Incidental Mutation 'IGL00990:Sfi1'
ID 306774
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00990
Quality Score
Status
Chromosome 11
Chromosomal Location 3081850-3143463 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 3093689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066391] [ENSMUST00000081318] [ENSMUST00000101655] [ENSMUST00000132893] [ENSMUST00000153425] [ENSMUST00000140846]
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: 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 benign
Transcript: ENSMUST00000132893
SMART Domains Protein: ENSMUSP00000118419
Gene: ENSMUSG00000023764

DomainStartEndE-ValueType
low complexity region 210 223 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133882
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 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: ENSMUST00000137633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144359
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 148 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 C A 15: 64,694,162 (GRCm39) V372L probably benign Het
Bod1l T C 5: 41,986,208 (GRCm39) D458G probably benign Het
Cacna1c G T 6: 118,590,256 (GRCm39) H1416N probably damaging Het
Cacna2d1 T C 5: 16,140,067 (GRCm39) I19T probably benign Het
Cadps T A 14: 12,715,374 (GRCm38) T153S possibly damaging Het
Cd200r1 A T 16: 44,614,672 (GRCm39) D317V possibly damaging Het
Cimap1c T C 9: 56,756,341 (GRCm39) E225G probably benign Het
Dcaf5 C T 12: 80,385,606 (GRCm39) R840H probably benign Het
Dnhd1 A C 7: 105,370,895 (GRCm39) H4725P possibly damaging Het
Echdc3 C A 2: 6,200,538 (GRCm39) L149F probably benign Het
Efhb T G 17: 53,769,649 (GRCm39) Q220P possibly damaging Het
Efr3b A T 12: 4,025,411 (GRCm39) Y18* probably null Het
Eri1 T C 8: 35,949,836 (GRCm39) K41R possibly damaging Het
Eri1 C A 8: 35,949,800 (GRCm39) G53V probably benign Het
Gm10212 A G 19: 11,546,924 (GRCm39) noncoding transcript Het
Gm11168 T G 9: 3,005,124 (GRCm39) F201C probably damaging Het
Gm14412 A C 2: 177,007,479 (GRCm39) S139A probably benign Het
Gm21411 C T 4: 146,977,067 (GRCm39) S69N possibly damaging Het
Gm21738 A G 14: 19,418,885 (GRCm38) C16R probably benign Het
Gm21967 T A 13: 120,071,071 (GRCm39) probably benign Het
Gm4952 A T 19: 12,600,987 (GRCm39) D69V probably damaging Het
Gm5591 T G 7: 38,219,838 (GRCm39) K345T probably benign Het
Gm7647 T C 5: 95,110,839 (GRCm39) S7P probably benign Het
Gm9758 G A 5: 14,963,522 (GRCm39) probably benign Het
Gtse1 C A 15: 85,753,018 (GRCm39) Q378K possibly damaging Het
Haus3 T C 5: 34,323,690 (GRCm39) K307E probably benign Het
Hjurp A G 1: 88,197,991 (GRCm39) L96S probably benign Het
Ifi205 T A 1: 173,854,899 (GRCm39) probably benign Het
Ighg1 A G 12: 113,292,804 (GRCm39) V255A unknown Het
Ighv14-4 T A 12: 114,140,252 (GRCm39) M49L probably benign Het
Jak1 A C 4: 101,028,554 (GRCm39) L508R probably damaging Het
Kif18a A G 2: 109,164,767 (GRCm39) Q821R probably benign Het
Kif21b T C 1: 136,080,080 (GRCm39) S539P possibly damaging Het
Klhdc2 T C 12: 69,353,987 (GRCm39) V266A probably benign Het
Lonp2 G T 8: 87,368,161 (GRCm39) probably benign Het
Mpdz C T 4: 81,221,821 (GRCm39) probably benign Het
Mroh2a G T 1: 88,172,692 (GRCm39) M823I probably benign Het
Mroh2a G A 1: 88,161,842 (GRCm39) G309D possibly damaging Het
Mroh2a G A 1: 88,158,468 (GRCm39) E172K probably damaging Het
Mtif3 C A 5: 146,895,914 (GRCm39) G58* probably null Het
Muc4 C T 16: 32,576,179 (GRCm39) probably benign Het
Muc4 C T 16: 32,575,114 (GRCm39) P1233L probably benign Het
Muc4 G T 16: 32,575,139 (GRCm39) K1241N probably benign Het
Muc4 G A 16: 32,575,140 (GRCm39) G1242R probably benign Het
Muc4 T G 16: 32,753,863 (GRCm38) N1246K probably benign Het
Muc4 A T 16: 32,753,886 (GRCm38) E1254V probably benign Het
Muc4 C T 16: 32,752,569 (GRCm38) P816S probably benign Het
Muc4 A G 16: 32,575,362 (GRCm39) R1316G probably benign Het
Muc4 C A 16: 32,575,246 (GRCm39) T1277K possibly damaging Het
Muc6 C T 7: 141,638,890 (GRCm38) A1957T possibly damaging Het
Naca T A 10: 127,879,669 (GRCm39) probably benign Het
Nars2 A T 7: 96,651,997 (GRCm39) probably benign Het
Or1j14 A C 2: 36,418,005 (GRCm39) I194L probably benign Het
Or52b3 G T 7: 102,204,098 (GRCm39) L202F probably damaging Het
Or5b12b G T 19: 12,861,265 (GRCm39) V7L probably benign Het
Or6c216 T C 10: 129,678,342 (GRCm39) T190A probably damaging Het
Pcdh7 G A 5: 57,877,806 (GRCm39) E454K possibly damaging Het
Pip5kl1 C A 2: 32,473,359 (GRCm39) A332D probably benign Het
Pisd A T 5: 32,896,702 (GRCm39) S280T probably benign Het
Pramel34 T A 5: 93,784,336 (GRCm39) Q376L probably damaging Het
Pramel5 A G 4: 144,000,549 (GRCm39) L9P probably damaging Het
Prkd3 G T 17: 79,261,952 (GRCm39) N787K probably benign Het
Prkdc A T 16: 15,519,979 (GRCm39) H1139L probably benign Het
R3hdm1 A G 1: 128,089,933 (GRCm39) probably benign Het
Rbfox2 T C 15: 76,987,136 (GRCm39) N206D probably damaging Het
Rlf T C 4: 121,005,536 (GRCm39) E1258G possibly damaging Het
Rpl8 T C 15: 76,789,242 (GRCm39) probably benign Het
Senp5 A C 16: 31,809,092 (GRCm39) V27G probably benign Het
Serpina1b T A 12: 103,694,525 (GRCm39) K406N probably damaging Het
Shc1 T C 3: 89,331,536 (GRCm39) S154P probably damaging Het
Sirpd C T 3: 15,397,205 (GRCm39) probably null Het
Skint5 A G 4: 113,400,070 (GRCm39) probably null Het
Slc17a8 T C 10: 89,412,392 (GRCm39) D531G probably benign Het
Slc4a10 A C 2: 62,117,284 (GRCm39) T718P probably damaging Het
Slc7a11 C T 3: 50,333,518 (GRCm39) R411Q probably damaging Het
Slitrk3 A G 3: 72,957,414 (GRCm39) F453L probably damaging Het
Slk A C 19: 47,568,691 (GRCm39) Q20P probably damaging Het
Smg5 T C 3: 88,250,345 (GRCm39) probably null Het
Sp110 G A 1: 85,514,002 (GRCm39) R252C possibly damaging Het
Sp140 G A 1: 85,553,854 (GRCm39) R231K probably benign Het
Sp140 C T 1: 85,553,886 (GRCm39) R242C possibly damaging Het
Speer4a3 A C 5: 26,159,222 (GRCm39) W41G probably benign Het
Speer4b G A 5: 27,706,272 (GRCm39) P30S probably damaging Het
Spef1l A C 7: 139,558,016 (GRCm39) V60G probably damaging Het
Stim1 T A 7: 102,075,954 (GRCm39) H395Q probably damaging Het
Sult2a1 T C 7: 13,537,961 (GRCm39) I187M probably benign Het
Thap1 G A 8: 26,652,759 (GRCm39) D189N probably benign Het
Thap1 C T 8: 26,650,910 (GRCm39) P37L possibly damaging Het
Thrap3 C T 4: 126,059,188 (GRCm39) probably benign Het
Tmem132d C T 5: 127,861,896 (GRCm39) V742I possibly damaging Het
Tmprss9 A G 10: 80,728,126 (GRCm39) D572G possibly damaging Het
Tmtc1 T G 6: 148,345,442 (GRCm39) T86P probably benign Het
Trip12 A T 1: 84,729,605 (GRCm39) N1026K probably damaging Het
Ttll5 T A 12: 85,923,363 (GRCm39) V280E probably damaging Het
Ubn2 T A 6: 38,459,540 (GRCm39) D592E possibly damaging Het
Ubr1 T G 2: 120,761,353 (GRCm39) H608P probably damaging Het
Ugt1a6b A T 1: 88,142,900 (GRCm39) probably null Het
Vmn1r77 C A 7: 11,775,695 (GRCm39) S89Y probably benign Het
Vmn1r77 A C 7: 11,775,403 (GRCm39) I60L probably benign Het
Vmn2r114 G A 17: 23,509,939 (GRCm39) A847V probably benign Het
Vmn2r114 A T 17: 23,510,212 (GRCm39) L756Q probably damaging Het
Vmn2r114 G T 17: 23,509,957 (GRCm39) S841Y probably benign Het
Vmn2r115 G A 17: 23,578,753 (GRCm39) G742D probably damaging Het
Vmn2r115 C T 17: 23,565,238 (GRCm39) S375F probably benign Het
Vmn2r115 A G 17: 23,575,934 (GRCm39) M511V probably benign Het
Vmn2r115 A G 17: 23,565,346 (GRCm39) Q411R probably benign Het
Vmn2r115 C T 17: 23,565,345 (GRCm39) Q411* probably null Het
Vmn2r115 C T 17: 23,578,371 (GRCm39) P615S probably damaging Het
Vmn2r115 A G 17: 23,565,135 (GRCm39) N341D probably benign Het
Vmn2r115 G A 17: 23,565,252 (GRCm39) E380K probably benign Het
Vmn2r115 A C 17: 23,565,313 (GRCm39) N400T probably damaging Het
Vmn2r115 T A 17: 23,578,798 (GRCm39) L757Q probably damaging Het
Vmn2r115 G T 17: 23,567,008 (GRCm39) G507* probably null Het
Vmn2r115 A T 17: 23,565,180 (GRCm39) M356L possibly damaging Het
Vmn2r115 C T 17: 23,565,150 (GRCm39) P346S probably benign Het
Vmn2r115 G T 17: 23,578,323 (GRCm39) A599S probably benign Het
Vmn2r116 C T 17: 23,606,210 (GRCm39) S374F probably benign Het
Vmn2r116 C T 17: 23,616,701 (GRCm39) P540S probably damaging Het
Vmn2r117 T G 17: 23,694,403 (GRCm39) K481N probably damaging Het
Vmn2r117 C T 17: 23,696,814 (GRCm39) A198T probably damaging Het
Vmn2r117 A C 17: 23,698,520 (GRCm39) S18A probably benign Het
Vmn2r121 T G X: 123,037,499 (GRCm39) K840N probably benign Het
Vmn2r121 C T X: 123,043,413 (GRCm39) E73K probably benign Het
Vmn2r121 T A X: 123,037,480 (GRCm39) N847Y possibly damaging Het
Vmn2r125 T A 4: 156,703,521 (GRCm39) L300M probably benign Het
Vmn2r125 A T 4: 156,703,332 (GRCm39) T237S probably benign Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Vmn2r125 C A 4: 156,703,194 (GRCm39) Q191K probably benign Het
Vmn2r125 A C 4: 156,703,195 (GRCm39) Q191P probably benign Het
Vmn2r125 T C 4: 156,703,261 (GRCm39) V213A probably benign Het
Vmn2r125 T C 4: 156,703,678 (GRCm39) M352T probably benign Het
Vmn2r129 C A 4: 156,690,730 (GRCm39) noncoding transcript Het
Vmn2r129 A T 4: 156,690,441 (GRCm39) noncoding transcript Het
Vmn2r129 T G 4: 156,690,779 (GRCm39) noncoding transcript Het
Vmn2r129 T G 4: 156,686,857 (GRCm39) noncoding transcript Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r129 T C 4: 156,686,558 (GRCm39) noncoding transcript Het
Vmn2r129 G T 4: 156,690,755 (GRCm39) noncoding transcript Het
Vmn2r88 A G 14: 51,650,582 (GRCm39) I98M probably benign Het
Vmn2r88 C T 14: 51,654,259 (GRCm39) P539L possibly damaging Het
Vmn2r88 T C 14: 51,650,713 (GRCm39) I142T probably benign Het
Vmn2r88 T C 14: 51,650,517 (GRCm39) F77L probably benign Het
Vmn2r89 A C 14: 51,693,428 (GRCm39) Q259H probably benign Het
Vmn2r89 T G 14: 51,694,950 (GRCm39) L477V probably benign Het
Zfp180 C T 7: 23,804,255 (GRCm39) R225C probably benign Het
Zfp180 G A 7: 23,803,841 (GRCm39) C85Y possibly damaging Het
Zfp180 G A 7: 23,804,420 (GRCm39) V280M possibly damaging Het
Zfp982 G A 4: 147,596,826 (GRCm39) C61Y probably benign Het
Other mutations in Sfi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Sfi1 APN 11 3,085,671 (GRCm39) missense probably damaging 0.99
IGL00990:Sfi1 APN 11 3,084,337 (GRCm39) missense probably benign 0.05
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
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
Posted On 2015-04-16