Incidental Mutation 'R0559:Fbxl19'
| ID |
45791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl19
|
| Ensembl Gene |
ENSMUSG00000030811 |
| Gene Name |
F-box and leucine-rich repeat protein 19 |
| Synonyms |
Fbl19 |
| MMRRC Submission |
038751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R0559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127343715-127368655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 127349390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 160
(W160L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033081]
[ENSMUST00000186116]
[ENSMUST00000186207]
[ENSMUST00000188580]
[ENSMUST00000189562]
[ENSMUST00000205689]
[ENSMUST00000206893]
|
| AlphaFold |
Q6PB97 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033081
AA Change: W160L
PolyPhen 2
Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000033081
Gene: ENSMUSG00000030811
AA Change: W160L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CXXC
|
11 |
57 |
1.7e-16 |
PFAM |
|
PHD
|
67 |
129 |
4e-4 |
SMART |
|
low complexity region
|
166 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
377 |
N/A |
INTRINSIC |
|
FBOX
|
404 |
444 |
4.6e-4 |
SMART |
|
low complexity region
|
509 |
520 |
N/A |
INTRINSIC |
|
LRR
|
576 |
601 |
3.58e1 |
SMART |
|
LRR
|
631 |
656 |
1.28e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186116
|
| SMART Domains |
Protein: ENSMUSP00000140083
Gene: ENSMUSG00000030811
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
85 |
N/A |
INTRINSIC |
|
FBOX
|
112 |
152 |
3e-6 |
SMART |
|
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
|
LRR
|
284 |
309 |
1.5e-1 |
SMART |
|
LRR
|
339 |
364 |
5.3e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186207
AA Change: W160L
PolyPhen 2
Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140303
Gene: ENSMUSG00000030811
AA Change: W160L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CXXC
|
11 |
57 |
1.7e-16 |
PFAM |
|
PHD
|
67 |
129 |
4e-4 |
SMART |
|
low complexity region
|
166 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
377 |
N/A |
INTRINSIC |
|
FBOX
|
404 |
444 |
4.6e-4 |
SMART |
|
low complexity region
|
509 |
520 |
N/A |
INTRINSIC |
|
LRR
|
576 |
601 |
3.58e1 |
SMART |
|
LRR
|
631 |
656 |
1.28e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188580
|
| SMART Domains |
Protein: ENSMUSP00000140021
Gene: ENSMUSG00000030811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CXXC
|
11 |
57 |
1.3e-16 |
PFAM |
|
PHD
|
67 |
129 |
4e-4 |
SMART |
|
low complexity region
|
186 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
261 |
N/A |
INTRINSIC |
|
FBOX
|
288 |
328 |
4.6e-4 |
SMART |
|
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
|
LRR
|
460 |
485 |
3.58e1 |
SMART |
|
LRR
|
515 |
540 |
1.28e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189562
|
| SMART Domains |
Protein: ENSMUSP00000139972
Gene: ENSMUSG00000030811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CXXC
|
11 |
57 |
9.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205689
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206893
AA Change: W160L
PolyPhen 2
Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.0626 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
97% (34/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,748,535 (GRCm39) |
I289F |
probably benign |
Het |
| Adam15 |
G |
A |
3: 89,251,085 (GRCm39) |
A540V |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,709,062 (GRCm39) |
T254A |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,644,814 (GRCm39) |
V684A |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,876,618 (GRCm39) |
|
probably benign |
Het |
| Arl5b |
T |
C |
2: 15,077,998 (GRCm39) |
Y108H |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,224,597 (GRCm39) |
F331L |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 76,892,833 (GRCm39) |
K785E |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,560 (GRCm39) |
R896W |
probably damaging |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,223 (GRCm39) |
H112L |
probably benign |
Het |
| H1f8 |
T |
C |
6: 115,924,760 (GRCm39) |
Y89H |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,176,053 (GRCm39) |
V626A |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,600,369 (GRCm39) |
K34R |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,196,011 (GRCm39) |
E596G |
probably benign |
Het |
| Olfml2a |
T |
C |
2: 38,849,832 (GRCm39) |
I516T |
probably damaging |
Het |
| Or14j5 |
C |
T |
17: 38,161,746 (GRCm39) |
R88* |
probably null |
Het |
| Or5w12 |
T |
G |
2: 87,502,244 (GRCm39) |
T156P |
possibly damaging |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,768,362 (GRCm39) |
F181L |
probably benign |
Het |
| Pkdcc |
G |
A |
17: 83,523,454 (GRCm39) |
G187D |
probably benign |
Het |
| Plekhh3 |
C |
T |
11: 101,055,592 (GRCm39) |
E483K |
possibly damaging |
Het |
| Ptx4 |
C |
T |
17: 25,342,082 (GRCm39) |
Q186* |
probably null |
Het |
| Qsox2 |
T |
A |
2: 26,104,169 (GRCm39) |
H287L |
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,700,483 (GRCm39) |
G1660D |
probably damaging |
Het |
| Scamp1 |
G |
T |
13: 94,344,690 (GRCm39) |
A217E |
possibly damaging |
Het |
| Slc5a9 |
T |
C |
4: 111,742,779 (GRCm39) |
I438V |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,263,895 (GRCm39) |
F818S |
probably damaging |
Het |
| Srl |
G |
A |
16: 4,314,842 (GRCm39) |
P267S |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,331,136 (GRCm39) |
I105T |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,060 (GRCm39) |
Y128H |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,058,282 (GRCm39) |
S907T |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,778,364 (GRCm39) |
R225* |
probably null |
Het |
| Upk3bl |
A |
G |
5: 136,086,330 (GRCm39) |
T89A |
probably benign |
Het |
| Vars1 |
T |
A |
17: 35,233,034 (GRCm39) |
C916* |
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,208 (GRCm39) |
E5G |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,747,419 (GRCm39) |
D568G |
probably damaging |
Het |
| Zgpat |
T |
C |
2: 181,021,985 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fbxl19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1933:Fbxl19
|
UTSW |
7 |
127,350,101 (GRCm39) |
missense |
probably benign |
|
|
R2280:Fbxl19
|
UTSW |
7 |
127,347,540 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2935:Fbxl19
|
UTSW |
7 |
127,351,432 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5580:Fbxl19
|
UTSW |
7 |
127,350,168 (GRCm39) |
nonsense |
probably null |
|
|
R6032:Fbxl19
|
UTSW |
7 |
127,360,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Fbxl19
|
UTSW |
7 |
127,360,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6054:Fbxl19
|
UTSW |
7 |
127,351,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6540:Fbxl19
|
UTSW |
7 |
127,347,525 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6825:Fbxl19
|
UTSW |
7 |
127,349,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7136:Fbxl19
|
UTSW |
7 |
127,349,217 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8327:Fbxl19
|
UTSW |
7 |
127,347,520 (GRCm39) |
nonsense |
probably null |
|
|
X0060:Fbxl19
|
UTSW |
7 |
127,366,975 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1176:Fbxl19
|
UTSW |
7 |
127,360,447 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACAATCTGCAACGAGATCGTCC -3'
(R):5'- TCCCATGTTCTAAGACAGCCGTCC -3'
Sequencing Primer
(F):5'- TCTCTTGCCTACAGATGGGAAAG -3'
(R):5'- TAAGACAGCCGTCCCCTTC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation