Incidental Mutation 'ANU23:Sft2d2'
ID 262621
Institutional Source Beutler Lab
Gene Symbol Sft2d2
Ensembl Gene ENSMUSG00000040848
Gene Name SFT2 domain containing 2
Synonyms cI-45, 2010005O13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # ANU23
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 165001906-165022007 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 165011564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 110 (A110E)
Ref Sequence ENSEMBL: ENSMUSP00000043537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043338] [ENSMUST00000192185] [ENSMUST00000192565]
AlphaFold Q8VD57
Predicted Effect probably benign
Transcript: ENSMUST00000043338
AA Change: A110E

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043537
Gene: ENSMUSG00000040848
AA Change: A110E

DomainStartEndE-ValueType
Pfam:Got1 29 154 5.8e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192185
Predicted Effect probably benign
Transcript: ENSMUST00000192565
SMART Domains Protein: ENSMUSP00000142241
Gene: ENSMUSG00000040848

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
low complexity region 101 114 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 98.2%
  • 10x: 96.6%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Akap12 G T 10: 4,303,273 (GRCm39) A28S probably benign Het
Anks1 C A 17: 28,205,227 (GRCm39) T262K probably damaging Het
Arfgap3 A G 15: 83,197,710 (GRCm39) Y349H possibly damaging Het
Cacna1g G A 11: 94,357,054 (GRCm39) probably benign Het
Camsap2 T A 1: 136,225,528 (GRCm39) E199D probably benign Het
Ccdc13 A T 9: 121,656,429 (GRCm39) M128K probably benign Het
Ccdc38 T C 10: 93,405,797 (GRCm39) probably null Het
Cep95 G A 11: 106,704,641 (GRCm39) V499I probably benign Het
Cpne6 G C 14: 55,749,459 (GRCm39) M6I probably benign Het
Cpne6 A T 14: 55,752,706 (GRCm39) I299F probably damaging Het
Cse1l T A 2: 166,769,428 (GRCm39) Y278* probably null Het
Dip2c A G 13: 9,625,179 (GRCm39) N558D possibly damaging Het
Edar A T 10: 58,464,460 (GRCm39) C60S probably damaging Het
Fat2 T C 11: 55,201,698 (GRCm39) N459D probably benign Het
Fbxw8 C T 5: 118,251,785 (GRCm39) V243M possibly damaging Het
Fem1b G A 9: 62,704,810 (GRCm39) A150V possibly damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Gpatch3 CAGGAGGAGGAGGAGGAG CAGGAGGAGGAGGAG 4: 133,305,613 (GRCm39) probably benign Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign Het
Idh3a T A 9: 54,493,829 (GRCm39) probably null Het
Itpk1 T C 12: 102,572,362 (GRCm39) E117G probably damaging Het
Kif12 G T 4: 63,084,121 (GRCm39) P627Q probably damaging Het
Krtap15-1 T A 16: 88,626,255 (GRCm39) F88L probably benign Het
Mcm7 C T 5: 138,168,653 (GRCm39) V13I probably benign Het
Mlh1 T C 9: 111,081,980 (GRCm39) N248D possibly damaging Het
Or2i1 T C 17: 37,507,833 (GRCm39) N342S probably benign Het
Or4k15 A G 14: 50,364,039 (GRCm39) N2D probably benign Het
Or52z12 T C 7: 103,233,900 (GRCm39) Y224H probably damaging Het
Per2 T C 1: 91,376,555 (GRCm39) H106R probably damaging Het
Pfkl T A 10: 77,827,229 (GRCm39) T486S probably benign Het
Prkdc T C 16: 15,485,595 (GRCm39) V474A possibly damaging Het
Scamp4 C A 10: 80,445,256 (GRCm39) Q34K probably damaging Het
Serpinb3b A G 1: 107,082,395 (GRCm39) Y290H probably damaging Het
Siglecf T A 7: 43,001,377 (GRCm39) L115* probably null Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Slco1a1 T A 6: 141,892,313 (GRCm39) K18* probably null Het
Spata1 A T 3: 146,193,154 (GRCm39) Y112* probably null Het
Tbc1d32 G A 10: 56,056,620 (GRCm39) T440I probably benign Het
Vmn1r159 A G 7: 22,542,588 (GRCm39) V148A probably damaging Het
Wnt16 C T 6: 22,297,934 (GRCm39) R267C probably damaging Het
Xylt1 A C 7: 117,148,125 (GRCm39) S230R probably benign Het
Zfp334 T C 2: 165,223,017 (GRCm39) H342R probably damaging Het
Other mutations in Sft2d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Sft2d2 APN 1 165,011,564 (GRCm39) missense probably benign 0.43
R0092:Sft2d2 UTSW 1 165,006,829 (GRCm39) missense possibly damaging 0.94
R0601:Sft2d2 UTSW 1 165,011,430 (GRCm39) missense probably benign 0.02
R2045:Sft2d2 UTSW 1 165,012,647 (GRCm39) missense probably damaging 1.00
R4308:Sft2d2 UTSW 1 165,015,833 (GRCm39) missense probably benign 0.40
R4557:Sft2d2 UTSW 1 165,011,553 (GRCm39) missense probably damaging 0.97
R5632:Sft2d2 UTSW 1 165,012,657 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGTGACCGCTCAAGGAGGCTAAC -3'
(R):5'- TGGCTGTGAGGCTGACATCTCAAG -3'

Sequencing Primer
(F):5'- AAGAGCTTCTGGGTGTTCCTAAC -3'
(R):5'- ACTTGTCCAGAAAGGTGCTC -3'
Posted On 2015-02-04