Incidental Mutation 'IGL03007:Sbno2'
ID407612
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 #IGL03007
Quality Score
Status
Chromosome10
Chromosomal Location80056992-80105571 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 80058550 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000097227] [ENSMUST00000105372] [ENSMUST00000183037] [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 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 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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,222,038 N144D possibly damaging Het
A830010M20Rik T A 5: 107,503,676 V145E probably benign Het
A830031A19Rik T C 11: 24,049,248 probably benign Het
Ankfy1 T C 11: 72,750,521 F640S probably damaging Het
Asb8 A G 15: 98,142,734 Y16H probably damaging Het
Astn1 T C 1: 158,668,623 probably benign Het
Celf3 A G 3: 94,487,137 T183A probably benign Het
Dctn1 T C 6: 83,182,708 V56A probably damaging Het
Erbb2 A C 11: 98,428,993 probably benign Het
Ighv6-4 A T 12: 114,406,593 Y80N possibly damaging Het
Igsf9b T C 9: 27,333,082 S782P probably damaging Het
Itsn1 A T 16: 91,784,162 probably benign Het
Kcnt2 T A 1: 140,354,507 Y77N possibly damaging Het
Lig3 T C 11: 82,789,575 F359S probably damaging Het
Mtmr6 G T 14: 60,289,535 probably benign Het
Muc4 C T 16: 32,752,048 S642F possibly damaging Het
Ncoa1 T A 12: 4,339,114 I54F possibly damaging Het
Nfx1 C A 4: 40,984,962 T362K probably benign Het
Ntrk1 T C 3: 87,782,743 S449G possibly damaging Het
Odc1 T A 12: 17,548,810 H230Q probably benign Het
Olfr26 C T 9: 38,855,296 T78I probably damaging Het
Olfr348 T C 2: 36,786,800 S92P probably damaging Het
Olfr63 A G 17: 33,268,883 E53G probably damaging Het
Olfr963 T C 9: 39,669,471 V138A possibly damaging Het
Plekhh2 A C 17: 84,574,960 S665R possibly damaging Het
Qpct T A 17: 79,070,865 F155I probably damaging Het
Rcor2 C A 19: 7,274,353 T379K probably benign Het
Rint1 A G 5: 23,815,701 N574S probably benign Het
Rsbn1 C T 3: 103,928,879 A411V probably damaging Het
Sptb A G 12: 76,621,341 S661P probably damaging Het
Syn3 A T 10: 86,064,914 M370K possibly damaging Het
Tex101 G A 7: 24,670,481 probably benign Het
Tmem255b C T 8: 13,457,066 T265I possibly damaging Het
Trio G T 15: 27,902,742 A211D probably damaging Het
Zfp638 C A 6: 83,984,884 Q1902K probably damaging 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
IGL02366:Sbno2 APN 10 80064202 missense probably damaging 1.00
IGL02608:Sbno2 APN 10 80067402 splice site probably null
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 On2016-08-02