Incidental Mutation 'IGL02261:Selenov'
ID 286742
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Selenov
Ensembl Gene ENSMUSG00000046750
Gene Name selenoprotein V
Synonyms BC089491
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02261
Quality Score
Status
Chromosome 7
Chromosomal Location 27984077-27990611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27990004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 167 (T167S)
Ref Sequence ENSEMBL: ENSMUSP00000050372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056589] [ENSMUST00000108315]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000056589
AA Change: T167S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000050372
Gene: ENSMUSG00000046750
AA Change: T167S

DomainStartEndE-ValueType
low complexity region 58 98 N/A INTRINSIC
low complexity region 180 191 N/A INTRINSIC
Pfam:Rdx 246 324 4.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108315
SMART Domains Protein: ENSMUSP00000103951
Gene: ENSMUSG00000003436

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Blast:EGF 60 118 3e-18 BLAST
low complexity region 140 154 N/A INTRINSIC
low complexity region 183 198 N/A INTRINSIC
EGF 211 247 1.53e1 SMART
EGF 275 308 3.08e-6 SMART
EGF 313 349 8.25e-7 SMART
EGF 354 387 2.83e-5 SMART
EGF 392 425 1.04e-3 SMART
EGF 430 463 7.07e-6 SMART
transmembrane domain 489 511 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138721
Predicted Effect probably benign
Transcript: ENSMUST00000156408
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a selenoproteim that contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,604,807 (GRCm39) V27M probably damaging Het
Ank1 A G 8: 23,578,015 (GRCm39) N222D probably damaging Het
Bcas3 A T 11: 85,422,756 (GRCm39) T542S probably damaging Het
Btbd1 A T 7: 81,455,507 (GRCm39) I288N probably damaging Het
Ctps1 C T 4: 120,399,776 (GRCm39) V500I possibly damaging Het
Cul5 A C 9: 53,546,337 (GRCm39) V345G probably damaging Het
Dchs1 A G 7: 105,421,776 (GRCm39) Y215H probably damaging Het
Dmxl1 T A 18: 49,973,566 (GRCm39) M67K possibly damaging Het
Egln2 C T 7: 26,859,291 (GRCm39) E353K possibly damaging Het
Fbxw5 G T 2: 25,393,746 (GRCm39) A325S probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gaa A G 11: 119,172,091 (GRCm39) *207W probably null Het
Herc2 A G 7: 55,856,492 (GRCm39) T3947A probably damaging Het
Ifit2 T A 19: 34,551,624 (GRCm39) I388N probably damaging Het
Ikzf4 T C 10: 128,472,591 (GRCm39) T209A possibly damaging Het
Il17re A T 6: 113,445,472 (GRCm39) probably benign Het
Insrr T A 3: 87,708,029 (GRCm39) L157Q probably damaging Het
Kcnq2 T G 2: 180,723,483 (GRCm39) Y631S probably damaging Het
Lrrfip1 A G 1: 91,039,890 (GRCm39) I198V probably benign Het
Mir7684 A T 15: 82,273,345 (GRCm39) probably benign Het
Mphosph9 C T 5: 124,398,150 (GRCm39) E1049K probably damaging Het
Mroh1 G A 15: 76,313,360 (GRCm39) R611Q probably benign Het
Mynn A T 3: 30,661,280 (GRCm39) I121F possibly damaging Het
Ndrg2 G A 14: 52,148,566 (GRCm39) R32C probably damaging Het
Or2ab1 T C 11: 58,488,630 (GRCm39) I138T probably benign Het
Or4p7 A G 2: 88,221,725 (GRCm39) I45V probably benign Het
Ppp1r9b A G 11: 94,892,936 (GRCm39) E260G probably damaging Het
Psd4 A G 2: 24,291,756 (GRCm39) S652G probably damaging Het
Psg25 C T 7: 18,255,268 (GRCm39) R416H probably benign Het
Pygm T A 19: 6,438,301 (GRCm39) N171K probably damaging Het
Rbm46 A T 3: 82,771,723 (GRCm39) D297E possibly damaging Het
Serpina10 T C 12: 103,583,208 (GRCm39) Y358C probably damaging Het
Slc27a3 T C 3: 90,295,002 (GRCm39) R352G probably benign Het
Snx33 T C 9: 56,833,862 (GRCm39) D69G probably benign Het
St8sia2 G T 7: 73,616,594 (GRCm39) P127H probably damaging Het
Thbd T C 2: 148,248,401 (GRCm39) K489R probably benign Het
Ttn A T 2: 76,767,049 (GRCm39) C3039S probably damaging Het
Vmn1r167 T C 7: 23,204,261 (GRCm39) M252V probably benign Het
Xdh A G 17: 74,220,960 (GRCm39) S590P possibly damaging Het
Zfp827 G A 8: 79,906,708 (GRCm39) V907I probably damaging Het
Other mutations in Selenov
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Selenov APN 7 27,989,851 (GRCm39) missense probably damaging 0.96
R1844:Selenov UTSW 7 27,989,847 (GRCm39) missense probably damaging 1.00
R2010:Selenov UTSW 7 27,987,447 (GRCm39) missense probably damaging 1.00
R4702:Selenov UTSW 7 27,987,436 (GRCm39) missense probably damaging 1.00
R4819:Selenov UTSW 7 27,989,746 (GRCm39) splice site probably null
R5237:Selenov UTSW 7 27,987,572 (GRCm39) missense probably damaging 0.96
R5898:Selenov UTSW 7 27,987,579 (GRCm39) missense probably damaging 0.99
R6431:Selenov UTSW 7 27,987,458 (GRCm39) missense probably damaging 1.00
R7487:Selenov UTSW 7 27,989,803 (GRCm39) missense probably damaging 0.99
R8047:Selenov UTSW 7 27,990,108 (GRCm39) missense probably benign 0.37
R8464:Selenov UTSW 7 27,987,897 (GRCm39) missense probably benign 0.14
R8917:Selenov UTSW 7 27,987,728 (GRCm39) missense probably damaging 0.98
X0022:Selenov UTSW 7 27,990,498 (GRCm39) missense possibly damaging 0.66
Z1088:Selenov UTSW 7 27,990,093 (GRCm39) missense possibly damaging 0.90
Posted On 2015-04-16