Incidental Mutation 'R3406:Fbxo38'
| ID |
259412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo38
|
| Ensembl Gene |
ENSMUSG00000042211 |
| Gene Name |
F-box protein 38 |
| Synonyms |
SP329, 6030410I24Rik |
| MMRRC Submission |
040624-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3406 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
62637226-62681766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62647914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 875
(T875A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048688]
|
| AlphaFold |
Q8BMI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048688
AA Change: T875A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: T875A
| 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 |
|
| Meta Mutation Damage Score |
0.1215 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,859,338 (GRCm39) |
M1K |
probably null |
Het |
| Adam34l |
A |
T |
8: 44,079,089 (GRCm39) |
C378* |
probably null |
Het |
| Bdkrb2 |
T |
C |
12: 105,558,755 (GRCm39) |
V332A |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
| Chd4 |
C |
A |
6: 125,098,970 (GRCm39) |
T1586K |
probably benign |
Het |
| Cnga3 |
A |
G |
1: 37,301,146 (GRCm39) |
E622G |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,064,977 (GRCm39) |
D396G |
possibly damaging |
Het |
| Dhodh |
G |
A |
8: 110,330,107 (GRCm39) |
R86* |
probably null |
Het |
| Dpt |
A |
C |
1: 164,624,500 (GRCm39) |
E67A |
probably damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,166,068 (GRCm39) |
|
probably benign |
Het |
| Esp4 |
T |
A |
17: 40,913,336 (GRCm39) |
L68M |
possibly damaging |
Het |
| Exo1 |
A |
G |
1: 175,733,536 (GRCm39) |
K787E |
possibly damaging |
Het |
| Gsdma |
T |
C |
11: 98,563,964 (GRCm39) |
|
probably benign |
Het |
| Hemk1 |
G |
A |
9: 107,214,415 (GRCm39) |
Q6* |
probably null |
Het |
| Hmcn2 |
C |
T |
2: 31,323,284 (GRCm39) |
|
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,720,613 (GRCm39) |
|
probably benign |
Het |
| Irx3 |
A |
G |
8: 92,525,555 (GRCm39) |
S507P |
unknown |
Het |
| Kazn |
C |
A |
4: 141,966,506 (GRCm39) |
|
probably benign |
Het |
| Kcne4 |
C |
T |
1: 78,795,688 (GRCm39) |
A112V |
possibly damaging |
Het |
| Lamb1 |
C |
T |
12: 31,337,528 (GRCm39) |
R372C |
probably damaging |
Het |
| Lrrc30 |
A |
G |
17: 67,939,175 (GRCm39) |
L135P |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,809,815 (GRCm39) |
M495K |
possibly damaging |
Het |
| Mab21l3 |
C |
A |
3: 101,730,847 (GRCm39) |
V131F |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,309,204 (GRCm39) |
T416S |
probably benign |
Het |
| Mlst8 |
A |
T |
17: 24,697,099 (GRCm39) |
M56K |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,310 (GRCm39) |
Y160C |
probably damaging |
Het |
| Mslnl |
A |
G |
17: 25,965,155 (GRCm39) |
Y507C |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myl12a |
A |
T |
17: 71,301,737 (GRCm39) |
M130K |
probably benign |
Het |
| Nalf2 |
A |
G |
X: 98,889,109 (GRCm39) |
I325V |
probably benign |
Het |
| Ncdn |
C |
T |
4: 126,642,388 (GRCm39) |
R423Q |
probably benign |
Het |
| Ncf2 |
A |
G |
1: 152,701,698 (GRCm39) |
|
probably benign |
Het |
| Nek8 |
G |
T |
11: 78,061,572 (GRCm39) |
S319* |
probably null |
Het |
| Or11g7 |
G |
A |
14: 50,690,653 (GRCm39) |
C48Y |
probably benign |
Het |
| Or52m2 |
T |
C |
7: 102,263,993 (GRCm39) |
M68V |
possibly damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,442 (GRCm39) |
A558E |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,978,526 (GRCm39) |
W431R |
probably damaging |
Het |
| Rbfox3 |
T |
A |
11: 118,387,283 (GRCm39) |
Q277L |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,666 (GRCm39) |
D600N |
possibly damaging |
Het |
| Siah3 |
A |
G |
14: 75,763,421 (GRCm39) |
D224G |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,598,675 (GRCm39) |
L244P |
probably damaging |
Het |
| Stap2 |
A |
T |
17: 56,304,511 (GRCm39) |
W374R |
probably benign |
Het |
| Tbck |
T |
A |
3: 132,432,845 (GRCm39) |
N418K |
probably benign |
Het |
| Tcp11x2 |
T |
C |
X: 134,555,733 (GRCm39) |
N474S |
probably damaging |
Het |
| Tenm3 |
A |
C |
8: 48,681,590 (GRCm39) |
V2680G |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,538,213 (GRCm39) |
|
probably benign |
Het |
| Tlr6 |
C |
T |
5: 65,110,772 (GRCm39) |
V712M |
probably damaging |
Het |
| Uvssa |
G |
T |
5: 33,547,162 (GRCm39) |
G243C |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,401,660 (GRCm39) |
|
probably benign |
Het |
| Znrf2 |
A |
T |
6: 54,861,776 (GRCm39) |
N229I |
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 |
|
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 |
|
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'- AAGTTTCTATGATCCACAGAACTCCC -3'
(R):5'- TGTTCTGATGAGGAGCGTCC -3'
Sequencing Primer
(F):5'- TGATCCACAGAACTCCCAAATAGAG -3'
(R):5'- TTCAACCAGCCGAGCCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation