Incidental Mutation 'IGL01911:Sbno2'
ID179794
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 #IGL01911
Quality Score
Status
Chromosome10
Chromosomal Location80056992-80105571 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 80069624 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 199 (Y199*)
Ref Sequence ENSEMBL: ENSMUSP00000151590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000217972] [ENSMUST00000218630] [ENSMUST00000219258] [ENSMUST00000219260]
Predicted Effect probably null
Transcript: ENSMUST00000042771
AA Change: Y199*
SMART Domains Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: Y199*

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 null
Transcript: ENSMUST00000217972
AA Change: Y125*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218462
Predicted Effect probably null
Transcript: ENSMUST00000218630
AA Change: Y199*
Predicted Effect probably benign
Transcript: ENSMUST00000219258
Predicted Effect probably null
Transcript: ENSMUST00000219260
AA Change: Y199*
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik A G 5: 107,508,580 H903R probably damaging Het
Aox3 T C 1: 58,152,560 F424L probably benign Het
Arhgap11a T C 2: 113,840,732 T301A probably damaging Het
Atp9a C A 2: 168,653,561 R575L probably damaging Het
Brca2 G A 5: 150,567,613 D3088N probably damaging Het
Brd3 G A 2: 27,459,800 T247I probably damaging Het
Cacna1i A G 15: 80,391,732 N1908S probably benign Het
Ccdc40 A T 11: 119,231,971 probably null Het
Cdyl T C 13: 35,863,243 V389A probably damaging Het
Col28a1 A G 6: 8,014,963 F814S probably damaging Het
Cstf3 T C 2: 104,646,631 F149S probably damaging Het
Dglucy T C 12: 100,838,525 Y122H probably damaging Het
Dram1 T C 10: 88,325,341 D222G probably damaging Het
Ets2 G A 16: 95,711,758 R96H probably damaging Het
Gm11563 T A 11: 99,658,701 R76* probably null Het
Gm17093 A C 14: 44,520,820 probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gpi1 A T 7: 34,220,922 V136D probably damaging Het
Hfm1 G A 5: 106,911,544 T204M possibly damaging Het
Itgae T C 11: 73,116,137 I403T probably damaging Het
Krt75 A T 15: 101,568,102 D409E probably damaging Het
Limk2 T G 11: 3,355,340 T76P probably benign Het
Mtus2 A T 5: 148,078,220 M608L probably benign Het
Obscn C A 11: 59,008,595 E979* probably null Het
Olfr598 T G 7: 103,329,273 F262L probably benign Het
P2rx7 C T 5: 122,658,768 A166V probably damaging Het
Pomgnt2 T C 9: 121,982,788 E309G probably benign Het
Pqlc2 A G 4: 139,301,073 V186A probably benign Het
Setd2 C A 9: 110,617,431 probably null Het
Vmn2r84 T A 10: 130,386,408 I648F probably damaging Het
Vrtn C T 12: 84,650,206 R577W probably benign Het
Znhit6 A G 3: 145,578,098 probably benign 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
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
IGL03393:Sbno2 APN 10 80066901 missense probably damaging 1.00
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 On2014-05-07