Incidental Mutation 'IGL00231:Sbno2'
ID306818
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 #IGL00231
Quality Score
Status
Chromosome10
Chromosomal Location80056992-80105571 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 80064506 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000217972] [ENSMUST00000218630] [ENSMUST00000219260]
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000217972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218462
Predicted Effect probably benign
Transcript: ENSMUST00000218630
Predicted Effect probably benign
Transcript: ENSMUST00000219260
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik A G 3: 91,088,358 M79T probably benign Het
Adamtsl1 A G 4: 86,385,640 T1346A probably benign Het
Ccdc102a T C 8: 94,911,638 probably null Het
Cgrrf1 T C 14: 46,832,322 F16S probably damaging Het
Clybl T C 14: 122,379,198 probably benign Het
Cubn T C 2: 13,381,849 E1535G possibly damaging Het
Dmrtc1b C A X: 102,713,627 P226H probably benign Het
Dnah17 G A 11: 118,088,214 A1784V possibly damaging Het
Dnajc24 A G 2: 106,002,003 Y12H probably damaging Het
Drd1 T C 13: 54,053,467 T236A probably benign Het
Ep400 A T 5: 110,687,841 V1934D unknown Het
Flt1 A G 5: 147,580,300 probably null Het
Fut8 A G 12: 77,448,488 K284R probably benign Het
Hcn1 A G 13: 117,975,993 E831G probably damaging Het
Inpp5j A T 11: 3,500,009 probably benign Het
Insig2 A G 1: 121,305,947 Y213H probably damaging Het
Kcnh4 G A 11: 100,756,995 probably benign Het
Kifc2 T A 15: 76,667,462 probably benign Het
Krt75 T C 15: 101,572,646 E231G probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mfsd4b2 T A 10: 39,925,061 probably benign Het
Micall2 T A 5: 139,717,556 probably null Het
Olfr1123 A G 2: 87,418,566 T173A possibly damaging Het
Olfr284 C T 15: 98,340,173 S256N possibly damaging Het
Osbp2 C T 11: 3,726,561 D287N possibly damaging Het
Plin1 A G 7: 79,726,660 probably benign Het
Ppl T C 16: 5,089,545 N962S probably benign Het
Psg25 C T 7: 18,526,181 probably benign Het
Ptprt A T 2: 161,810,624 D601E probably benign Het
Sntg2 T C 12: 30,276,721 D147G probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Stam2 T A 2: 52,706,406 I307F possibly damaging Het
Tbx21 T G 11: 97,098,923 E481A probably damaging Het
Tsc2 G A 17: 24,608,107 T876I probably damaging Het
Wdfy4 T C 14: 33,102,539 I1308V possibly damaging Het
Wdr37 C T 13: 8,820,505 V143I probably damaging Het
Wdr43 T G 17: 71,652,814 Y550D probably damaging Het
Wnk4 A G 11: 101,268,748 D593G possibly damaging Het
Other mutations in Sbno2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01773:Sbno2 APN 10 80057831 missense probably damaging 1.00
IGL01869:Sbno2 APN 10 80060392 critical splice donor site probably null
IGL01911:Sbno2 APN 10 80069624 nonsense 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 On2015-04-16