Incidental Mutation 'R6713:Fyb2'
ID |
529204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fyb2
|
Ensembl Gene |
ENSMUSG00000078612 |
Gene Name |
FYN binding protein 2 |
Synonyms |
1700024P16Rik |
MMRRC Submission |
044831-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R6713 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
104770653-104874060 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104847432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 484
(M484K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102415
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106803]
[ENSMUST00000106804]
|
AlphaFold |
A2A995 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000106803
AA Change: M484K
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000102415 Gene: ENSMUSG00000078612 AA Change: M484K
Domain | Start | End | E-Value | Type |
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
low complexity region
|
340 |
349 |
N/A |
INTRINSIC |
low complexity region
|
442 |
459 |
N/A |
INTRINSIC |
low complexity region
|
537 |
549 |
N/A |
INTRINSIC |
low complexity region
|
567 |
578 |
N/A |
INTRINSIC |
low complexity region
|
682 |
697 |
N/A |
INTRINSIC |
SH3
|
735 |
791 |
3.82e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106804
AA Change: M420K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000102416 Gene: ENSMUSG00000078612 AA Change: M420K
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
68 |
N/A |
INTRINSIC |
low complexity region
|
276 |
285 |
N/A |
INTRINSIC |
low complexity region
|
378 |
395 |
N/A |
INTRINSIC |
low complexity region
|
473 |
485 |
N/A |
INTRINSIC |
low complexity region
|
503 |
514 |
N/A |
INTRINSIC |
low complexity region
|
618 |
633 |
N/A |
INTRINSIC |
SH3
|
671 |
727 |
3.82e0 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol10a |
C |
T |
15: 77,373,051 (GRCm39) |
T229M |
possibly damaging |
Het |
Cdh16 |
G |
A |
8: 105,346,617 (GRCm39) |
Q226* |
probably null |
Het |
Cemip |
A |
T |
7: 83,592,845 (GRCm39) |
N1227K |
probably benign |
Het |
Dusp13b |
A |
G |
14: 21,798,541 (GRCm39) |
V41A |
probably damaging |
Het |
F3 |
C |
T |
3: 121,525,323 (GRCm39) |
T53I |
possibly damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Glb1l |
A |
T |
1: 75,179,061 (GRCm39) |
H253Q |
probably benign |
Het |
Grm8 |
T |
C |
6: 27,363,190 (GRCm39) |
E775G |
probably damaging |
Het |
Hipk3 |
C |
T |
2: 104,276,916 (GRCm39) |
V388M |
probably damaging |
Het |
Ighe |
T |
C |
12: 113,232,908 (GRCm39) |
|
probably benign |
Het |
Kif14 |
A |
G |
1: 136,453,544 (GRCm39) |
T1491A |
probably benign |
Het |
Klre1 |
A |
G |
6: 129,559,229 (GRCm39) |
|
probably null |
Het |
Kpna6 |
A |
T |
4: 129,547,777 (GRCm39) |
L257M |
probably damaging |
Het |
Ldhc |
G |
A |
7: 46,515,955 (GRCm39) |
|
probably null |
Het |
Lekr1 |
C |
A |
3: 65,591,380 (GRCm39) |
A39D |
probably benign |
Het |
Lins1 |
A |
G |
7: 66,358,230 (GRCm39) |
T122A |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,769,350 (GRCm39) |
R516Q |
probably benign |
Het |
Meis3 |
G |
T |
7: 15,916,255 (GRCm39) |
G72* |
probably null |
Het |
Mpo |
A |
G |
11: 87,686,194 (GRCm39) |
T115A |
probably damaging |
Het |
Mrgprb5 |
A |
G |
7: 47,818,537 (GRCm39) |
V66A |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nags |
C |
A |
11: 102,037,347 (GRCm39) |
A146E |
probably benign |
Het |
Nkain4 |
C |
T |
2: 180,585,970 (GRCm39) |
G31D |
probably damaging |
Het |
Or2y1 |
T |
G |
11: 49,385,784 (GRCm39) |
C141W |
probably damaging |
Het |
Or4k1 |
T |
A |
14: 50,377,181 (GRCm39) |
H305L |
probably benign |
Het |
Or5ak24 |
A |
C |
2: 85,260,883 (GRCm39) |
C97G |
probably damaging |
Het |
Or8a1 |
A |
G |
9: 37,641,560 (GRCm39) |
C240R |
probably damaging |
Het |
Otud6b |
C |
T |
4: 14,822,739 (GRCm39) |
V122I |
probably benign |
Het |
Ovca2 |
C |
T |
11: 75,069,569 (GRCm39) |
S18N |
possibly damaging |
Het |
Pax2 |
A |
G |
19: 44,823,916 (GRCm39) |
S370G |
unknown |
Het |
Pias2 |
G |
A |
18: 77,153,416 (GRCm39) |
|
probably null |
Het |
Slc2a10 |
T |
C |
2: 165,357,128 (GRCm39) |
F263L |
probably damaging |
Het |
Slc6a17 |
T |
G |
3: 107,378,703 (GRCm39) |
M660L |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,323,638 (GRCm39) |
|
probably null |
Het |
Srcap |
A |
G |
7: 127,134,089 (GRCm39) |
T937A |
probably benign |
Het |
Ssh2 |
C |
A |
11: 77,340,259 (GRCm39) |
D470E |
possibly damaging |
Het |
St8sia1 |
A |
T |
6: 142,775,008 (GRCm39) |
|
probably null |
Het |
Supt20 |
T |
A |
3: 54,606,022 (GRCm39) |
I36K |
possibly damaging |
Het |
Tor1aip2 |
T |
A |
1: 155,941,155 (GRCm39) |
L487Q |
probably damaging |
Het |
Zfp619 |
G |
T |
7: 39,187,322 (GRCm39) |
K1117N |
probably damaging |
Het |
|
Other mutations in Fyb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00664:Fyb2
|
APN |
4 |
104,872,913 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01155:Fyb2
|
APN |
4 |
104,856,583 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01632:Fyb2
|
APN |
4 |
104,853,008 (GRCm39) |
missense |
probably benign |
|
IGL01746:Fyb2
|
APN |
4 |
104,802,404 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02381:Fyb2
|
APN |
4 |
104,805,863 (GRCm39) |
splice site |
probably benign |
|
IGL02590:Fyb2
|
APN |
4 |
104,836,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02885:Fyb2
|
APN |
4 |
104,861,118 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03114:Fyb2
|
APN |
4 |
104,852,975 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03189:Fyb2
|
APN |
4 |
104,872,939 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03231:Fyb2
|
APN |
4 |
104,843,460 (GRCm39) |
nonsense |
probably null |
|
R0076:Fyb2
|
UTSW |
4 |
104,802,661 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0662:Fyb2
|
UTSW |
4 |
104,852,895 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0723:Fyb2
|
UTSW |
4 |
104,873,063 (GRCm39) |
missense |
probably benign |
0.00 |
R1216:Fyb2
|
UTSW |
4 |
104,852,903 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1672:Fyb2
|
UTSW |
4 |
104,808,059 (GRCm39) |
missense |
probably benign |
0.10 |
R1710:Fyb2
|
UTSW |
4 |
104,861,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R1900:Fyb2
|
UTSW |
4 |
104,802,652 (GRCm39) |
missense |
probably benign |
0.06 |
R1965:Fyb2
|
UTSW |
4 |
104,770,846 (GRCm39) |
missense |
probably benign |
0.00 |
R2106:Fyb2
|
UTSW |
4 |
104,802,769 (GRCm39) |
missense |
probably benign |
0.01 |
R5191:Fyb2
|
UTSW |
4 |
104,852,994 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5236:Fyb2
|
UTSW |
4 |
104,805,957 (GRCm39) |
missense |
probably benign |
0.00 |
R5277:Fyb2
|
UTSW |
4 |
104,872,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R5502:Fyb2
|
UTSW |
4 |
104,802,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R5769:Fyb2
|
UTSW |
4 |
104,872,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R5769:Fyb2
|
UTSW |
4 |
104,870,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R6167:Fyb2
|
UTSW |
4 |
104,802,661 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6169:Fyb2
|
UTSW |
4 |
104,857,713 (GRCm39) |
missense |
probably benign |
0.16 |
R6371:Fyb2
|
UTSW |
4 |
104,852,975 (GRCm39) |
missense |
probably damaging |
0.97 |
R6582:Fyb2
|
UTSW |
4 |
104,802,739 (GRCm39) |
missense |
probably benign |
0.00 |
R6719:Fyb2
|
UTSW |
4 |
104,867,656 (GRCm39) |
missense |
probably benign |
0.07 |
R7484:Fyb2
|
UTSW |
4 |
104,870,499 (GRCm39) |
missense |
probably benign |
0.01 |
R7534:Fyb2
|
UTSW |
4 |
104,856,545 (GRCm39) |
nonsense |
probably null |
|
R7590:Fyb2
|
UTSW |
4 |
104,802,443 (GRCm39) |
missense |
probably benign |
0.01 |
R7699:Fyb2
|
UTSW |
4 |
104,867,651 (GRCm39) |
missense |
probably benign |
0.07 |
R7700:Fyb2
|
UTSW |
4 |
104,867,651 (GRCm39) |
missense |
probably benign |
0.07 |
R8041:Fyb2
|
UTSW |
4 |
104,857,681 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8298:Fyb2
|
UTSW |
4 |
104,806,028 (GRCm39) |
missense |
probably damaging |
0.99 |
R8300:Fyb2
|
UTSW |
4 |
104,857,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R8755:Fyb2
|
UTSW |
4 |
104,861,086 (GRCm39) |
missense |
unknown |
|
R8817:Fyb2
|
UTSW |
4 |
104,802,652 (GRCm39) |
missense |
probably benign |
0.06 |
R8873:Fyb2
|
UTSW |
4 |
104,856,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R8914:Fyb2
|
UTSW |
4 |
104,857,700 (GRCm39) |
missense |
probably benign |
0.09 |
R9224:Fyb2
|
UTSW |
4 |
104,853,105 (GRCm39) |
missense |
probably benign |
0.44 |
R9434:Fyb2
|
UTSW |
4 |
104,847,534 (GRCm39) |
missense |
probably damaging |
0.99 |
R9512:Fyb2
|
UTSW |
4 |
104,853,100 (GRCm39) |
missense |
probably benign |
0.00 |
R9589:Fyb2
|
UTSW |
4 |
104,872,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R9634:Fyb2
|
UTSW |
4 |
104,856,579 (GRCm39) |
nonsense |
probably null |
|
R9758:Fyb2
|
UTSW |
4 |
104,802,961 (GRCm39) |
missense |
probably benign |
0.01 |
X0018:Fyb2
|
UTSW |
4 |
104,802,407 (GRCm39) |
missense |
probably benign |
0.04 |
Z1176:Fyb2
|
UTSW |
4 |
104,770,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGACTCCTTAGCACTCAG -3'
(R):5'- CTTTAAAACAGTCTGGCAGTGAAG -3'
Sequencing Primer
(F):5'- ACTCTGGTAAGATGTGAGGTCTAGC -3'
(R):5'- TCTGGCAGTGAAGAGAGTCC -3'
|
Posted On |
2018-07-24 |