Incidental Mutation 'R2911:Fbxo38'
| ID |
261276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo38
|
| Ensembl Gene |
ENSMUSG00000042211 |
| Gene Name |
F-box protein 38 |
| Synonyms |
SP329, 6030410I24Rik |
| MMRRC Submission |
040498-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2911 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
62637226-62681766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62652878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 523
(D523G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048688]
|
| AlphaFold |
Q8BMI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048688
AA Change: D523G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: D523G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,378,982 (GRCm39) |
T645A |
probably damaging |
Het |
| Adam10 |
C |
T |
9: 70,626,005 (GRCm39) |
S91L |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,497,553 (GRCm39) |
|
probably null |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,079,884 (GRCm39) |
|
probably null |
Het |
| Clstn2 |
A |
G |
9: 97,414,775 (GRCm39) |
V373A |
probably damaging |
Het |
| Cyp2c65 |
T |
G |
19: 39,076,126 (GRCm39) |
I359M |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,290,723 (GRCm39) |
K282* |
probably null |
Het |
| Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,466,983 (GRCm39) |
|
probably null |
Het |
| Dzip1l |
T |
C |
9: 99,537,655 (GRCm39) |
V419A |
probably benign |
Het |
| Epha3 |
A |
C |
16: 63,472,775 (GRCm39) |
V370G |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,207,799 (GRCm39) |
D2457G |
probably damaging |
Het |
| Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,286,457 (GRCm39) |
I75V |
probably benign |
Het |
| Lcp2 |
G |
A |
11: 34,018,970 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
A |
19: 33,556,767 (GRCm39) |
I220F |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,396,704 (GRCm39) |
E340G |
probably benign |
Het |
| Lypd8l |
G |
A |
11: 58,499,252 (GRCm39) |
Q189* |
probably null |
Het |
| Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
| Ndc80 |
A |
T |
17: 71,807,371 (GRCm39) |
S528R |
probably benign |
Het |
| Odf2l |
A |
C |
3: 144,830,084 (GRCm39) |
I19L |
probably benign |
Het |
| Or10d3 |
T |
C |
9: 39,462,117 (GRCm39) |
I17V |
possibly damaging |
Het |
| Or5h25 |
C |
T |
16: 58,930,544 (GRCm39) |
R143H |
probably benign |
Het |
| Or7e177 |
A |
G |
9: 20,211,775 (GRCm39) |
K94R |
possibly damaging |
Het |
| Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
| Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
| Rin3 |
T |
G |
12: 102,339,843 (GRCm39) |
S598A |
probably benign |
Het |
| Rreb1 |
A |
T |
13: 38,132,896 (GRCm39) |
E1690D |
probably benign |
Het |
| Rubcnl |
C |
T |
14: 75,278,248 (GRCm39) |
T344I |
probably benign |
Het |
| Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
| Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
| Sox17 |
A |
T |
1: 4,563,354 (GRCm39) |
D92E |
probably damaging |
Het |
| Spata21 |
A |
G |
4: 140,830,393 (GRCm39) |
M288V |
possibly damaging |
Het |
| Sra1 |
T |
C |
18: 36,809,238 (GRCm39) |
D273G |
possibly damaging |
Het |
| Syt7 |
T |
C |
19: 10,420,799 (GRCm39) |
I448T |
probably benign |
Het |
| Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
C |
A |
4: 3,585,616 (GRCm39) |
N164K |
probably benign |
Het |
| Tmem72 |
T |
A |
6: 116,675,292 (GRCm39) |
I67F |
possibly damaging |
Het |
| Ythdc1 |
T |
C |
5: 86,964,418 (GRCm39) |
S88P |
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 |
|
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 |
|
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'- ATGTACCCTAATCCCCAGGATC -3'
(R):5'- AGAAGTACATGGTGTGTTTGCC -3'
Sequencing Primer
(F):5'- AGGATCAATTACCATTCCCGTTC -3'
(R):5'- CCTAGGGCTGTGCTCGAGTTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation