Incidental Mutation 'R2871:Sfi1'
ID |
253748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sfi1
|
Ensembl Gene |
ENSMUSG00000023764 |
Gene Name |
Sfi1 homolog, spindle assembly associated (yeast) |
Synonyms |
2310047I15Rik |
MMRRC Submission |
040459-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.243)
|
Stock # |
R2871 (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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
probably benign
Transcript: ENSMUST00000155763
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142315
|
SMART Domains |
Protein: ENSMUSP00000118364 Gene: ENSMUSG00000023764
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: 99.5%
- 3x: 98.2%
- 10x: 92.4%
- 20x: 72.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,846,002 (GRCm39) |
C811R |
possibly damaging |
Het |
Akap8l |
G |
A |
17: 32,557,416 (GRCm39) |
T65I |
possibly damaging |
Het |
Arid4a |
T |
A |
12: 71,069,034 (GRCm39) |
|
probably null |
Het |
Armc2 |
C |
T |
10: 41,842,696 (GRCm39) |
|
probably null |
Het |
Atp6v1g1 |
A |
G |
4: 63,468,258 (GRCm39) |
Y87C |
probably benign |
Het |
Cfap54 |
A |
T |
10: 92,757,281 (GRCm39) |
F273I |
possibly damaging |
Het |
Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,451,511 (GRCm39) |
F113S |
unknown |
Het |
Cyp4a14 |
C |
A |
4: 115,344,498 (GRCm39) |
G456W |
probably damaging |
Het |
Cyp4a30b |
A |
G |
4: 115,315,559 (GRCm39) |
H260R |
possibly damaging |
Het |
Ddrgk1 |
T |
A |
2: 130,506,564 (GRCm39) |
|
probably benign |
Het |
Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
Eif4enif1 |
C |
T |
11: 3,192,586 (GRCm39) |
P805S |
probably damaging |
Het |
Eml5 |
C |
T |
12: 98,831,660 (GRCm39) |
D433N |
probably damaging |
Het |
Fan1 |
A |
G |
7: 64,012,938 (GRCm39) |
I668T |
probably benign |
Het |
Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Het |
Ftdc1 |
A |
T |
16: 58,434,342 (GRCm39) |
I125K |
probably benign |
Het |
Gria2 |
G |
A |
3: 80,609,799 (GRCm39) |
T670I |
probably damaging |
Het |
Grid2ip |
C |
A |
5: 143,343,684 (GRCm39) |
Q127K |
probably benign |
Het |
Hdhd2 |
T |
C |
18: 77,042,702 (GRCm39) |
F44L |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,614,467 (GRCm39) |
V1313D |
possibly damaging |
Het |
Ift172 |
C |
T |
5: 31,415,205 (GRCm39) |
V1335I |
probably benign |
Het |
Ighv2-2 |
G |
A |
12: 113,552,118 (GRCm39) |
T40I |
possibly damaging |
Het |
Kcnk10 |
T |
A |
12: 98,401,072 (GRCm39) |
R520S |
probably benign |
Het |
Kif1c |
A |
G |
11: 70,614,907 (GRCm39) |
E567G |
probably damaging |
Het |
Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Het |
Kpna7 |
T |
C |
5: 144,930,745 (GRCm39) |
T367A |
probably benign |
Het |
Lpo |
A |
G |
11: 87,707,350 (GRCm39) |
I221T |
possibly damaging |
Het |
Lrrn3 |
T |
C |
12: 41,502,722 (GRCm39) |
I532V |
probably benign |
Het |
Matr3 |
T |
A |
18: 35,705,349 (GRCm39) |
S91R |
probably benign |
Het |
Mki67 |
G |
A |
7: 135,309,878 (GRCm39) |
P191L |
probably benign |
Het |
Mlxip |
A |
G |
5: 123,590,730 (GRCm39) |
M878V |
probably benign |
Het |
Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
Mroh2a |
C |
A |
1: 88,183,287 (GRCm39) |
L1292I |
probably damaging |
Het |
Msh2 |
C |
A |
17: 87,993,012 (GRCm39) |
Q314K |
possibly damaging |
Het |
Mtor |
T |
A |
4: 148,624,487 (GRCm39) |
M2089K |
probably benign |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nlrp4b |
C |
T |
7: 10,444,170 (GRCm39) |
Q40* |
probably null |
Het |
Nomo1 |
C |
A |
7: 45,696,361 (GRCm39) |
T293N |
probably damaging |
Het |
Notum |
A |
G |
11: 120,551,022 (GRCm39) |
V48A |
probably benign |
Het |
Npas3 |
C |
T |
12: 54,114,796 (GRCm39) |
R542* |
probably null |
Het |
Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
Or13a17 |
A |
G |
7: 140,271,198 (GRCm39) |
I127V |
possibly damaging |
Het |
Or13j1 |
C |
A |
4: 43,706,458 (GRCm39) |
V37L |
probably benign |
Het |
Or5t16 |
A |
T |
2: 86,819,192 (GRCm39) |
C109* |
probably null |
Het |
Ostc |
T |
C |
3: 130,497,157 (GRCm39) |
N80S |
probably damaging |
Het |
Palmd |
T |
C |
3: 116,717,400 (GRCm39) |
R366G |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
Pcdhga9 |
T |
A |
18: 37,870,524 (GRCm39) |
Y118N |
possibly damaging |
Het |
Pes1 |
C |
A |
11: 3,926,834 (GRCm39) |
T372K |
probably benign |
Het |
Pkp4 |
C |
A |
2: 59,138,500 (GRCm39) |
T250K |
probably benign |
Het |
Plekhg5 |
T |
A |
4: 152,191,960 (GRCm39) |
C433S |
probably benign |
Het |
Plin2 |
A |
G |
4: 86,586,915 (GRCm39) |
M1T |
probably null |
Het |
Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Het |
Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
Psmd13 |
A |
T |
7: 140,466,968 (GRCm39) |
T116S |
probably damaging |
Het |
Rel |
T |
C |
11: 23,711,129 (GRCm39) |
I13V |
probably benign |
Het |
Reln |
C |
T |
5: 22,254,789 (GRCm39) |
V527I |
possibly damaging |
Het |
Rnf6 |
T |
C |
5: 146,147,215 (GRCm39) |
Y601C |
probably benign |
Het |
Rps6kc1 |
T |
C |
1: 190,631,766 (GRCm39) |
I48M |
probably damaging |
Het |
Shoc1 |
A |
C |
4: 59,093,850 (GRCm39) |
L226R |
probably damaging |
Het |
Slc39a8 |
T |
A |
3: 135,592,554 (GRCm39) |
|
probably null |
Het |
Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
Tnni3k |
C |
T |
3: 154,644,387 (GRCm39) |
|
probably null |
Het |
Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
Vmn2r70 |
T |
A |
7: 85,208,227 (GRCm39) |
Y750F |
probably damaging |
Het |
Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
probably benign |
Het |
|
Other mutations in Sfi1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GCTACACTATGGGAGAACAATTGTG -3'
(R):5'- ACTAAGTGTAGCCGTGACTGG -3'
Sequencing Primer
(F):5'- GCTTTGCTGAGTTTAAGGCAAACC -3'
(R):5'- CCGTGACTGGGTAGGAGTTAC -3'
|
Posted On |
2014-12-04 |