Incidental Mutation 'R0637:Fbf1'
| ID |
56771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbf1
|
| Ensembl Gene |
ENSMUSG00000020776 |
| Gene Name |
Fas binding factor 1 |
| Synonyms |
1110033G01Rik |
| MMRRC Submission |
038826-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0637 (G1)
|
| Quality Score |
171 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116033111-116058992 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 116050880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103031]
[ENSMUST00000106435]
[ENSMUST00000124828]
[ENSMUST00000139020]
|
| AlphaFold |
A2A870 |
| Predicted Effect |
probably benign
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 benign
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: ENSMUST00000131521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196783
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 94.9%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
C |
T |
9: 53,498,831 (GRCm39) |
D285N |
probably damaging |
Het |
| Aldh3a1 |
G |
A |
11: 61,106,304 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,600,015 (GRCm39) |
T2083A |
possibly damaging |
Het |
| Atrip |
C |
T |
9: 108,890,241 (GRCm39) |
M143I |
possibly damaging |
Het |
| Aup1 |
T |
A |
6: 83,033,842 (GRCm39) |
V344D |
probably damaging |
Het |
| Baiap2 |
G |
A |
11: 119,891,405 (GRCm39) |
V511M |
probably benign |
Het |
| Bnip2 |
T |
A |
9: 69,910,955 (GRCm39) |
|
probably null |
Het |
| Cacna1i |
A |
T |
15: 80,256,855 (GRCm39) |
Y1083F |
probably damaging |
Het |
| Cbr4 |
T |
C |
8: 61,943,740 (GRCm39) |
|
probably benign |
Het |
| Ces2b |
C |
T |
8: 105,561,237 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,962,550 (GRCm39) |
N769S |
possibly damaging |
Het |
| Clca3b |
A |
T |
3: 144,533,701 (GRCm39) |
V558D |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,564,017 (GRCm39) |
D1736G |
probably benign |
Het |
| Cpne8 |
C |
A |
15: 90,532,824 (GRCm39) |
C61F |
probably damaging |
Het |
| Cxcr1 |
A |
G |
1: 74,231,998 (GRCm39) |
I8T |
probably benign |
Het |
| D630003M21Rik |
T |
G |
2: 158,037,327 (GRCm39) |
|
probably benign |
Het |
| Dcaf17 |
T |
A |
2: 70,890,763 (GRCm39) |
D99E |
probably damaging |
Het |
| Fgfr2 |
T |
A |
7: 129,773,354 (GRCm39) |
H570L |
possibly damaging |
Het |
| Gars1 |
G |
A |
6: 55,046,472 (GRCm39) |
|
probably null |
Het |
| Gm10309 |
A |
G |
17: 86,806,463 (GRCm39) |
|
probably benign |
Het |
| Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9892 |
G |
A |
8: 52,649,860 (GRCm39) |
Q78* |
probably null |
Het |
| Has1 |
A |
G |
17: 18,064,125 (GRCm39) |
Y505H |
possibly damaging |
Het |
| Hivep3 |
T |
A |
4: 119,989,738 (GRCm39) |
L2063* |
probably null |
Het |
| Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
T |
C |
11: 104,549,702 (GRCm39) |
V614A |
probably benign |
Het |
| Lrrc23 |
A |
G |
6: 124,755,321 (GRCm39) |
|
probably benign |
Het |
| Lrrc63 |
A |
T |
14: 75,335,660 (GRCm39) |
|
probably benign |
Het |
| Mfhas1 |
C |
T |
8: 36,057,180 (GRCm39) |
R357* |
probably null |
Het |
| Mink1 |
C |
A |
11: 70,492,502 (GRCm39) |
N123K |
probably damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,501,890 (GRCm39) |
H591R |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,606,058 (GRCm39) |
T923A |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,844,666 (GRCm39) |
T554A |
probably damaging |
Het |
| Nfe2l1 |
T |
C |
11: 96,718,514 (GRCm39) |
Y7C |
probably damaging |
Het |
| Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,942,470 (GRCm39) |
M4904K |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,973,602 (GRCm39) |
L1910I |
probably damaging |
Het |
| Or8b41 |
T |
C |
9: 38,055,178 (GRCm39) |
F244S |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,619 (GRCm39) |
V617E |
probably damaging |
Het |
| Pelp1 |
T |
C |
11: 70,286,530 (GRCm39) |
T533A |
possibly damaging |
Het |
| Pgrmc1 |
T |
C |
X: 35,865,924 (GRCm39) |
F160S |
probably damaging |
Het |
| Pink1 |
G |
T |
4: 138,045,357 (GRCm39) |
P239Q |
probably damaging |
Het |
| Pramel25 |
A |
T |
4: 143,520,479 (GRCm39) |
Y77F |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,999,005 (GRCm39) |
|
probably benign |
Het |
| Rbpms |
G |
A |
8: 34,296,864 (GRCm39) |
P138S |
probably damaging |
Het |
| Rcc2 |
T |
C |
4: 140,445,055 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
C |
4: 62,564,910 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
C |
T |
16: 72,798,839 (GRCm39) |
T933M |
probably benign |
Het |
| Sinhcaf |
A |
G |
6: 148,832,163 (GRCm39) |
|
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,028,398 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,689,560 (GRCm39) |
Y2009C |
probably damaging |
Het |
| Tnr |
A |
C |
1: 159,677,905 (GRCm39) |
T97P |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,620,542 (GRCm39) |
L1320* |
probably null |
Het |
| Topaz1 |
A |
G |
9: 122,626,727 (GRCm39) |
M1452V |
probably benign |
Het |
| Trank1 |
T |
G |
9: 111,219,509 (GRCm39) |
F2082C |
probably damaging |
Het |
| Trim24 |
C |
A |
6: 37,935,494 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
T |
A |
11: 87,668,066 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,126,926 (GRCm39) |
L483P |
probably damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,033,999 (GRCm39) |
T508S |
probably benign |
Het |
| Vps18 |
C |
T |
2: 119,124,386 (GRCm39) |
R438C |
probably damaging |
Het |
| Zfp366 |
C |
A |
13: 99,365,474 (GRCm39) |
R212S |
probably damaging |
Het |
| Zkscan4 |
T |
A |
13: 21,665,477 (GRCm39) |
C122S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGTGAATCAgcaatccctgttc -3'
(R):5'- tcccttggcctcCATAATTCCTCAG -3'
Sequencing Primer
(F):5'- tgttcttgtctggggctg -3'
(R):5'- gtgtgtcttccttcctttcttg -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation