Incidental Mutation 'IGL03261:Smyd5'
ID414822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smyd5
Ensembl Gene ENSMUSG00000033706
Gene NameSET and MYND domain containing 5
SynonymsNN8-4AG, Rai15, Rrg1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03261
Quality Score
Status
Chromosome6
Chromosomal Location85431989-85446435 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 85432018 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 5 (M5K)
Ref Sequence ENSEMBL: ENSMUSP00000048537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045693] [ENSMUST00000089578]
Predicted Effect probably benign
Transcript: ENSMUST00000045693
AA Change: M5K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000048537
Gene: ENSMUSG00000033706
AA Change: M5K

DomainStartEndE-ValueType
SET 21 357 8.15e-14 SMART
low complexity region 392 412 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089578
SMART Domains Protein: ENSMUSP00000087006
Gene: ENSMUSG00000068302

DomainStartEndE-ValueType
HOX 149 211 4.04e-22 SMART
low complexity region 213 225 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152218
Predicted Effect probably benign
Transcript: ENSMUST00000174469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204615
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T G 7: 27,580,438 Y281* probably null Het
5830411N06Rik A G 7: 140,294,833 H408R probably benign Het
Adamts3 T C 5: 89,882,897 probably benign Het
Afp T C 5: 90,491,751 probably null Het
Ap1g2 T C 14: 55,100,530 T634A probably benign Het
Cidec A G 6: 113,433,172 V32A probably benign Het
Dip2a G A 10: 76,305,148 P315S possibly damaging Het
Hoxc11 T C 15: 102,954,743 V73A probably benign Het
Jmjd1c A G 10: 67,232,070 Y1784C probably damaging Het
Mmp21 A G 7: 133,674,674 V480A probably benign Het
Nek4 C T 14: 30,975,290 T471I probably benign Het
Nr4a2 A G 2: 57,110,187 V299A probably benign Het
Olfr761 A T 17: 37,952,806 S73T possibly damaging Het
Olfr774 A G 10: 129,238,403 T85A possibly damaging Het
Ptprg A G 14: 12,225,552 D505G probably damaging Het
Rag2 A G 2: 101,630,263 D306G probably damaging Het
Rpap2 T A 5: 107,598,560 S38T possibly damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Slx4ip A T 2: 137,046,739 R113S probably benign Het
Stkld1 A T 2: 26,952,777 H587L probably benign Het
Taf4b A G 18: 14,821,528 T554A probably benign Het
Tex16 C A X: 112,118,855 D350E possibly damaging Het
Tex38 T C 4: 115,780,526 K27E possibly damaging Het
Trdv4 T C 14: 54,075,418 L83P possibly damaging Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Vmn1r120 A G 7: 21,053,525 L87P probably damaging Het
Zfp236 T C 18: 82,630,608 D916G possibly damaging Het
Other mutations in Smyd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03065:Smyd5 APN 6 85442164 missense possibly damaging 0.75
R0383:Smyd5 UTSW 6 85440173 nonsense probably null
R1957:Smyd5 UTSW 6 85438139 missense probably benign 0.01
R1988:Smyd5 UTSW 6 85438136 missense possibly damaging 0.93
R2049:Smyd5 UTSW 6 85444318 missense probably benign 0.01
R3499:Smyd5 UTSW 6 85438190 missense probably damaging 1.00
R3552:Smyd5 UTSW 6 85442211 missense probably damaging 0.99
R5092:Smyd5 UTSW 6 85445203 unclassified probably benign
R6114:Smyd5 UTSW 6 85440262 intron probably benign
R6581:Smyd5 UTSW 6 85432023 missense probably damaging 0.99
R7191:Smyd5 UTSW 6 85440111 missense probably benign 0.10
R7868:Smyd5 UTSW 6 85444315 missense probably damaging 1.00
Posted On2016-08-02