Incidental Mutation 'R4308:Sft2d2'
ID324083
Institutional Source Beutler Lab
Gene Symbol Sft2d2
Ensembl Gene ENSMUSG00000040848
Gene NameSFT2 domain containing 2
SynonymscI-45, 2010005O13Rik
MMRRC Submission 041659-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #R4308 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location165174337-165194438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 165188264 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 45 (I45T)
Ref Sequence ENSEMBL: ENSMUSP00000142241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043338] [ENSMUST00000192185] [ENSMUST00000192565]
Predicted Effect probably benign
Transcript: ENSMUST00000043338
AA Change: I45T

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000043537
Gene: ENSMUSG00000040848
AA Change: I45T

DomainStartEndE-ValueType
Pfam:Got1 29 154 5.8e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192185
AA Change: I45T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000192565
AA Change: I45T

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142241
Gene: ENSMUSG00000040848
AA Change: I45T

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
low complexity region 101 114 N/A INTRINSIC
Meta Mutation Damage Score 0.078 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,440,192 T4425M probably damaging Het
Arhgef5 C T 6: 43,279,498 A1180V probably damaging Het
Asap2 T C 12: 21,229,481 I426T probably damaging Het
Ascc1 T G 10: 60,013,612 H108Q probably benign Het
Bod1l A T 5: 41,791,813 S2989T possibly damaging Het
Cfap157 G A 2: 32,779,042 R350W probably damaging Het
Cyp39a1 T A 17: 43,730,964 probably null Het
Dars2 A G 1: 161,041,721 S653P probably damaging Het
Fam208b A C 13: 3,569,498 S2244R probably damaging Het
Fancm A T 12: 65,126,531 K1872N probably benign Het
Fktn C T 4: 53,724,617 probably benign Het
Gpr33 A T 12: 52,023,640 C205* probably null Het
Gsdmc2 A G 15: 63,848,705 probably benign Het
Il31 A G 5: 123,480,706 S6P probably damaging Het
Iqca T C 1: 90,144,897 K87R probably damaging Het
Kif15 T G 9: 123,013,982 H47Q probably benign Het
L3mbtl3 C T 10: 26,282,792 A653T unknown Het
Lamb1 T C 12: 31,329,255 L1737P probably damaging Het
Map2k5 C G 9: 63,235,304 R353S probably benign Het
Mical2 C A 7: 112,331,992 L721I probably benign Het
Myo1b T C 1: 51,883,109 K37E probably benign Het
Myo5b A G 18: 74,731,740 D1369G possibly damaging Het
Npc1 C T 18: 12,210,527 A470T possibly damaging Het
Olfr1148 T C 2: 87,833,270 I77T probably damaging Het
Olfr116 C T 17: 37,623,736 V300I possibly damaging Het
Pcdhb1 A T 18: 37,266,661 D555V probably benign Het
Prr27 A G 5: 87,842,907 H126R probably benign Het
Rbm20 A G 19: 53,843,260 S642G probably damaging Het
Rnf144b A G 13: 47,242,942 N252D probably damaging Het
Rnf219 T A 14: 104,479,593 N448I probably damaging Het
Rwdd2b A T 16: 87,436,727 W162R probably damaging Het
Scaf11 A G 15: 96,446,515 M19T probably benign Het
Skint5 A T 4: 113,483,967 H1371Q unknown Het
Tas2r124 A G 6: 132,754,991 I88V probably benign Het
Ubr4 T C 4: 139,472,509 V4568A possibly damaging Het
Vmn2r12 A G 5: 109,086,006 L780P probably damaging Het
Vmn2r18 A T 5: 151,584,803 Y285* probably null Het
Wnk2 C T 13: 49,090,837 D508N probably damaging Het
Zfp983 A G 17: 21,662,208 I351V probably benign Het
Other mutations in Sft2d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Sft2d2 APN 1 165183995 missense probably benign 0.43
ANU23:Sft2d2 UTSW 1 165183995 missense probably benign 0.43
R0092:Sft2d2 UTSW 1 165179260 missense possibly damaging 0.94
R0601:Sft2d2 UTSW 1 165183861 missense probably benign 0.02
R2045:Sft2d2 UTSW 1 165185078 missense probably damaging 1.00
R4557:Sft2d2 UTSW 1 165183984 missense probably damaging 0.97
R5632:Sft2d2 UTSW 1 165185088 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTAAAACACTGCAAAGAGGCC -3'
(R):5'- ATTGGCCCTTCAGACCATC -3'

Sequencing Primer
(F):5'- TGCACTTGAGCACAGTGAC -3'
(R):5'- GGCCCTTCAGACCATCTCTAAC -3'
Posted On2015-06-24