Incidental Mutation 'R3731:Fbxo38'
ID |
271014 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo38
|
Ensembl Gene |
ENSMUSG00000042211 |
Gene Name |
F-box protein 38 |
Synonyms |
SP329, 6030410I24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3731 (G1)
|
Quality Score |
101 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
62637226-62681766 bp(-) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
GTGCTGCTGCTGCTGCTGCTGC to GTGCTGCTGCTGCTGCTGC
at 62648399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047541
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048688]
|
AlphaFold |
Q8BMI0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048688
|
SMART Domains |
Protein: ENSMUSP00000047541 Gene: ENSMUSG00000042211
Domain | Start | End | E-Value | Type |
Pfam:F-box
|
29 |
66 |
2.6e-5 |
PFAM |
SCOP:d1fqva2
|
127 |
357 |
6e-4 |
SMART |
low complexity region
|
493 |
525 |
N/A |
INTRINSIC |
low complexity region
|
598 |
610 |
N/A |
INTRINSIC |
low complexity region
|
705 |
728 |
N/A |
INTRINSIC |
low complexity region
|
736 |
753 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630010A05Rik |
T |
A |
16: 14,427,485 (GRCm39) |
|
probably null |
Het |
Abcc5 |
A |
T |
16: 20,217,684 (GRCm39) |
Y5* |
probably null |
Het |
Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
Adar |
T |
C |
3: 89,653,962 (GRCm39) |
I325T |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,261,125 (GRCm39) |
S92P |
probably benign |
Het |
Atp1a4 |
A |
T |
1: 172,061,528 (GRCm39) |
V771E |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,047,708 (GRCm39) |
S492P |
possibly damaging |
Het |
Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
Dennd2d |
T |
G |
3: 106,407,271 (GRCm39) |
F441V |
probably damaging |
Het |
Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
Disp3 |
A |
G |
4: 148,337,284 (GRCm39) |
S844P |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,599,722 (GRCm39) |
K286E |
probably damaging |
Het |
Fam228a |
T |
C |
12: 4,768,671 (GRCm39) |
E203G |
probably benign |
Het |
Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
Hrob |
A |
G |
11: 102,148,732 (GRCm39) |
E381G |
possibly damaging |
Het |
Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
Ints4 |
A |
G |
7: 97,155,308 (GRCm39) |
Q320R |
probably benign |
Het |
Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
Loxl3 |
T |
C |
6: 83,027,652 (GRCm39) |
|
probably null |
Het |
Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
Mbd6 |
A |
G |
10: 127,121,637 (GRCm39) |
|
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Nepn |
A |
T |
10: 52,280,110 (GRCm39) |
N401Y |
probably damaging |
Het |
Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
Npas3 |
T |
C |
12: 53,401,175 (GRCm39) |
I40T |
probably benign |
Het |
Or1e29 |
T |
C |
11: 73,667,565 (GRCm39) |
E196G |
probably benign |
Het |
Or1j19 |
A |
T |
2: 36,676,578 (GRCm39) |
I14F |
possibly damaging |
Het |
Or2d4 |
T |
A |
7: 106,543,684 (GRCm39) |
N175Y |
probably damaging |
Het |
Or4n4b |
T |
A |
14: 50,535,962 (GRCm39) |
D268V |
probably damaging |
Het |
Or5p73 |
T |
C |
7: 108,064,633 (GRCm39) |
I34T |
possibly damaging |
Het |
Or8g33 |
T |
A |
9: 39,338,365 (GRCm39) |
M1L |
probably benign |
Het |
Phtf1 |
A |
G |
3: 103,893,095 (GRCm39) |
M120V |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,471,193 (GRCm39) |
Y988C |
probably benign |
Het |
Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
Ripor3 |
C |
G |
2: 167,834,739 (GRCm39) |
E251Q |
probably damaging |
Het |
Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
Serpina1d |
T |
A |
12: 103,734,164 (GRCm39) |
N47Y |
possibly damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Sirpb1c |
T |
C |
3: 15,887,287 (GRCm39) |
K184R |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Upp2 |
T |
C |
2: 58,645,379 (GRCm39) |
S41P |
probably benign |
Het |
Vmn1r10 |
A |
G |
6: 57,090,719 (GRCm39) |
T104A |
probably damaging |
Het |
Wdhd1 |
A |
C |
14: 47,485,349 (GRCm39) |
S838R |
possibly damaging |
Het |
Zer1 |
A |
G |
2: 30,000,923 (GRCm39) |
V166A |
probably benign |
Het |
Zfp217 |
T |
C |
2: 169,956,308 (GRCm39) |
N897D |
probably benign |
Het |
Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
probably damaging |
Het |
|
Other mutations in Fbxo38 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00911:Fbxo38
|
APN |
18 |
62,663,871 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01384:Fbxo38
|
APN |
18 |
62,655,487 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01443:Fbxo38
|
APN |
18 |
62,666,741 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01515:Fbxo38
|
APN |
18 |
62,651,642 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01621:Fbxo38
|
APN |
18 |
62,655,595 (GRCm39) |
splice site |
probably benign |
|
IGL01975:Fbxo38
|
APN |
18 |
62,648,484 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02148:Fbxo38
|
APN |
18 |
62,669,298 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02390:Fbxo38
|
APN |
18 |
62,666,660 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03040:Fbxo38
|
APN |
18 |
62,660,323 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03088:Fbxo38
|
APN |
18 |
62,655,543 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03290:Fbxo38
|
APN |
18 |
62,659,234 (GRCm39) |
missense |
probably benign |
0.08 |
FR4976:Fbxo38
|
UTSW |
18 |
62,648,418 (GRCm39) |
small deletion |
probably benign |
|
R0526:Fbxo38
|
UTSW |
18 |
62,639,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R0529:Fbxo38
|
UTSW |
18 |
62,639,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R0789:Fbxo38
|
UTSW |
18 |
62,648,570 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1232:Fbxo38
|
UTSW |
18 |
62,643,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R1857:Fbxo38
|
UTSW |
18 |
62,648,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R1859:Fbxo38
|
UTSW |
18 |
62,648,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R1872:Fbxo38
|
UTSW |
18 |
62,650,094 (GRCm39) |
missense |
probably benign |
0.01 |
R2114:Fbxo38
|
UTSW |
18 |
62,639,711 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2910:Fbxo38
|
UTSW |
18 |
62,652,878 (GRCm39) |
missense |
probably benign |
0.01 |
R2911:Fbxo38
|
UTSW |
18 |
62,652,878 (GRCm39) |
missense |
probably benign |
0.01 |
R3406:Fbxo38
|
UTSW |
18 |
62,647,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R3792:Fbxo38
|
UTSW |
18 |
62,666,533 (GRCm39) |
splice site |
probably null |
|
R3848:Fbxo38
|
UTSW |
18 |
62,648,144 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3948:Fbxo38
|
UTSW |
18 |
62,662,615 (GRCm39) |
splice site |
probably benign |
|
R4151:Fbxo38
|
UTSW |
18 |
62,648,399 (GRCm39) |
small deletion |
probably benign |
|
R4323:Fbxo38
|
UTSW |
18 |
62,648,232 (GRCm39) |
missense |
probably benign |
|
R4456:Fbxo38
|
UTSW |
18 |
62,659,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R4786:Fbxo38
|
UTSW |
18 |
62,662,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R4829:Fbxo38
|
UTSW |
18 |
62,651,662 (GRCm39) |
missense |
probably benign |
|
R4959:Fbxo38
|
UTSW |
18 |
62,655,578 (GRCm39) |
missense |
probably benign |
0.45 |
R5274:Fbxo38
|
UTSW |
18 |
62,648,140 (GRCm39) |
missense |
probably damaging |
0.98 |
R5288:Fbxo38
|
UTSW |
18 |
62,674,042 (GRCm39) |
missense |
probably benign |
|
R5384:Fbxo38
|
UTSW |
18 |
62,674,042 (GRCm39) |
missense |
probably benign |
|
R5385:Fbxo38
|
UTSW |
18 |
62,674,042 (GRCm39) |
missense |
probably benign |
|
R5448:Fbxo38
|
UTSW |
18 |
62,655,528 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5540:Fbxo38
|
UTSW |
18 |
62,647,864 (GRCm39) |
critical splice donor site |
probably null |
|
R5588:Fbxo38
|
UTSW |
18 |
62,659,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R5617:Fbxo38
|
UTSW |
18 |
62,639,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R5636:Fbxo38
|
UTSW |
18 |
62,644,089 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5769:Fbxo38
|
UTSW |
18 |
62,648,036 (GRCm39) |
missense |
probably benign |
0.10 |
R6254:Fbxo38
|
UTSW |
18 |
62,638,571 (GRCm39) |
splice site |
probably null |
|
R6315:Fbxo38
|
UTSW |
18 |
62,669,218 (GRCm39) |
nonsense |
probably null |
|
R6517:Fbxo38
|
UTSW |
18 |
62,666,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R6673:Fbxo38
|
UTSW |
18 |
62,666,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R6974:Fbxo38
|
UTSW |
18 |
62,639,740 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7022:Fbxo38
|
UTSW |
18 |
62,669,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R7175:Fbxo38
|
UTSW |
18 |
62,648,544 (GRCm39) |
missense |
probably benign |
0.11 |
R8013:Fbxo38
|
UTSW |
18 |
62,663,882 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8815:Fbxo38
|
UTSW |
18 |
62,666,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R8885:Fbxo38
|
UTSW |
18 |
62,659,272 (GRCm39) |
missense |
probably damaging |
0.99 |
R9240:Fbxo38
|
UTSW |
18 |
62,651,632 (GRCm39) |
nonsense |
probably null |
|
R9427:Fbxo38
|
UTSW |
18 |
62,644,160 (GRCm39) |
missense |
probably benign |
0.00 |
R9750:Fbxo38
|
UTSW |
18 |
62,674,061 (GRCm39) |
missense |
probably benign |
0.14 |
R9796:Fbxo38
|
UTSW |
18 |
62,674,055 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1177:Fbxo38
|
UTSW |
18 |
62,648,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCCTTTGAGACTCCTGGG -3'
(R):5'- CAAGACTCCACTTCGAAAGAGG -3'
Sequencing Primer
(F):5'- CTGAGACAGCAGCATCTGG -3'
(R):5'- CTTCGAAAGAGGTGCAACAAC -3'
|
Posted On |
2015-03-18 |