Incidental Mutation 'R6998:Fbxl13'
ID |
544337 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxl13
|
Ensembl Gene |
ENSMUSG00000048520 |
Gene Name |
F-box and leucine-rich repeat protein 13 |
Synonyms |
4921539K22Rik |
MMRRC Submission |
045010-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6998 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
21688845-21850632 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21825611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 164
(I164V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051358]
[ENSMUST00000115234]
|
AlphaFold |
Q8CDU4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000051358
AA Change: I164V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000052716 Gene: ENSMUSG00000048520 AA Change: I164V
Domain | Start | End | E-Value | Type |
low complexity region
|
160 |
173 |
N/A |
INTRINSIC |
FBOX
|
243 |
283 |
3.73e-4 |
SMART |
LRR_CC
|
328 |
353 |
6.62e-6 |
SMART |
LRR
|
354 |
378 |
3.67e2 |
SMART |
LRR
|
379 |
404 |
2.75e-3 |
SMART |
LRR
|
407 |
425 |
4.51e2 |
SMART |
LRR
|
426 |
451 |
2.63e0 |
SMART |
LRR
|
476 |
501 |
4.15e1 |
SMART |
LRR
|
502 |
526 |
1.82e1 |
SMART |
LRR
|
529 |
554 |
1.76e-1 |
SMART |
LRR_CC
|
555 |
580 |
4.61e-5 |
SMART |
LRR
|
604 |
629 |
8.81e-2 |
SMART |
LRR
|
630 |
655 |
2.37e1 |
SMART |
LRR
|
656 |
681 |
3.21e-4 |
SMART |
LRR
|
682 |
707 |
6.57e-1 |
SMART |
LRR
|
708 |
733 |
9.47e1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115234
AA Change: I164V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000110889 Gene: ENSMUSG00000048520 AA Change: I164V
Domain | Start | End | E-Value | Type |
low complexity region
|
160 |
173 |
N/A |
INTRINSIC |
FBOX
|
243 |
283 |
3.73e-4 |
SMART |
LRR_CC
|
328 |
353 |
6.62e-6 |
SMART |
LRR
|
354 |
378 |
3.67e2 |
SMART |
LRR
|
379 |
404 |
2.75e-3 |
SMART |
LRR
|
407 |
432 |
6.88e-4 |
SMART |
Blast:LRR
|
433 |
458 |
7e-8 |
BLAST |
LRR
|
459 |
484 |
2.63e0 |
SMART |
LRR
|
509 |
534 |
4.15e1 |
SMART |
LRR
|
535 |
559 |
1.82e1 |
SMART |
LRR
|
562 |
587 |
1.76e-1 |
SMART |
LRR_CC
|
588 |
613 |
4.61e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
A |
G |
3: 98,070,026 (GRCm39) |
R620G |
probably benign |
Het |
Adcy1 |
A |
C |
11: 7,029,026 (GRCm39) |
N259H |
probably damaging |
Het |
Ahctf1 |
G |
A |
1: 179,598,480 (GRCm39) |
R2* |
probably null |
Het |
Akr1c21 |
A |
G |
13: 4,633,850 (GRCm39) |
I306M |
probably benign |
Het |
Alg9 |
T |
A |
9: 50,700,921 (GRCm39) |
S230R |
possibly damaging |
Het |
Armt1 |
T |
A |
10: 4,403,937 (GRCm39) |
C341S |
probably benign |
Het |
Aspg |
T |
A |
12: 112,078,628 (GRCm39) |
L29M |
probably damaging |
Het |
Aspm |
C |
T |
1: 139,397,210 (GRCm39) |
T934I |
probably damaging |
Het |
C1rl |
T |
C |
6: 124,485,861 (GRCm39) |
S411P |
probably damaging |
Het |
Card14 |
A |
G |
11: 119,213,725 (GRCm39) |
E224G |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,883,111 (GRCm39) |
H1587R |
probably damaging |
Het |
Ccp110 |
A |
G |
7: 118,332,120 (GRCm39) |
T963A |
possibly damaging |
Het |
Cdk11b |
G |
A |
4: 155,732,800 (GRCm39) |
W546* |
probably null |
Het |
Cyp8b1 |
T |
C |
9: 121,745,059 (GRCm39) |
N91S |
probably benign |
Het |
Dab2 |
G |
T |
15: 6,454,130 (GRCm39) |
M213I |
possibly damaging |
Het |
Decr1 |
A |
G |
4: 15,930,960 (GRCm39) |
V124A |
probably damaging |
Het |
Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
Garem2 |
T |
C |
5: 30,319,168 (GRCm39) |
M210T |
possibly damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Ighv1-52 |
C |
A |
12: 115,109,112 (GRCm39) |
A115S |
probably benign |
Het |
Igkv6-13 |
A |
G |
6: 70,434,573 (GRCm39) |
S91P |
probably damaging |
Het |
Ints8 |
T |
A |
4: 11,204,537 (GRCm39) |
E973V |
possibly damaging |
Het |
Itga3 |
T |
C |
11: 94,942,288 (GRCm39) |
K972R |
probably benign |
Het |
Klhl33 |
A |
T |
14: 51,130,478 (GRCm39) |
F339I |
probably benign |
Het |
Krt79 |
T |
C |
15: 101,846,307 (GRCm39) |
M214V |
probably benign |
Het |
Lgsn |
A |
T |
1: 31,243,274 (GRCm39) |
H452L |
probably benign |
Het |
Limd2 |
C |
T |
11: 106,049,516 (GRCm39) |
G124D |
probably benign |
Het |
Luzp1 |
T |
C |
4: 136,270,755 (GRCm39) |
S993P |
probably damaging |
Het |
Maml2 |
C |
T |
9: 13,532,481 (GRCm39) |
|
probably benign |
Het |
Mbtd1 |
A |
T |
11: 93,815,438 (GRCm39) |
H342L |
probably damaging |
Het |
Mfhas1 |
C |
A |
8: 36,058,510 (GRCm39) |
P995Q |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,372,451 (GRCm39) |
F3399S |
possibly damaging |
Het |
Napb |
T |
C |
2: 148,542,345 (GRCm39) |
Y205C |
probably damaging |
Het |
Odf2 |
G |
T |
2: 29,802,629 (GRCm39) |
A298S |
probably benign |
Het |
Or11g7 |
A |
T |
14: 50,690,890 (GRCm39) |
Y127F |
probably benign |
Het |
Or4s2b |
A |
T |
2: 88,508,852 (GRCm39) |
I218F |
probably benign |
Het |
Or8k35 |
A |
T |
2: 86,424,488 (GRCm39) |
M228K |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,450,476 (GRCm39) |
D1124G |
probably benign |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pik3c2b |
T |
G |
1: 133,030,110 (GRCm39) |
I1457S |
probably benign |
Het |
Pole2 |
T |
C |
12: 69,260,680 (GRCm39) |
T167A |
possibly damaging |
Het |
Rfx7 |
T |
A |
9: 72,525,787 (GRCm39) |
S992R |
probably damaging |
Het |
Ryr2 |
G |
T |
13: 11,727,052 (GRCm39) |
S2436R |
probably damaging |
Het |
Sgo2a |
A |
G |
1: 58,055,799 (GRCm39) |
D661G |
probably damaging |
Het |
Sh3glb2 |
T |
A |
2: 30,245,333 (GRCm39) |
T49S |
probably damaging |
Het |
Slc16a10 |
T |
C |
10: 39,932,499 (GRCm39) |
K354R |
possibly damaging |
Het |
Slc6a6 |
C |
A |
6: 91,729,419 (GRCm39) |
T568K |
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,050,633 (GRCm39) |
T2319A |
probably damaging |
Het |
Tbl1xr1 |
T |
A |
3: 22,233,454 (GRCm39) |
Y15N |
probably damaging |
Het |
Thyn1 |
T |
C |
9: 26,917,738 (GRCm39) |
S160P |
probably damaging |
Het |
Tshz1 |
A |
T |
18: 84,033,966 (GRCm39) |
D147E |
probably benign |
Het |
Vmn2r50 |
T |
G |
7: 9,771,684 (GRCm39) |
R672S |
probably benign |
Het |
Zfp663 |
A |
T |
2: 165,195,922 (GRCm39) |
I99N |
possibly damaging |
Het |
|
Other mutations in Fbxl13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01722:Fbxl13
|
APN |
5 |
21,695,412 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02178:Fbxl13
|
APN |
5 |
21,825,718 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02271:Fbxl13
|
APN |
5 |
21,695,454 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02317:Fbxl13
|
APN |
5 |
21,727,232 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02508:Fbxl13
|
APN |
5 |
21,761,803 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02891:Fbxl13
|
APN |
5 |
21,727,098 (GRCm39) |
splice site |
probably benign |
|
IGL03387:Fbxl13
|
APN |
5 |
21,728,796 (GRCm39) |
critical splice donor site |
probably null |
|
Laurel
|
UTSW |
5 |
21,787,051 (GRCm39) |
nonsense |
probably null |
|
PIT4305001:Fbxl13
|
UTSW |
5 |
21,727,146 (GRCm39) |
missense |
probably benign |
|
R0040:Fbxl13
|
UTSW |
5 |
21,691,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R0040:Fbxl13
|
UTSW |
5 |
21,691,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R0278:Fbxl13
|
UTSW |
5 |
21,728,908 (GRCm39) |
missense |
probably benign |
0.03 |
R0597:Fbxl13
|
UTSW |
5 |
21,819,712 (GRCm39) |
missense |
probably benign |
0.09 |
R1110:Fbxl13
|
UTSW |
5 |
21,689,034 (GRCm39) |
missense |
probably benign |
|
R1172:Fbxl13
|
UTSW |
5 |
21,825,602 (GRCm39) |
splice site |
probably benign |
|
R1175:Fbxl13
|
UTSW |
5 |
21,825,602 (GRCm39) |
splice site |
probably benign |
|
R1464:Fbxl13
|
UTSW |
5 |
21,688,989 (GRCm39) |
missense |
probably benign |
0.21 |
R1464:Fbxl13
|
UTSW |
5 |
21,688,989 (GRCm39) |
missense |
probably benign |
0.21 |
R2174:Fbxl13
|
UTSW |
5 |
21,787,046 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2426:Fbxl13
|
UTSW |
5 |
21,727,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R4171:Fbxl13
|
UTSW |
5 |
21,748,786 (GRCm39) |
missense |
probably benign |
0.02 |
R4413:Fbxl13
|
UTSW |
5 |
21,787,051 (GRCm39) |
nonsense |
probably null |
|
R4655:Fbxl13
|
UTSW |
5 |
21,787,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R4816:Fbxl13
|
UTSW |
5 |
21,689,001 (GRCm39) |
missense |
probably benign |
0.25 |
R5544:Fbxl13
|
UTSW |
5 |
21,729,489 (GRCm39) |
missense |
probably damaging |
0.96 |
R5979:Fbxl13
|
UTSW |
5 |
21,787,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R6176:Fbxl13
|
UTSW |
5 |
21,705,498 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6211:Fbxl13
|
UTSW |
5 |
21,689,019 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6252:Fbxl13
|
UTSW |
5 |
21,826,499 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6336:Fbxl13
|
UTSW |
5 |
21,728,545 (GRCm39) |
critical splice donor site |
probably null |
|
R6455:Fbxl13
|
UTSW |
5 |
21,761,812 (GRCm39) |
missense |
probably benign |
0.02 |
R6522:Fbxl13
|
UTSW |
5 |
21,766,554 (GRCm39) |
splice site |
probably null |
|
R6827:Fbxl13
|
UTSW |
5 |
21,727,176 (GRCm39) |
missense |
probably damaging |
0.97 |
R6961:Fbxl13
|
UTSW |
5 |
21,748,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R6998:Fbxl13
|
UTSW |
5 |
21,748,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R7152:Fbxl13
|
UTSW |
5 |
21,787,065 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7196:Fbxl13
|
UTSW |
5 |
21,691,301 (GRCm39) |
missense |
probably damaging |
0.97 |
R7418:Fbxl13
|
UTSW |
5 |
21,786,981 (GRCm39) |
missense |
probably benign |
0.00 |
R7490:Fbxl13
|
UTSW |
5 |
21,728,058 (GRCm39) |
nonsense |
probably null |
|
R7649:Fbxl13
|
UTSW |
5 |
21,819,664 (GRCm39) |
missense |
probably benign |
0.13 |
R7816:Fbxl13
|
UTSW |
5 |
21,748,785 (GRCm39) |
missense |
probably benign |
0.11 |
R7954:Fbxl13
|
UTSW |
5 |
21,748,767 (GRCm39) |
missense |
probably benign |
0.19 |
R8036:Fbxl13
|
UTSW |
5 |
21,728,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R8098:Fbxl13
|
UTSW |
5 |
21,825,716 (GRCm39) |
missense |
probably benign |
0.00 |
R8406:Fbxl13
|
UTSW |
5 |
21,728,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R8912:Fbxl13
|
UTSW |
5 |
21,727,184 (GRCm39) |
missense |
probably damaging |
0.96 |
R9102:Fbxl13
|
UTSW |
5 |
21,837,801 (GRCm39) |
missense |
probably benign |
0.00 |
R9378:Fbxl13
|
UTSW |
5 |
21,790,201 (GRCm39) |
missense |
probably damaging |
0.98 |
R9473:Fbxl13
|
UTSW |
5 |
21,790,243 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9553:Fbxl13
|
UTSW |
5 |
21,728,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTGAGCACTTTCGATTGC -3'
(R):5'- TACCCTCCCTGGCAACTATCAG -3'
Sequencing Primer
(F):5'- AGGTCTTACTCTACAGCCCAGG -3'
(R):5'- CCTGGCAACTATCAGAAATTCTTC -3'
|
Posted On |
2019-05-13 |