Incidental Mutation 'R8111:Sfi1'
| ID |
630884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfi1
|
| Ensembl Gene |
ENSMUSG00000023764 |
| Gene Name |
Sfi1 homolog, spindle assembly associated (yeast) |
| Synonyms |
2310047I15Rik |
| MMRRC Submission |
067540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R8111 (G1)
|
| Quality Score |
217.468 |
|
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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
T |
14: 32,382,266 (GRCm39) |
W1233* |
probably null |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,691 (GRCm39) |
I247V |
probably benign |
Het |
| 8030423J24Rik |
T |
A |
13: 71,032,077 (GRCm39) |
C50S |
unknown |
Het |
| Adam29 |
T |
G |
8: 56,324,585 (GRCm39) |
H623P |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,203 (GRCm39) |
V318A |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,614,058 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,113,530 (GRCm39) |
I893T |
unknown |
Het |
| Apob |
G |
A |
12: 8,058,801 (GRCm39) |
A2428T |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,301,674 (GRCm39) |
V660A |
probably benign |
Het |
| Atf7 |
G |
T |
15: 102,471,769 (GRCm39) |
T42K |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,366 (GRCm39) |
I160N |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,832,786 (GRCm39) |
V429A |
possibly damaging |
Het |
| Bpifb3 |
A |
C |
2: 153,764,609 (GRCm39) |
H167P |
probably benign |
Het |
| Cacna1f |
G |
T |
X: 7,487,326 (GRCm39) |
E921D |
probably damaging |
Het |
| Ccdc57 |
T |
A |
11: 120,769,713 (GRCm39) |
L713F |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,494,526 (GRCm39) |
E385K |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 15,967,306 (GRCm39) |
V3186I |
probably benign |
Het |
| Dclre1c |
T |
A |
2: 3,448,185 (GRCm39) |
D349E |
probably benign |
Het |
| Dlg1 |
C |
T |
16: 31,661,620 (GRCm39) |
T657M |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,148,688 (GRCm39) |
I919V |
probably benign |
Het |
| Dync2i2 |
C |
A |
2: 29,921,859 (GRCm39) |
A501S |
possibly damaging |
Het |
| Eml5 |
A |
G |
12: 98,758,773 (GRCm39) |
|
probably null |
Het |
| Epas1 |
C |
A |
17: 87,125,860 (GRCm39) |
S286* |
probably null |
Het |
| Fat1 |
G |
A |
8: 45,479,095 (GRCm39) |
V2714I |
possibly damaging |
Het |
| Fuca2 |
T |
C |
10: 13,390,545 (GRCm39) |
M447T |
probably benign |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm11110 |
A |
C |
17: 57,410,427 (GRCm39) |
C24G |
probably null |
Het |
| Gm6176 |
T |
A |
7: 21,750,593 (GRCm39) |
I113F |
probably benign |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpat2 |
G |
T |
2: 127,275,777 (GRCm39) |
L518F |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Hgsnat |
C |
T |
8: 26,458,440 (GRCm39) |
V195I |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,955,583 (GRCm39) |
S1300T |
probably damaging |
Het |
| Hs3st2 |
A |
T |
7: 120,992,362 (GRCm39) |
H137L |
probably damaging |
Het |
| Iffo1 |
T |
C |
6: 125,122,781 (GRCm39) |
S188P |
possibly damaging |
Het |
| Itih1 |
T |
C |
14: 30,654,225 (GRCm39) |
D684G |
probably damaging |
Het |
| Lrba |
C |
A |
3: 86,235,012 (GRCm39) |
N852K |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,709,930 (GRCm39) |
S425P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,674,003 (GRCm39) |
S562T |
possibly damaging |
Het |
| Mex3a |
T |
C |
3: 88,444,064 (GRCm39) |
V380A |
probably benign |
Het |
| Mgat4d |
A |
T |
8: 84,094,776 (GRCm39) |
N271I |
probably damaging |
Het |
| Mmp24 |
T |
A |
2: 155,649,345 (GRCm39) |
V254E |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,503,925 (GRCm39) |
R6455S |
possibly damaging |
Het |
| Npffr1 |
T |
A |
10: 61,459,128 (GRCm39) |
V127E |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,541 (GRCm39) |
N165K |
probably damaging |
Het |
| Or10g3b |
G |
A |
14: 52,587,344 (GRCm39) |
T53M |
possibly damaging |
Het |
| Otulin |
A |
C |
15: 27,606,381 (GRCm39) |
V344G |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,180,229 (GRCm39) |
D1030G |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
| Ppp2r3c |
C |
A |
12: 55,344,634 (GRCm39) |
M111I |
probably benign |
Het |
| Prss37 |
T |
C |
6: 40,494,747 (GRCm39) |
T13A |
probably benign |
Het |
| Sgo2b |
T |
A |
8: 64,396,138 (GRCm39) |
K39N |
probably damaging |
Het |
| Sike1 |
T |
C |
3: 102,909,123 (GRCm39) |
*208Q |
probably null |
Het |
| Spire1 |
A |
G |
18: 67,652,391 (GRCm39) |
S229P |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,699,857 (GRCm39) |
I132V |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,190,792 (GRCm39) |
V213A |
probably damaging |
Het |
| Washc1 |
C |
G |
17: 66,423,033 (GRCm39) |
Q116E |
probably benign |
Het |
| Zfp553 |
T |
A |
7: 126,836,093 (GRCm39) |
C549* |
probably null |
Het |
| Zfp9 |
G |
A |
6: 118,441,561 (GRCm39) |
P367L |
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 |
|
|
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'- TTCTGAAAACCCAGAGGACCAG -3'
(R):5'- ACACTGCATACGATTAAAGATGC -3'
Sequencing Primer
(F):5'- GGAAACCAGTAACACAAAGCCAAGG -3'
(R):5'- TATAGCTGTGAGCCACCATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation