Incidental Mutation 'R5431:Sfi1'
ID |
501046 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sfi1
|
Ensembl Gene |
ENSMUSG00000023764 |
Gene Name |
Sfi1 homolog, spindle assembly associated (yeast) |
Synonyms |
2310047I15Rik |
MMRRC Submission |
042847-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.243)
|
Stock # |
R5431 (G1)
|
Quality Score |
142 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
3081850-3143463 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to ATCTTCCCAAAGCCAGTGC
at 3103384 bp (GRCm39)
|
Zygosity |
Homozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066391]
[ENSMUST00000081318]
[ENSMUST00000101655]
[ENSMUST00000132893]
[ENSMUST00000153425]
[ENSMUST00000140846]
|
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 |
noncoding transcript
Transcript: ENSMUST00000120853
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126746
|
SMART Domains |
Protein: ENSMUSP00000122002 Gene: ENSMUSG00000023764
Domain | Start | End | E-Value | Type |
low complexity region
|
73 |
89 |
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 |
noncoding transcript
Transcript: ENSMUST00000141422
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156655
|
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 |
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
T |
C |
16: 88,504,426 (GRCm39) |
S124G |
possibly damaging |
Het |
4921539E11Rik |
T |
C |
4: 103,128,045 (GRCm39) |
T27A |
probably benign |
Het |
Aspg |
T |
A |
12: 112,089,846 (GRCm39) |
N461K |
probably benign |
Het |
B4galnt3 |
T |
A |
6: 120,195,928 (GRCm39) |
T300S |
probably damaging |
Het |
BC035044 |
A |
G |
6: 128,861,970 (GRCm39) |
|
probably benign |
Het |
Bmp5 |
C |
T |
9: 75,800,991 (GRCm39) |
P374S |
probably damaging |
Het |
C330018D20Rik |
A |
T |
18: 57,090,928 (GRCm39) |
F78L |
probably benign |
Het |
Cds2 |
T |
A |
2: 132,144,090 (GRCm39) |
S289T |
probably benign |
Het |
Cerkl |
C |
T |
2: 79,171,679 (GRCm39) |
C393Y |
probably damaging |
Het |
Cibar2 |
C |
A |
8: 120,894,042 (GRCm39) |
|
probably null |
Het |
Ciita |
C |
T |
16: 10,341,656 (GRCm39) |
R1020C |
probably damaging |
Het |
Dcaf13 |
C |
A |
15: 38,986,619 (GRCm39) |
D130E |
probably benign |
Het |
Dnal4 |
C |
T |
15: 79,646,648 (GRCm39) |
G50R |
probably damaging |
Het |
Elfn1 |
A |
G |
5: 139,957,323 (GRCm39) |
N109S |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,824,420 (GRCm39) |
V2435A |
unknown |
Het |
Fam178b |
T |
C |
1: 36,671,566 (GRCm39) |
E185G |
probably damaging |
Het |
Fam227b |
C |
A |
2: 125,968,851 (GRCm39) |
L74F |
probably benign |
Het |
Fgfr4 |
G |
A |
13: 55,304,464 (GRCm39) |
V138I |
probably benign |
Het |
Flnc |
A |
G |
6: 29,456,383 (GRCm39) |
I2161V |
possibly damaging |
Het |
Frmd5 |
T |
C |
2: 121,393,390 (GRCm39) |
N235S |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Ggt6 |
A |
G |
11: 72,328,564 (GRCm39) |
T355A |
possibly damaging |
Het |
Gm14393 |
G |
A |
2: 174,905,669 (GRCm39) |
T41I |
probably damaging |
Het |
Gpr151 |
A |
C |
18: 42,711,932 (GRCm39) |
S249A |
probably damaging |
Het |
Gpr152 |
T |
A |
19: 4,193,746 (GRCm39) |
V429D |
probably benign |
Het |
Grm7 |
G |
A |
6: 111,335,387 (GRCm39) |
M599I |
probably benign |
Het |
Hdac4 |
T |
A |
1: 91,900,512 (GRCm39) |
R54* |
probably null |
Het |
Ice1 |
A |
G |
13: 70,740,769 (GRCm39) |
L2146S |
probably damaging |
Het |
Igfbpl1 |
C |
T |
4: 45,815,588 (GRCm39) |
V183I |
probably benign |
Het |
Kel |
G |
A |
6: 41,675,354 (GRCm39) |
S299F |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,424,433 (GRCm39) |
I1016T |
possibly damaging |
Het |
Lhx3 |
T |
C |
2: 26,091,130 (GRCm39) |
D395G |
probably damaging |
Het |
Micu1 |
T |
C |
10: 59,586,343 (GRCm39) |
Y140H |
possibly damaging |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Nbn |
C |
T |
4: 15,986,593 (GRCm39) |
H665Y |
probably benign |
Het |
Pkhd1 |
G |
T |
1: 20,188,060 (GRCm39) |
T3416K |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,929,840 (GRCm39) |
F232S |
probably damaging |
Het |
Pus7l |
T |
C |
15: 94,427,367 (GRCm39) |
N472D |
probably damaging |
Het |
Rfx1 |
C |
T |
8: 84,809,349 (GRCm39) |
Q225* |
probably null |
Het |
Rnase2a |
T |
C |
14: 51,493,020 (GRCm39) |
Y115C |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,809,237 (GRCm39) |
D386V |
probably benign |
Het |
Sgcz |
T |
A |
8: 38,107,138 (GRCm39) |
T125S |
probably damaging |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,668,695 (GRCm39) |
S36G |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,574,119 (GRCm39) |
L31P |
probably damaging |
Het |
Tenm3 |
C |
A |
8: 48,820,412 (GRCm39) |
E142* |
probably null |
Het |
Tgfbr2 |
G |
T |
9: 115,960,669 (GRCm39) |
S94R |
probably damaging |
Het |
Tut4 |
T |
A |
4: 108,348,609 (GRCm39) |
I297N |
probably damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,239,684 (GRCm39) |
I293T |
probably damaging |
Het |
Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
Zc3h14 |
A |
G |
12: 98,746,324 (GRCm39) |
D511G |
possibly 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 |
|
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'- TACAGGGTCTAAGGCAAAGC -3'
(R):5'- ATCTTATGAGCGTGAAACCTGGC -3'
Sequencing Primer
(F):5'- CAAAGCCGGTGTGTAGTAAGTCTC -3'
(R):5'- CGTGAAACCTGGCAGTATTGATC -3'
|
Posted On |
2017-12-01 |