Incidental Mutation 'R0081:Sfi1'
| ID |
65759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfi1
|
| Ensembl Gene |
ENSMUSG00000023764 |
| Gene Name |
Sfi1 homolog, spindle assembly associated (yeast) |
| Synonyms |
2310047I15Rik |
| MMRRC Submission |
038368-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R0081 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
3081850-3143463 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TCGC to TC
at 3096254 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 null
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 null
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 null
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 null
Transcript: ENSMUST00000126746
|
| SMART Domains |
Protein: ENSMUSP00000122002
Gene: ENSMUSG00000023764
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
89 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131021
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132893
|
| SMART Domains |
Protein: ENSMUSP00000118419
Gene: ENSMUSG00000023764
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
210 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
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 null
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: ENSMUST00000146888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144359
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.2%
- 10x: 88.5%
- 20x: 63.6%
|
| Validation Efficiency |
94% (159/169) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
C |
8: 25,271,703 (GRCm39) |
D485G |
probably damaging |
Het |
| Adamts19 |
T |
C |
18: 59,036,137 (GRCm39) |
|
probably null |
Het |
| Adgrd1 |
A |
T |
5: 129,255,146 (GRCm39) |
I598F |
probably damaging |
Het |
| Adh5 |
A |
G |
3: 138,157,174 (GRCm39) |
D245G |
probably benign |
Het |
| Adra2b |
T |
C |
2: 127,206,212 (GRCm39) |
V238A |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,606,258 (GRCm39) |
V1188I |
possibly damaging |
Het |
| Asap1 |
C |
T |
15: 63,971,413 (GRCm39) |
G905D |
probably damaging |
Het |
| AW554918 |
T |
C |
18: 25,477,959 (GRCm39) |
V428A |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,950,436 (GRCm39) |
S3226T |
probably benign |
Het |
| Cdh17 |
A |
T |
4: 11,785,280 (GRCm39) |
|
probably benign |
Het |
| Cyfip2 |
A |
T |
11: 46,144,825 (GRCm39) |
Y676* |
probably null |
Het |
| Dcaf17 |
T |
A |
2: 70,908,812 (GRCm39) |
|
probably benign |
Het |
| Dclre1a |
A |
G |
19: 56,531,139 (GRCm39) |
F736L |
probably damaging |
Het |
| Ddx41 |
A |
T |
13: 55,683,193 (GRCm39) |
H171Q |
possibly damaging |
Het |
| Dennd5b |
G |
T |
6: 148,895,257 (GRCm39) |
Q1258K |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,584,295 (GRCm39) |
D137G |
probably damaging |
Het |
| Dpyd |
G |
A |
3: 118,737,904 (GRCm39) |
V482I |
probably benign |
Het |
| Erich6 |
A |
T |
3: 58,543,547 (GRCm39) |
|
probably benign |
Het |
| Fam193b |
A |
G |
13: 55,702,024 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
T |
C |
6: 15,405,643 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,577,252 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
A |
G |
11: 83,313,693 (GRCm39) |
S540P |
possibly damaging |
Het |
| Glis2 |
T |
C |
16: 4,431,517 (GRCm39) |
V348A |
probably benign |
Het |
| Gm14443 |
C |
A |
2: 175,011,729 (GRCm39) |
G239V |
probably damaging |
Het |
| Gpr158 |
T |
C |
2: 21,831,528 (GRCm39) |
V876A |
probably damaging |
Het |
| H1f8 |
A |
G |
6: 115,926,942 (GRCm39) |
E273G |
probably benign |
Het |
| Hadh |
C |
T |
3: 131,029,285 (GRCm39) |
D245N |
probably damaging |
Het |
| Hk2 |
A |
T |
6: 82,711,957 (GRCm39) |
|
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,767,163 (GRCm39) |
Y108* |
probably null |
Het |
| Il10ra |
T |
G |
9: 45,167,247 (GRCm39) |
M435L |
probably benign |
Het |
| Inpp5k |
GT |
G |
11: 75,521,973 (GRCm39) |
|
probably null |
Het |
| Kank4 |
G |
T |
4: 98,666,567 (GRCm39) |
P627T |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,549,346 (GRCm39) |
|
probably benign |
Het |
| Lipn |
A |
G |
19: 34,054,376 (GRCm39) |
I205V |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Myh1 |
T |
C |
11: 67,106,683 (GRCm39) |
M1255T |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Myo1d |
T |
G |
11: 80,448,349 (GRCm39) |
K925N |
probably benign |
Het |
| Myoz1 |
T |
A |
14: 20,699,622 (GRCm39) |
M239L |
probably benign |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nf1 |
C |
A |
11: 79,344,805 (GRCm39) |
|
probably benign |
Het |
| Npepl1 |
C |
T |
2: 173,957,879 (GRCm39) |
P239S |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,170,506 (GRCm39) |
K131R |
probably benign |
Het |
| Or12k5 |
G |
A |
2: 36,895,462 (GRCm39) |
L55F |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,935 (GRCm39) |
F73L |
possibly damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,893 (GRCm39) |
Y94* |
probably null |
Het |
| Or1j20 |
T |
C |
2: 36,760,022 (GRCm39) |
L148S |
possibly damaging |
Het |
| Or4c10 |
T |
A |
2: 89,760,423 (GRCm39) |
I90K |
possibly damaging |
Het |
| Or4f7 |
A |
C |
2: 111,644,213 (GRCm39) |
I286S |
probably damaging |
Het |
| Or5p52 |
C |
T |
7: 107,502,212 (GRCm39) |
T96I |
probably benign |
Het |
| Or6c202 |
C |
T |
10: 128,996,707 (GRCm39) |
D49N |
possibly damaging |
Het |
| Pde7a |
T |
C |
3: 19,295,697 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,903,519 (GRCm39) |
C591R |
probably benign |
Het |
| Pkn2 |
T |
G |
3: 142,559,343 (GRCm39) |
K61Q |
probably damaging |
Het |
| Ppfia1 |
C |
A |
7: 144,058,711 (GRCm39) |
G722C |
probably damaging |
Het |
| Ppp1cb |
T |
C |
5: 32,644,958 (GRCm39) |
V263A |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,895,567 (GRCm39) |
N440K |
possibly damaging |
Het |
| Rbm34 |
T |
A |
8: 127,676,234 (GRCm39) |
K340N |
probably damaging |
Het |
| Samd3 |
T |
C |
10: 26,147,399 (GRCm39) |
|
probably benign |
Het |
| Sigirr |
T |
C |
7: 140,671,285 (GRCm39) |
D399G |
probably damaging |
Het |
| Slc17a7 |
A |
G |
7: 44,824,371 (GRCm39) |
E554G |
probably benign |
Het |
| Smc3 |
A |
G |
19: 53,589,993 (GRCm39) |
|
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,819,703 (GRCm39) |
Y68H |
probably benign |
Het |
| Tespa1 |
T |
A |
10: 130,196,719 (GRCm39) |
L219Q |
probably damaging |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Ttc38 |
A |
G |
15: 85,740,673 (GRCm39) |
S436G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,581,423 (GRCm39) |
I23157F |
probably damaging |
Het |
| Ubxn2b |
T |
A |
4: 6,203,875 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,401,044 (GRCm39) |
E125G |
probably benign |
Het |
| Vmn2r78 |
A |
T |
7: 86,572,235 (GRCm39) |
D532V |
probably benign |
Het |
| Vwa8 |
C |
A |
14: 79,320,222 (GRCm39) |
L1078I |
probably benign |
Het |
| Vwce |
A |
T |
19: 10,641,453 (GRCm39) |
|
probably null |
Het |
| Zpr1 |
A |
G |
9: 46,190,995 (GRCm39) |
D300G |
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2013-08-19 |
Incidental Mutation