Incidental Mutation 'R3979:Sft2d1rt'
ID 311199
Institutional Source Beutler Lab
Gene Symbol Sft2d1rt
Ensembl Gene ENSMUSG00000069899
Gene Name SFT2 domain containing 1, retrotransposed
Synonyms Gm12166
MMRRC Submission 040942-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.459) question?
Stock # R3979 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 45942181-45943148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45942853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 90 (K90M)
Ref Sequence ENSEMBL: ENSMUSP00000090857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011400] [ENSMUST00000093169]
AlphaFold Q5SSN7
Predicted Effect probably benign
Transcript: ENSMUST00000011400
SMART Domains Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Pep_M12B_propep 32 163 9.4e-27 PFAM
Pfam:Reprolysin_5 209 388 1.9e-25 PFAM
Pfam:Reprolysin_4 209 399 1.5e-15 PFAM
Pfam:Reprolysin 211 409 1.3e-68 PFAM
Pfam:Reprolysin_2 231 399 6.1e-19 PFAM
Pfam:Reprolysin_3 235 357 1.2e-19 PFAM
DISIN 426 501 9.7e-41 SMART
ACR 502 650 7.46e-62 SMART
transmembrane domain 704 726 N/A INTRINSIC
low complexity region 788 797 N/A INTRINSIC
low complexity region 832 846 N/A INTRINSIC
low complexity region 886 905 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000093169
AA Change: K90M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090857
Gene: ENSMUSG00000069899
AA Change: K90M

DomainStartEndE-ValueType
Pfam:Got1 43 154 3.5e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154156
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,154,320 (GRCm39) V82A probably benign Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Ak3 T A 19: 29,025,118 (GRCm39) S38C probably damaging Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
Arhgap10 T C 8: 78,147,354 (GRCm39) N170S probably benign Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Bicral T A 17: 47,141,917 (GRCm39) M1L unknown Het
Bop1 A G 15: 76,338,076 (GRCm39) L598P probably damaging Het
Cachd1 A T 4: 100,828,085 (GRCm39) D611V probably damaging Het
Cfap70 T A 14: 20,489,787 (GRCm39) E246D probably benign Het
Chl1 T A 6: 103,692,245 (GRCm39) Y294* probably null Het
Chrna2 T A 14: 66,386,402 (GRCm39) Y183N probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Dnajb6 T C 5: 29,956,006 (GRCm39) F46L possibly damaging Het
Exoc7 T C 11: 116,187,588 (GRCm39) E275G probably benign Het
Frem2 A G 3: 53,559,491 (GRCm39) I1672T probably benign Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
H2-M10.4 A G 17: 36,772,877 (GRCm39) V35A probably benign Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Iffo1 A G 6: 125,137,552 (GRCm39) probably benign Het
Iqgap1 G A 7: 80,409,682 (GRCm39) H218Y probably damaging Het
Itpr3 A C 17: 27,304,105 (GRCm39) K109Q probably benign Het
Itpr3 A G 17: 27,310,546 (GRCm39) D443G probably damaging Het
Katna1 T C 10: 7,628,518 (GRCm39) M249T probably damaging Het
Klk1b4 G A 7: 43,861,017 (GRCm39) G220D probably damaging Het
Krt24 A G 11: 99,173,596 (GRCm39) C242R probably benign Het
Madd G A 2: 91,007,173 (GRCm39) T313I possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mical2 A G 7: 112,006,885 (GRCm39) probably null Het
Neil3 T C 8: 54,076,699 (GRCm39) T79A probably damaging Het
Nras A G 3: 102,967,541 (GRCm39) I46V probably benign Het
Or2w1b T A 13: 21,300,031 (GRCm39) H56Q probably benign Het
Or4a66 T C 2: 88,530,792 (GRCm39) S294G probably benign Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Rarres1 A G 3: 67,403,143 (GRCm39) V86A probably benign Het
Rdh19 A T 10: 127,685,944 (GRCm39) R19W possibly damaging Het
Rock2 A G 12: 17,022,737 (GRCm39) K1059E probably damaging Het
Sparcl1 T C 5: 104,240,647 (GRCm39) H259R probably benign Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Stab2 T C 10: 86,699,320 (GRCm39) D515G possibly damaging Het
Sycp2l A G 13: 41,295,440 (GRCm39) I334M probably damaging Het
Tas2r103 A G 6: 133,013,280 (GRCm39) L262P probably benign Het
Tasor T C 14: 27,199,087 (GRCm39) L1335S possibly damaging Het
Tcaf2 A G 6: 42,619,481 (GRCm39) V182A probably damaging Het
Tcof1 C T 18: 60,964,605 (GRCm39) E674K possibly damaging Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Ttn A T 2: 76,575,738 (GRCm39) W25052R probably damaging Het
Ubr1 T A 2: 120,693,168 (GRCm39) N1746I probably benign Het
Vax2 T C 6: 83,714,529 (GRCm39) V148A probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r96 T A 17: 18,817,941 (GRCm39) I698N probably damaging Het
Wdr90 A G 17: 26,078,252 (GRCm39) V372A probably benign Het
Zfp335 C T 2: 164,752,558 (GRCm39) G62D probably benign Het
Zfp563 G A 17: 33,324,701 (GRCm39) R432H probably benign Het
Zhx1 T C 15: 57,916,636 (GRCm39) T537A probably benign Het
Other mutations in Sft2d1rt
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0128:Sft2d1rt UTSW 11 45,943,120 (GRCm39) start codon destroyed probably null 0.94
R1141:Sft2d1rt UTSW 11 45,942,781 (GRCm39) missense possibly damaging 0.94
R4575:Sft2d1rt UTSW 11 45,942,679 (GRCm39) missense probably damaging 0.99
R4901:Sft2d1rt UTSW 11 45,942,656 (GRCm39) missense probably damaging 0.97
R6807:Sft2d1rt UTSW 11 45,942,859 (GRCm39) missense probably damaging 1.00
R7839:Sft2d1rt UTSW 11 45,942,887 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- CTCCTGCGACTTTCAACCCAAG -3'
(R):5'- CACCAGGTTGAAGTGGTTTGTC -3'

Sequencing Primer
(F):5'- CGACTTTCAACCCAAGAGTGAGG -3'
(R):5'- ACCAGGTTGAAGTGGTTTGTCATATG -3'
Posted On 2015-04-29