Incidental Mutation 'R5274:Fbxo38'
| ID |
403854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo38
|
| Ensembl Gene |
ENSMUSG00000042211 |
| Gene Name |
F-box protein 38 |
| Synonyms |
SP329, 6030410I24Rik |
| MMRRC Submission |
042837-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5274 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
62637226-62681766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62648140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 799
(D799E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048688]
|
| AlphaFold |
Q8BMI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048688
AA Change: D799E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: D799E
| 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: 99.5%
- 3x: 98.9%
- 10x: 98.0%
- 20x: 96.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,092,856 (GRCm39) |
R155H |
probably benign |
Het |
| Ace |
T |
C |
11: 105,858,863 (GRCm39) |
M19T |
probably benign |
Het |
| Agl |
A |
G |
3: 116,566,135 (GRCm39) |
L995P |
probably damaging |
Het |
| AY761185 |
T |
C |
8: 21,433,889 (GRCm39) |
N90S |
unknown |
Het |
| Brca2 |
T |
C |
5: 150,463,154 (GRCm39) |
S973P |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,576,250 (GRCm39) |
T66A |
probably damaging |
Het |
| Cbarp |
T |
C |
10: 79,967,649 (GRCm39) |
S531G |
possibly damaging |
Het |
| Cby2 |
A |
G |
14: 75,820,666 (GRCm39) |
V362A |
probably benign |
Het |
| Cd96 |
G |
T |
16: 45,890,066 (GRCm39) |
T319K |
possibly damaging |
Het |
| Ceacam23 |
T |
C |
7: 17,649,642 (GRCm39) |
|
probably null |
Het |
| Chil5 |
A |
C |
3: 105,936,169 (GRCm39) |
F41C |
probably damaging |
Het |
| Col24a1 |
A |
C |
3: 145,190,433 (GRCm39) |
E1239D |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,109,985 (GRCm39) |
E1490G |
possibly damaging |
Het |
| Dync1li1 |
T |
C |
9: 114,544,273 (GRCm39) |
V315A |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,116,540 (GRCm39) |
S99G |
probably benign |
Het |
| Dynlt5 |
A |
T |
4: 102,859,768 (GRCm39) |
T103S |
possibly damaging |
Het |
| E2f8 |
C |
T |
7: 48,516,925 (GRCm39) |
R818H |
probably damaging |
Het |
| Eomes |
T |
C |
9: 118,309,597 (GRCm39) |
V250A |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,200,350 (GRCm39) |
T615A |
probably benign |
Het |
| Fdft1 |
A |
G |
14: 63,389,792 (GRCm39) |
F288S |
probably damaging |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Gm4871 |
C |
G |
5: 144,967,180 (GRCm39) |
E185Q |
probably damaging |
Het |
| Gm5901 |
C |
A |
7: 105,026,655 (GRCm39) |
P141Q |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,306,691 (GRCm39) |
I933N |
probably benign |
Het |
| Ifih1 |
T |
C |
2: 62,442,062 (GRCm39) |
Q385R |
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,315,518 (GRCm39) |
E634G |
probably damaging |
Het |
| Klk6 |
C |
G |
7: 43,478,553 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
G |
15: 98,752,111 (GRCm39) |
|
probably benign |
Het |
| Lig3 |
T |
A |
11: 82,688,118 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,234,456 (GRCm39) |
D310G |
probably null |
Het |
| Mroh6 |
A |
G |
15: 75,756,849 (GRCm39) |
V571A |
possibly damaging |
Het |
| Olfm5 |
A |
G |
7: 103,809,190 (GRCm39) |
S132P |
probably damaging |
Het |
| Or52n20 |
T |
C |
7: 104,320,733 (GRCm39) |
S275P |
probably damaging |
Het |
| Or5p64 |
A |
T |
7: 107,854,842 (GRCm39) |
F168I |
probably benign |
Het |
| Pacc1 |
T |
C |
1: 191,080,665 (GRCm39) |
V295A |
probably damaging |
Het |
| Patj |
G |
C |
4: 98,407,218 (GRCm39) |
S4T |
probably damaging |
Het |
| Pcdhga12 |
T |
A |
18: 37,899,475 (GRCm39) |
C102* |
probably null |
Het |
| Pik3ap1 |
T |
C |
19: 41,270,391 (GRCm39) |
D766G |
possibly damaging |
Het |
| Plch2 |
A |
T |
4: 155,083,411 (GRCm39) |
L408Q |
probably damaging |
Het |
| Pnma2 |
G |
T |
14: 67,154,209 (GRCm39) |
R211L |
probably damaging |
Het |
| Prkg2 |
T |
A |
5: 99,117,850 (GRCm39) |
H468L |
probably damaging |
Het |
| Rad1 |
T |
A |
15: 10,488,059 (GRCm39) |
|
probably null |
Het |
| Rims3 |
A |
G |
4: 120,748,571 (GRCm39) |
D264G |
probably damaging |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rrm2 |
T |
A |
12: 24,760,406 (GRCm39) |
Y75* |
probably null |
Het |
| Sall3 |
T |
C |
18: 81,013,052 (GRCm39) |
N1128S |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,018,899 (GRCm39) |
T610A |
possibly damaging |
Het |
| Snx29 |
G |
T |
16: 11,556,268 (GRCm39) |
E766D |
probably damaging |
Het |
| Sox17 |
A |
G |
1: 4,562,111 (GRCm39) |
V298A |
possibly damaging |
Het |
| Ss18 |
G |
A |
18: 14,774,106 (GRCm39) |
Q228* |
probably null |
Het |
| Tas2r121 |
A |
G |
6: 132,677,811 (GRCm39) |
S54P |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,066,627 (GRCm39) |
E342G |
possibly damaging |
Het |
| Ubap2l |
A |
G |
3: 89,920,037 (GRCm39) |
Y818H |
probably damaging |
Het |
| Usp15 |
C |
A |
10: 123,004,256 (GRCm39) |
R166I |
probably damaging |
Het |
| Vmn1r34 |
T |
G |
6: 66,614,123 (GRCm39) |
H205P |
probably damaging |
Het |
| Vmn2r22 |
A |
T |
6: 123,627,593 (GRCm39) |
M1K |
probably null |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zdhhc1 |
T |
C |
8: 106,210,402 (GRCm39) |
N5S |
probably benign |
Het |
| Zfp758 |
T |
A |
17: 22,594,836 (GRCm39) |
C441S |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,737,315 (GRCm39) |
E291G |
possibly 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 |
|
R3731:Fbxo38
|
UTSW |
18 |
62,648,399 (GRCm39) |
small deletion |
probably benign |
|
|
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 |
|
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'- TAGACTGCACGTCACAACTCTC -3'
(R):5'- GACTTTGCAAGGACGGTGAC -3'
Sequencing Primer
(F):5'- ACGTCACAACTCTCAGGCTGG -3'
(R):5'- AGGACGGTGACCAGCAGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation