Incidental Mutation 'IGL03086:Selenbp2'
ID418115
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Selenbp2
Ensembl Gene ENSMUSG00000068877
Gene Nameselenium binding protein 2
SynonymsAP56, Lpsb2, acetaminophen-binding protein
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.324) question?
Stock #IGL03086
Quality Score
Status
Chromosome3
Chromosomal Location94693556-94704413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 94699638 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 197 (N197S)
Ref Sequence ENSEMBL: ENSMUSP00000088358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090848] [ENSMUST00000131650] [ENSMUST00000173849] [ENSMUST00000173981] [ENSMUST00000174223]
Predicted Effect probably damaging
Transcript: ENSMUST00000090848
AA Change: N197S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088358
Gene: ENSMUSG00000068877
AA Change: N197S

DomainStartEndE-ValueType
Pfam:SBP56 6 472 7.8e-227 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132162
Predicted Effect probably damaging
Transcript: ENSMUST00000173849
AA Change: N135S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134270
Gene: ENSMUSG00000068877
AA Change: N135S

DomainStartEndE-ValueType
Pfam:SBP56 6 62 4.4e-22 PFAM
Pfam:SBP56 57 410 4.1e-165 PFAM
Pfam:Lactonase 163 296 4.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173981
SMART Domains Protein: ENSMUSP00000133320
Gene: ENSMUSG00000068877

DomainStartEndE-ValueType
Pfam:SBP56 1 128 3.9e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174223
SMART Domains Protein: ENSMUSP00000134623
Gene: ENSMUSG00000068877

DomainStartEndE-ValueType
Pfam:SBP56 6 134 3.1e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174377
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A G 1: 72,643,278 I1158T possibly damaging Het
Ankrd11 A G 8: 122,894,510 S868P probably damaging Het
Atad3a C T 4: 155,748,670 probably null Het
Cadm4 A T 7: 24,500,815 N250Y probably damaging Het
Cd300c2 T C 11: 115,000,823 E75G possibly damaging Het
Cdc23 A C 18: 34,637,186 probably benign Het
Cep97 A G 16: 55,915,296 S380P probably benign Het
Ckap5 T A 2: 91,570,276 probably benign Het
Col6a4 A T 9: 106,082,862 probably benign Het
Dclk1 G A 3: 55,247,367 V73M probably damaging Het
Dnah8 T C 17: 30,742,780 L2297P probably damaging Het
Eif2a A G 3: 58,541,117 I124V probably benign Het
Fam227b A T 2: 126,119,031 I226K probably benign Het
Fcgr1 G T 3: 96,284,498 Y331* probably null Het
Helq T C 5: 100,796,927 T106A possibly damaging Het
Ly9 A T 1: 171,605,170 Y92N probably benign Het
Myom1 G A 17: 71,108,671 C1256Y probably damaging Het
Ndc80 G A 17: 71,520,925 T104I probably benign Het
Olfr1389 A G 11: 49,430,805 T110A probably benign Het
Olfr513 A T 7: 108,755,796 probably benign Het
Olfr54 T A 11: 51,027,730 C243S probably damaging Het
Olfr570 T C 7: 102,900,406 F13S probably damaging Het
Phtf2 T C 5: 20,764,275 N679S probably damaging Het
Polq G A 16: 37,091,049 R2382K probably benign Het
Recql4 C T 15: 76,706,268 R672Q probably benign Het
Sirpb1a C A 3: 15,426,328 probably null Het
Slc12a2 T A 18: 57,921,784 D832E probably benign Het
Slc13a1 G A 6: 24,118,003 A245V probably damaging Het
Unc80 A G 1: 66,509,474 D635G probably damaging Het
Utp18 T C 11: 93,876,056 Q275R probably damaging Het
Wdr35 A G 12: 9,008,692 probably null Het
Zfyve26 A G 12: 79,295,564 V36A probably damaging Het
Other mutations in Selenbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01875:Selenbp2 APN 3 94698144 missense possibly damaging 0.76
IGL02007:Selenbp2 APN 3 94698154 missense possibly damaging 0.67
IGL02103:Selenbp2 APN 3 94698131 missense probably null
IGL02222:Selenbp2 APN 3 94699962 missense probably damaging 1.00
IGL02441:Selenbp2 APN 3 94704064 missense probably benign 0.02
R0068:Selenbp2 UTSW 3 94703509 missense probably benign 0.00
R0256:Selenbp2 UTSW 3 94699701 missense probably benign 0.35
R0725:Selenbp2 UTSW 3 94697502 splice site probably benign
R0879:Selenbp2 UTSW 3 94699556 missense possibly damaging 0.76
R1636:Selenbp2 UTSW 3 94696815 missense probably damaging 1.00
R3719:Selenbp2 UTSW 3 94699617 missense probably damaging 1.00
R4828:Selenbp2 UTSW 3 94704119 missense probably benign 0.27
R4962:Selenbp2 UTSW 3 94703549 missense probably damaging 0.99
R6661:Selenbp2 UTSW 3 94702514 missense probably damaging 1.00
R7201:Selenbp2 UTSW 3 94702357 missense probably benign 0.03
R7221:Selenbp2 UTSW 3 94703826 nonsense probably null
R7413:Selenbp2 UTSW 3 94700097 missense probably benign 0.03
X0050:Selenbp2 UTSW 3 94704128 missense probably damaging 0.99
Z1176:Selenbp2 UTSW 3 94698100 missense probably damaging 1.00
Posted On2016-08-02