Incidental Mutation 'R5769:Fbxo38'
| ID |
446467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo38
|
| Ensembl Gene |
ENSMUSG00000042211 |
| Gene Name |
F-box protein 38 |
| Synonyms |
SP329, 6030410I24Rik |
| MMRRC Submission |
043369-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5769 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
62637226-62681766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62648036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 834
(P834L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048688]
|
| AlphaFold |
Q8BMI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048688
AA Change: P834L
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: P834L
| 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 |
0.0612 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,644,595 (GRCm39) |
V160E |
possibly damaging |
Het |
| Abcb1a |
A |
C |
5: 8,733,426 (GRCm39) |
E106A |
probably benign |
Het |
| Acap3 |
A |
T |
4: 155,986,857 (GRCm39) |
D371V |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,835,981 (GRCm39) |
|
probably null |
Het |
| Coq8a |
A |
G |
1: 180,006,681 (GRCm39) |
Y69H |
probably damaging |
Het |
| Defb33 |
T |
A |
8: 21,387,543 (GRCm39) |
F27I |
possibly damaging |
Het |
| Dhx29 |
T |
A |
13: 113,090,251 (GRCm39) |
L776Q |
probably damaging |
Het |
| Dnah3 |
G |
A |
7: 119,689,175 (GRCm39) |
R80* |
probably null |
Het |
| Dtna |
A |
T |
18: 23,784,611 (GRCm39) |
D646V |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,756,878 (GRCm39) |
D1964V |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,238,271 (GRCm39) |
N575K |
probably damaging |
Het |
| Fyb2 |
G |
T |
4: 104,870,518 (GRCm39) |
K706N |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,872,841 (GRCm39) |
V738E |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,972,249 (GRCm39) |
T397A |
probably benign |
Het |
| Gins1 |
A |
T |
2: 150,767,918 (GRCm39) |
E149D |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Grin2a |
C |
T |
16: 9,579,390 (GRCm39) |
R291K |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,007,819 (GRCm39) |
M646V |
probably benign |
Het |
| Hes6 |
G |
T |
1: 91,340,671 (GRCm39) |
R38S |
probably damaging |
Het |
| Hipk3 |
G |
A |
2: 104,265,298 (GRCm39) |
P667S |
possibly damaging |
Het |
| Jrk |
T |
C |
15: 74,577,917 (GRCm39) |
Q456R |
probably benign |
Het |
| Klf18 |
A |
C |
4: 117,586,162 (GRCm39) |
|
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,027,581 (GRCm39) |
T708A |
probably damaging |
Het |
| Lyg1 |
T |
C |
1: 37,989,831 (GRCm39) |
S19G |
unknown |
Het |
| Magel2 |
T |
A |
7: 62,027,861 (GRCm39) |
M255K |
probably benign |
Het |
| Mctp1 |
A |
G |
13: 76,907,927 (GRCm39) |
D242G |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,236,829 (GRCm39) |
N109K |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,952,825 (GRCm39) |
F95L |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,379,995 (GRCm39) |
L1569P |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,220,747 (GRCm39) |
E940G |
probably benign |
Het |
| Oas1d |
T |
C |
5: 121,054,917 (GRCm39) |
F163S |
probably benign |
Het |
| Odf2l |
A |
G |
3: 144,841,492 (GRCm39) |
K304R |
possibly damaging |
Het |
| Otud3 |
T |
A |
4: 138,625,421 (GRCm39) |
N211I |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,886,772 (GRCm39) |
L593* |
probably null |
Het |
| Pdcd11 |
T |
A |
19: 47,091,076 (GRCm39) |
L350Q |
possibly damaging |
Het |
| Pdia4 |
A |
G |
6: 47,792,446 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
G |
A |
9: 98,975,212 (GRCm39) |
Q223* |
probably null |
Het |
| Plb1 |
G |
A |
5: 32,474,866 (GRCm39) |
V696M |
probably benign |
Het |
| Ppp2r5a |
T |
C |
1: 191,104,863 (GRCm39) |
D61G |
probably benign |
Het |
| Preb |
G |
T |
5: 31,115,635 (GRCm39) |
Y87* |
probably null |
Het |
| Rdh16f2 |
A |
T |
10: 127,712,758 (GRCm39) |
N252I |
probably benign |
Het |
| Rida |
T |
C |
15: 34,484,704 (GRCm39) |
|
probably benign |
Het |
| Rxrb |
T |
C |
17: 34,251,821 (GRCm39) |
|
probably benign |
Het |
| Sis |
T |
A |
3: 72,835,568 (GRCm39) |
K931N |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,158,994 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
A |
G |
11: 116,137,495 (GRCm39) |
S525P |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,735,141 (GRCm39) |
|
probably benign |
Het |
| Syt12 |
T |
C |
19: 4,501,072 (GRCm39) |
Y326C |
probably damaging |
Het |
| Tesk2 |
A |
G |
4: 116,659,512 (GRCm39) |
|
probably null |
Het |
| Tmem41b |
G |
A |
7: 109,577,945 (GRCm39) |
T113I |
possibly damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,205,907 (GRCm39) |
I463V |
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,277,904 (GRCm39) |
D320V |
probably damaging |
Het |
| Ushbp1 |
A |
T |
8: 71,838,863 (GRCm39) |
N570K |
probably benign |
Het |
| Vmn1r33 |
T |
A |
6: 66,588,817 (GRCm39) |
I246F |
possibly damaging |
Het |
| Vmn2r54 |
A |
C |
7: 12,349,209 (GRCm39) |
L791R |
possibly damaging |
Het |
| Washc1 |
A |
T |
17: 66,425,111 (GRCm39) |
T372S |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,110,198 (GRCm39) |
E296G |
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 |
|
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 |
|
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'- CTGACTCAGATATCAGCGGTAC -3'
(R):5'- AGATGTATCCAGGCAGTGTGTC -3'
Sequencing Primer
(F):5'- CTCAGATATCAGCGGTACATGGGAC -3'
(R):5'- ACTCTGAGGCCATGGAGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation