Incidental Mutation 'IGL02222:Selenbp2'
ID285184
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: 0.370) question?
Stock #IGL02222
Quality Score
Status
Chromosome3
Chromosomal Location94693556-94704413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 94699962 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 168 (V168E)
Ref Sequence ENSEMBL: ENSMUSP00000134270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090848] [ENSMUST00000131650] [ENSMUST00000173849] [ENSMUST00000173981] [ENSMUST00000174223]
Predicted Effect probably damaging
Transcript: ENSMUST00000090848
AA Change: V230E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088358
Gene: ENSMUSG00000068877
AA Change: V230E

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: V168E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134270
Gene: ENSMUSG00000068877
AA Change: V168E

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,282,886 R1682W probably benign Het
Angptl6 A T 9: 20,873,907 M450K probably damaging Het
Armc12 C A 17: 28,538,720 N275K probably damaging Het
Cd27 T C 6: 125,234,532 H144R probably damaging Het
Cenpf T C 1: 189,654,444 K1880E probably benign Het
Dchs1 A T 7: 105,764,887 I907N probably damaging Het
Dpy19l4 A C 4: 11,281,116 F443C possibly damaging Het
Eif3i C T 4: 129,592,088 D315N possibly damaging Het
Fam217a A G 13: 34,911,119 L128P probably damaging Het
Fam46b T C 4: 133,486,553 V245A probably damaging Het
Fetub C T 16: 22,932,328 L62F probably damaging Het
Fmn1 A T 2: 113,593,109 I1047F probably damaging Het
G2e3 A G 12: 51,363,233 H267R probably damaging Het
Gigyf2 A G 1: 87,410,863 probably null Het
Gm10650 T C 3: 128,040,140 noncoding transcript Het
Grip1 C T 10: 119,999,809 T470I probably damaging Het
Hmcn1 T G 1: 150,806,401 D466A probably benign Het
Lrrc63 T C 14: 75,086,140 Y548C probably damaging Het
Naaa T C 5: 92,259,550 probably benign Het
Parpbp T A 10: 88,140,085 E55D possibly damaging Het
Pnpt1 A T 11: 29,159,327 D691V possibly damaging Het
Pnpt1 G A 11: 29,130,842 A29T probably benign Het
Pramef6 A G 4: 143,895,846 M313T possibly damaging Het
Psg25 T C 7: 18,529,727 N57S probably damaging Het
Syne2 G A 12: 75,952,843 E2337K probably damaging Het
Synj2 A G 17: 6,037,480 T1269A probably benign Het
Tnfrsf13c C A 15: 82,223,163 V144L probably damaging Het
Uspl1 G T 5: 149,194,044 V132L probably benign Het
Vmn2r58 T A 7: 41,864,025 Y398F possibly damaging Het
Vps13a T A 19: 16,682,175 T1663S probably benign Het
Ythdc1 G A 5: 86,828,043 R503H possibly 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
IGL02441:Selenbp2 APN 3 94704064 missense probably benign 0.02
IGL03086:Selenbp2 APN 3 94699638 missense probably damaging 1.00
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 On2015-04-16