Incidental Mutation 'IGL02366:Sbno2'
ID290748
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 #IGL02366
Quality Score
Status
Chromosome10
Chromosomal Location80056992-80105571 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 80064202 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 577 (T577I)
Ref Sequence ENSEMBL: ENSMUSP00000151590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000217972] [ENSMUST00000218630] [ENSMUST00000219260]
Predicted Effect probably damaging
Transcript: ENSMUST00000042771
AA Change: T577I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: T577I

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 damaging
Transcript: ENSMUST00000217972
AA Change: T561I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218462
Predicted Effect probably damaging
Transcript: ENSMUST00000218630
AA Change: T577I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000219260
AA Change: T577I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T A 15: 12,810,773 H339L probably benign Het
Abcc1 T C 16: 14,467,979 probably benign Het
Ankrd55 T C 13: 112,318,460 Y3H probably damaging Het
Armcx4 A C X: 134,691,512 K723T possibly damaging Het
Brinp3 T A 1: 146,701,743 V172D possibly damaging Het
Cemip C T 7: 83,943,641 R1226Q probably benign Het
Cntn5 A T 9: 9,984,055 probably benign Het
Cyld T C 8: 88,729,753 V474A probably damaging Het
Dhx40 T C 11: 86,776,702 E537G probably damaging Het
Efhc1 A G 1: 20,960,262 N140D probably damaging Het
Eif6 A G 2: 155,826,172 V49A probably benign Het
Epha4 G T 1: 77,426,711 Y386* probably null Het
Ggnbp2 T C 11: 84,841,601 K222R probably damaging Het
Gm5117 T C 8: 31,737,859 noncoding transcript Het
Gm5852 A T 3: 93,727,261 noncoding transcript Het
Hadha A G 5: 30,135,050 V243A probably benign Het
Hal A G 10: 93,503,528 N493S probably damaging Het
Insrr A G 3: 87,809,909 T731A possibly damaging Het
Irs4 A T X: 141,723,904 L432H probably damaging Het
Kdm4a T G 4: 118,160,506 probably null Het
Lhx4 T C 1: 155,705,188 D197G possibly damaging Het
Mllt10 T A 2: 18,065,087 M18K probably damaging Het
Nars T C 18: 64,503,528 T422A possibly damaging Het
Ncf2 A G 1: 152,835,073 D445G probably benign Het
Ndor1 C A 2: 25,247,981 G544V possibly damaging Het
Notch3 C A 17: 32,144,205 R1268L probably benign Het
Olfr1472 T C 19: 13,454,127 Y130C probably damaging Het
Olfr229 T C 9: 39,909,992 L63P probably damaging Het
Olfr616 A T 7: 103,564,415 V288D probably damaging Het
Olfr771 A T 10: 129,160,625 Y120N probably damaging Het
Osgep T C 14: 50,919,950 D72G probably damaging Het
Pank4 C T 4: 154,969,628 T88I probably benign Het
Pcgf6 T C 19: 47,050,455 E122G possibly damaging Het
Ppp1r21 A G 17: 88,547,662 H123R probably damaging Het
Prex1 A C 2: 166,580,427 L28R probably damaging Het
Rbl1 A T 2: 157,174,893 N595K probably benign Het
Rnf148 T C 6: 23,654,059 I313V probably benign Het
Rnf220 T C 4: 117,489,783 N144S probably benign Het
Sez6 T C 11: 77,976,882 I875T probably damaging Het
Slco1a5 A T 6: 142,250,215 V354D possibly damaging Het
Slit2 A T 5: 48,304,068 T1486S possibly damaging Het
Snd1 T C 6: 28,707,150 probably benign Het
Sval3 T C 6: 41,969,725 probably benign Het
Tmem94 T C 11: 115,797,432 L1239P probably damaging Het
Trpm6 T C 19: 18,778,510 probably benign Het
Ttc9 A C 12: 81,631,610 D69A possibly damaging Het
Ttn A T 2: 76,763,236 L20687M probably benign Het
Zfp748 T A 13: 67,545,427 probably benign Het
Other mutations in Sbno2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Sbno2 APN 10 80064506 splice site probably benign
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
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