Incidental Mutation 'R1207:Sfi1'
ID 100483
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 # R1207 (G1)
Quality Score 114
Status Not validated
Chromosome 11
Chromosomal Location 3081850-3143463 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) C to CT at 3096255 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 null
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 null
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 null
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 null
Transcript: ENSMUST00000126746
SMART Domains Protein: ENSMUSP00000122002
Gene: ENSMUSG00000023764

DomainStartEndE-ValueType
low complexity region 73 89 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131021
Predicted Effect probably null
Transcript: ENSMUST00000132893
SMART Domains Protein: ENSMUSP00000118419
Gene: ENSMUSG00000023764

DomainStartEndE-ValueType
low complexity region 210 223 N/A INTRINSIC
Predicted Effect probably null
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 null
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: ENSMUST00000137633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144778
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 96.4%
  • 10x: 87.4%
  • 20x: 66.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 9 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Parp4 A C 14: 56,885,339 (GRCm39) I1473L unknown Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Spmip8 G T 8: 96,047,137 (GRCm39) R94L probably damaging Het
Ttn T A 2: 76,587,404 (GRCm39) K13236M probably damaging Het
Ugt1a10 G A 1: 88,143,976 (GRCm39) A199T probably damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign 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
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 PCR Primer
(F):5'- GTCCCAGGAGAAAGTACCGGCTAA -3'
(R):5'- ACCTAGCAAACTGGTGAAGATCAAACAT -3'

Sequencing Primer
(F):5'- TGAGATCAAAAGGCCCTCATTCTG -3'
(R):5'- CAAACATAACACTTCATTCTGTTCC -3'
Posted On 2014-01-15