Incidental Mutation 'R1950:Scly'
ID217171
Institutional Source Beutler Lab
Gene Symbol Scly
Ensembl Gene ENSMUSG00000026307
Gene Nameselenocysteine lyase
SynonymsSCL, Scly2, A930015N15Rik, Selenocysteine reductase, Scly1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #R1950 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location91298338-91321075 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 91305394 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 76 (T76A)
Ref Sequence ENSEMBL: ENSMUSP00000122449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027532] [ENSMUST00000137074] [ENSMUST00000142488] [ENSMUST00000145843] [ENSMUST00000147523] [ENSMUST00000154045]
Predicted Effect probably benign
Transcript: ENSMUST00000027532
AA Change: T130A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000027532
Gene: ENSMUSG00000026307
AA Change: T130A

DomainStartEndE-ValueType
Pfam:Aminotran_5 20 417 1.7e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123651
Predicted Effect unknown
Transcript: ENSMUST00000124832
AA Change: T127A
SMART Domains Protein: ENSMUSP00000116382
Gene: ENSMUSG00000026307
AA Change: T127A

DomainStartEndE-ValueType
Pfam:Aminotran_5 18 215 2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137074
AA Change: T76A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122449
Gene: ENSMUSG00000026307
AA Change: T76A

DomainStartEndE-ValueType
Pfam:Aminotran_5 48 216 7.4e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142488
AA Change: T152A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000119979
Gene: ENSMUSG00000026307
AA Change: T152A

DomainStartEndE-ValueType
Pfam:Aminotran_5 42 238 2.2e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142802
Predicted Effect probably benign
Transcript: ENSMUST00000145843
SMART Domains Protein: ENSMUSP00000116824
Gene: ENSMUSG00000026307

DomainStartEndE-ValueType
Pfam:Aminotran_5 1 68 1.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147523
AA Change: T132A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000114759
Gene: ENSMUSG00000026307
AA Change: T132A

DomainStartEndE-ValueType
Pfam:Aminotran_5 22 249 2.5e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153621
Predicted Effect probably benign
Transcript: ENSMUST00000154045
SMART Domains Protein: ENSMUSP00000137796
Gene: ENSMUSG00000026307

