Incidental Mutation 'R1403:Sfi1'
| ID |
160453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfi1
|
| Ensembl Gene |
ENSMUSG00000023764 |
| Gene Name |
Sfi1 homolog, spindle assembly associated (yeast) |
| Synonyms |
2310047I15Rik |
| MMRRC Submission |
039465-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R1403 (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: 99.3%
- 3x: 97.5%
- 10x: 88.5%
- 20x: 65.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf2 |
G |
T |
11: 94,453,700 (GRCm39) |
N420K |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,022,229 (GRCm39) |
C420* |
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,874,909 (GRCm39) |
Y424C |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,576,246 (GRCm39) |
V553A |
probably benign |
Het |
| Akr7a5 |
T |
A |
4: 139,045,434 (GRCm39) |
M325K |
probably damaging |
Het |
| Aldh7a1 |
C |
A |
18: 56,692,341 (GRCm39) |
E87* |
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,767,578 (GRCm39) |
K7E |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,466,114 (GRCm39) |
D1959E |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Chil5 |
G |
T |
3: 105,925,409 (GRCm39) |
Q171K |
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dhrs7c |
A |
T |
11: 67,702,476 (GRCm39) |
I155F |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,603,300 (GRCm39) |
|
probably null |
Het |
| Fam124b |
T |
C |
1: 80,191,056 (GRCm39) |
Y109C |
possibly damaging |
Het |
| Gak |
T |
A |
5: 108,739,011 (GRCm39) |
K156M |
probably damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Got1l1 |
C |
G |
8: 27,690,745 (GRCm39) |
|
probably null |
Het |
| Grm1 |
T |
C |
10: 10,955,879 (GRCm39) |
D135G |
probably benign |
Het |
| Hrh3 |
T |
G |
2: 179,744,547 (GRCm39) |
D131A |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,267,411 (GRCm39) |
L2042F |
possibly damaging |
Het |
| Itpr1 |
A |
T |
6: 108,366,514 (GRCm39) |
Q979L |
probably null |
Het |
| Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
| Lingo2 |
A |
T |
4: 35,709,420 (GRCm39) |
C187S |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,417,760 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
T |
C |
7: 27,028,464 (GRCm39) |
N266S |
unknown |
Het |
| Mgam |
G |
A |
6: 40,643,815 (GRCm39) |
S581N |
possibly damaging |
Het |
| Mrgpra9 |
T |
A |
7: 46,885,386 (GRCm39) |
I94L |
probably benign |
Het |
| Msantd4 |
A |
T |
9: 4,384,023 (GRCm39) |
I115F |
probably benign |
Het |
| Nrxn1 |
A |
C |
17: 90,950,481 (GRCm39) |
L566R |
probably benign |
Het |
| Or5p59 |
T |
A |
7: 107,702,822 (GRCm39) |
I102N |
probably benign |
Het |
| Prl7d1 |
A |
T |
13: 27,893,180 (GRCm39) |
F243I |
possibly damaging |
Het |
| Rbm27 |
T |
C |
18: 42,450,746 (GRCm39) |
S509P |
probably damaging |
Het |
| Rnf44 |
C |
T |
13: 54,829,821 (GRCm39) |
E306K |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,416,520 (GRCm39) |
R1531G |
possibly damaging |
Het |
| Sf3b4 |
A |
G |
3: 96,080,953 (GRCm39) |
|
probably null |
Het |
| Sp110 |
T |
G |
1: 85,506,800 (GRCm39) |
E421A |
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,836,603 (GRCm39) |
E2980D |
probably benign |
Het |
| Vwa2 |
C |
T |
19: 56,869,570 (GRCm39) |
P2S |
unknown |
Het |
| Wdr77 |
G |
A |
3: 105,874,573 (GRCm39) |
V322I |
possibly damaging |
Het |
| Zfp12 |
C |
A |
5: 143,230,535 (GRCm39) |
Y287* |
probably null |
Het |
| Zfp937 |
T |
A |
2: 150,080,868 (GRCm39) |
Y299* |
probably null |
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 |
|
|
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'- GTCCCAGGAGAAAGTACCGGCTAA -3'
(R):5'- ACCTAGCAAACTGGTGAAGATCAAACAT -3'
Sequencing Primer
(F):5'- TGAGATCAAAAGGCCCTCATTCTG -3'
(R):5'- CAAACATAACACTTCATTCTGTTCC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation