Incidental Mutation 'R9417:Sft2d1'
ID 712137
Institutional Source Beutler Lab
Gene Symbol Sft2d1
Ensembl Gene ENSMUSG00000073468
Gene Name SFT2 domain containing 1
Synonyms 5630401J11Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R9417 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 8529934-8546274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8542139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 128 (C128S)
Ref Sequence ENSEMBL: ENSMUSP00000117294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000130782] [ENSMUST00000145276] [ENSMUST00000154553]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000130782
Predicted Effect probably benign
Transcript: ENSMUST00000145276
Predicted Effect probably damaging
Transcript: ENSMUST00000154553
AA Change: C128S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117294
Gene: ENSMUSG00000073468
AA Change: C128S

DomainStartEndE-ValueType
Pfam:Got1 43 154 3.5e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik A G 4: 88,786,202 (GRCm39) Y139H unknown Het
Akr1b10 T C 6: 34,371,027 (GRCm39) V259A probably benign Het
Aldh5a1 A T 13: 25,095,673 (GRCm39) N481K probably damaging Het
Ankrd26 A T 6: 118,504,725 (GRCm39) M728K possibly damaging Het
Asic1 A G 15: 99,590,405 (GRCm39) M52V probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cacna2d2 C A 9: 107,392,689 (GRCm39) Y544* probably null Het
Cdcp3 A G 7: 130,852,218 (GRCm39) D818G possibly damaging Het
Chd4 A G 6: 125,097,688 (GRCm39) N1403S probably damaging Het
Cldn4 G T 5: 134,975,174 (GRCm39) N142K probably benign Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Dll1 T C 17: 15,593,710 (GRCm39) Y219C probably damaging Het
Dnah2 T A 11: 69,326,990 (GRCm39) I3539F probably damaging Het
Egfr T A 11: 16,825,067 (GRCm39) L469* probably null Het
Elmo1 A G 13: 20,756,573 (GRCm39) N554D possibly damaging Het
Fam234a A C 17: 26,435,225 (GRCm39) F306L probably benign Het
Fbl G A 7: 27,874,052 (GRCm39) G45D unknown Het
Fbxw10 C A 11: 62,753,522 (GRCm39) C505* probably null Het
Ftcd G A 10: 76,417,153 (GRCm39) G221S probably damaging Het
Gad1 A G 2: 70,417,716 (GRCm39) D305G possibly damaging Het
Gdpd4 A G 7: 97,607,074 (GRCm39) D16G probably benign Het
Gsdmc3 T A 15: 63,738,663 (GRCm39) D133V possibly damaging Het
Hpdl T C 4: 116,677,817 (GRCm39) T215A possibly damaging Het
Ift56 T C 6: 38,386,386 (GRCm39) F369S probably damaging Het
Igsf10 A T 3: 59,236,526 (GRCm39) N1218K possibly damaging Het
Isg20 C T 7: 78,569,605 (GRCm39) P192L probably benign Het
Itga7 C T 10: 128,793,543 (GRCm39) T126M unknown Het
Krr1 A G 10: 111,813,026 (GRCm39) I134V probably benign Het
Krt71 T A 15: 101,646,731 (GRCm39) T326S probably benign Het
Lamb1 T A 12: 31,337,983 (GRCm39) V480E probably damaging Het
Mmp19 T A 10: 128,630,523 (GRCm39) L102Q possibly damaging Het
Mtor T A 4: 148,622,776 (GRCm39) L1952* probably null Het
Myo15a T A 11: 60,378,243 (GRCm39) V215E Het
Nfs1 T A 2: 155,965,851 (GRCm39) K77* probably null Het
Or52s1 A T 7: 102,861,156 (GRCm39) I30F possibly damaging Het
Or9a4 T A 6: 40,549,096 (GRCm39) Y259N Het
Pcdhga4 T C 18: 37,820,560 (GRCm39) F703S probably damaging Het
Pdzd7 A G 19: 45,034,022 (GRCm39) S21P probably damaging Het
Pitrm1 A T 13: 6,617,394 (GRCm39) I583F possibly damaging Het
Ppox A G 1: 171,107,855 (GRCm39) L77P unknown Het
Ppp1r37 G T 7: 19,269,658 (GRCm39) R114S probably damaging Het
Ppp4r3b T C 11: 29,144,598 (GRCm39) V316A probably benign Het
Ptprd A G 4: 75,865,335 (GRCm39) I1214T probably damaging Het
Rasal3 A G 17: 32,615,441 (GRCm39) F466L probably benign Het
Ric8b A T 10: 84,761,447 (GRCm39) D41V probably benign Het
Rin2 T C 2: 145,686,713 (GRCm39) S81P probably benign Het
Skint1 T C 4: 111,878,509 (GRCm39) V147A probably benign Het
Slc9c1 T C 16: 45,413,848 (GRCm39) V992A probably benign Het
Sst A G 16: 23,708,487 (GRCm39) S115P probably damaging Het
Sv2b G T 7: 74,769,772 (GRCm39) S590Y probably damaging Het
Syne1 C T 10: 5,082,021 (GRCm39) V868I probably benign Het
Tex35 T C 1: 156,934,789 (GRCm39) I42V possibly damaging Het
Tlr2 T C 3: 83,744,892 (GRCm39) N397S probably damaging Het
Tmem202 A G 9: 59,431,999 (GRCm39) probably null Het
Usp20 A G 2: 30,873,030 (GRCm39) probably null Het
Usp32 C T 11: 84,885,369 (GRCm39) R1226Q probably damaging Het
Usp47 C T 7: 111,688,801 (GRCm39) A736V possibly damaging Het
Vmn2r-ps117 T A 17: 19,044,037 (GRCm39) L371* probably null Het
Wwp1 T A 4: 19,662,215 (GRCm39) N127Y possibly damaging Het
Yae1d1 A T 13: 18,167,770 (GRCm39) V41D probably damaging Het
Zbtb8b T C 4: 129,326,517 (GRCm39) D216G probably benign Het
Zfp462 T C 4: 55,016,988 (GRCm39) S903P probably benign Het
Zranb1 G A 7: 132,585,466 (GRCm39) G638D 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
R5854:Sft2d1 UTSW 17 8,539,485 (GRCm39) missense probably damaging 0.98
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
R9663:Sft2d1 UTSW 17 8,545,812 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTTGCATACAGTCACTTATGCTGTG -3'
(R):5'- AATGGGCCTCACTCCATCTG -3'

Sequencing Primer
(F):5'- ATTTAAGATAATAGGGATGGCATTGG -3'
(R):5'- GCCTTTGCAGGAATCTGGATCAC -3'
Posted On 2022-05-16