Incidental Mutation 'R4557:Sft2d2'
ID341889
Institutional Source Beutler Lab
Gene Symbol Sft2d2
Ensembl Gene ENSMUSG00000040848
Gene NameSFT2 domain containing 2
SynonymscI-45, 2010005O13Rik
MMRRC Submission 041784-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #R4557 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location165174337-165194438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 165183984 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 114 (C114R)
Ref Sequence ENSEMBL: ENSMUSP00000043537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043338] [ENSMUST00000192185] [ENSMUST00000192565]
Predicted Effect probably damaging
Transcript: ENSMUST00000043338
AA Change: C114R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043537
Gene: ENSMUSG00000040848
AA Change: C114R

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
Meta Mutation Damage Score 0.8901 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T C 13: 48,514,461 probably benign Het
Acad11 T C 9: 104,082,839 F219L probably benign Het
Adamts16 G A 13: 70,779,518 probably benign Het
Adamts17 A T 7: 67,027,893 E518D probably damaging Het
Adamts3 A G 5: 89,700,487 Y659H probably benign Het
Adgrb3 T C 1: 25,084,279 R1414G probably damaging Het
Apba1 T A 19: 23,917,592 I464N probably damaging Het
Bahcc1 A G 11: 120,275,088 T1057A probably damaging Het
Bcl11a A G 11: 24,164,004 E449G probably damaging Het
Ccdc162 T A 10: 41,587,388 I1453L probably benign Het
Ccdc175 T A 12: 72,128,306 E531V probably benign Het
Cep68 A T 11: 20,239,113 probably benign Het
Dlgap1 C A 17: 70,516,689 T223K probably benign Het
Exoc1 G A 5: 76,561,443 V24M probably damaging Het
Fbxo4 A G 15: 3,965,705 *386R probably null Het
Gm10100 G A 10: 77,726,531 probably benign Het
Gpr149 A G 3: 62,530,870 V622A probably damaging Het
Gpr149 A C 3: 62,604,497 M27R probably benign Het
Ighv3-6 T C 12: 114,288,198 N101D probably benign Het
Igkv4-78 A G 6: 69,059,771 S93P possibly damaging Het
Kmt2c A T 5: 25,300,315 W3332R probably damaging Het
Marf1 T C 16: 14,153,977 probably benign Het
Mcrs1 A G 15: 99,243,147 I459T probably benign Het
Mdn1 G T 4: 32,754,437 C4646F probably damaging Het
Med17 T C 9: 15,271,697 K351E possibly damaging Het
Nalcn T C 14: 123,321,235 probably benign Het
Olfr389 G A 11: 73,776,481 T282I possibly damaging Het
Olfr398 A T 11: 73,984,599 V3E probably benign Het
Olfr761 C A 17: 37,952,251 A258S probably benign Het
Olfr816 A G 10: 129,911,529 Y250H probably damaging Het
Phrf1 C T 7: 141,258,929 probably benign Het
Pitpnm1 A G 19: 4,103,085 Q135R probably benign Het
Prdm16 T A 4: 154,528,827 M48L probably benign Het
Ptpn13 A G 5: 103,541,110 E923G probably damaging Het
Rp1 A T 1: 4,344,663 S2075R possibly damaging Het
Sipa1l2 T G 8: 125,464,415 R945S probably damaging Het
Slc12a1 A G 2: 125,186,641 N517S probably damaging Het
Slc44a2 T G 9: 21,346,783 L443R possibly damaging Het
Smok4a T C 17: 13,526,381 noncoding transcript Het
Snx18 A G 13: 113,617,828 S190P probably damaging Het
Thap12 A G 7: 98,715,845 N407D probably benign Het
Tmc5 T C 7: 118,670,733 I902T probably benign Het
Ttc27 T G 17: 74,829,549 S584A probably benign Het
Ttn A T 2: 76,949,015 Y1174N probably damaging Het
Zbtb44 T G 9: 31,064,248 S391R probably damaging 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
R4308:Sft2d2 UTSW 1 165188264 missense probably benign 0.40
R5632:Sft2d2 UTSW 1 165185088 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTTCCCTCCGTGAGTCAGAG -3'
(R):5'- TGCAGACATTTAGGGAAAGCTG -3'

Sequencing Primer
(F):5'- TCCGTGAGTCAGAGGCAGG -3'
(R):5'- GCTGAAATGTAGAAGCTCAGC -3'
Posted On2015-09-24