Incidental Mutation 'R6392:Fbf1'
| ID |
515822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbf1
|
| Ensembl Gene |
ENSMUSG00000020776 |
| Gene Name |
Fas binding factor 1 |
| Synonyms |
1110033G01Rik |
| MMRRC Submission |
044541-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6392 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116033111-116058992 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 116043775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103031]
[ENSMUST00000103031]
[ENSMUST00000103031]
[ENSMUST00000106435]
[ENSMUST00000106435]
[ENSMUST00000106435]
[ENSMUST00000124828]
|
| AlphaFold |
A2A870 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000103031
|
| SMART Domains |
Protein: ENSMUSP00000099320
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 |
|
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: ENSMUST00000103031
|
| SMART Domains |
Protein: ENSMUSP00000099320
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 |
|
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: ENSMUST00000103031
|
| SMART Domains |
Protein: ENSMUSP00000099320
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000102043
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000102043
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000102043
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 |
|
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150703
|
| Meta Mutation Damage Score |
0.9484 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.1%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
A |
T |
17: 45,825,526 (GRCm39) |
I330F |
probably damaging |
Het |
| Abcc9 |
A |
G |
6: 142,627,825 (GRCm39) |
S402P |
probably damaging |
Het |
| Ada |
A |
G |
2: 163,570,137 (GRCm39) |
L292P |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,038 (GRCm39) |
N395K |
probably benign |
Het |
| Adra1d |
T |
C |
2: 131,403,529 (GRCm39) |
D187G |
probably damaging |
Het |
| AI467606 |
C |
A |
7: 126,691,717 (GRCm39) |
Y97* |
probably null |
Het |
| Arid2 |
A |
G |
15: 96,259,483 (GRCm39) |
E245G |
probably damaging |
Het |
| Ccdc78 |
C |
G |
17: 26,007,148 (GRCm39) |
Q213E |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,077,472 (GRCm39) |
D1045Y |
probably damaging |
Het |
| Ctcf |
T |
C |
8: 106,390,765 (GRCm39) |
V124A |
probably damaging |
Het |
| Cutc |
T |
C |
19: 43,748,489 (GRCm39) |
S129P |
possibly damaging |
Het |
| Dhx36 |
T |
C |
3: 62,401,790 (GRCm39) |
I308V |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,621,230 (GRCm39) |
V654A |
probably damaging |
Het |
| Esm1 |
G |
A |
13: 113,346,283 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
C |
T |
4: 134,091,945 (GRCm39) |
V303I |
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,094,630 (GRCm39) |
D387E |
probably damaging |
Het |
| Fbxl12 |
T |
C |
9: 20,550,472 (GRCm39) |
H84R |
probably damaging |
Het |
| Fbxo6 |
C |
T |
4: 148,230,462 (GRCm39) |
V267I |
probably benign |
Het |
| Helz |
G |
T |
11: 107,493,167 (GRCm39) |
A197S |
possibly damaging |
Het |
| Ikbke |
T |
C |
1: 131,202,883 (GRCm39) |
|
probably null |
Het |
| Kbtbd13 |
A |
G |
9: 65,297,619 (GRCm39) |
F439S |
possibly damaging |
Het |
| Kif7 |
G |
A |
7: 79,351,934 (GRCm39) |
R943W |
probably damaging |
Het |
| Lrp12 |
C |
T |
15: 39,735,415 (GRCm39) |
C839Y |
probably damaging |
Het |
| Matr3 |
A |
G |
18: 35,717,894 (GRCm39) |
D364G |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,434,875 (GRCm39) |
K624E |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,166,820 (GRCm39) |
S280P |
possibly damaging |
Het |
| Or4a66 |
A |
T |
2: 88,531,011 (GRCm39) |
Y221N |
probably damaging |
Het |
| Or52a33 |
A |
C |
7: 103,288,889 (GRCm39) |
C153G |
probably benign |
Het |
| Pira2 |
A |
T |
7: 3,846,901 (GRCm39) |
S214T |
possibly damaging |
Het |
| Prss3b |
T |
C |
6: 41,009,306 (GRCm39) |
Y176C |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,700,853 (GRCm39) |
I30F |
probably benign |
Het |
| Rnf144a |
T |
C |
12: 26,360,779 (GRCm39) |
I253V |
possibly damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,373,302 (GRCm39) |
L823Q |
possibly damaging |
Het |
| Sh3rf3 |
A |
T |
10: 58,842,898 (GRCm39) |
D288V |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,054,485 (GRCm39) |
Y1031* |
probably null |
Het |
| Sidt1 |
T |
C |
16: 44,111,657 (GRCm39) |
T173A |
possibly damaging |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Ssh3 |
C |
T |
19: 4,315,399 (GRCm39) |
R309H |
probably benign |
Het |
| Tagap |
G |
T |
17: 8,152,893 (GRCm39) |
G693W |
probably damaging |
Het |
| Tango2 |
T |
A |
16: 18,119,403 (GRCm39) |
I143F |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,468,928 (GRCm39) |
H550R |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,920,423 (GRCm39) |
Q92H |
probably benign |
Het |
| Tnfrsf21 |
T |
C |
17: 43,327,979 (GRCm39) |
L31P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,730,487 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,926,268 (GRCm39) |
D493G |
probably damaging |
Het |
| Unc13a |
C |
T |
8: 72,090,453 (GRCm39) |
G1411D |
possibly damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Zfc3h1 |
A |
T |
10: 115,237,653 (GRCm39) |
R477S |
probably damaging |
Het |
| Zfp87 |
C |
T |
13: 67,664,986 (GRCm39) |
R492K |
probably benign |
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 |
|
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 |
|
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'- CCTGTTGGGCCTTTTGAAC -3'
(R):5'- AGCGTCAGTGCTGTTATTCC -3'
Sequencing Primer
(F):5'- TGGGCCTTTTGAACAGGAGAG -3'
(R):5'- GGCTAGCCTTGAACTTACAGCAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation