Incidental Mutation 'R4293:Fbf1'
| ID |
323180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbf1
|
| Ensembl Gene |
ENSMUSG00000020776 |
| Gene Name |
Fas binding factor 1 |
| Synonyms |
1110033G01Rik |
| MMRRC Submission |
041082-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4293 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116033111-116058992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116039720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 713
(L713P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103031]
[ENSMUST00000106435]
|
| AlphaFold |
A2A870 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103031
AA Change: L713P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099320
Gene: ENSMUSG00000020776
AA Change: L713P
| 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 damaging
Transcript: ENSMUST00000106435
AA Change: L713P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102043
Gene: ENSMUSG00000020776
AA Change: L713P
| 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
|
| Meta Mutation Damage Score |
0.1207 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
C |
19: 4,915,468 (GRCm39) |
E428G |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,732,211 (GRCm39) |
I1600T |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,697,713 (GRCm39) |
|
probably benign |
Het |
| Asgr2 |
C |
A |
11: 69,989,057 (GRCm39) |
T167K |
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
| Atpaf1 |
A |
T |
4: 115,645,556 (GRCm39) |
M142L |
probably benign |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,382,308 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,952,299 (GRCm39) |
D24G |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,300,993 (GRCm39) |
R2767G |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
| Ddx18 |
T |
C |
1: 121,489,121 (GRCm39) |
T309A |
probably benign |
Het |
| Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fnbp1 |
A |
G |
2: 30,995,362 (GRCm39) |
F24S |
probably damaging |
Het |
| Gm16686 |
A |
T |
4: 88,673,710 (GRCm39) |
|
probably benign |
Het |
| Gmps |
A |
G |
3: 63,898,040 (GRCm39) |
M275V |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,031,892 (GRCm39) |
|
probably null |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mettl18 |
A |
G |
1: 163,824,171 (GRCm39) |
D164G |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,051,453 (GRCm39) |
T349S |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,860,253 (GRCm39) |
M136T |
probably damaging |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Pik3c3 |
G |
A |
18: 30,477,043 (GRCm39) |
A855T |
probably damaging |
Het |
| Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,147,500 (GRCm39) |
D13E |
possibly damaging |
Het |
| Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
| Slc4a5 |
C |
T |
6: 83,237,511 (GRCm39) |
R165C |
probably damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,260 (GRCm39) |
|
noncoding transcript |
Het |
| Slfn9 |
T |
C |
11: 82,873,334 (GRCm39) |
N523S |
probably benign |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,848,693 (GRCm39) |
T49A |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,084,318 (GRCm39) |
I954V |
probably benign |
Het |
| Tmem237 |
A |
G |
1: 59,158,995 (GRCm39) |
|
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,636,996 (GRCm39) |
T693A |
probably benign |
Het |
| Xpr1 |
A |
G |
1: 155,188,542 (GRCm39) |
F366S |
possibly damaging |
Het |
| Zfp317 |
A |
G |
9: 19,557,990 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTACTGTCTGCCAACCAGC -3'
(R):5'- AGGATGCACATAGGTACCCG -3'
Sequencing Primer
(F):5'- TCTGCCAACCAGCCCTCAC -3'
(R):5'- ACATAGGTACCCGCTGGCTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation