Incidental Mutation 'R8508:Fbf1'
ID |
655710 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbf1
|
Ensembl Gene |
ENSMUSG00000020776 |
Gene Name |
Fas binding factor 1 |
Synonyms |
1110033G01Rik |
MMRRC Submission |
067844-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8508 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
116033111-116058992 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 116056707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103031]
[ENSMUST00000106435]
[ENSMUST00000124828]
[ENSMUST00000139020]
|
AlphaFold |
A2A870 |
Predicted Effect |
probably null
Transcript: ENSMUST00000103031
AA Change: M1K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000099320 Gene: ENSMUSG00000020776 AA Change: M1K
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
low complexity region
|
120 |
135 |
N/A |
INTRINSIC |
low complexity region
|
151 |
164 |
N/A |
INTRINSIC |
low complexity region
|
201 |
216 |
N/A |
INTRINSIC |
coiled coil region
|
617 |
745 |
N/A |
INTRINSIC |
SCOP:d1sig__
|
808 |
975 |
9e-3 |
SMART |
low complexity region
|
976 |
1005 |
N/A |
INTRINSIC |
low complexity region
|
1031 |
1068 |
N/A |
INTRINSIC |
low complexity region
|
1110 |
1130 |
N/A |
INTRINSIC |
low complexity region
|
1131 |
1146 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106435
AA Change: M1K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000102043 Gene: ENSMUSG00000020776 AA Change: M1K
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
low complexity region
|
120 |
135 |
N/A |
INTRINSIC |
low complexity region
|
151 |
164 |
N/A |
INTRINSIC |
low complexity region
|
201 |
216 |
N/A |
INTRINSIC |
coiled coil region
|
617 |
745 |
N/A |
INTRINSIC |
SCOP:d1sig__
|
808 |
975 |
9e-3 |
SMART |
low complexity region
|
976 |
1005 |
N/A |
INTRINSIC |
low complexity region
|
1031 |
1068 |
N/A |
INTRINSIC |
low complexity region
|
1110 |
1130 |
N/A |
INTRINSIC |
low complexity region
|
1131 |
1146 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000124828
AA Change: M1K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000114558 Gene: ENSMUSG00000020776 AA Change: M1K
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
low complexity region
|
120 |
135 |
N/A |
INTRINSIC |
low complexity region
|
151 |
164 |
N/A |
INTRINSIC |
low complexity region
|
201 |
216 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000139020
AA Change: M1K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
T |
G |
16: 90,852,500 (GRCm39) |
Y212S |
probably damaging |
Het |
Angpt1 |
T |
C |
15: 42,375,795 (GRCm39) |
N154D |
probably damaging |
Het |
Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
Ankrd27 |
T |
A |
7: 35,301,051 (GRCm39) |
L117* |
probably null |
Het |
Arhgap21 |
C |
T |
2: 20,858,991 (GRCm39) |
M1234I |
probably benign |
Het |
Arhgef33 |
A |
G |
17: 80,674,764 (GRCm39) |
E387G |
probably damaging |
Het |
Atp13a4 |
T |
A |
16: 29,273,587 (GRCm39) |
K444* |
probably null |
Het |
Atp6v1a |
G |
A |
16: 43,922,225 (GRCm39) |
R338C |
probably damaging |
Het |
Canx |
T |
C |
11: 50,202,474 (GRCm39) |
D44G |
possibly damaging |
Het |
Ccdc141 |
T |
A |
2: 76,962,588 (GRCm39) |
M119L |
probably benign |
Het |
Ckmt1 |
A |
C |
2: 121,193,172 (GRCm39) |
Q299P |
possibly damaging |
Het |
Dhx16 |
T |
C |
17: 36,196,812 (GRCm39) |
S601P |
probably damaging |
Het |
Dna2 |
A |
C |
10: 62,786,673 (GRCm39) |
R140S |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,384,138 (GRCm39) |
T670A |
probably benign |
Het |
Eif1ad10 |
T |
G |
12: 88,216,455 (GRCm39) |
E139A |
unknown |
Het |
Eogt |
A |
G |
6: 97,120,959 (GRCm39) |
S85P |
possibly damaging |
Het |
Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
Flnb |
G |
A |
14: 7,950,394 (GRCm38) |
V2571I |
probably damaging |
Het |
Gm43518 |
A |
G |
5: 124,076,322 (GRCm39) |
E123G |
unknown |
Het |
Gpatch2 |
A |
G |
1: 187,036,552 (GRCm39) |
N374S |
probably benign |
Het |
Hey1 |
G |
C |
3: 8,729,836 (GRCm39) |
A207G |
probably benign |
Het |
Hoxa11 |
T |
C |
6: 52,222,782 (GRCm39) |
|
probably benign |
Het |
Hydin |
G |
A |
8: 111,308,650 (GRCm39) |
V3979I |
probably benign |
Het |
Ighe |
C |
T |
12: 113,235,413 (GRCm39) |
W277* |
probably null |
Het |
Kmt2c |
G |
T |
5: 25,519,120 (GRCm39) |
T2330K |
probably benign |
Het |
Krt6a |
T |
A |
15: 101,601,170 (GRCm39) |
K261M |
probably damaging |
Het |
Lats2 |
A |
C |
14: 57,960,162 (GRCm39) |
S161A |
probably benign |
Het |
Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
Mipol1 |
T |
C |
12: 57,352,874 (GRCm39) |
V71A |
possibly damaging |
Het |
Mphosph8 |
A |
T |
14: 56,914,003 (GRCm39) |
K415* |
probably null |
Het |
Npepps |
A |
G |
11: 97,135,252 (GRCm39) |
|
probably null |
Het |
Ntn4 |
A |
T |
10: 93,576,966 (GRCm39) |
N545Y |
possibly damaging |
Het |
Or11g1 |
A |
C |
14: 50,651,132 (GRCm39) |
M44L |
probably benign |
Het |
Or1n1b |
A |
G |
2: 36,780,366 (GRCm39) |
S165P |
probably damaging |
Het |
Or2m12 |
T |
C |
16: 19,105,451 (GRCm39) |
D14G |
probably benign |
Het |
Or9i2 |
A |
T |
19: 13,815,766 (GRCm39) |
M257K |
possibly damaging |
Het |
Osbpl2 |
T |
A |
2: 179,797,136 (GRCm39) |
V358E |
possibly damaging |
Het |
Pdcd11 |
C |
A |
19: 47,108,245 (GRCm39) |
P1204Q |
probably damaging |
Het |
Pnliprp2 |
A |
C |
19: 58,751,806 (GRCm39) |
S184R |
probably damaging |
Het |
Ppm1g |
G |
T |
5: 31,361,872 (GRCm39) |
R373S |
probably damaging |
Het |
Rnf130 |
A |
G |
11: 49,978,264 (GRCm39) |
D275G |
probably damaging |
Het |
Rps18-ps5 |
A |
G |
13: 28,441,694 (GRCm39) |
I26V |
probably benign |
Het |
Setd5 |
T |
C |
6: 113,098,048 (GRCm39) |
S696P |
probably damaging |
Het |
Sgip1 |
A |
G |
4: 102,772,268 (GRCm39) |
Q219R |
probably benign |
Het |
Slc1a2 |
T |
C |
2: 102,566,430 (GRCm39) |
|
probably null |
Het |
Slc22a12 |
T |
C |
19: 6,592,467 (GRCm39) |
T106A |
probably benign |
Het |
Slc22a14 |
A |
G |
9: 119,009,651 (GRCm39) |
L148P |
probably damaging |
Het |
Slc2a9 |
A |
T |
5: 38,539,421 (GRCm39) |
F375I |
probably damaging |
Het |
Sorbs3 |
A |
T |
14: 70,440,396 (GRCm39) |
D117E |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,891,412 (GRCm39) |
L136P |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,254,221 (GRCm39) |
T1176I |
probably damaging |
Het |
Supt16 |
A |
T |
14: 52,419,046 (GRCm39) |
V193D |
probably damaging |
Het |
Sytl3 |
A |
G |
17: 6,995,690 (GRCm39) |
T362A |
probably damaging |
Het |
Tctn1 |
T |
A |
5: 122,384,674 (GRCm39) |
Q410L |
probably benign |
Het |
Trbc2 |
T |
C |
6: 41,524,711 (GRCm39) |
Y133H |
|
Het |
Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
Vmn2r120 |
A |
G |
17: 57,832,843 (GRCm39) |
V112A |
probably benign |
Het |
Zfp354b |
A |
T |
11: 50,814,297 (GRCm39) |
S209R |
probably benign |
Het |
Zfp362 |
T |
C |
4: 128,668,399 (GRCm39) |
H391R |
probably damaging |
Het |
|
Other mutations in Fbf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01313:Fbf1
|
APN |
11 |
116,041,907 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01420:Fbf1
|
APN |
11 |
116,036,822 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01971:Fbf1
|
APN |
11 |
116,034,208 (GRCm39) |
unclassified |
probably benign |
|
IGL01995:Fbf1
|
APN |
11 |
116,041,846 (GRCm39) |
missense |
probably null |
0.00 |
IGL02639:Fbf1
|
APN |
11 |
116,043,426 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02884:Fbf1
|
APN |
11 |
116,037,339 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03001:Fbf1
|
APN |
11 |
116,056,712 (GRCm39) |
start gained |
probably benign |
|
IGL03309:Fbf1
|
APN |
11 |
116,038,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R0098:Fbf1
|
UTSW |
11 |
116,038,945 (GRCm39) |
critical splice donor site |
probably null |
|
R0098:Fbf1
|
UTSW |
11 |
116,038,945 (GRCm39) |
critical splice donor site |
probably null |
|
R0234:Fbf1
|
UTSW |
11 |
116,045,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R0234:Fbf1
|
UTSW |
11 |
116,045,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R0257:Fbf1
|
UTSW |
11 |
116,045,917 (GRCm39) |
missense |
probably benign |
0.05 |
R0394:Fbf1
|
UTSW |
11 |
116,043,288 (GRCm39) |
unclassified |
probably benign |
|
R0637:Fbf1
|
UTSW |
11 |
116,050,880 (GRCm39) |
unclassified |
probably benign |
|
R1512:Fbf1
|
UTSW |
11 |
116,038,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R1679:Fbf1
|
UTSW |
11 |
116,041,843 (GRCm39) |
critical splice donor site |
probably null |
|
R1726:Fbf1
|
UTSW |
11 |
116,036,280 (GRCm39) |
missense |
probably benign |
|
R1909:Fbf1
|
UTSW |
11 |
116,036,818 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1970:Fbf1
|
UTSW |
11 |
116,042,317 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2507:Fbf1
|
UTSW |
11 |
116,046,252 (GRCm39) |
missense |
probably benign |
|
R2847:Fbf1
|
UTSW |
11 |
116,048,514 (GRCm39) |
critical splice donor site |
probably null |
|
R2849:Fbf1
|
UTSW |
11 |
116,048,514 (GRCm39) |
critical splice donor site |
probably null |
|
R2867:Fbf1
|
UTSW |
11 |
116,052,274 (GRCm39) |
unclassified |
probably benign |
|
R3161:Fbf1
|
UTSW |
11 |
116,039,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R3711:Fbf1
|
UTSW |
11 |
116,054,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R3711:Fbf1
|
UTSW |
11 |
116,052,299 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3752:Fbf1
|
UTSW |
11 |
116,038,622 (GRCm39) |
missense |
probably benign |
0.21 |
R4293:Fbf1
|
UTSW |
11 |
116,039,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R4344:Fbf1
|
UTSW |
11 |
116,038,568 (GRCm39) |
missense |
probably benign |
|
R4345:Fbf1
|
UTSW |
11 |
116,038,568 (GRCm39) |
missense |
probably benign |
|
R4604:Fbf1
|
UTSW |
11 |
116,049,748 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4828:Fbf1
|
UTSW |
11 |
116,039,777 (GRCm39) |
missense |
probably benign |
0.00 |
R4936:Fbf1
|
UTSW |
11 |
116,043,378 (GRCm39) |
missense |
probably benign |
0.05 |
R5561:Fbf1
|
UTSW |
11 |
116,048,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R6392:Fbf1
|
UTSW |
11 |
116,043,775 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6559:Fbf1
|
UTSW |
11 |
116,046,272 (GRCm39) |
missense |
probably benign |
0.15 |
R6993:Fbf1
|
UTSW |
11 |
116,043,610 (GRCm39) |
missense |
probably benign |
|
R7207:Fbf1
|
UTSW |
11 |
116,040,300 (GRCm39) |
missense |
probably benign |
0.01 |
R7544:Fbf1
|
UTSW |
11 |
116,056,659 (GRCm39) |
missense |
probably benign |
0.01 |
R7988:Fbf1
|
UTSW |
11 |
116,043,594 (GRCm39) |
missense |
probably benign |
0.00 |
R8230:Fbf1
|
UTSW |
11 |
116,037,565 (GRCm39) |
missense |
probably benign |
|
R8262:Fbf1
|
UTSW |
11 |
116,044,845 (GRCm39) |
missense |
probably benign |
0.19 |
X0020:Fbf1
|
UTSW |
11 |
116,041,619 (GRCm39) |
missense |
possibly damaging |
0.78 |
X0060:Fbf1
|
UTSW |
11 |
116,039,682 (GRCm39) |
nonsense |
probably null |
|
X0062:Fbf1
|
UTSW |
11 |
116,040,252 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- GATTTTCCTAATGTTGCCCTGG -3'
(R):5'- CTGGGAAATGCTGAATTCTACC -3'
Sequencing Primer
(F):5'- CTGGCATGGGACCAGCG -3'
(R):5'- GCTATGTAGCTGAGGATAGCC -3'
|
Posted On |
2020-10-20 |