Incidental Mutation 'R6314:Selenbp1'
ID509923
Institutional Source Beutler Lab
Gene Symbol Selenbp1
Ensembl Gene ENSMUSG00000068874
Gene Nameselenium binding protein 1
SynonymsLp56, Lpsb
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6314 (G1)
Quality Score211.009
Status Validated
Chromosome3
Chromosomal Location94933056-94944758 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 94937265 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 78 (N78D)
Ref Sequence ENSEMBL: ENSMUSP00000088349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090839] [ENSMUST00000134202] [ENSMUST00000140757]
Predicted Effect probably damaging
Transcript: ENSMUST00000090839
AA Change: N78D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088349
Gene: ENSMUSG00000068874
AA Change: N78D

DomainStartEndE-ValueType
Pfam:SBP56 6 472 3.2e-225 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134202
AA Change: N78D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120159
Gene: ENSMUSG00000068874
AA Change: N78D

DomainStartEndE-ValueType
Pfam:SBP56 6 123 4.7e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139949
Predicted Effect probably damaging
Transcript: ENSMUST00000140757
AA Change: N78D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118563
Gene: ENSMUSG00000068874
AA Change: N78D

DomainStartEndE-ValueType
Pfam:SBP56 6 123 4.7e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145551
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik T C 2: 85,502,176 N168S probably benign Het
4930449I24Rik A C 5: 146,504,892 E283A possibly damaging Het
6430531B16Rik A C 7: 139,976,489 L195R possibly damaging Het
9130204L05Rik A T 3: 91,088,376 V73E possibly damaging Het
Aadacl2 A T 3: 60,017,403 R130S probably damaging Het
Adam22 A T 5: 8,127,365 C581* probably null Het
Adss T A 1: 177,767,768 Y402F probably damaging Het
Agfg1 A T 1: 82,858,434 Q13H probably damaging Het
Ankdd1a C T 9: 65,508,061 A227T possibly damaging Het
Armc8 A G 9: 99,535,884 S74P probably benign Het
Atn1 A T 6: 124,747,050 probably benign Het
BC027072 T G 17: 71,752,457 Q75P probably benign Het
Ddx5 T C 11: 106,788,521 probably benign Het
Depdc1a T A 3: 159,498,414 H33Q probably damaging Het
Dnmt3l A T 10: 78,059,687 Y58F probably benign Het
Efemp1 C T 11: 28,914,603 T219I probably benign Het
Enpp2 T C 15: 54,865,970 N436D probably damaging Het
Epb41l4a A G 18: 33,874,155 V261A probably damaging Het
Erap1 A T 13: 74,674,775 K802N probably damaging Het
Fcrl6 T A 1: 172,598,619 probably null Het
Fv1 A T 4: 147,869,699 probably null Het
Gdpd4 T A 7: 97,973,953 M257K probably damaging Het
Gorab T C 1: 163,397,089 S48G probably damaging Het
Gxylt2 A T 6: 100,798,203 H361L probably damaging Het
Hk1 A G 10: 62,292,444 Y300H possibly damaging Het
Hk3 T C 13: 55,013,580 R156G probably benign Het
Hook3 T A 8: 26,088,108 M118L probably benign Het
Lmnb2 G A 10: 80,909,970 R92C probably damaging Het
Lsr A G 7: 30,958,599 L380P probably damaging Het
Mettl16 A T 11: 74,796,006 R204* probably null Het
Olfr1353 A G 10: 78,970,345 H232R probably benign Het
Olfr186 A T 16: 59,027,457 I150K probably benign Het
Olfr866 C A 9: 20,027,662 S92I probably damaging Het
Orc3 C A 4: 34,579,797 G494C possibly damaging Het
Pip5k1a G T 3: 95,068,121 T346K probably damaging Het
Pitx1 A T 13: 55,826,353 S222T possibly damaging Het
Pm20d1 T C 1: 131,816,016 V473A possibly damaging Het
Pnpla6 C T 8: 3,521,572 L168F probably benign Het
Pramef12 T C 4: 144,394,587 D289G probably damaging Het
Reln C A 5: 22,152,484 E195* probably null Het
Sec24b A T 3: 130,007,245 probably null Het
Serpina1d T A 12: 103,764,700 T340S probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,403,480 probably benign Het
Snap29 T C 16: 17,419,319 M98T probably benign Het
Son G T 16: 91,660,410 probably benign Het
Tgfbi A T 13: 56,626,163 T252S probably benign Het
Thsd7a T C 6: 12,554,997 N296S possibly damaging Het
Tmem225 C G 9: 40,150,720 T210S probably benign Het
Tmem245 A T 4: 56,888,592 V778D possibly damaging Het
Tor4a T C 2: 25,194,782 R370G possibly damaging Het
Tubgcp3 T C 8: 12,648,625 H442R probably benign Het
Vmn1r20 A T 6: 57,432,057 M123L probably benign Het
Zfp622 T C 15: 25,986,981 V273A probably benign Het
Zhx1 C T 15: 58,054,002 V283I probably benign Het
Other mutations in Selenbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01970:Selenbp1 APN 3 94937002 missense probably benign 0.24
IGL03281:Selenbp1 APN 3 94937310 nonsense probably null
PIT4131001:Selenbp1 UTSW 3 94937296 missense probably damaging 0.99
R0415:Selenbp1 UTSW 3 94936913 missense possibly damaging 0.61
R1132:Selenbp1 UTSW 3 94937333 missense probably benign 0.02
R1421:Selenbp1 UTSW 3 94943872 missense probably benign
R1522:Selenbp1 UTSW 3 94937358 missense probably damaging 1.00
R1676:Selenbp1 UTSW 3 94944543 missense probably damaging 1.00
R1701:Selenbp1 UTSW 3 94937390 missense probably damaging 1.00
R2152:Selenbp1 UTSW 3 94944130 missense probably damaging 1.00
R3033:Selenbp1 UTSW 3 94938040 missense probably benign 0.22
R4363:Selenbp1 UTSW 3 94942749 splice site probably null
R4631:Selenbp1 UTSW 3 94944568 makesense probably null
R4798:Selenbp1 UTSW 3 94943900 missense probably benign 0.27
R4935:Selenbp1 UTSW 3 94937958 missense probably benign 0.10
R5464:Selenbp1 UTSW 3 94944416 missense probably benign
R6253:Selenbp1 UTSW 3 94943846 missense possibly damaging 0.95
R7199:Selenbp1 UTSW 3 94944434 missense possibly damaging 0.79
R7330:Selenbp1 UTSW 3 94939710 missense probably benign
R7637:Selenbp1 UTSW 3 94937348 nonsense probably null
R7658:Selenbp1 UTSW 3 94944102 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AAGCATGGTCACTAGTGCC -3'
(R):5'- CCAGCAGGTTCAATAGGGTC -3'

Sequencing Primer
(F):5'- TGTCCTCACAGTAATGGAAGC -3'
(R):5'- CAGGTTCAATAGGGTCACAAAGAC -3'
Posted On2018-04-02