Incidental Mutation 'R8262:Fbf1'
| ID |
639874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbf1
|
| Ensembl Gene |
ENSMUSG00000020776 |
| Gene Name |
Fas binding factor 1 |
| Synonyms |
1110033G01Rik |
| MMRRC Submission |
067687-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8262 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116033111-116058992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116044845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 323
(T323I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103031]
[ENSMUST00000106435]
[ENSMUST00000124828]
|
| AlphaFold |
A2A870 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103031
AA Change: T323I
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099320
Gene: ENSMUSG00000020776
AA Change: T323I
| 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 benign
Transcript: ENSMUST00000106435
AA Change: T323I
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102043
Gene: ENSMUSG00000020776
AA Change: T323I
| 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 benign
Transcript: ENSMUST00000124828
|
| SMART Domains |
Protein: ENSMUSP00000114558
Gene: ENSMUSG00000020776
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,107,709 (GRCm39) |
D358G |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,022,178 (GRCm39) |
C437* |
probably null |
Het |
| Arhgap10 |
A |
T |
8: 78,037,468 (GRCm39) |
C587S |
probably benign |
Het |
| Bank1 |
G |
A |
3: 135,948,721 (GRCm39) |
T285I |
probably benign |
Het |
| Bhlha15 |
C |
T |
5: 144,128,257 (GRCm39) |
S123L |
probably damaging |
Het |
| Cacul1 |
T |
C |
19: 60,517,475 (GRCm39) |
*305W |
probably null |
Het |
| Cep112 |
A |
C |
11: 108,393,977 (GRCm39) |
K365T |
probably damaging |
Het |
| Chrm1 |
T |
A |
19: 8,656,453 (GRCm39) |
L386Q |
probably damaging |
Het |
| Cnbp |
C |
A |
6: 87,822,194 (GRCm39) |
R110L |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,116,140 (GRCm39) |
I541F |
possibly damaging |
Het |
| Dscaml1 |
T |
G |
9: 45,658,438 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
C |
T |
10: 24,653,824 (GRCm39) |
S711N |
probably damaging |
Het |
| Eps8 |
G |
T |
6: 137,459,252 (GRCm39) |
N750K |
probably benign |
Het |
| Fan1 |
G |
T |
7: 64,023,054 (GRCm39) |
N66K |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,127,517 (GRCm39) |
N2143I |
unknown |
Het |
| Fn3k |
A |
C |
11: 121,339,744 (GRCm39) |
T169P |
probably benign |
Het |
| Fubp1 |
T |
G |
3: 151,926,356 (GRCm39) |
I320R |
probably damaging |
Het |
| Gfpt2 |
A |
T |
11: 49,714,607 (GRCm39) |
E335D |
probably benign |
Het |
| Gm17472 |
T |
C |
6: 42,957,968 (GRCm39) |
I79T |
probably benign |
Het |
| Gpr151 |
C |
A |
18: 42,711,437 (GRCm39) |
E414* |
probably null |
Het |
| Gpr179 |
G |
A |
11: 97,226,983 (GRCm39) |
S1724L |
probably benign |
Het |
| Gtf2h3 |
C |
A |
5: 124,728,967 (GRCm39) |
Y175* |
probably null |
Het |
| Hal |
T |
A |
10: 93,328,369 (GRCm39) |
I215N |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,053,304 (GRCm39) |
T2546A |
probably benign |
Het |
| Ighv1-11 |
T |
C |
12: 114,576,077 (GRCm39) |
Y46C |
probably damaging |
Het |
| Lcn4 |
T |
C |
2: 26,558,375 (GRCm39) |
D170G |
probably benign |
Het |
| Lrch1 |
T |
A |
14: 75,055,935 (GRCm39) |
D306V |
probably damaging |
Het |
| Mtcl1 |
A |
C |
17: 66,650,653 (GRCm39) |
V1604G |
probably damaging |
Het |
| Or10g3b |
T |
C |
14: 52,586,625 (GRCm39) |
N293D |
probably damaging |
Het |
| Or3a10 |
A |
G |
11: 73,935,926 (GRCm39) |
L58P |
probably damaging |
Het |
| Or4c108 |
T |
G |
2: 88,803,552 (GRCm39) |
S228R |
probably damaging |
Het |
| Or4k49 |
T |
G |
2: 111,494,587 (GRCm39) |
N5K |
possibly damaging |
Het |
| Or9i1b |
G |
A |
19: 13,897,226 (GRCm39) |
V281I |
probably benign |
Het |
| Ormdl2 |
A |
G |
10: 128,654,837 (GRCm39) |
L125P |
possibly damaging |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Pde3a |
T |
A |
6: 141,433,527 (GRCm39) |
F803Y |
possibly damaging |
Het |
| Pnpla7 |
C |
T |
2: 24,873,635 (GRCm39) |
R214W |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,813,520 (GRCm39) |
V960A |
probably benign |
Het |
| Ptgdr |
T |
C |
14: 45,090,858 (GRCm39) |
E300G |
probably benign |
Het |
| Ptpru |
G |
T |
4: 131,522,274 (GRCm39) |
Y710* |
probably null |
Het |
| Pxdn |
T |
A |
12: 30,049,195 (GRCm39) |
Y620* |
probably null |
Het |
| Pycard |
T |
C |
7: 127,592,797 (GRCm39) |
D10G |
possibly damaging |
Het |
| Sh3d21 |
G |
T |
4: 126,055,775 (GRCm39) |
Q160K |
probably benign |
Het |
| Slc26a7 |
G |
A |
4: 14,621,269 (GRCm39) |
P39L |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,068,928 (GRCm39) |
Y936N |
probably damaging |
Het |
| Sox8 |
T |
C |
17: 25,786,617 (GRCm39) |
D362G |
possibly damaging |
Het |
| Tcp11 |
T |
G |
17: 28,286,001 (GRCm39) |
N538T |
probably damaging |
Het |
| Tent2 |
T |
C |
13: 93,310,997 (GRCm39) |
|
probably benign |
Het |
| Tmem132e |
A |
C |
11: 82,325,666 (GRCm39) |
E222A |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,937,602 (GRCm39) |
E618G |
probably benign |
Het |
| Tsc2 |
G |
T |
17: 24,833,340 (GRCm39) |
Q695K |
probably benign |
Het |
| Txlnb |
C |
A |
10: 17,718,752 (GRCm39) |
L528M |
possibly damaging |
Het |
| Vmn1r176 |
A |
G |
7: 23,534,878 (GRCm39) |
Y92H |
probably benign |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,738 (GRCm39) |
I649F |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,171,272 (GRCm39) |
|
probably null |
Het |
| Wrn |
A |
T |
8: 33,814,274 (GRCm39) |
I390N |
probably benign |
Het |
| Zfp493 |
T |
A |
13: 67,934,976 (GRCm39) |
C310S |
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 |
|
|
R8508:Fbf1
|
UTSW |
11 |
116,056,707 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
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'- TCATGACATTCAGGGCTTCAAG -3'
(R):5'- GGCCACCACTTGTTTGATTG -3'
Sequencing Primer
(F):5'- TGAGAGCGAGGTCCTGGTC -3'
(R):5'- ATTGTCTTCCCTGGGCTGCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation