Incidental Mutation 'R8891:Sfi1'
ID |
677701 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sfi1
|
Ensembl Gene |
ENSMUSG00000023764 |
Gene Name |
Sfi1 homolog, spindle assembly associated (yeast) |
Synonyms |
2310047I15Rik |
MMRRC Submission |
068753-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.243)
|
Stock # |
R8891 (G1)
|
Quality Score |
113.467 |
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 |
Heterozygous |
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
T |
3: 137,772,520 (GRCm39) |
K570* |
probably null |
Het |
Abi1 |
T |
C |
2: 22,861,262 (GRCm39) |
I99V |
probably damaging |
Het |
Abtb3 |
G |
A |
10: 85,223,958 (GRCm39) |
G256R |
unknown |
Het |
Adgrg7 |
T |
A |
16: 56,572,762 (GRCm39) |
E351D |
probably benign |
Het |
Ankrd34c |
T |
G |
9: 89,612,143 (GRCm39) |
K66T |
probably damaging |
Het |
Asap2 |
C |
T |
12: 21,162,144 (GRCm39) |
R34W |
probably damaging |
Het |
Atr |
A |
G |
9: 95,787,813 (GRCm39) |
T1469A |
probably benign |
Het |
Ccdc168 |
T |
C |
1: 44,096,284 (GRCm39) |
I1605V |
probably benign |
Het |
Celsr1 |
G |
T |
15: 85,822,194 (GRCm39) |
R1708S |
probably benign |
Het |
Chmp2a |
T |
A |
7: 12,767,840 (GRCm39) |
E28D |
probably benign |
Het |
Cldn24 |
A |
T |
8: 48,275,281 (GRCm39) |
N35I |
probably benign |
Het |
Coa6 |
G |
C |
8: 127,149,570 (GRCm39) |
|
probably null |
Het |
Copa |
C |
T |
1: 171,946,818 (GRCm39) |
R1009C |
probably damaging |
Het |
Crybb2 |
G |
A |
5: 113,209,913 (GRCm39) |
T150M |
possibly damaging |
Het |
Ctnnd2 |
A |
T |
15: 30,620,076 (GRCm39) |
T143S |
probably benign |
Het |
Eid3 |
A |
G |
10: 82,702,992 (GRCm39) |
N151S |
probably damaging |
Het |
Fbxo17 |
G |
T |
7: 28,434,733 (GRCm39) |
V173L |
possibly damaging |
Het |
Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
Galntl6 |
T |
C |
8: 58,415,433 (GRCm39) |
N240S |
probably damaging |
Het |
Gck |
G |
T |
11: 5,851,733 (GRCm39) |
S445R |
probably damaging |
Het |
Gm5114 |
C |
A |
7: 39,057,718 (GRCm39) |
V634F |
probably benign |
Het |
Gnat2 |
G |
A |
3: 108,005,634 (GRCm39) |
D200N |
|
Het |
H13 |
A |
G |
2: 152,546,049 (GRCm39) |
N390S |
probably benign |
Het |
Helz |
T |
A |
11: 107,552,842 (GRCm39) |
M1206K |
probably damaging |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Kank1 |
G |
A |
19: 25,387,439 (GRCm39) |
G371R |
probably benign |
Het |
Kif13b |
A |
G |
14: 64,982,326 (GRCm39) |
T513A |
probably damaging |
Het |
L3mbtl4 |
T |
C |
17: 68,762,781 (GRCm39) |
S105P |
possibly damaging |
Het |
Lpo |
T |
A |
11: 87,697,848 (GRCm39) |
E653V |
probably benign |
Het |
Lyst |
A |
G |
13: 13,887,435 (GRCm39) |
D3088G |
possibly damaging |
Het |
Man2b1 |
C |
A |
8: 85,811,084 (GRCm39) |
H72N |
probably damaging |
Het |
Mast3 |
A |
T |
8: 71,233,801 (GRCm39) |
H981Q |
probably damaging |
Het |
Meioc |
T |
A |
11: 102,559,246 (GRCm39) |
I56N |
probably benign |
Het |
Mul1 |
A |
C |
4: 138,162,164 (GRCm39) |
K32Q |
probably benign |
Het |
Oas1c |
C |
T |
5: 120,946,126 (GRCm39) |
S124N |
probably benign |
Het |
Omg |
T |
A |
11: 79,393,829 (GRCm39) |
K10* |
probably null |
Het |
Or2a52 |
A |
G |
6: 43,144,750 (GRCm39) |
I253V |
probably benign |
Het |
Or4k52 |
A |
T |
2: 111,611,186 (GRCm39) |
I174F |
probably damaging |
Het |
Or6c88 |
A |
G |
10: 129,407,046 (GRCm39) |
H174R |
probably damaging |
Het |
Pcdhb14 |
T |
A |
18: 37,582,692 (GRCm39) |
N599K |
probably damaging |
Het |
Pcdhb18 |
C |
A |
18: 37,623,700 (GRCm39) |
N343K |
probably damaging |
Het |
Phf7 |
C |
A |
14: 30,971,613 (GRCm39) |
|
probably benign |
Het |
Pramel15 |
C |
T |
4: 144,099,397 (GRCm39) |
C456Y |
probably damaging |
Het |
Qdpr |
T |
C |
5: 45,604,982 (GRCm39) |
N42S |
probably damaging |
Het |
Rbm44 |
T |
A |
1: 91,090,136 (GRCm39) |
D716E |
probably benign |
Het |
Rprd2 |
A |
C |
3: 95,671,367 (GRCm39) |
H1345Q |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,814,768 (GRCm39) |
A668V |
probably damaging |
Het |
Sag |
T |
A |
1: 87,759,683 (GRCm39) |
L307Q |
probably damaging |
Het |
Sash1 |
G |
A |
10: 8,603,734 (GRCm39) |
P1106L |
probably damaging |
Het |
Sec16b |
T |
A |
1: 157,382,409 (GRCm39) |
I615N |
probably damaging |
Het |
Slco1b2 |
T |
C |
6: 141,628,993 (GRCm39) |
V600A |
probably benign |
Het |
Sucnr1 |
A |
G |
3: 59,994,263 (GRCm39) |
T264A |
probably benign |
Het |
Tbx3 |
A |
G |
5: 119,809,983 (GRCm39) |
|
probably benign |
Het |
Tigd5 |
T |
C |
15: 75,783,069 (GRCm39) |
V477A |
possibly damaging |
Het |
Tle7 |
T |
A |
8: 110,836,763 (GRCm39) |
S216R |
possibly damaging |
Het |
Ttc17 |
G |
A |
2: 94,192,764 (GRCm39) |
A89V |
probably damaging |
Het |
Twsg1 |
A |
G |
17: 66,255,657 (GRCm39) |
I39T |
|
Het |
Zfp184 |
T |
C |
13: 22,143,512 (GRCm39) |
F406S |
probably damaging |
Het |
Zfp429 |
A |
T |
13: 67,538,830 (GRCm39) |
C205S |
probably damaging |
Het |
Zfp59 |
T |
A |
7: 27,554,313 (GRCm39) |
D588E |
probably benign |
Het |
Zfp64 |
A |
T |
2: 168,797,083 (GRCm39) |
M1K |
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 |
|
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 |
|
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 |
2021-08-02 |