Incidental Mutation 'IGL01995:Fbf1'
| ID |
183671 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbf1
|
| Ensembl Gene |
ENSMUSG00000020776 |
| Gene Name |
Fas binding factor 1 |
| Synonyms |
1110033G01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01995
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116033111-116058992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116041846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 565
(R565S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103031]
[ENSMUST00000106435]
[ENSMUST00000124828]
|
| AlphaFold |
A2A870 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000103031
AA Change: R565S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099320
Gene: ENSMUSG00000020776
AA Change: R565S
| 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: R565S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102043
Gene: ENSMUSG00000020776
AA Change: R565S
| 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: ENSMUST00000126861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150703
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
C |
14: 44,401,302 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
C |
A |
17: 47,779,442 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
G |
A |
3: 121,807,977 (GRCm39) |
V1052I |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,577,862 (GRCm39) |
S1029P |
probably benign |
Het |
| Arpc5l |
T |
C |
2: 38,898,226 (GRCm39) |
S7P |
probably damaging |
Het |
| Asf1b |
A |
G |
8: 84,682,533 (GRCm39) |
I26V |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,697,197 (GRCm39) |
L240P |
probably damaging |
Het |
| Cnmd |
A |
G |
14: 79,879,508 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,180,846 (GRCm39) |
N783I |
probably damaging |
Het |
| Col6a2 |
C |
A |
10: 76,440,676 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
T |
C |
4: 120,907,607 (GRCm39) |
|
probably null |
Het |
| Cry2 |
T |
C |
2: 92,254,977 (GRCm39) |
E126G |
probably benign |
Het |
| Cxcl15 |
T |
C |
5: 90,942,467 (GRCm39) |
V13A |
possibly damaging |
Het |
| Dbr1 |
A |
G |
9: 99,465,952 (GRCm39) |
D510G |
probably benign |
Het |
| Dct |
A |
G |
14: 118,271,655 (GRCm39) |
F392L |
probably damaging |
Het |
| Dgkz |
A |
G |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
| Dhrs7b |
A |
G |
11: 60,721,541 (GRCm39) |
I2V |
probably benign |
Het |
| Efnb3 |
A |
T |
11: 69,447,730 (GRCm39) |
|
probably null |
Het |
| Gimap5 |
T |
C |
6: 48,729,727 (GRCm39) |
I99T |
probably damaging |
Het |
| Gm9912 |
A |
G |
3: 148,891,085 (GRCm39) |
L16P |
unknown |
Het |
| Gpr17 |
A |
G |
18: 32,080,187 (GRCm39) |
L292P |
probably damaging |
Het |
| Hdac10 |
C |
T |
15: 89,011,801 (GRCm39) |
V129M |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,124,498 (GRCm39) |
I247V |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,537,457 (GRCm39) |
S86R |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,085,890 (GRCm39) |
S55P |
possibly damaging |
Het |
| Nol6 |
A |
T |
4: 41,118,567 (GRCm39) |
C745S |
probably damaging |
Het |
| Nudt13 |
A |
T |
14: 20,356,385 (GRCm39) |
E103D |
probably damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,405,806 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,261 (GRCm39) |
I19T |
possibly damaging |
Het |
| Pdzk1 |
G |
T |
3: 96,764,687 (GRCm39) |
A324S |
probably benign |
Het |
| Pofut2 |
T |
C |
10: 77,096,515 (GRCm39) |
V80A |
possibly damaging |
Het |
| Rasip1 |
A |
G |
7: 45,286,240 (GRCm39) |
D821G |
probably damaging |
Het |
| Rnf10 |
T |
A |
5: 115,389,161 (GRCm39) |
K273* |
probably null |
Het |
| Slc4a9 |
A |
G |
18: 36,672,828 (GRCm39) |
M811V |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,751,015 (GRCm39) |
D301G |
probably damaging |
Het |
| Tm9sf2 |
A |
T |
14: 122,380,883 (GRCm39) |
T159S |
probably benign |
Het |
| Tom1l1 |
G |
A |
11: 90,540,687 (GRCm39) |
P327S |
probably damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,689 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
A |
C |
19: 18,807,691 (GRCm39) |
|
probably benign |
Het |
| Ttc13 |
A |
C |
8: 125,415,621 (GRCm39) |
L245R |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,713,118 (GRCm39) |
V60E |
probably damaging |
Het |
| Ung |
T |
A |
5: 114,274,447 (GRCm39) |
D173E |
probably benign |
Het |
| Zbtb5 |
A |
G |
4: 44,995,294 (GRCm39) |
V30A |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation