Incidental Mutation 'R9385:Sfi1'
ID |
710272 |
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)
|
Stock # |
R9385 (G1)
|
Quality Score |
207.468 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
3081850-3143463 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
ACA to ACATCTTCCCAAAGCCAGTCA
at 3103382 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 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 |
noncoding transcript
Transcript: ENSMUST00000120853
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126746
|
SMART Domains |
Protein: ENSMUSP00000122002 Gene: ENSMUSG00000023764
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
89 |
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 |
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: ENSMUST00000156655
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,207,966 (GRCm39) |
I554T |
possibly damaging |
Het |
Adamts7 |
C |
A |
9: 90,077,258 (GRCm39) |
C1308* |
probably null |
Het |
Ank2 |
A |
G |
3: 126,753,366 (GRCm39) |
V305A |
probably benign |
Het |
Apob |
A |
G |
12: 8,056,399 (GRCm39) |
N1627S |
possibly damaging |
Het |
Atp10a |
A |
T |
7: 58,477,887 (GRCm39) |
Q1310L |
probably benign |
Het |
Atp8b4 |
A |
T |
2: 126,322,551 (GRCm39) |
Y29* |
probably null |
Het |
Card11 |
C |
A |
5: 140,871,276 (GRCm39) |
R742S |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,405,422 (GRCm39) |
D365G |
probably benign |
Het |
Ccdc88b |
G |
A |
19: 6,833,533 (GRCm39) |
R211W |
probably benign |
Het |
Cda |
T |
G |
4: 138,078,598 (GRCm39) |
I55L |
probably benign |
Het |
Cdkl3 |
A |
C |
11: 51,926,779 (GRCm39) |
E577D |
probably benign |
Het |
Cel |
T |
C |
2: 28,450,587 (GRCm39) |
D146G |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,426,878 (GRCm39) |
L919S |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,230,880 (GRCm39) |
S1403P |
probably damaging |
Het |
Cntn2 |
G |
A |
1: 132,455,912 (GRCm39) |
S202L |
probably damaging |
Het |
Col15a1 |
C |
T |
4: 47,300,473 (GRCm39) |
Q1045* |
probably null |
Het |
Csmd1 |
T |
C |
8: 16,034,756 (GRCm39) |
T2472A |
probably benign |
Het |
Ctbp2 |
G |
A |
7: 132,601,069 (GRCm39) |
R22C |
probably benign |
Het |
Ddit4 |
A |
G |
10: 59,787,178 (GRCm39) |
S53P |
probably damaging |
Het |
Ddx52 |
G |
T |
11: 83,843,096 (GRCm39) |
C365F |
probably damaging |
Het |
Dnhd1 |
C |
A |
7: 105,361,972 (GRCm39) |
L3677I |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,840,203 (GRCm39) |
T135A |
probably benign |
Het |
Espl1 |
T |
A |
15: 102,207,185 (GRCm39) |
D216E |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,819,793 (GRCm39) |
D5175E |
possibly damaging |
Het |
Fxr1 |
A |
G |
3: 34,074,120 (GRCm39) |
|
probably benign |
Het |
Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
Gm3264 |
T |
C |
14: 16,058,217 (GRCm39) |
I8T |
possibly damaging |
Het |
Gsdmc |
A |
T |
15: 63,675,486 (GRCm39) |
Y110N |
possibly damaging |
Het |
H13 |
A |
G |
2: 152,537,413 (GRCm39) |
N286S |
probably benign |
Het |
H2ac1 |
A |
T |
13: 24,118,679 (GRCm39) |
I79F |
probably damaging |
Het |
Heatr1 |
A |
G |
13: 12,421,423 (GRCm39) |
D441G |
probably damaging |
Het |
Hps6 |
A |
G |
19: 45,994,349 (GRCm39) |
D762G |
probably damaging |
Het |
Hyou1 |
C |
A |
9: 44,292,812 (GRCm39) |
Q141K |
probably benign |
Het |
Lpin3 |
T |
C |
2: 160,738,993 (GRCm39) |
I267T |
probably benign |
Het |
Mdc1 |
A |
G |
17: 36,161,396 (GRCm39) |
K770E |
probably benign |
Het |
Mlh3 |
C |
T |
12: 85,316,144 (GRCm39) |
R14H |
probably damaging |
Het |
Nfxl1 |
C |
A |
5: 72,694,750 (GRCm39) |
V478F |
probably benign |
Het |
Nhlrc3 |
A |
G |
3: 53,361,015 (GRCm39) |
W247R |
probably damaging |
Het |
Nlrc3 |
C |
T |
16: 3,781,876 (GRCm39) |
G527D |
probably damaging |
Het |
Nop9 |
A |
G |
14: 55,988,584 (GRCm39) |
E342G |
probably benign |
Het |
Ntn1 |
C |
A |
11: 68,276,013 (GRCm39) |
G312C |
probably damaging |
Het |
Opcml |
T |
C |
9: 28,586,459 (GRCm39) |
V59A |
possibly damaging |
Het |
Opn1sw |
T |
G |
6: 29,379,425 (GRCm39) |
Y193S |
probably damaging |
Het |
Or10ad1c |
C |
T |
15: 98,085,486 (GRCm39) |
S64N |
probably damaging |
Het |
Or5p54 |
T |
A |
7: 107,554,780 (GRCm39) |
*311K |
probably null |
Het |
Pabpc4l |
A |
T |
3: 46,401,137 (GRCm39) |
V169E |
probably damaging |
Het |
Pde3a |
A |
G |
6: 141,437,982 (GRCm39) |
D1017G |
probably benign |
Het |
Plagl2 |
C |
T |
2: 153,074,238 (GRCm39) |
C221Y |
probably damaging |
Het |
Plppr4 |
G |
T |
3: 117,116,377 (GRCm39) |
N493K |
possibly damaging |
Het |
Plxna2 |
T |
C |
1: 194,431,724 (GRCm39) |
V571A |
possibly damaging |
Het |
Pnma2 |
A |
G |
14: 67,153,371 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
T |
A |
9: 107,929,467 (GRCm39) |
E1234D |
probably benign |
Het |
Slc22a23 |
T |
C |
13: 34,528,561 (GRCm39) |
S74G |
probably benign |
Het |
Slc36a4 |
T |
C |
9: 15,645,563 (GRCm39) |
I330T |
probably damaging |
Het |
Snrk |
A |
T |
9: 121,995,463 (GRCm39) |
D414V |
probably benign |
Het |
Snrnp200 |
G |
A |
2: 127,079,978 (GRCm39) |
|
probably null |
Het |
Spata31d1b |
T |
C |
13: 59,863,403 (GRCm39) |
S184P |
probably damaging |
Het |
Tas2r140 |
A |
T |
6: 133,032,241 (GRCm39) |
N172K |
probably benign |
Het |
Tbc1d4 |
G |
T |
14: 101,700,356 (GRCm39) |
Q858K |
probably damaging |
Het |
Tex55 |
T |
G |
16: 38,648,407 (GRCm39) |
D234A |
probably benign |
Het |
Tial1 |
A |
G |
7: 128,044,209 (GRCm39) |
C102R |
unknown |
Het |
Ugt8a |
A |
T |
3: 125,665,263 (GRCm39) |
D411E |
probably benign |
Het |
Usp34 |
A |
G |
11: 23,399,223 (GRCm39) |
D2404G |
|
Het |
Vmn1r10 |
A |
C |
6: 57,090,833 (GRCm39) |
I142L |
probably benign |
Het |
Wdr97 |
A |
G |
15: 76,240,367 (GRCm39) |
T352A |
|
Het |
Xpo7 |
A |
T |
14: 70,925,733 (GRCm39) |
D435E |
probably damaging |
Het |
Zmym1 |
A |
G |
4: 126,952,683 (GRCm39) |
S33P |
probably 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 |
|
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 |
|
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 |
2022-04-18 |