Incidental Mutation 'IGL01420:Fbf1'
| ID |
80374 |
| 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 # |
IGL01420
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116033111-116058992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116036822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 971
(T971A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103031]
[ENSMUST00000106435]
|
| AlphaFold |
A2A870 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103031
AA Change: T971A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099320
Gene: ENSMUSG00000020776
AA Change: T971A
| 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: T971A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102043
Gene: ENSMUSG00000020776
AA Change: T971A
| 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 |
noncoding transcript
Transcript: ENSMUST00000125980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136318
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,920,637 (GRCm39) |
|
probably benign |
Het |
| Actr6 |
A |
T |
10: 89,561,027 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,850,916 (GRCm39) |
M541K |
possibly damaging |
Het |
| Adgre4 |
T |
C |
17: 56,106,785 (GRCm39) |
|
probably benign |
Het |
| Anxa6 |
T |
C |
11: 54,883,189 (GRCm39) |
Y481C |
probably damaging |
Het |
| Apbb1ip |
A |
T |
2: 22,748,292 (GRCm39) |
I371F |
possibly damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,297,649 (GRCm39) |
D261G |
probably damaging |
Het |
| Bche |
T |
C |
3: 73,609,342 (GRCm39) |
H28R |
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,104,065 (GRCm39) |
V2026A |
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,773,595 (GRCm39) |
V1697I |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,301,079 (GRCm39) |
H2738R |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,718,389 (GRCm39) |
|
probably null |
Het |
| Cep152 |
A |
T |
2: 125,405,572 (GRCm39) |
D1653E |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,470,137 (GRCm39) |
I248F |
probably benign |
Het |
| Clcnka |
C |
A |
4: 141,116,643 (GRCm39) |
R536L |
probably benign |
Het |
| Dao |
T |
A |
5: 114,161,881 (GRCm39) |
|
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,175,367 (GRCm39) |
S585P |
possibly damaging |
Het |
| Dysf |
C |
T |
6: 84,126,741 (GRCm39) |
Q1333* |
probably null |
Het |
| Eps8l2 |
T |
A |
7: 140,937,576 (GRCm39) |
S397T |
probably benign |
Het |
| Fap |
A |
G |
2: 62,334,846 (GRCm39) |
|
probably benign |
Het |
| Fbxl17 |
C |
T |
17: 63,692,047 (GRCm39) |
V22M |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,839,558 (GRCm39) |
M457K |
probably benign |
Het |
| Fundc2 |
T |
C |
X: 74,434,471 (GRCm39) |
|
probably benign |
Het |
| Heyl |
C |
A |
4: 123,133,967 (GRCm39) |
Q42K |
probably damaging |
Het |
| Hyal4 |
A |
G |
6: 24,755,871 (GRCm39) |
K30E |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,071 (GRCm39) |
I2201V |
probably benign |
Het |
| Il34 |
T |
C |
8: 111,469,345 (GRCm39) |
K157E |
probably damaging |
Het |
| Kcnj13 |
T |
C |
1: 87,316,766 (GRCm39) |
T116A |
probably damaging |
Het |
| Lpl |
T |
C |
8: 69,340,085 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
A |
G |
1: 128,273,612 (GRCm39) |
L406P |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,960,027 (GRCm39) |
R328H |
probably damaging |
Het |
| Nadk2 |
T |
C |
15: 9,103,072 (GRCm39) |
S308P |
probably damaging |
Het |
| Nae1 |
G |
T |
8: 105,249,797 (GRCm39) |
Q225K |
probably benign |
Het |
| Ncoa6 |
G |
A |
2: 155,249,507 (GRCm39) |
P1266S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,047,389 (GRCm39) |
Y6485H |
probably damaging |
Het |
| Nin |
G |
A |
12: 70,092,188 (GRCm39) |
A707V |
probably benign |
Het |
| Nmur1 |
T |
C |
1: 86,315,113 (GRCm39) |
T218A |
probably benign |
Het |
| Npr3 |
T |
C |
15: 11,858,718 (GRCm39) |
N135D |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,620,926 (GRCm39) |
L142Q |
probably damaging |
Het |
| Pdgfc |
T |
A |
3: 81,048,750 (GRCm39) |
S53T |
probably benign |
Het |
| Plxdc2 |
T |
A |
2: 16,654,950 (GRCm39) |
V232D |
probably damaging |
Het |
| Pou2f2 |
T |
C |
7: 24,792,377 (GRCm39) |
N493D |
possibly damaging |
Het |
| Rtel1 |
T |
C |
2: 180,996,194 (GRCm39) |
I750T |
probably benign |
Het |
| Sbk1 |
A |
G |
7: 125,891,184 (GRCm39) |
|
probably null |
Het |
| Sec24d |
A |
G |
3: 123,143,658 (GRCm39) |
N603S |
probably benign |
Het |
| Slc38a10 |
T |
A |
11: 119,997,286 (GRCm39) |
E736V |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,341,659 (GRCm39) |
Y559C |
probably benign |
Het |
| Sprr4 |
A |
T |
3: 92,407,691 (GRCm39) |
V37E |
unknown |
Het |
| Sptbn2 |
A |
G |
19: 4,784,153 (GRCm39) |
T632A |
probably benign |
Het |
| Trim31 |
A |
G |
17: 37,209,303 (GRCm39) |
M20V |
probably benign |
Het |
| Trim65 |
C |
A |
11: 116,017,335 (GRCm39) |
V376L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,542,420 (GRCm39) |
D25195G |
probably damaging |
Het |
| Tysnd1 |
A |
G |
10: 61,537,830 (GRCm39) |
T503A |
possibly damaging |
Het |
| Vtn |
A |
T |
11: 78,390,200 (GRCm39) |
I9L |
probably benign |
Het |
| Zfp398 |
A |
G |
6: 47,842,868 (GRCm39) |
M175V |
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 |
|
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 |
|
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 |
2013-11-05 |
Incidental Mutation