Incidental Mutation 'R6540:Fbxl19'
| ID |
520692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl19
|
| Ensembl Gene |
ENSMUSG00000030811 |
| Gene Name |
F-box and leucine-rich repeat protein 19 |
| Synonyms |
Fbl19 |
| MMRRC Submission |
044666-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R6540 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127343715-127368655 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
G to T
at 127347525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033081]
[ENSMUST00000186116]
[ENSMUST00000186207]
[ENSMUST00000188580]
[ENSMUST00000189562]
[ENSMUST00000205689]
[ENSMUST00000206893]
|
| AlphaFold |
Q6PB97 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000033081
AA Change: R27L
|
| SMART Domains |
Protein: ENSMUSP00000033081
Gene: ENSMUSG00000030811
AA Change: R27L
| 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 |
unknown
Transcript: ENSMUST00000186207
AA Change: R27L
|
| SMART Domains |
Protein: ENSMUSP00000140303
Gene: ENSMUSG00000030811
AA Change: R27L
| 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 |
unknown
Transcript: ENSMUST00000188580
AA Change: R27L
|
| SMART Domains |
Protein: ENSMUSP00000140021
Gene: ENSMUSG00000030811
AA Change: R27L
| 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 |
unknown
Transcript: ENSMUST00000189562
AA Change: R27L
|
| SMART Domains |
Protein: ENSMUSP00000139972
Gene: ENSMUSG00000030811
AA Change: R27L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CXXC
|
11 |
57 |
9.3e-16 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205689
AA Change: R27L
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206893
AA Change: R27L
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,660,779 (GRCm39) |
Y143H |
possibly damaging |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,679,567 (GRCm39) |
V849A |
possibly damaging |
Het |
| Ash1l |
A |
T |
3: 88,892,368 (GRCm39) |
T1416S |
probably damaging |
Het |
| Cdc5l |
A |
G |
17: 45,737,570 (GRCm39) |
W63R |
probably damaging |
Het |
| Cep95 |
T |
A |
11: 106,692,328 (GRCm39) |
D169E |
probably damaging |
Het |
| Col14a1 |
A |
C |
15: 55,235,977 (GRCm39) |
N297T |
unknown |
Het |
| Cp |
T |
C |
3: 20,018,693 (GRCm39) |
|
probably null |
Het |
| Flnc |
T |
C |
6: 29,446,376 (GRCm39) |
V931A |
possibly damaging |
Het |
| Foxj2 |
A |
G |
6: 122,810,202 (GRCm39) |
H187R |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,441,634 (GRCm39) |
V1199I |
probably benign |
Het |
| Ighv7-4 |
A |
G |
12: 114,186,470 (GRCm39) |
Y101H |
possibly damaging |
Het |
| Igkv10-94 |
T |
A |
6: 68,681,507 (GRCm39) |
Y111F |
probably benign |
Het |
| Lin28a |
C |
T |
4: 133,745,372 (GRCm39) |
V74M |
possibly damaging |
Het |
| Lrrc49 |
T |
C |
9: 60,592,335 (GRCm39) |
N53S |
possibly damaging |
Het |
| Mroh9 |
T |
G |
1: 162,866,541 (GRCm39) |
T701P |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,515,801 (GRCm39) |
K309* |
probably null |
Het |
| Nlrp9a |
T |
C |
7: 26,256,817 (GRCm39) |
V145A |
possibly damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,571 (GRCm39) |
I272V |
probably benign |
Het |
| Ovgp1 |
A |
T |
3: 105,893,897 (GRCm39) |
K557* |
probably null |
Het |
| Pde4b |
T |
C |
4: 102,459,073 (GRCm39) |
L546P |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,794,951 (GRCm39) |
V2213M |
probably damaging |
Het |
| Plekhh1 |
A |
G |
12: 79,111,263 (GRCm39) |
I542V |
probably benign |
Het |
| Ppan |
A |
G |
9: 20,802,506 (GRCm39) |
|
probably null |
Het |
| Prdm15 |
A |
T |
16: 97,637,005 (GRCm39) |
V104E |
probably benign |
Het |
| Semp2l2a |
A |
C |
8: 13,887,573 (GRCm39) |
S173A |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,123,351 (GRCm39) |
H1050R |
probably benign |
Het |
| Slc35d3 |
A |
G |
10: 19,725,086 (GRCm39) |
F257L |
possibly damaging |
Het |
| Tfip11 |
A |
G |
5: 112,482,263 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
A |
G |
5: 128,345,596 (GRCm39) |
S309P |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,234,400 (GRCm39) |
I48V |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,703,056 (GRCm39) |
L174* |
probably null |
Het |
| Zfp729a |
A |
G |
13: 67,767,767 (GRCm39) |
C821R |
possibly damaging |
Het |
| Zfp970 |
C |
A |
2: 177,167,388 (GRCm39) |
H321N |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,804,055 (GRCm39) |
L2599P |
probably damaging |
Het |
|
| Other mutations in Fbxl19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0559:Fbxl19
|
UTSW |
7 |
127,349,390 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
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 |
|
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'- ACCTTCTCTGAGGGTAGAAACAG -3'
(R):5'- CCCGTACTACTACTGATGGTGC -3'
Sequencing Primer
(F):5'- CCCATCAGAGGTGTAGTGAGC -3'
(R):5'- ACTACTACTGATGGTGCTCTGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation