Incidental Mutation 'IGL03393:Sbno2'
ID421152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sbno2
Ensembl Gene ENSMUSG00000035673
Gene Namestrawberry notch 2
SynonymsStno
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.395) question?
Stock #IGL03393
Quality Score
Status
Chromosome10
Chromosomal Location80056992-80105571 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 80066901 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 414 (R414W)
Ref Sequence ENSEMBL: ENSMUSP00000151449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000217972] [ENSMUST00000218630] [ENSMUST00000219258] [ENSMUST00000219260]
Predicted Effect probably damaging
Transcript: ENSMUST00000042771
AA Change: R430W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: R430W

DomainStartEndE-ValueType
low complexity region 96 112 N/A INTRINSIC
low complexity region 177 189 N/A INTRINSIC
Pfam:AAA_34 209 500 8.2e-135 PFAM
Pfam:ResIII 239 419 7.7e-8 PFAM
low complexity region 611 631 N/A INTRINSIC
Pfam:Helicase_C_4 726 1004 7.5e-120 PFAM
low complexity region 1263 1283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217876
Predicted Effect probably damaging
Transcript: ENSMUST00000217972
AA Change: R414W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218462
Predicted Effect probably damaging
Transcript: ENSMUST00000218630
AA Change: R430W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000219258
Predicted Effect probably damaging
Transcript: ENSMUST00000219260
AA Change: R430W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired osteoclast fusion, impaired osteoblastogenesis, osteopetrosis, increased bone mass, and decreased body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,074,038 probably benign Het
Adamts5 G T 16: 85,868,195 S627Y probably damaging Het
Allc G A 12: 28,560,011 R196C probably damaging Het
Ccdc65 A C 15: 98,720,687 E241A probably benign Het
Dclk3 T C 9: 111,488,673 probably benign Het
Fzd4 T C 7: 89,407,297 V184A probably benign Het
Gfap T A 11: 102,893,257 probably null Het
Gpr149 A G 3: 62,603,945 V211A probably benign Het
Gprc6a A G 10: 51,615,259 I623T probably damaging Het
Gucy2c T C 6: 136,719,667 T687A probably benign Het
Kcnc4 T G 3: 107,447,927 M402L possibly damaging Het
Ktn1 T C 14: 47,690,934 L584S probably damaging Het
Mrgprb2 C T 7: 48,552,902 S25N probably benign Het
Muc5b T A 7: 141,864,138 V3607E probably benign Het
Olfr48 C A 2: 89,844,569 V135L probably benign Het
Olfr803 T C 10: 129,691,278 I254M probably damaging Het
Otx2 A G 14: 48,661,324 I75T probably damaging Het
Pabpc4l T C 3: 46,446,537 D224G probably damaging Het
Peg3 A T 7: 6,707,649 C1525S probably damaging Het
Polq A T 16: 37,044,794 L669F probably damaging Het
Prss40 A C 1: 34,558,101 V122G probably damaging Het
Rims2 A G 15: 39,462,613 probably null Het
Rrp12 A T 19: 41,871,793 M997K possibly damaging Het
Scn1a T C 2: 66,318,018 D41G probably benign Het
Serpinb1c A T 13: 32,882,061 D300E probably damaging Het
Timeless G A 10: 128,252,055 D1165N probably damaging Het
Tnpo1 T G 13: 98,888,473 K66N probably damaging Het
Trappc11 A T 8: 47,510,877 N629K possibly damaging Het
Ubr4 T A 4: 139,452,678 L255M probably damaging Het
Vmn1r10 T A 6: 57,114,057 Y211* probably null Het
Vmn2r76 T G 7: 86,229,826 N422T probably benign Het
Xylt1 C A 7: 117,593,713 N415K probably damaging Het
Zfp786 A T 6: 47,821,524 V160E possibly damaging Het
Other mutations in Sbno2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Sbno2 APN 10 80064506 splice site probably benign
IGL01773:Sbno2 APN 10 80057831 missense probably damaging 1.00
IGL01869:Sbno2 APN 10 80060392 critical splice donor site probably null
IGL01911:Sbno2 APN 10 80069624 nonsense probably null
IGL02071:Sbno2 APN 10 80060641 missense probably damaging 1.00
IGL02094:Sbno2 APN 10 80057645 missense probably benign
IGL02220:Sbno2 APN 10 80072368 missense probably benign 0.04
IGL02366:Sbno2 APN 10 80064202 missense probably damaging 1.00
IGL02608:Sbno2 APN 10 80067402 splice site probably null
IGL03007:Sbno2 APN 10 80058550 splice site probably benign
IGL03083:Sbno2 APN 10 80057534 missense probably damaging 0.98
R0034:Sbno2 UTSW 10 80058340 splice site probably benign
R0126:Sbno2 UTSW 10 80068853 splice site probably null
R0652:Sbno2 UTSW 10 80067294 missense probably damaging 1.00
R0964:Sbno2 UTSW 10 80084259 missense possibly damaging 0.75
R1571:Sbno2 UTSW 10 80060392 critical splice donor site probably null
R1601:Sbno2 UTSW 10 80060492 missense probably damaging 0.98
R1634:Sbno2 UTSW 10 80060634 missense possibly damaging 0.73
R1733:Sbno2 UTSW 10 80058508 missense possibly damaging 0.92
R1762:Sbno2 UTSW 10 80066606 missense probably damaging 1.00
R1832:Sbno2 UTSW 10 80060605 nonsense probably null
R1859:Sbno2 UTSW 10 80058639 nonsense probably null
R2086:Sbno2 UTSW 10 80057856 missense possibly damaging 0.89
R2136:Sbno2 UTSW 10 80062693 missense probably damaging 1.00
R2360:Sbno2 UTSW 10 80058021 missense possibly damaging 0.81
R4426:Sbno2 UTSW 10 80072358 missense probably null 0.02
R4504:Sbno2 UTSW 10 80060492 missense possibly damaging 0.46
R4692:Sbno2 UTSW 10 80086327 missense possibly damaging 0.90
R5044:Sbno2 UTSW 10 80062188 missense probably benign 0.11
R5166:Sbno2 UTSW 10 80066928 nonsense probably null
R5576:Sbno2 UTSW 10 80067337 missense probably damaging 0.99
R5665:Sbno2 UTSW 10 80058453 missense probably benign 0.00
R5709:Sbno2 UTSW 10 80086337 start codon destroyed probably null 0.89
R5828:Sbno2 UTSW 10 80066590 missense possibly damaging 0.84
R6192:Sbno2 UTSW 10 80060016 missense probably damaging 0.99
R6971:Sbno2 UTSW 10 80060034 missense possibly damaging 0.95
R7012:Sbno2 UTSW 10 80069518 intron probably benign
R7082:Sbno2 UTSW 10 80060090 splice site probably null
R7133:Sbno2 UTSW 10 80086312 missense probably damaging 1.00
R7438:Sbno2 UTSW 10 80069575 missense unknown
R7481:Sbno2 UTSW 10 80057499 missense probably benign 0.11
R7746:Sbno2 UTSW 10 80058874 missense probably damaging 0.99
R7964:Sbno2 UTSW 10 80068351 missense probably damaging 1.00
R8055:Sbno2 UTSW 10 80069431 missense possibly damaging 0.81
R8221:Sbno2 UTSW 10 80070011 missense probably benign
R8329:Sbno2 UTSW 10 80064387 missense probably damaging 1.00
X0026:Sbno2 UTSW 10 80057459 missense possibly damaging 0.74
Posted On2016-08-02