Incidental Mutation 'R0197:Sfi1'
| ID |
65796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfi1
|
| Ensembl Gene |
ENSMUSG00000023764 |
| Gene Name |
Sfi1 homolog, spindle assembly associated (yeast) |
| Synonyms |
2310047I15Rik |
| MMRRC Submission |
038456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R0197 (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: 98.6%
- 3x: 97.3%
- 10x: 92.5%
- 20x: 75.9%
|
| Validation Efficiency |
97% (121/125) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,775,632 (GRCm39) |
L1607P |
probably damaging |
Het |
| 1700016H13Rik |
T |
C |
5: 103,796,687 (GRCm39) |
*118W |
probably null |
Het |
| Abcc2 |
A |
T |
19: 43,815,053 (GRCm39) |
R1147* |
probably null |
Het |
| Acsbg3 |
A |
T |
17: 57,190,835 (GRCm39) |
N468Y |
probably benign |
Het |
| Agap2 |
A |
G |
10: 126,927,571 (GRCm39) |
T1131A |
possibly damaging |
Het |
| Aldh9a1 |
A |
G |
1: 167,189,416 (GRCm39) |
D388G |
probably damaging |
Het |
| Ap3d1 |
G |
T |
10: 80,565,876 (GRCm39) |
A97E |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,012,636 (GRCm39) |
V320E |
probably damaging |
Het |
| Baiap2l1 |
C |
A |
5: 144,202,820 (GRCm39) |
V498L |
probably damaging |
Het |
| Bltp2 |
A |
C |
11: 78,160,530 (GRCm39) |
|
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,762,633 (GRCm39) |
N437S |
probably benign |
Het |
| Cert1 |
T |
A |
13: 96,685,795 (GRCm39) |
Y63N |
probably benign |
Het |
| Cfap119 |
T |
C |
7: 127,184,034 (GRCm39) |
E261G |
probably damaging |
Het |
| Cfap20dc |
C |
T |
14: 8,518,695 (GRCm38) |
G254R |
probably damaging |
Het |
| Chd1 |
C |
A |
17: 15,945,693 (GRCm39) |
N72K |
probably benign |
Het |
| Cstf2t |
A |
T |
19: 31,062,026 (GRCm39) |
M521L |
probably benign |
Het |
| Dlx5 |
T |
C |
6: 6,881,619 (GRCm39) |
K90E |
possibly damaging |
Het |
| Dmp1 |
A |
G |
5: 104,355,496 (GRCm39) |
E32G |
possibly damaging |
Het |
| Espnl |
T |
G |
1: 91,272,211 (GRCm39) |
Y524D |
probably damaging |
Het |
| Fam20c |
T |
C |
5: 138,741,479 (GRCm39) |
L30P |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,479,590 (GRCm39) |
A2879S |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,931,732 (GRCm39) |
V337D |
probably damaging |
Het |
| Gart |
C |
A |
16: 91,420,291 (GRCm39) |
D851Y |
possibly damaging |
Het |
| Gcc1 |
T |
C |
6: 28,420,615 (GRCm39) |
H234R |
probably damaging |
Het |
| Gemin6 |
T |
A |
17: 80,535,524 (GRCm39) |
H161Q |
probably damaging |
Het |
| Glt6d1 |
A |
G |
2: 25,684,082 (GRCm39) |
I308T |
probably benign |
Het |
| Gm10320 |
T |
C |
13: 98,628,491 (GRCm39) |
T7A |
probably benign |
Het |
| Gm10912 |
T |
C |
2: 103,896,875 (GRCm39) |
S5P |
probably benign |
Het |
| Gmpr2 |
T |
A |
14: 55,910,192 (GRCm39) |
D7E |
possibly damaging |
Het |
| Hc |
A |
G |
2: 34,874,762 (GRCm39) |
Y1620H |
probably damaging |
Het |
| Hoxa3 |
T |
C |
6: 52,147,123 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,309,907 (GRCm39) |
T1105A |
probably benign |
Het |
| Kdr |
G |
T |
5: 76,129,082 (GRCm39) |
T188N |
possibly damaging |
Het |
| Lepr |
A |
T |
4: 101,609,349 (GRCm39) |
D312V |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,880,329 (GRCm39) |
V501A |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,699,216 (GRCm39) |
Y267C |
probably damaging |
Het |
| Med13 |
T |
A |
11: 86,197,864 (GRCm39) |
T736S |
probably benign |
Het |
| Med13l |
T |
C |
5: 118,809,067 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
| Ndrg2 |
T |
A |
14: 52,144,460 (GRCm39) |
|
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,543 (GRCm39) |
S365T |
possibly damaging |
Het |
| Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
| Or4c10 |
A |
G |
2: 89,760,545 (GRCm39) |
T131A |
probably benign |
Het |
| Or4k48 |
C |
T |
2: 111,476,136 (GRCm39) |
V69I |
probably benign |
Het |
| Or51e1 |
T |
A |
7: 102,359,202 (GRCm39) |
H245Q |
probably damaging |
Het |
| Pds5b |
C |
A |
5: 150,677,896 (GRCm39) |
Q505K |
probably benign |
Het |
| Pramel22 |
C |
T |
4: 143,383,010 (GRCm39) |
E70K |
possibly damaging |
Het |
| Rfx2 |
T |
C |
17: 57,110,722 (GRCm39) |
Y88C |
probably damaging |
Het |
| Rpl6 |
T |
C |
5: 121,346,541 (GRCm39) |
V214A |
probably benign |
Het |
| Samd3 |
T |
A |
10: 26,147,752 (GRCm39) |
C476S |
possibly damaging |
Het |
| Shank1 |
C |
T |
7: 44,001,718 (GRCm39) |
R1146W |
unknown |
Het |
| Smcr8 |
T |
C |
11: 60,668,941 (GRCm39) |
Y30H |
probably damaging |
Het |
| Smpd4 |
T |
A |
16: 17,459,461 (GRCm39) |
|
probably null |
Het |
| Strip1 |
C |
A |
3: 107,521,929 (GRCm39) |
D750Y |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,070,851 (GRCm39) |
K2312E |
possibly damaging |
Het |
| Taf1c |
A |
T |
8: 120,326,722 (GRCm39) |
I438N |
probably damaging |
Het |
| Tnfaip1 |
A |
T |
11: 78,420,840 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,831,031 (GRCm39) |
L797Q |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,264,330 (GRCm39) |
W1754R |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,613,378 (GRCm39) |
P1301L |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Vps41 |
T |
G |
13: 19,038,833 (GRCm39) |
|
probably null |
Het |
| Vps72 |
G |
T |
3: 95,029,894 (GRCm39) |
L304F |
probably damaging |
Het |
| Wiz |
A |
T |
17: 32,575,415 (GRCm39) |
I907N |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,978,119 (GRCm39) |
T765A |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,976,500 (GRCm39) |
H923L |
probably damaging |
Het |
| Zp2 |
A |
T |
7: 119,742,799 (GRCm39) |
|
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 |
|
|
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