Incidental Mutation 'IGL02007:Selenbp2'
ID182240
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 #IGL02007
Quality Score
Status
Chromosome3
Chromosomal Location94693556-94704413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 94698154 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Histidine at position 96 (N96H)
Ref Sequence ENSEMBL: ENSMUSP00000134270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090848] [ENSMUST00000131650] [ENSMUST00000173849] [ENSMUST00000173981] [ENSMUST00000174223]
Predicted Effect probably benign
Transcript: ENSMUST00000090848
AA Change: N158H

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000088358
Gene: ENSMUSG00000068877
AA Change: N158H

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: N96H

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134270
Gene: ENSMUSG00000068877
AA Change: N96H

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 C A 14: 68,633,219 R335L possibly damaging Het
Adgrv1 T C 13: 81,568,743 probably benign Het
Calcrl A G 2: 84,375,324 C8R probably benign Het
Cntn4 T A 6: 106,655,529 S505T probably benign Het
Cyp3a16 T C 5: 145,441,948 probably benign Het
Fam160a1 G T 3: 85,722,445 P280T probably damaging Het
Gm11127 G T 17: 36,056,330 N333K possibly damaging Het
Gpatch11 A G 17: 78,842,164 T198A probably benign Het
Heatr5a C A 12: 51,916,158 L986F probably damaging Het
Ift172 A G 5: 31,286,604 I90T probably benign Het
Igkv3-9 A G 6: 70,588,461 probably benign Het
Iqsec1 G A 6: 90,690,349 P369S probably benign Het
Myh1 C A 11: 67,220,556 T1607K probably benign Het
Myo18b T C 5: 112,874,972 probably benign Het
Nobox A G 6: 43,307,538 L58P probably damaging Het
Nwd2 T A 5: 63,804,699 I542N possibly damaging Het
Olfr1301 A G 2: 111,754,479 T77A probably damaging Het
Olfr474 A G 7: 107,954,746 Y35C probably damaging Het
Osm C T 11: 4,239,470 R85W probably damaging Het
Pcdh20 T C 14: 88,469,595 R90G probably benign Het
Pkhd1l1 T C 15: 44,533,733 probably benign Het
Sec14l2 A G 11: 4,111,114 S116P probably benign Het
Smarcal1 T C 1: 72,595,940 S393P probably damaging Het
Tbc1d1 A G 5: 64,256,992 Q103R probably damaging Het
Tmem63c T C 12: 87,072,873 Y314H probably damaging Het
Wdr34 A G 2: 30,038,390 S75P probably benign Het
Zfp663 A C 2: 165,359,073 S14A probably benign Het
Zmynd10 A G 9: 107,550,532 N345S probably damaging Het
Other mutations in Selenbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01875:Selenbp2 APN 3 94698144 missense possibly damaging 0.76
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