E probably damaging Het
Itih4 A T 14: 30,895,469 Y582F probably damaging Het
Lancl2 T A 6: 57,724,537 probably benign Het
Lgals3 A G 14: 47,384,718 K197R probably benign Het
Lipe T C 7: 25,383,552 T767A probably damaging Het
Lrp2 T A 2: 69,507,779 D1219V probably damaging Het
Lrriq3 T A 3: 155,101,061 C116S probably benign Het
Mcm5 T G 8: 75,124,945 probably null Het
Mtpn G T 6: 35,522,776 T31K probably damaging Het
Mycbp2 A T 14: 103,223,050 Y1494N probably damaging Het
Nbeal1 G T 1: 60,235,191 E498* probably null Het
Nos1 T G 5: 117,910,100 S657A probably damaging Het
Nr3c1 A T 18: 39,428,608 probably null Het
Olfr1126 T A 2: 87,457,927 V254E probably damaging Het
Olfr1262 T A 2: 90,003,021 I205N possibly damaging Het
Olfr1502 A T 19: 13,861,786 probably benign Het
Olfr281 T G 15: 98,456,418 V36G possibly damaging Het
Olfr44 T C 9: 39,484,648 I202V probably benign Het
Olfr45 A T 7: 140,691,436 H177L probably damaging Het
Olfr851 T A 9: 19,496,859 I37N probably damaging Het
Osbp2 T G 11: 3,711,848 S735R probably benign Het
Otop3 A T 11: 115,344,453 T304S probably benign Het
Pcdhac2 A T 18: 37,145,075 L369F probably damaging Het
Pick1 T C 15: 79,247,257 probably benign Het
Prlhr A T 19: 60,467,681 V149E probably damaging Het
Prss12 G A 3: 123,486,949 probably benign Het
Rab19 A T 6: 39,388,198 probably benign Het
Ralgapb T C 2: 158,420,856 W5R probably damaging Het
Rfx4 T A 10: 84,840,199 L44Q probably damaging Het
Shcbp1 A C 8: 4,754,258 Y145* probably null Het
Snx31 T A 15: 36,545,616 probably null Het
Spopl A T 2: 23,537,631 V163E possibly damaging Het
Sqor T C 2: 122,787,543 I107T probably damaging Het
Tcte1 T C 17: 45,534,928 F153L probably damaging Het
Tnfrsf11b T A 15: 54,259,842 H121L probably damaging Het
Tnip1 G T 11: 54,940,817 Y10* probably null Het
Tnxb G T 17: 34,685,629 G1123C probably damaging Het
Wdr62 T C 7: 30,243,523 E515G probably benign Het
Zfand1 A T 3: 10,348,530 D32E probably null Het
Zfp112 A C 7: 24,122,243 T3P probably damaging Het
Other mutations in Scube2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:Scube2 APN 7 109843254 missense probably benign
IGL02080:Scube2 APN 7 109852478 missense probably damaging 1.00
PIT4445001:Scube2 UTSW 7 109809180 missense probably benign 0.22
R0020:Scube2 UTSW 7 109830888 splice site probably benign
R0020:Scube2 UTSW 7 109830888 splice site probably benign
R0106:Scube2 UTSW 7 109846908 splice site probably benign
R0230:Scube2 UTSW 7 109824764 critical splice donor site probably null
R0255:Scube2 UTSW 7 109824872 missense probably damaging 0.98
R0427:Scube2 UTSW 7 109824837 missense probably benign 0.00
R0612:Scube2 UTSW 7 109804764 splice site probably benign
R0658:Scube2 UTSW 7 109837120 splice site probably benign
R0687:Scube2 UTSW 7 109829128 missense possibly damaging 0.47
R1087:Scube2 UTSW 7 109831675 missense probably damaging 1.00
R1366:Scube2 UTSW 7 109804614 missense probably damaging 1.00
R1635:Scube2 UTSW 7 109843214 missense possibly damaging 0.90
R1797:Scube2 UTSW 7 109831675 missense probably damaging 1.00
R1972:Scube2 UTSW 7 109809214 missense probably benign 0.16
R2080:Scube2 UTSW 7 109808505 missense possibly damaging 0.77
R2254:Scube2 UTSW 7 109825459 missense possibly damaging 0.47
R2315:Scube2 UTSW 7 109804701 missense probably damaging 1.00
R2325:Scube2 UTSW 7 109843954 missense probably damaging 1.00
R3723:Scube2 UTSW 7 109808406 splice site probably benign
R3887:Scube2 UTSW 7 109843176 splice site probably benign
R3946:Scube2 UTSW 7 109857590 missense possibly damaging 0.81
R4030:Scube2 UTSW 7 109831771 missense probably benign 0.09
R4621:Scube2 UTSW 7 109800650 missense possibly damaging 0.63
R4684:Scube2 UTSW 7 109810713 missense probably damaging 0.96
R4736:Scube2 UTSW 7 109831205 missense probably benign 0.01
R5096:Scube2 UTSW 7 109799244 utr 3 prime probably benign
R5266:Scube2 UTSW 7 109809230 missense probably damaging 1.00
R5579:Scube2 UTSW 7 109810737 missense probably damaging 1.00
R5669:Scube2 UTSW 7 109825439 missense probably benign 0.04
R5838:Scube2 UTSW 7 109808444 missense probably damaging 1.00
R5916:Scube2 UTSW 7 109831724 missense possibly damaging 0.77
R6056:Scube2 UTSW 7 109833013 nonsense probably null
R6731:Scube2 UTSW 7 109810737 missense probably damaging 1.00
R6785:Scube2 UTSW 7 109810617 missense probably benign
R8197:Scube2 UTSW 7 109808477 missense possibly damaging 0.53
R8250:Scube2 UTSW 7 109864170 missense probably benign 0.20
R8273:Scube2 UTSW 7 109809176 missense probably benign 0.00
R8427:Scube2 UTSW 7 109800590 missense probably damaging 1.00
R8882:Scube2 UTSW 7 109852473 missense probably damaging 1.00
R9258:Scube2 UTSW 7 109799308 missense probably damaging 1.00
R9428:Scube2 UTSW 7 109829138 missense probably benign 0.32
R9476:Scube2 UTSW 7 109831762 missense probably damaging 1.00
R9510:Scube2 UTSW 7 109831762 missense probably damaging 1.00
R9709:Scube2 UTSW 7 109831764 missense probably damaging 1.00
Z1177:Scube2 UTSW 7 109838127 missense probably damaging 1.00
Z1177:Scube2 UTSW 7 109843201 missense probably damaging 1.00
Posted On 2011-07-12