Incidental Mutation 'IGL01773:Sbno2'
ID 153715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sbno2
Ensembl Gene ENSMUSG00000035673
Gene Name strawberry notch 2
Synonyms Stno
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01773
Quality Score
Status
Chromosome 10
Chromosomal Location 79892826-79941405 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79893665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1212 (V1212A)
Ref Sequence ENSEMBL: ENSMUSP00000151590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000097227] [ENSMUST00000105372] [ENSMUST00000218630] [ENSMUST00000219260] [ENSMUST00000183037] [ENSMUST00000217972]
AlphaFold Q7TNB8
Predicted Effect probably damaging
Transcript: ENSMUST00000042771
AA Change: V1212A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: V1212A

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 probably benign
Transcript: ENSMUST00000097227
SMART Domains Protein: ENSMUSP00000094863
Gene: ENSMUSG00000075706

DomainStartEndE-ValueType
low complexity region 2 55 N/A INTRINSIC
Pfam:GSHPx 97 204 6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105372
SMART Domains Protein: ENSMUSP00000101011
Gene: ENSMUSG00000075706

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:GSHPx 41 148 1.3e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154095
Predicted Effect probably damaging
Transcript: ENSMUST00000218630
AA Change: V1211A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000219260
AA Change: V1212A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217876
Predicted Effect probably benign
Transcript: ENSMUST00000183037
SMART Domains Protein: ENSMUSP00000138186
Gene: ENSMUSG00000075706

DomainStartEndE-ValueType
Pfam:GSHPx 1 108 3.6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217972
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1s C A 1: 136,046,491 (GRCm39) H1775Q probably benign Het
Calcrl A G 2: 84,200,787 (GRCm39) Y86H probably benign Het
Ccdc63 T C 5: 122,251,208 (GRCm39) K401E possibly damaging Het
Col9a1 A G 1: 24,244,147 (GRCm39) T127A probably benign Het
Cpq T A 15: 33,212,996 (GRCm39) F5Y probably benign Het
Cuzd1 T A 7: 130,916,614 (GRCm39) M282L probably damaging Het
Ddx10 C A 9: 53,115,430 (GRCm39) D635Y possibly damaging Het
Ect2l T C 10: 18,037,252 (GRCm39) D382G probably damaging Het
Ganc T C 2: 120,290,365 (GRCm39) S901P possibly damaging Het
Gpr179 G A 11: 97,232,192 (GRCm39) R671C probably benign Het
Isl2 T C 9: 55,451,504 (GRCm39) L219P probably damaging Het
Mfsd13a T C 19: 46,357,733 (GRCm39) S296P possibly damaging Het
Mtmr7 A T 8: 41,034,461 (GRCm39) L287Q probably damaging Het
Or11g25 T C 14: 50,723,230 (GRCm39) F105S probably damaging Het
Or52d13 T G 7: 103,110,221 (GRCm39) M60L possibly damaging Het
Or7a39 A G 10: 78,715,770 (GRCm39) T255A possibly damaging Het
Or8g28 A G 9: 39,169,830 (GRCm39) I46T probably damaging Het
Pik3c3 T A 18: 30,410,155 (GRCm39) F130I probably damaging Het
Rab3gap1 T A 1: 127,845,958 (GRCm39) S277R possibly damaging Het
Rassf9 A G 10: 102,381,494 (GRCm39) K290R probably benign Het
Rnaseh2a A T 8: 85,691,767 (GRCm39) V136D probably damaging Het
Rnf39 C T 17: 37,256,328 (GRCm39) S140L possibly damaging Het
Slc4a10 A T 2: 62,021,101 (GRCm39) I50F probably damaging Het
Slfn5 A T 11: 82,852,157 (GRCm39) E761V probably damaging Het
Sptlc1 A G 13: 53,531,334 (GRCm39) Y18H probably damaging Het
Tfam A G 10: 71,072,805 (GRCm39) M9T possibly damaging Het
Tmem186 A G 16: 8,453,841 (GRCm39) L140P probably damaging Het
Try4 A T 6: 41,281,960 (GRCm39) N182I probably damaging Het
Vmn1r209 C T 13: 22,990,450 (GRCm39) C80Y probably damaging Het
Vmn2r104 A T 17: 20,260,930 (GRCm39) S498T probably benign Het
Other mutations in Sbno2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Sbno2 APN 10 79,900,340 (GRCm39) splice site probably benign
IGL01869:Sbno2 APN 10 79,896,226 (GRCm39) critical splice donor site probably null
IGL01911:Sbno2 APN 10 79,905,458 (GRCm39) nonsense probably null
IGL02071:Sbno2 APN 10 79,896,475 (GRCm39) missense probably damaging 1.00
IGL02094:Sbno2 APN 10 79,893,479 (GRCm39) missense probably benign
IGL02220:Sbno2 APN 10 79,908,202 (GRCm39) missense probably benign 0.04
IGL02366:Sbno2 APN 10 79,900,036 (GRCm39) missense probably damaging 1.00
IGL02608:Sbno2 APN 10 79,903,236 (GRCm39) splice site probably null
IGL03007:Sbno2 APN 10 79,894,384 (GRCm39) splice site probably benign
IGL03083:Sbno2 APN 10 79,893,368 (GRCm39) missense probably damaging 0.98
IGL03393:Sbno2 APN 10 79,902,735 (GRCm39) missense probably damaging 1.00
Narcissus UTSW 10 79,898,042 (GRCm39) missense probably damaging 1.00
psychopomp UTSW 10 79,895,850 (GRCm39) missense probably damaging 0.99
Unsafe UTSW 10 79,896,049 (GRCm39) missense probably damaging 1.00
R0034:Sbno2 UTSW 10 79,894,174 (GRCm39) splice site probably benign
R0126:Sbno2 UTSW 10 79,904,687 (GRCm39) splice site probably null
R0652:Sbno2 UTSW 10 79,903,128 (GRCm39) missense probably damaging 1.00
R0964:Sbno2 UTSW 10 79,920,093 (GRCm39) missense possibly damaging 0.75
R1571:Sbno2 UTSW 10 79,896,226 (GRCm39) critical splice donor site probably null
R1601:Sbno2 UTSW 10 79,896,326 (GRCm39) missense probably damaging 0.98
R1634:Sbno2 UTSW 10 79,896,468 (GRCm39) missense possibly damaging 0.73
R1733:Sbno2 UTSW 10 79,894,342 (GRCm39) missense possibly damaging 0.92
R1762:Sbno2 UTSW 10 79,902,440 (GRCm39) missense probably damaging 1.00
R1832:Sbno2 UTSW 10 79,896,439 (GRCm39) nonsense probably null
R1859:Sbno2 UTSW 10 79,894,473 (GRCm39) nonsense probably null
R2086:Sbno2 UTSW 10 79,893,690 (GRCm39) missense possibly damaging 0.89
R2136:Sbno2 UTSW 10 79,898,527 (GRCm39) missense probably damaging 1.00
R2360:Sbno2 UTSW 10 79,893,855 (GRCm39) missense possibly damaging 0.81
R4426:Sbno2 UTSW 10 79,908,192 (GRCm39) missense probably null 0.02
R4504:Sbno2 UTSW 10 79,896,326 (GRCm39) missense possibly damaging 0.46
R4692:Sbno2 UTSW 10 79,922,161 (GRCm39) missense possibly damaging 0.90
R5044:Sbno2 UTSW 10 79,898,022 (GRCm39) missense probably benign 0.11
R5166:Sbno2 UTSW 10 79,902,762 (GRCm39) nonsense probably null
R5576:Sbno2 UTSW 10 79,903,171 (GRCm39) missense probably damaging 0.99
R5665:Sbno2 UTSW 10 79,894,287 (GRCm39) missense probably benign 0.00
R5709:Sbno2 UTSW 10 79,922,171 (GRCm39) start codon destroyed probably null 0.89
R5828:Sbno2 UTSW 10 79,902,424 (GRCm39) missense possibly damaging 0.84
R6192:Sbno2 UTSW 10 79,895,850 (GRCm39) missense probably damaging 0.99
R6971:Sbno2 UTSW 10 79,895,868 (GRCm39) missense possibly damaging 0.95
R7012:Sbno2 UTSW 10 79,905,352 (GRCm39) intron probably benign
R7082:Sbno2 UTSW 10 79,895,924 (GRCm39) splice site probably null
R7133:Sbno2 UTSW 10 79,922,146 (GRCm39) missense probably damaging 1.00
R7438:Sbno2 UTSW 10 79,905,409 (GRCm39) missense unknown
R7481:Sbno2 UTSW 10 79,893,333 (GRCm39) missense probably benign 0.11
R7746:Sbno2 UTSW 10 79,894,708 (GRCm39) missense probably damaging 0.99
R7964:Sbno2 UTSW 10 79,904,185 (GRCm39) missense probably damaging 1.00
R8055:Sbno2 UTSW 10 79,905,265 (GRCm39) missense possibly damaging 0.81
R8221:Sbno2 UTSW 10 79,905,845 (GRCm39) missense probably benign
R8329:Sbno2 UTSW 10 79,900,221 (GRCm39) missense probably damaging 1.00
R8725:Sbno2 UTSW 10 79,911,090 (GRCm39) missense probably benign 0.09
R8727:Sbno2 UTSW 10 79,911,090 (GRCm39) missense probably benign 0.09
R8840:Sbno2 UTSW 10 79,893,360 (GRCm39) missense probably damaging 0.97
R8932:Sbno2 UTSW 10 79,898,042 (GRCm39) missense probably damaging 1.00
R8954:Sbno2 UTSW 10 79,893,796 (GRCm39) missense probably damaging 1.00
R9003:Sbno2 UTSW 10 79,896,049 (GRCm39) missense probably damaging 1.00
R9034:Sbno2 UTSW 10 79,898,591 (GRCm39) missense probably damaging 1.00
X0026:Sbno2 UTSW 10 79,893,293 (GRCm39) missense possibly damaging 0.74
Posted On 2014-02-04