Incidental Mutation 'IGL01875:Selenbp2'
ID178856
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 #IGL01875
Quality Score
Status
Chromosome3
Chromosomal Location94693556-94704413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 94698144 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 92 (D92E)
Ref Sequence ENSEMBL: ENSMUSP00000134270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090848] [ENSMUST00000131650] [ENSMUST00000173849] [ENSMUST00000173981] [ENSMUST00000174223]
Predicted Effect possibly damaging
Transcript: ENSMUST00000090848
AA Change: D154E

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000088358
Gene: ENSMUSG00000068877
AA Change: D154E

DomainStartEndE-ValueType
Pfam:SBP56 6 472 7.8e-227 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132162
Predicted Effect possibly damaging
Transcript: ENSMUST00000173849
AA Change: D92E

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134270
Gene: ENSMUSG00000068877
AA Change: D92E

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,772,856 T287A probably damaging Het
Afm G T 5: 90,548,883 probably benign Het
Ankrd24 A G 10: 81,629,737 probably benign Het
Ankrd53 G T 6: 83,763,049 E62* probably null Het
Atg4b A G 1: 93,778,310 S162G probably damaging Het
B530045E10Rik A T 10: 99,422,315 noncoding transcript Het
Ccng1 A G 11: 40,752,356 V88A probably benign Het
Ces1e T A 8: 93,223,896 M86L probably benign Het
Chrne A T 11: 70,618,672 probably null Het
Ctsh T C 9: 90,064,207 S109P probably damaging Het
Eif4g1 A C 16: 20,681,040 I420L probably damaging Het
Ep300 T A 15: 81,640,023 S1351T unknown Het
Fgfr1 A G 8: 25,573,553 M732V possibly damaging Het
Gata5 T G 2: 180,327,345 probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm3633 A T 14: 42,639,277 M18K probably damaging Het
Gucy1b2 A G 14: 62,420,146 L211P probably damaging Het
Hemgn T C 4: 46,396,994 N81D possibly damaging Het
Irs2 A T 8: 11,006,221 M737K probably damaging Het
Itgb7 C A 15: 102,217,995 C502F probably damaging Het
Jakmip1 G T 5: 37,120,980 A534S probably damaging Het
Kidins220 A G 12: 25,057,729 H1636R probably benign Het
Kirrel T A 3: 87,095,730 I119F probably damaging Het
Lrba T C 3: 86,310,047 V527A probably damaging Het
Mitf A G 6: 98,017,895 E409G probably benign Het
Mtrr T G 13: 68,572,609 K289T probably damaging Het
Muc2 A T 7: 141,752,740 I739F probably damaging Het
Ncor2 T C 5: 125,065,870 T612A unknown Het
Olfr1126 T A 2: 87,457,310 N48K probably damaging Het
Olfr54 A T 11: 51,027,375 R124S probably damaging Het
Olfr806 T A 10: 129,738,922 probably benign Het
Olfr901 T A 9: 38,430,298 N5K probably damaging Het
P4ha3 T A 7: 100,300,652 C109S probably damaging Het
Prkd3 T C 17: 78,957,206 E660G possibly damaging Het
Rbm4b G A 19: 4,762,191 M209I probably benign Het
Reln T A 5: 21,904,717 T3132S probably benign Het
Slfn8 G T 11: 83,004,079 Q634K probably benign Het
Sumo3 A T 10: 77,613,998 I57F probably benign Het
Tacr1 A G 6: 82,557,016 Y341C probably benign Het
Tlr4 T A 4: 66,839,489 L173Q probably damaging Het
Tshz3 C T 7: 36,769,960 T458M probably damaging Het
Vmn1r91 T A 7: 20,101,934 C259* probably null Het
Vmn2r16 T C 5: 109,330,411 F11L probably benign Het
Vmn2r28 T A 7: 5,481,303 M633L probably benign Het
Vmn2r35 T C 7: 7,816,773 probably benign Het
Vwc2l G T 1: 70,729,013 A79S probably benign Het
Zfhx2 G A 14: 55,063,915 S2204F unknown Het
Other mutations in Selenbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2014-05-07