Incidental Mutation 'R1185:Sfi1'
| ID |
102057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfi1
|
| Ensembl Gene |
ENSMUSG00000023764 |
| Gene Name |
Sfi1 homolog, spindle assembly associated (yeast) |
| Synonyms |
2310047I15Rik |
| MMRRC Submission |
039257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R1185 (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: 98.2%
- 3x: 96.3%
- 10x: 87.8%
- 20x: 68.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
| Cd69 |
C |
T |
6: 129,247,148 (GRCm39) |
G23D |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,735,166 (GRCm39) |
R24* |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
| Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
| Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
| Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
| Ift70a1 |
A |
T |
2: 75,810,696 (GRCm39) |
N462K |
probably damaging |
Het |
| Itgb2l |
A |
G |
16: 96,230,240 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,938 (GRCm39) |
D241G |
possibly damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,967 (GRCm39) |
D274G |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,866,959 (GRCm39) |
S675G |
probably benign |
Het |
| Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,683,624 (GRCm39) |
S1856T |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
| Proser3 |
G |
A |
7: 30,245,572 (GRCm39) |
A144V |
probably benign |
Het |
| Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
| Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,708,475 (GRCm39) |
T167K |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,108,527 (GRCm39) |
L195P |
possibly damaging |
Het |
| Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,492 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,595,254 (GRCm39) |
D237G |
possibly damaging |
Het |
| Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
| Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
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 |
3,096,254 (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 |
PCR Primer
(F):5'- TACAGTGGACATTCACAGCCGGAC -3'
(R):5'- ACTAAGTGTAGCCGTGACTGGGTAG -3'
Sequencing Primer
(F):5'- CTTTGCTGAGTTTAAGGCAAACC -3'
(R):5'- CGTGACTGGGTAGGAGTTACTTTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation