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)
|
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
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 |
probably benign
Transcript: ENSMUST00000155763
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141422
|
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: 99.4%
- 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |