Incidental Mutation 'R0126:Sbno2'
ID 21386
Institutional Source Beutler Lab
Gene Symbol Sbno2
Ensembl Gene ENSMUSG00000035673
Gene Name strawberry notch 2
Synonyms Stno
MMRRC Submission 038411-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0126 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79892826-79941405 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to T at 79904687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000217972] [ENSMUST00000218630] [ENSMUST00000219260] [ENSMUST00000219258]
AlphaFold Q7TNB8
Predicted Effect probably null
Transcript: ENSMUST00000042771
SMART Domains Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218462
Predicted Effect probably null
Transcript: ENSMUST00000218630
Predicted Effect probably null
Transcript: ENSMUST00000219260
Predicted Effect probably benign
Transcript: ENSMUST00000219258
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.2%
  • 20x: 81.8%
Validation Efficiency 98% (102/104)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,333,742 (GRCm39) L1730P possibly damaging Het
Adam9 T C 8: 25,460,753 (GRCm39) N577S probably damaging Het
Add1 T C 5: 34,770,923 (GRCm39) Y316H probably benign Het
Agpat3 T C 10: 78,113,890 (GRCm39) D266G probably null Het
Aldh3a2 C A 11: 61,115,384 (GRCm39) Q524H probably benign Het
Alox12b A C 11: 69,058,297 (GRCm39) S550R probably benign Het
Ano4 T A 10: 88,788,154 (GRCm39) I753F possibly damaging Het
AW011738 T A 4: 156,288,104 (GRCm39) probably benign Het
B4galt3 C T 1: 171,103,738 (GRCm39) T103M probably damaging Het
Cabs1 C T 5: 88,128,054 (GRCm39) T235I probably damaging Het
Casq2 A G 3: 102,040,715 (GRCm39) H272R probably damaging Het
Ccdc180 T C 4: 45,912,866 (GRCm39) probably null Het
Cdh12 A T 15: 21,584,031 (GRCm39) M624L probably benign Het
Cdh5 A C 8: 104,867,314 (GRCm39) probably null Het
Col7a1 A G 9: 108,798,651 (GRCm39) probably benign Het
Cpne2 A T 8: 95,281,561 (GRCm39) I199F probably damaging Het
Crebbp A T 16: 3,901,927 (GRCm39) F2399L possibly damaging Het
Defb36 T C 2: 152,454,499 (GRCm39) C53R probably damaging Het
Degs1 T C 1: 182,107,257 (GRCm39) M1V probably null Het
Disp2 T A 2: 118,620,819 (GRCm39) F517Y probably damaging Het
Dnah5 A G 15: 28,246,465 (GRCm39) D601G probably benign Het
Dnpep G A 1: 75,289,182 (GRCm39) Q310* probably null Het
Dsg1a A G 18: 20,473,935 (GRCm39) T1003A probably benign Het
Fbrsl1 C G 5: 110,543,906 (GRCm39) probably benign Het
Foxh1 A T 15: 76,553,454 (GRCm39) L116H probably damaging Het
Gigyf2 G A 1: 87,339,597 (GRCm39) probably benign Het
Golm2 T C 2: 121,736,565 (GRCm39) probably benign Het
Gp1ba A T 11: 70,531,859 (GRCm39) probably benign Het
Gucy1b1 A G 3: 81,945,218 (GRCm39) probably benign Het
Gucy2g T G 19: 55,229,598 (GRCm39) D24A probably benign Het
Hirip3 A G 7: 126,462,614 (GRCm39) K190R probably damaging Het
Hmmr T C 11: 40,596,781 (GRCm39) N717D probably damaging Het
Il12b A T 11: 44,301,045 (GRCm39) Y187F probably damaging Het
Iqgap1 A G 7: 80,388,070 (GRCm39) I859T probably benign Het
Jmjd1c T C 10: 67,055,105 (GRCm39) L175P probably damaging Het
Klc2 T C 19: 5,162,774 (GRCm39) M242V possibly damaging Het
Klf3 T C 5: 64,979,446 (GRCm39) M96T probably benign Het
Lrrc66 G T 5: 73,764,431 (GRCm39) H871N probably benign Het
Ltn1 A T 16: 87,222,528 (GRCm39) D168E probably benign Het
Mak T C 13: 41,186,072 (GRCm39) D532G probably damaging Het
Marchf6 A G 15: 31,462,151 (GRCm39) M859T probably benign Het
Meak7 T C 8: 120,489,089 (GRCm39) D398G possibly damaging Het
Mlxipl C A 5: 135,161,177 (GRCm39) N365K probably damaging Het
Mplkip T C 13: 17,870,337 (GRCm39) S90P possibly damaging Het
Myo5c A T 9: 75,176,807 (GRCm39) H584L probably benign Het
Myt1l A G 12: 29,901,719 (GRCm39) T228A possibly damaging Het
Nxpe3 A T 16: 55,686,592 (GRCm39) Y139N possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or51f2 A G 7: 102,526,347 (GRCm39) T7A probably benign Het
Or8k40 T A 2: 86,584,981 (GRCm39) I34L probably damaging Het
Pak6 C T 2: 118,520,813 (GRCm39) S268F possibly damaging Het
Parp10 G A 15: 76,127,266 (GRCm39) A57V probably damaging Het
Pik3r3 T A 4: 116,113,465 (GRCm39) D69E probably damaging Het
Polr2a T G 11: 69,638,251 (GRCm39) K105T probably damaging Het
Prdm16 A T 4: 154,413,295 (GRCm39) probably benign Het
Prepl G A 17: 85,390,670 (GRCm39) T96I probably benign Het
Ret C T 6: 118,142,956 (GRCm39) probably benign Het
Rgl3 A T 9: 21,887,108 (GRCm39) D541E probably benign Het
Rpa1 A C 11: 75,209,355 (GRCm39) Y143D probably benign Het
Rps16 T A 7: 28,050,508 (GRCm39) L47Q probably damaging Het
Scube1 A T 15: 83,505,264 (GRCm39) N385K probably damaging Het
Shank2 A G 7: 143,585,092 (GRCm39) E31G probably damaging Het
Slc38a9 G T 13: 112,865,791 (GRCm39) C496F possibly damaging Het
Snap47 A G 11: 59,328,813 (GRCm39) V163A probably damaging Het
Sntg2 T C 12: 30,251,260 (GRCm39) probably benign Het
Sp7 C A 15: 102,266,895 (GRCm39) V322F probably damaging Het
Spic T C 10: 88,511,924 (GRCm39) K111E probably damaging Het
Sqor T C 2: 122,639,947 (GRCm39) probably benign Het
St6galnac1 T A 11: 116,657,410 (GRCm39) M385L probably benign Het
Synpo2 A T 3: 122,873,511 (GRCm39) S1211T possibly damaging Het
Sytl2 T A 7: 90,045,797 (GRCm39) V638E probably damaging Het
Taar1 T A 10: 23,796,445 (GRCm39) S48T probably benign Het
Tbx18 T A 9: 87,611,706 (GRCm39) D108V possibly damaging Het
Tdh C T 14: 63,735,042 (GRCm39) probably benign Het
Tlr9 T A 9: 106,102,881 (GRCm39) L724Q probably benign Het
Tmem270 T A 5: 134,931,642 (GRCm39) Y100F probably benign Het
Trim65 G C 11: 116,015,430 (GRCm39) probably benign Het
Trrap A T 5: 144,742,560 (GRCm39) K1393* probably null Het
Ttc13 A G 8: 125,410,030 (GRCm39) V523A probably damaging Het
Utrn T A 10: 12,587,219 (GRCm39) D939V probably benign Het
Vmn1r46 G T 6: 89,953,935 (GRCm39) M261I probably benign Het
Vwa5a A G 9: 38,649,103 (GRCm39) probably null Het
Zfp108 A T 7: 23,960,149 (GRCm39) T247S probably benign Het
Zfp366 A T 13: 99,365,129 (GRCm39) I97F probably benign Het
Zfp986 C T 4: 145,625,513 (GRCm39) R58C 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGGGTTTCCCTGGCTTAGACTAC -3'
(R):5'- TCTGTTCATGCTCACCACAGCAAC -3'

Sequencing Primer
(F):5'- GCTTAGACTACCTCTTGGGAAAG -3'
(R):5'- CAACACGAGGTCCTGCTG -3'
Posted On 2013-04-11