Incidental Mutation 'IGL03083:Sbno2'
ID 417963
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 # IGL03083
Quality Score
Status
Chromosome 10
Chromosomal Location 79892826-79941405 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79893368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1311 (M1311K)
Ref Sequence ENSEMBL: ENSMUSP00000151590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000097227] [ENSMUST00000105372] [ENSMUST00000219260] [ENSMUST00000183037] [ENSMUST00000217972] [ENSMUST00000218630]
AlphaFold Q7TNB8
Predicted Effect probably damaging
Transcript: ENSMUST00000042771
AA Change: M1311K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: M1311K

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: ENSMUST00000219260
AA Change: M1311K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000183037
SMART Domains Protein: ENSMUSP00000138186
Gene: ENSMUSG00000075706

DomainStartEndE-ValueType
Pfam:GSHPx 1 108 3.6e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217876
Predicted Effect probably benign
Transcript: ENSMUST00000217972
Predicted Effect probably benign
Transcript: ENSMUST00000218630
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T probably benign Het
Other mutations in Sbno2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Sbno2 APN 10 79,900,340 (GRCm39) splice site probably benign
IGL01773:Sbno2 APN 10 79,893,665 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02