DomainStartEndE-ValueType
PDB:3A9Z|B 1 57 5e-30 PDB
SCOP:d1eg5a_ 20 57 3e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181737
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice fed a selenium-deficient diet exhibit mild learning impairment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 3,960,677 N478S probably damaging Het
Als2 T A 1: 59,185,601 probably null Het
Ankfy1 A G 11: 72,760,329 Y1035C probably damaging Het
Ankrd11 T C 8: 122,889,869 T2394A probably damaging Het
Axin1 G C 17: 26,193,964 G780R possibly damaging Het
Carm1 A T 9: 21,574,516 T127S probably benign Het
Ccdc73 T C 2: 104,926,935 I81T probably benign Het
Cdh12 T C 15: 21,237,879 Y67H probably damaging Het
Cfap65 C A 1: 74,907,660 G1297V probably damaging Het
Cfap74 T C 4: 155,427,430 probably null Het
Chit1 A G 1: 134,151,230 Y426C probably damaging Het
Clpp A G 17: 56,996,039 probably benign Het
Clrn3 T G 7: 135,514,084 Y179S possibly damaging Het
Cntn5 A C 9: 9,781,769 M635R probably damaging Het
Col12a1 A T 9: 79,630,549 S2546T possibly damaging Het
Ctla2b T C 13: 60,896,049 N102S possibly damaging Het
Cwf19l2 A T 9: 3,418,674 I154F probably benign Het
Cyhr1 A G 15: 76,659,217 probably null Het
Dffa C A 4: 149,104,382 S44R probably benign Het
Ehbp1 T A 11: 22,059,228 K930M probably damaging Het
Erc2 T A 14: 27,912,900 S473T probably damaging Het
Fam71f1 C T 6: 29,335,816 probably null Het
Fbxw24 A T 9: 109,605,413 L373H probably benign Het
Fer1l4 T C 2: 156,048,274 I244V probably damaging Het
Fgfr2 G A 7: 130,198,481 T245M probably damaging Het
Gbp9 T A 5: 105,081,246 M512L probably benign Het
Glg1 T A 8: 111,165,639 K251I possibly damaging Het
Gm10553 A G 1: 85,100,420 D86G possibly damaging Het
Gm10767 A G 13: 66,907,205 probably benign Het
Gm5622 T C 14: 51,655,772 V52A probably benign Het
Gucy1b1 A G 3: 82,045,409 V239A probably benign Het
Gzma A G 13: 113,093,929 L246P probably damaging Het
Hibadh C A 6: 52,556,463 A223S probably benign Het
Hydin C A 8: 110,609,987 T5132N possibly damaging Het
Insrr A G 3: 87,814,513 N1198S probably damaging Het
Ivl T C 3: 92,572,113 E215G possibly damaging Het
Jmjd1c A G 10: 67,239,922 D2037G possibly damaging Het
Kcna3 G A 3: 107,037,672 C417Y probably damaging Het
Klra2 T C 6: 131,230,115 N177S probably benign Het
Llgl2 T C 11: 115,851,066 S645P probably damaging Het
Lrrc15 T C 16: 30,273,831 E230G probably benign Het
Magel2 C A 7: 62,378,415 Q356K possibly damaging Het
Mcm6 A G 1: 128,345,989 V368A probably benign Het
Myh8 G A 11: 67,279,004 V50M possibly damaging Het
Myrf A T 19: 10,218,190 F419I possibly damaging Het
Nrbp1 T A 5: 31,245,813 I210N probably damaging Het
Olfr1330 G A 4: 118,893,340 V86M probably benign Het
Olfr556 A G 7: 102,670,477 M186V probably benign Het
Otud4 G A 8: 79,646,332 R93H probably damaging Het
Pank4 T A 4: 154,972,520 M390K probably benign Het
Pecam1 A G 11: 106,685,203 V401A probably damaging Het
Prdm6 C A 18: 53,536,724 T138K possibly damaging Het
Prl2c2 G C 13: 13,002,201 T47R probably damaging Het
Prpf8 A G 11: 75,496,511 E1206G possibly damaging Het
Prr30 A T 14: 101,197,941 I395N probably benign Het
Rab27a G A 9: 73,075,469 G19R probably damaging Het
Rrp12 A G 19: 41,892,590 V134A probably damaging Het
Scube3 T C 17: 28,164,300 S439P possibly damaging Het
Shf G A 2: 122,368,682 P51S probably damaging Het
Sipa1l1 T C 12: 82,341,459 F153S probably damaging Het
Slc25a30 T G 14: 75,769,567 K163T possibly damaging Het
Slc26a8 T A 17: 28,644,640 D715V probably benign Het
Smr2 AT ATT 5: 88,108,824 probably null Het
Smr2 C CT 5: 88,108,826 probably null Het
Sp6 T G 11: 97,022,114 S218A probably benign Het
Spata21 T C 4: 141,111,405 V589A probably damaging Het
Sycp2 T C 2: 178,402,800 I71V probably benign Het
Syne2 G T 12: 75,952,870 G2347C probably benign Het
Tenm2 C T 11: 36,063,177 G1236R possibly damaging Het
Thbs4 A T 13: 92,769,571 N387K probably damaging Het
Tmem184a T C 5: 139,807,626 D216G probably damaging Het
Tprg T A 16: 25,317,348 S30T possibly damaging Het
Trip12 A T 1: 84,760,801 W778R probably damaging Het
Ttpa T C 4: 20,008,633 L65P probably damaging Het
Ush2a A T 1: 188,755,185 N3050I probably damaging Het
Xpot T C 10: 121,619,148 I30V probably benign Het
Zfp944 A G 17: 22,339,700 S189P probably benign Het
Other mutations in Scly
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Scly APN 1 91319041 missense probably benign 0.00
IGL02690:Scly APN 1 91305325 missense probably benign
R0597:Scly UTSW 1 91309833 missense probably damaging 1.00
R1782:Scly UTSW 1 91308380 missense probably damaging 1.00
R1978:Scly UTSW 1 91320169 missense probably damaging 0.98
R2290:Scly UTSW 1 91298450 critical splice donor site probably null
R3861:Scly UTSW 1 91302851 utr 3 prime probably benign
R4508:Scly UTSW 1 91308325 missense possibly damaging 0.95
R4876:Scly UTSW 1 91320128 missense probably damaging 0.98
R7035:Scly UTSW 1 91308403 missense probably damaging 0.98
X0021:Scly UTSW 1 91320106 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CACTGGCAGCTTTGGTGAAG -3'
(R):5'- AGCTTTATCCATAACAGCTGAACG -3'

Sequencing Primer
(F):5'- CAGCTTTGGTGAAGGCTCTCTC -3'
(R):5'- GCCATCAGCTTCTGAAGAGG -3'
Posted On2014-08-01