Incidental Mutation 'R9385:Sfi1'
ID 710272
Institutional Source Beutler Lab
Gene Symbol Sfi1
Ensembl Gene ENSMUSG00000023764
Gene Name Sfi1 homolog, spindle assembly associated (yeast)
Synonyms 2310047I15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R9385 (G1)
Quality Score 207.468
Status Not validated
Chromosome 11
Chromosomal Location 3081850-3143463 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) ACA to ACATCTTCCCAAAGCCAGTCA at 3103382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066391] [ENSMUST00000081318] [ENSMUST00000101655] [ENSMUST00000132893] [ENSMUST00000140846] [ENSMUST00000153425]
AlphaFold Q3UZY0
Predicted Effect probably benign
Transcript: ENSMUST00000066391
SMART Domains Protein: ENSMUSP00000067261
Gene: ENSMUSG00000023764

DomainStartEndE-ValueType
internal_repeat_2 34 236 4.95e-5 PROSPERO
internal_repeat_1 78 336 3.02e-14 PROSPERO
low complexity region 342 358 N/A INTRINSIC
internal_repeat_1 372 636 3.02e-14 PROSPERO
internal_repeat_2 574 804 4.95e-5 PROSPERO
low complexity region 809 821 N/A INTRINSIC
low complexity region 849 860 N/A INTRINSIC
coiled coil region 1086 1112 N/A INTRINSIC
coiled coil region 1138 1168 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081318
SMART Domains Protein: ENSMUSP00000080066
Gene: ENSMUSG00000023764

DomainStartEndE-ValueType
internal_repeat_3 55 275 2e-6 PROSPERO
internal_repeat_1 67 288 7.56e-9 PROSPERO
internal_repeat_2 93 401 1.18e-6 PROSPERO
internal_repeat_3 380 607 2e-6 PROSPERO
internal_repeat_1 428 651 7.56e-9 PROSPERO
internal_repeat_2 524 836 1.18e-6 PROSPERO
low complexity region 841 853 N/A INTRINSIC
low complexity region 881 892 N/A INTRINSIC
coiled coil region 1118 1144 N/A INTRINSIC
coiled coil region 1170 1200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101655
SMART Domains Protein: ENSMUSP00000099178
Gene: ENSMUSG00000023764

DomainStartEndE-ValueType
internal_repeat_3 55 275 1.77e-6 PROSPERO
internal_repeat_1 67 288 6.51e-9 PROSPERO
internal_repeat_2 93 401 1.04e-6 PROSPERO
internal_repeat_3 380 607 1.77e-6 PROSPERO
internal_repeat_1 428 651 6.51e-9 PROSPERO
internal_repeat_2 524 836 1.04e-6 PROSPERO
low complexity region 841 853 N/A INTRINSIC
low complexity region 881 892 N/A INTRINSIC
coiled coil region 1107 1133 N/A INTRINSIC
coiled coil region 1159 1189 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120853
Predicted Effect probably benign
Transcript: ENSMUST00000126746
SMART Domains Protein: ENSMUSP00000122002
Gene: ENSMUSG00000023764

DomainStartEndE-ValueType
low complexity region 73 89 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132893
SMART Domains Protein: ENSMUSP00000118419
Gene: ENSMUSG00000023764

DomainStartEndE-ValueType
low complexity region 210 223 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138126
Predicted Effect probably benign
Transcript: ENSMUST00000140846
SMART Domains Protein: ENSMUSP00000119905
Gene: ENSMUSG00000023764

DomainStartEndE-ValueType
internal_repeat_1 3 301 3.65e-15 PROSPERO
internal_repeat_2 12 320 8.53e-7 PROSPERO
internal_repeat_1 301 599 3.65e-15 PROSPERO
internal_repeat_2 443 755 8.53e-7 PROSPERO
low complexity region 760 772 N/A INTRINSIC
low complexity region 800 811 N/A INTRINSIC
coiled coil region 1026 1052 N/A INTRINSIC
coiled coil region 1078 1108 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144778
Predicted Effect probably benign
Transcript: ENSMUST00000153425
SMART Domains Protein: ENSMUSP00000121719
Gene: ENSMUSG00000023764

DomainStartEndE-ValueType
internal_repeat_1 67 288 6.06e-9 PROSPERO
internal_repeat_3 69 314 2.4e-5 PROSPERO
internal_repeat_2 93 340 2.83e-6 PROSPERO
low complexity region 342 358 N/A INTRINSIC
internal_repeat_1 397 620 6.06e-9 PROSPERO
internal_repeat_2 493 744 2.83e-6 PROSPERO
internal_repeat_3 531 799 2.4e-5 PROSPERO
low complexity region 810 822 N/A INTRINSIC
low complexity region 850 861 N/A INTRINSIC
coiled coil region 1076 1102 N/A INTRINSIC
coiled coil region 1128 1158 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156655
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,207,966 (GRCm39) I554T possibly damaging Het
Adamts7 C A 9: 90,077,258 (GRCm39) C1308* probably null Het
Ank2 A G 3: 126,753,366 (GRCm39) V305A probably benign Het
Apob A G 12: 8,056,399 (GRCm39) N1627S possibly damaging Het
Atp10a A T 7: 58,477,887 (GRCm39) Q1310L probably benign Het
Atp8b4 A T 2: 126,322,551 (GRCm39) Y29* probably null Het
Card11 C A 5: 140,871,276 (GRCm39) R742S probably benign Het
Ccdc88a A G 11: 29,405,422 (GRCm39) D365G probably benign Het
Ccdc88b G A 19: 6,833,533 (GRCm39) R211W probably benign Het
Cda T G 4: 138,078,598 (GRCm39) I55L probably benign Het
Cdkl3 A C 11: 51,926,779 (GRCm39) E577D probably benign Het
Cel T C 2: 28,450,587 (GRCm39) D146G probably damaging Het
Cfap251 T C 5: 123,426,878 (GRCm39) L919S probably damaging Het
Cmya5 A G 13: 93,230,880 (GRCm39) S1403P probably damaging Het
Cntn2 G A 1: 132,455,912 (GRCm39) S202L probably damaging Het
Col15a1 C T 4: 47,300,473 (GRCm39) Q1045* probably null Het
Csmd1 T C 8: 16,034,756 (GRCm39) T2472A probably benign Het
Ctbp2 G A 7: 132,601,069 (GRCm39) R22C probably benign Het
Ddit4 A G 10: 59,787,178 (GRCm39) S53P probably damaging Het
Ddx52 G T 11: 83,843,096 (GRCm39) C365F probably damaging Het
Dnhd1 C A 7: 105,361,972 (GRCm39) L3677I probably damaging Het
Dscam T C 16: 96,840,203 (GRCm39) T135A probably benign Het
Espl1 T A 15: 102,207,185 (GRCm39) D216E probably damaging Het
Fsip2 T A 2: 82,819,793 (GRCm39) D5175E possibly damaging Het
Fxr1 A G 3: 34,074,120 (GRCm39) probably benign Het
Fyb1 A G 15: 6,664,297 (GRCm39) D460G probably benign Het
Gm3264 T C 14: 16,058,217 (GRCm39) I8T possibly damaging Het
Gsdmc A T 15: 63,675,486 (GRCm39) Y110N possibly damaging Het
H13 A G 2: 152,537,413 (GRCm39) N286S probably benign Het
H2ac1 A T 13: 24,118,679 (GRCm39) I79F probably damaging Het
Heatr1 A G 13: 12,421,423 (GRCm39) D441G probably damaging Het
Hps6 A G 19: 45,994,349 (GRCm39) D762G probably damaging Het
Hyou1 C A 9: 44,292,812 (GRCm39) Q141K probably benign Het
Lpin3 T C 2: 160,738,993 (GRCm39) I267T probably benign Het
Mdc1 A G 17: 36,161,396 (GRCm39) K770E probably benign Het
Mlh3 C T 12: 85,316,144 (GRCm39) R14H probably damaging Het
Nfxl1 C A 5: 72,694,750 (GRCm39) V478F probably benign Het
Nhlrc3 A G 3: 53,361,015 (GRCm39) W247R probably damaging Het
Nlrc3 C T 16: 3,781,876 (GRCm39) G527D probably damaging Het
Nop9 A G 14: 55,988,584 (GRCm39) E342G probably benign Het
Ntn1 C A 11: 68,276,013 (GRCm39) G312C probably damaging Het
Opcml T C 9: 28,586,459 (GRCm39) V59A possibly damaging Het
Opn1sw T G 6: 29,379,425 (GRCm39) Y193S probably damaging Het
Or10ad1c C T 15: 98,085,486 (GRCm39) S64N probably damaging Het
Or5p54 T A 7: 107,554,780 (GRCm39) *311K probably null Het
Pabpc4l A T 3: 46,401,137 (GRCm39) V169E probably damaging Het
Pde3a A G 6: 141,437,982 (GRCm39) D1017G probably benign Het
Plagl2 C T 2: 153,074,238 (GRCm39) C221Y probably damaging Het
Plppr4 G T 3: 117,116,377 (GRCm39) N493K possibly damaging Het
Plxna2 T C 1: 194,431,724 (GRCm39) V571A possibly damaging Het
Pnma2 A G 14: 67,153,371 (GRCm39) probably benign Het
Rnf123 T A 9: 107,929,467 (GRCm39) E1234D probably benign Het
Slc22a23 T C 13: 34,528,561 (GRCm39) S74G probably benign Het
Slc36a4 T C 9: 15,645,563 (GRCm39) I330T probably damaging Het
Snrk A T 9: 121,995,463 (GRCm39) D414V probably benign Het
Snrnp200 G A 2: 127,079,978 (GRCm39) probably null Het
Spata31d1b T C 13: 59,863,403 (GRCm39) S184P probably damaging Het
Tas2r140 A T 6: 133,032,241 (GRCm39) N172K probably benign Het
Tbc1d4 G T 14: 101,700,356 (GRCm39) Q858K probably damaging Het
Tex55 T G 16: 38,648,407 (GRCm39) D234A probably benign Het
Tial1 A G 7: 128,044,209 (GRCm39) C102R unknown Het
Ugt8a A T 3: 125,665,263 (GRCm39) D411E probably benign Het
Usp34 A G 11: 23,399,223 (GRCm39) D2404G Het
Vmn1r10 A C 6: 57,090,833 (GRCm39) I142L probably benign Het
Wdr97 A G 15: 76,240,367 (GRCm39) T352A Het
Xpo7 A T 14: 70,925,733 (GRCm39) D435E probably damaging Het
Zmym1 A G 4: 126,952,683 (GRCm39) S33P probably damaging Het
Other mutations in Sfi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Sfi1 APN 11 3,093,689 (GRCm39) splice site probably benign
IGL00990:Sfi1 APN 11 3,084,337 (GRCm39) missense probably benign 0.05
IGL00990:Sfi1 APN 11 3,085,671 (GRCm39) missense probably damaging 0.99
IGL03147:Sfi1 UTSW 11 3,136,080 (GRCm39) missense possibly damaging 0.94
R0081:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R0082:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R0118:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R0197:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R0241:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R0241:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R0242:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R0816:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R1147:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R1148:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R1148:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R1185:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R1185:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R1207:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R1207:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R1207:Sfi1 UTSW 11 3,096,255 (GRCm39) frame shift probably null
R1403:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R1403:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R1404:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R1404:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R1405:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R1405:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R1465:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R1469:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R1470:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R1470:Sfi1 UTSW 11 3,096,255 (GRCm39) frame shift probably null
R1574:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R2871:Sfi1 UTSW 11 3,127,419 (GRCm39) critical splice donor site probably benign
R5228:Sfi1 UTSW 11 3,103,384 (GRCm39) intron probably benign
R5276:Sfi1 UTSW 11 3,103,384 (GRCm39) intron probably benign
R5298:Sfi1 UTSW 11 3,103,384 (GRCm39) intron probably benign
R5343:Sfi1 UTSW 11 3,103,384 (GRCm39) intron probably benign
R5376:Sfi1 UTSW 11 3,103,384 (GRCm39) intron probably benign
R5384:Sfi1 UTSW 11 3,103,382 (GRCm39) intron probably benign
R5385:Sfi1 UTSW 11 3,103,382 (GRCm39) intron probably benign
R5386:Sfi1 UTSW 11 3,103,384 (GRCm39) intron probably benign
R5411:Sfi1 UTSW 11 3,103,384 (GRCm39) intron probably benign
R5431:Sfi1 UTSW 11 3,103,384 (GRCm39) intron probably benign
R5795:Sfi1 UTSW 11 3,103,384 (GRCm39) intron probably benign
R5808:Sfi1 UTSW 11 3,103,384 (GRCm39) intron probably benign
R7536:Sfi1 UTSW 11 3,103,382 (GRCm39) intron probably benign
R7642:Sfi1 UTSW 11 3,103,382 (GRCm39) intron probably benign
R8111:Sfi1 UTSW 11 3,096,254 (GRCm39) frame shift probably null
R8891:Sfi1 UTSW 11 3,103,384 (GRCm39) intron probably benign
R8977:Sfi1 UTSW 11 3,103,382 (GRCm39) intron probably benign
R9118:Sfi1 UTSW 11 3,103,382 (GRCm39) intron probably benign
R9170:Sfi1 UTSW 11 3,103,384 (GRCm39) intron probably benign
R9559:Sfi1 UTSW 11 3,103,382 (GRCm39) intron probably benign
R9560:Sfi1 UTSW 11 3,103,382 (GRCm39) intron probably benign
R9715:Sfi1 UTSW 11 3,103,382 (GRCm39) intron probably benign
Z1186:Sfi1 UTSW 11 3,103,382 (GRCm39) intron probably benign
Predicted Primers
Posted On 2022-04-18