Incidental Mutation 'R7746:Sbno2'
ID 596846
Institutional Source Beutler Lab
Gene Symbol Sbno2
Ensembl Gene ENSMUSG00000035673
Gene Name strawberry notch 2
Synonyms Stno
MMRRC Submission 045802-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7746 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 79892826-79941405 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79894708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 1012 (I1012M)
Ref Sequence ENSEMBL: ENSMUSP00000151854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000097227] [ENSMUST00000105372] [ENSMUST00000183037] [ENSMUST00000217972] [ENSMUST00000218630] [ENSMUST00000219260]
AlphaFold Q7TNB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000042771
AA Change: I1012M

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: I1012M

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 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
Predicted Effect probably damaging
Transcript: ENSMUST00000218630
AA Change: I1012M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219260
AA Change: I1012M

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,559,339 (GRCm39) Q184L probably benign Het
9030624G23Rik T G 12: 24,124,674 (GRCm39) S68R possibly damaging Het
Acyp1 G T 12: 85,325,832 (GRCm39) R56S unknown Het
Angpt2 C T 8: 18,742,080 (GRCm39) R492Q probably damaging Het
Ankrd36 T C 11: 5,637,451 (GRCm39) L1340P possibly damaging Het
Arhgef33 G C 17: 80,654,549 (GRCm39) probably null Het
Bach1 G A 16: 87,526,521 (GRCm39) S661N probably benign Het
Bik T C 15: 83,425,535 (GRCm39) I12T possibly damaging Het
C3 C T 17: 57,525,859 (GRCm39) R841H probably damaging Het
Cacna1s G T 1: 135,996,756 (GRCm39) R119L probably damaging Het
Cic G A 7: 24,988,207 (GRCm39) V1632M probably damaging Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,604,874 (GRCm39) probably benign Het
Dchs2 A G 3: 83,035,364 (GRCm39) H37R possibly damaging Het
Dvl1 A G 4: 155,940,696 (GRCm39) I439V possibly damaging Het
Fat1 G A 8: 45,404,670 (GRCm39) D474N probably damaging Het
Foxs1 T A 2: 152,775,028 (GRCm39) E8D probably benign Het
Garnl3 T C 2: 32,882,269 (GRCm39) D822G probably damaging Het
Gm44501 C T 17: 40,889,720 (GRCm39) A78V possibly damaging Het
Gpr19 C A 6: 134,846,355 (GRCm39) A443S probably damaging Het
Helb T C 10: 119,931,007 (GRCm39) R729G probably null Het
Lnpep G T 17: 17,758,824 (GRCm39) T840K probably benign Het
Mctp2 T C 7: 71,835,544 (GRCm39) N551S probably benign Het
Mgam T G 6: 40,645,127 (GRCm39) F635V probably damaging Het
Mlc1 G A 15: 88,848,373 (GRCm39) A262V probably damaging Het
Msantd5f9 C T 4: 73,838,099 (GRCm39) S29N possibly damaging Het
Muc5b A G 7: 141,415,976 (GRCm39) Y2974C probably benign Het
Nprl3 A T 11: 32,198,150 (GRCm39) Y208* probably null Het
Or2n1d C T 17: 38,646,285 (GRCm39) P79L probably benign Het
Or8k40 A T 2: 86,584,437 (GRCm39) L215Q probably damaging Het
Pkn2 A G 3: 142,499,868 (GRCm39) F915S probably damaging Het
Pkn3 G A 2: 29,980,596 (GRCm39) C829Y probably benign Het
Polr1a C T 6: 71,918,496 (GRCm39) P685S probably damaging Het
Ppp4r3b A G 11: 29,123,352 (GRCm39) D16G probably benign Het
Ppwd1 C T 13: 104,353,714 (GRCm39) R348H probably damaging Het
Pxdc1 T C 13: 34,823,046 (GRCm39) T98A probably benign Het
Rhbdl1 T C 17: 26,055,167 (GRCm39) I68V probably benign Het
Ror2 A G 13: 53,271,261 (GRCm39) C365R probably damaging Het
Samd4b A T 7: 28,103,328 (GRCm39) H43Q probably damaging Het
Sbf2 A T 7: 110,040,633 (GRCm39) V398D probably benign Het
Serpinb9h A T 13: 33,581,841 (GRCm39) I133L probably damaging Het
Strn T C 17: 78,984,801 (GRCm39) T281A probably benign Het
Syt4 T A 18: 31,577,318 (GRCm39) D12V probably benign Het
Tafa1 T C 6: 96,092,737 (GRCm39) probably null Het
Tmem45a A G 16: 56,646,100 (GRCm39) L40P probably damaging Het
Tnn G A 1: 159,942,255 (GRCm39) P1081L probably damaging Het
Unc80 T C 1: 66,716,544 (GRCm39) V2888A 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
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
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'- GCGACCTAGTTAATGCCTCTTC -3'
(R):5'- AGCTATGCACAGCAGGACAC -3'

Sequencing Primer
(F):5'- CCCACTTCATACCGCGG -3'
(R):5'- AGTACCCCAGACCAGAGGG -3'
Posted On 2019-11-26