Incidental Mutation 'IGL02261:Selenov'
ID286742
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Selenov
Ensembl Gene ENSMUSG00000046750
Gene Nameselenoprotein V
SynonymsBC089491
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.048) question?
Stock #IGL02261
Quality Score
Status
Chromosome7
Chromosomal Location28284652-28291186 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 28290579 bp
ZygosityHeterozygous
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]
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: 88,456,948 V27M probably damaging Het
Ank1 A G 8: 23,087,999 N222D probably damaging Het
Bcas3 A T 11: 85,531,930 T542S probably damaging Het
Btbd1 A T 7: 81,805,759 I288N probably damaging Het
Ctps C T 4: 120,542,579 V500I possibly damaging Het
Cul5 A C 9: 53,635,037 V345G probably damaging Het
Dchs1 A G 7: 105,772,569 Y215H probably damaging Het
Dmxl1 T A 18: 49,840,499 M67K possibly damaging Het
Egln2 C T 7: 27,159,866 E353K possibly damaging Het
Fbxw5 G T 2: 25,503,734 A325S probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gaa A G 11: 119,281,265 *207W probably null Het
Herc2 A G 7: 56,206,744 T3947A probably damaging Het
Ifit2 T A 19: 34,574,224 I388N probably damaging Het
Ikzf4 T C 10: 128,636,722 T209A possibly damaging Het
Il17re A T 6: 113,468,511 probably benign Het
Insrr T A 3: 87,800,722 L157Q probably damaging Het
Kcnq2 T G 2: 181,081,690 Y631S probably damaging Het
Lrrfip1 A G 1: 91,112,168 I198V probably benign Het
Mir7684 A T 15: 82,389,144 probably benign Het
Mphosph9 C T 5: 124,260,087 E1049K probably damaging Het
Mroh1 G A 15: 76,429,160 R611Q probably benign Het
Mynn A T 3: 30,607,131 I121F possibly damaging Het
Ndrg2 G A 14: 51,911,109 R32C probably damaging Het
Olfr1178 A G 2: 88,391,381 I45V probably benign Het
Olfr324 T C 11: 58,597,804 I138T probably benign Het
Ppp1r9b A G 11: 95,002,110 E260G probably damaging Het
Psd4 A G 2: 24,401,744 S652G probably damaging Het
Psg25 C T 7: 18,521,343 R416H probably benign Het
Pygm T A 19: 6,388,271 N171K probably damaging Het
Rbm46 A T 3: 82,864,416 D297E possibly damaging Het
Serpina10 T C 12: 103,616,949 Y358C probably damaging Het
Slc27a3 T C 3: 90,387,695 R352G probably benign Het
Snx33 T C 9: 56,926,578 D69G probably benign Het
St8sia2 G T 7: 73,966,846 P127H probably damaging Het
Thbd T C 2: 148,406,481 K489R probably benign Het
Ttn A T 2: 76,936,705 C3039S probably damaging Het
Vmn1r167 T C 7: 23,504,836 M252V probably benign Het
Xdh A G 17: 73,913,965 S590P possibly damaging Het
Zfp827 G A 8: 79,180,079 V907I probably damaging Het
Other mutations in Selenov
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Selenov APN 7 28290426 missense probably damaging 0.96
R1844:Selenov UTSW 7 28290422 missense probably damaging 1.00
R2010:Selenov UTSW 7 28288022 missense probably damaging 1.00
R4702:Selenov UTSW 7 28288011 missense probably damaging 1.00
R4819:Selenov UTSW 7 28290321 unclassified probably null
R5237:Selenov UTSW 7 28288147 missense probably damaging 0.96
R5898:Selenov UTSW 7 28288154 missense probably damaging 0.99
R6431:Selenov UTSW 7 28288033 missense probably damaging 1.00
R7487:Selenov UTSW 7 28290378 missense probably damaging 0.99
X0022:Selenov UTSW 7 28291073 missense possibly damaging 0.66
Z1088:Selenov UTSW 7 28290668 missense possibly damaging 0.90
Posted On2015-04-16