Incidental Mutation 'R0241:Sfi1'
ID 501786
Institutional Source Beutler Lab
Gene Symbol Sfi1
Ensembl Gene ENSMUSG00000023764
Gene Name Sfi1 homolog, spindle assembly associated (yeast)
Synonyms 2310047I15Rik
MMRRC Submission 038479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R0241 (G1)
Quality Score 214
Status Not validated
Chromosome 11
Chromosomal Location 3081850-3143463 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) CCTCTC to CCTCTCTC at 3127419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066391] [ENSMUST00000081318] [ENSMUST00000101655] [ENSMUST00000132893] [ENSMUST00000140846] [ENSMUST00000155763] [ENSMUST00000142315] [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 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 probably benign
Transcript: ENSMUST00000155763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141422
Predicted Effect probably benign
Transcript: ENSMUST00000142315
SMART Domains Protein: ENSMUSP00000118364
Gene: ENSMUSG00000023764

DomainStartEndE-ValueType
low complexity region 64 77 N/A INTRINSIC
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: ENSMUST00000143442
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Anapc1 A T 2: 128,470,549 (GRCm39) M1527K possibly damaging Het
Arfgef3 T A 10: 18,474,962 (GRCm39) I1575F probably damaging Het
Atp4a G T 7: 30,416,560 (GRCm39) G446C probably benign Het
Bicra A T 7: 15,709,070 (GRCm39) M1188K probably damaging Het
Brd7 G A 8: 89,072,478 (GRCm39) R331W probably benign Het
Cactin A G 10: 81,158,486 (GRCm39) T151A probably benign Het
Cadps G A 14: 12,376,675 (GRCm38) T1274M probably damaging Het
Catsper3 T C 13: 55,952,667 (GRCm39) M175T probably damaging Het
Chd5 A G 4: 152,450,589 (GRCm39) D605G probably damaging Het
Chst12 G A 5: 140,510,054 (GRCm39) R227H possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cimap1d C T 10: 79,480,564 (GRCm39) probably null Het
Cobl A T 11: 12,204,524 (GRCm39) V644E probably benign Het
Ddx31 A G 2: 28,738,303 (GRCm39) T155A probably damaging Het
Dnah3 T C 7: 119,521,953 (GRCm39) Q4069R probably damaging Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Doc2b A G 11: 75,663,387 (GRCm39) V355A probably damaging Het
Dock10 A T 1: 80,556,340 (GRCm39) S578T probably benign Het
Duox1 T C 2: 122,163,878 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,495,509 (GRCm39) probably null Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcer2a A G 8: 3,738,796 (GRCm39) probably null Het
Fmnl1 G A 11: 103,072,996 (GRCm39) probably null Het
Fry A T 5: 150,183,811 (GRCm39) probably benign Het
Git2 T C 5: 114,871,290 (GRCm39) E208G probably damaging Het
Hs6st3 T C 14: 119,376,232 (GRCm39) F136L probably benign Het
Hydin G A 8: 111,124,655 (GRCm39) V555I probably benign Het
Kcns1 A T 2: 164,010,300 (GRCm39) I153N probably damaging Het
Kmt2b A G 7: 30,276,494 (GRCm39) L1726S probably damaging Het
Loxl3 A G 6: 83,027,114 (GRCm39) D615G probably damaging Het
Negr1 T A 3: 156,914,036 (GRCm39) probably benign Het
Nfasc C A 1: 132,564,731 (GRCm39) A70S probably benign Het
Or4d1 T A 11: 87,804,860 (GRCm39) N291Y probably damaging Het
Or4p21 A T 2: 88,276,889 (GRCm39) M131K possibly damaging Het
Or52n4 A G 7: 104,294,450 (GRCm39) M41T probably benign Het
Or5g29 A G 2: 85,421,154 (GRCm39) K90R probably benign Het
Otud7a T C 7: 63,346,992 (GRCm39) probably benign Het
Pacs2 T C 12: 113,032,890 (GRCm39) probably benign Het
Pde7b A G 10: 20,311,962 (GRCm39) C239R probably damaging Het
Pdzd2 A T 15: 12,368,027 (GRCm39) L2654Q probably damaging Het
Pgap1 T C 1: 54,575,110 (GRCm39) probably null Het
Proz T A 8: 13,115,356 (GRCm39) M124K probably benign Het
Raet1d A G 10: 22,247,328 (GRCm39) T135A probably benign Het
Rapgef1 A G 2: 29,592,682 (GRCm39) N558S possibly damaging Het
Rpl7 C G 1: 16,173,446 (GRCm39) G101A possibly damaging Het
Sec14l1 G A 11: 117,037,924 (GRCm39) probably benign Het
Simc1 G T 13: 54,698,338 (GRCm39) L1319F probably damaging Het
Sspo A G 6: 48,438,429 (GRCm39) E1499G possibly damaging Het
Tango6 C T 8: 107,473,993 (GRCm39) probably benign Het
Tas2r118 T C 6: 23,969,338 (GRCm39) Y241C probably damaging Het
Tbck A G 3: 132,430,636 (GRCm39) E344G probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thop1 T A 10: 80,916,079 (GRCm39) probably benign Het
Tmbim7 A T 5: 3,716,866 (GRCm39) Y66F probably benign Het
Tmc8 C T 11: 117,677,207 (GRCm39) probably benign Het
Tnfrsf19 A G 14: 61,211,041 (GRCm39) S216P possibly damaging Het
Trappc2l A G 8: 123,341,132 (GRCm39) probably benign Het
Trim67 A G 8: 125,549,929 (GRCm39) R520G probably damaging Het
Ubp1 T A 9: 113,795,655 (GRCm39) probably null Het
Vil1 T C 1: 74,465,853 (GRCm39) L548P probably damaging Het
Wdr3 A G 3: 100,052,973 (GRCm39) V593A probably damaging Het
Wdr5 A G 2: 27,423,025 (GRCm39) Y243C probably damaging Het
Zan T C 5: 137,420,084 (GRCm39) T2858A unknown Het
Zbtb37 A T 1: 160,847,939 (GRCm39) V356E probably benign Het
Zfp36 C T 7: 28,077,759 (GRCm39) V50I probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly 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
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
R9385:Sfi1 UTSW 11 3,103,382 (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 2017-12-01