Incidental Mutation 'R5854:Sft2d1'
ID 454839
Institutional Source Beutler Lab
Gene Symbol Sft2d1
Ensembl Gene ENSMUSG00000073468
Gene Name SFT2 domain containing 1
Synonyms 5630401J11Rik
MMRRC Submission 043228-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R5854 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 8529934-8546274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8539485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 96 (T96I)
Ref Sequence ENSEMBL: ENSMUSP00000117294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000130782] [ENSMUST00000145276] [ENSMUST00000154553]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128087
Predicted Effect probably benign
Transcript: ENSMUST00000130782
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
Predicted Effect probably damaging
Transcript: ENSMUST00000154553
AA Change: T96I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117294
Gene: ENSMUSG00000073468
AA Change: T96I

DomainStartEndE-ValueType
Pfam:Got1 43 154 3.5e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153406
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Atg4c G A 4: 99,116,796 (GRCm39) V313I probably benign Het
Ccdc18 A G 5: 108,354,594 (GRCm39) E1111G possibly damaging Het
Chuk T C 19: 44,070,396 (GRCm39) H573R probably benign Het
Cst13 A G 2: 148,670,094 (GRCm39) N88S probably benign Het
Dalrd3 T C 9: 108,447,276 (GRCm39) probably null Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dsp A G 13: 38,351,477 (GRCm39) probably null Het
Fbxo41 A G 6: 85,452,076 (GRCm39) L810P probably damaging Het
Fcrlb T C 1: 170,735,530 (GRCm39) Y248C probably damaging Het
Gmcl1 A G 6: 86,691,241 (GRCm39) silent Het
Gtf3c3 C A 1: 54,458,596 (GRCm39) A442S probably benign Het
Hdac4 T C 1: 91,887,143 (GRCm39) S799G probably damaging Het
Hnrnpa2b1 C G 6: 51,443,589 (GRCm39) probably benign Het
Hnrnpab T C 11: 51,495,508 (GRCm39) E177G probably damaging Het
Knl1 A G 2: 118,900,884 (GRCm39) I862V probably benign Het
Lonp2 T A 8: 87,399,699 (GRCm39) probably null Het
Map3k19 G T 1: 127,758,092 (GRCm39) P363T probably damaging Het
Morn3 A G 5: 123,179,178 (GRCm39) Y91H probably damaging Het
Myom2 A G 8: 15,158,478 (GRCm39) D810G probably benign Het
Nans A G 4: 46,500,180 (GRCm39) Y188C probably damaging Het
Ndufs1 A T 1: 63,186,548 (GRCm39) D1E probably benign Het
Nelfb T C 2: 25,100,005 (GRCm39) N204S probably damaging Het
Noxo1 T C 17: 24,917,516 (GRCm39) S31P probably damaging Het
Or13a20 A G 7: 140,232,491 (GRCm39) M200V probably benign Het
Or5af1 T A 11: 58,722,382 (GRCm39) M134K probably damaging Het
Or8b50 T C 9: 38,517,959 (GRCm39) L66S probably damaging Het
Pkd1l2 T G 8: 117,792,485 (GRCm39) T436P possibly damaging Het
Pkhd1l1 A G 15: 44,445,186 (GRCm39) D3686G probably damaging Het
Ppp2r5b A G 19: 6,280,974 (GRCm39) L285S probably damaging Het
Pzp A T 6: 128,483,832 (GRCm39) V522D probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rpe65 A G 3: 159,321,313 (GRCm39) D375G probably benign Het
Sacs C T 14: 61,448,996 (GRCm39) L3681F probably damaging Het
Slc12a7 A G 13: 73,942,059 (GRCm39) N312D probably benign Het
Spaca6 A T 17: 18,051,509 (GRCm39) K82* probably null Het
Stk32c A G 7: 138,768,195 (GRCm39) probably benign Het
Tet2 T A 3: 133,193,646 (GRCm39) N263Y probably damaging Het
Uxs1 T C 1: 43,819,233 (GRCm39) N190S probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Sft2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Sft2d1 APN 17 8,539,437 (GRCm39) missense possibly damaging 0.95
PIT4131001:Sft2d1 UTSW 17 8,609,863 (GRCm39) missense possibly damaging 0.46
R0244:Sft2d1 UTSW 17 8,538,254 (GRCm39) missense probably benign 0.05
R0571:Sft2d1 UTSW 17 8,545,782 (GRCm39) splice site probably benign
R1263:Sft2d1 UTSW 17 8,539,470 (GRCm39) missense probably benign 0.01
R3922:Sft2d1 UTSW 17 8,537,714 (GRCm39) missense possibly damaging 0.78
R4388:Sft2d1 UTSW 17 8,539,469 (GRCm39) missense possibly damaging 0.82
R6833:Sft2d1 UTSW 17 8,537,707 (GRCm39) missense possibly damaging 0.91
R7188:Sft2d1 UTSW 17 8,542,164 (GRCm39) missense possibly damaging 0.59
R9417:Sft2d1 UTSW 17 8,542,139 (GRCm39) missense probably damaging 0.99
R9663:Sft2d1 UTSW 17 8,545,812 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGAGGTGTTTAAGGCCAGCC -3'
(R):5'- AGCCAATTACACTAAACAGTGCTG -3'

Sequencing Primer
(F):5'- GCCTAAGCTTTGTCCCAAACAG -3'
(R):5'- TGTACAAGCCAGGTCCTTTAAC -3'
Posted On 2017-02-10