Incidental Mutation 'IGL01970:Selenbp1'
ID 182530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Selenbp1
Ensembl Gene ENSMUSG00000068874
Gene Name selenium binding protein 1
Synonyms Lp56, Lpsb
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01970
Quality Score
Status
Chromosome 3
Chromosomal Location 94840394-94852069 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94844313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 57 (S57G)
Ref Sequence ENSEMBL: ENSMUSP00000118563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090839] [ENSMUST00000134202] [ENSMUST00000140757]
AlphaFold P17563
Predicted Effect probably benign
Transcript: ENSMUST00000090839
AA Change: S57G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088349
Gene: ENSMUSG00000068874
AA Change: S57G

DomainStartEndE-ValueType
Pfam:SBP56 6 472 3.2e-225 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134202
AA Change: S57G

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120159
Gene: ENSMUSG00000068874
AA Change: S57G

DomainStartEndE-ValueType
Pfam:SBP56 6 123 4.7e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139949
Predicted Effect probably benign
Transcript: ENSMUST00000140757
AA Change: S57G

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118563
Gene: ENSMUSG00000068874
AA Change: S57G

DomainStartEndE-ValueType
Pfam:SBP56 6 123 4.7e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145551
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit sex-specific changes in organ weights. Mice homozygous for a different allele lack methanethiol oxidase activity and exhibit an increase in dimethylsulfide and dimethyl-sulfone serum levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdk9 T C 2: 32,598,063 (GRCm39) H280R possibly damaging Het
Cenpt C T 8: 106,571,748 (GRCm39) R461H probably damaging Het
Cpa4 A G 6: 30,579,645 (GRCm39) T151A probably benign Het
Glrb A G 3: 80,769,232 (GRCm39) I165T possibly damaging Het
Gm17305 A T 11: 69,255,646 (GRCm39) probably benign Het
Kdm5b T A 1: 134,528,465 (GRCm39) S391T probably damaging Het
Klrg2 T C 6: 38,613,383 (GRCm39) K207E probably damaging Het
Krt1 T C 15: 101,755,299 (GRCm39) I487V possibly damaging Het
Krt27 A G 11: 99,239,547 (GRCm39) L311P probably damaging Het
Leng9 T C 7: 4,151,326 (GRCm39) Y450C probably damaging Het
Oacyl A T 18: 65,882,785 (GRCm39) I627F possibly damaging Het
Perm1 G T 4: 156,302,118 (GRCm39) G221W probably damaging Het
Rft1 C T 14: 30,412,492 (GRCm39) L518F probably benign Het
Sdk1 A T 5: 142,071,437 (GRCm39) Q1209L possibly damaging Het
Sema5a T C 15: 32,686,792 (GRCm39) M968T probably benign Het
Slc16a3 G A 11: 120,847,864 (GRCm39) V351M probably damaging Het
Sorbs2 G A 8: 46,198,840 (GRCm39) V73I probably damaging Het
Specc1l T A 10: 75,081,595 (GRCm39) D347E probably damaging Het
Tas2r116 A C 6: 132,832,632 (GRCm39) T78P probably benign Het
Tpm3 A G 3: 89,997,135 (GRCm39) E224G probably damaging Het
Trnau1ap T C 4: 132,041,298 (GRCm39) probably benign Het
Vmn2r17 T A 5: 109,575,813 (GRCm39) M228K probably damaging Het
Vnn1 T C 10: 23,773,300 (GRCm39) I109T probably benign Het
Wee1 C A 7: 109,738,457 (GRCm39) H523Q probably damaging Het
Xpr1 T C 1: 155,165,980 (GRCm39) N524S probably benign Het
Other mutations in Selenbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03281:Selenbp1 APN 3 94,844,621 (GRCm39) nonsense probably null
PIT4131001:Selenbp1 UTSW 3 94,844,607 (GRCm39) missense probably damaging 0.99
R0415:Selenbp1 UTSW 3 94,844,224 (GRCm39) missense possibly damaging 0.61
R1132:Selenbp1 UTSW 3 94,844,644 (GRCm39) missense probably benign 0.02
R1421:Selenbp1 UTSW 3 94,851,183 (GRCm39) missense probably benign
R1522:Selenbp1 UTSW 3 94,844,669 (GRCm39) missense probably damaging 1.00
R1676:Selenbp1 UTSW 3 94,851,854 (GRCm39) missense probably damaging 1.00
R1701:Selenbp1 UTSW 3 94,844,701 (GRCm39) missense probably damaging 1.00
R2152:Selenbp1 UTSW 3 94,851,441 (GRCm39) missense probably damaging 1.00
R3033:Selenbp1 UTSW 3 94,845,351 (GRCm39) missense probably benign 0.22
R4363:Selenbp1 UTSW 3 94,850,060 (GRCm39) splice site probably null
R4631:Selenbp1 UTSW 3 94,851,879 (GRCm39) makesense probably null
R4798:Selenbp1 UTSW 3 94,851,211 (GRCm39) missense probably benign 0.27
R4935:Selenbp1 UTSW 3 94,845,269 (GRCm39) missense probably benign 0.10
R5464:Selenbp1 UTSW 3 94,851,727 (GRCm39) missense probably benign
R6253:Selenbp1 UTSW 3 94,851,157 (GRCm39) missense possibly damaging 0.95
R6314:Selenbp1 UTSW 3 94,844,576 (GRCm39) missense probably damaging 1.00
R7199:Selenbp1 UTSW 3 94,851,745 (GRCm39) missense possibly damaging 0.79
R7330:Selenbp1 UTSW 3 94,847,021 (GRCm39) missense probably benign
R7637:Selenbp1 UTSW 3 94,844,659 (GRCm39) nonsense probably null
R7658:Selenbp1 UTSW 3 94,851,413 (GRCm39) missense probably benign 0.03
R8739:Selenbp1 UTSW 3 94,844,601 (GRCm39) missense probably damaging 0.99
R8803:Selenbp1 UTSW 3 94,851,821 (GRCm39) missense possibly damaging 0.88
R8987:Selenbp1 UTSW 3 94,847,425 (GRCm39) missense probably benign 0.10
R9145:Selenbp1 UTSW 3 94,851,414 (GRCm39) missense probably benign 0.38
R9209:Selenbp1 UTSW 3 94,847,079 (GRCm39) missense probably benign 0.08
R9747:Selenbp1 UTSW 3 94,844,648 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07