Incidental Mutation 'IGL00419:Sft2d1'
ID29219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sft2d1
Ensembl Gene ENSMUSG00000073468
Gene NameSFT2 domain containing 1
Synonyms5630401J11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL00419
Quality Score
Status
Chromosome17
Chromosomal Location8311102-8396852 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 8320605 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 80 (C80Y)
Ref Sequence ENSEMBL: ENSMUSP00000117294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000130782] [ENSMUST00000145276] [ENSMUST00000154553]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128087
Predicted Effect probably benign
Transcript: ENSMUST00000130782
AA Change: M23I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141213
Predicted Effect probably benign
Transcript: ENSMUST00000145276
AA Change: M23I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153406
Predicted Effect possibly damaging
Transcript: ENSMUST00000154553
AA Change: C80Y

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117294
Gene: ENSMUSG00000073468
AA Change: C80Y

DomainStartEndE-ValueType
Pfam:Got1 43 154 3.5e-41 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1a4 A C 1: 172,239,806 N586K probably damaging Het
AU040320 T C 4: 126,792,234 M201T probably benign Het
Bcap29 A T 12: 31,630,872 F38L probably benign Het
Bdkrb2 A G 12: 105,588,303 probably benign Het
Ceacam5 G T 7: 17,759,556 E835* probably null Het
Cenpp T C 13: 49,647,656 probably null Het
Clca2 A G 3: 145,098,813 V51A probably damaging Het
Dmxl2 T C 9: 54,406,667 N1660D probably damaging Het
Exosc9 T C 3: 36,553,139 probably benign Het
Ezh1 T C 11: 101,194,506 probably null Het
Fbxo24 G A 5: 137,624,301 R68C probably damaging Het
Gbp9 T C 5: 105,094,077 I205V probably benign Het
Gpc5 A G 14: 115,370,024 Y346C probably damaging Het
Hectd1 A G 12: 51,764,035 Y1706H probably damaging Het
Igsf9b A G 9: 27,319,655 Y318C probably damaging Het
Map1a A T 2: 121,299,027 Q182L probably damaging Het
Rab11fip3 A T 17: 25,991,809 probably benign Het
Rbm20 G A 19: 53,843,264 R643Q probably damaging Het
Ros1 A T 10: 52,091,054 C1707S probably damaging Het
Rpgrip1l G T 8: 91,263,574 R747S possibly damaging Het
Rsph10b T C 5: 143,937,087 *166R probably null Het
Zdhhc14 T C 17: 5,752,684 probably benign Het
Zfp300 T A X: 21,082,292 Y411F probably damaging Het
Zfp92 T C X: 73,420,158 probably benign Het
Zhx1 A G 15: 58,053,315 F512L probably damaging Het
Other mutations in Sft2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4131001:Sft2d1 UTSW 17 8391031 missense possibly damaging 0.46
R0244:Sft2d1 UTSW 17 8319422 missense probably benign 0.05
R0571:Sft2d1 UTSW 17 8326950 splice site probably benign
R1263:Sft2d1 UTSW 17 8320638 missense probably benign 0.01
R3922:Sft2d1 UTSW 17 8318882 missense possibly damaging 0.78
R4388:Sft2d1 UTSW 17 8320637 missense possibly damaging 0.82
R5854:Sft2d1 UTSW 17 8320653 missense probably damaging 0.98
R6833:Sft2d1 UTSW 17 8318875 missense possibly damaging 0.91
R7188:Sft2d1 UTSW 17 8323332 missense possibly damaging 0.59
Posted On2013-04-17