Incidental Mutation 'IGL03189:Fyb2'
ID |
412557 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fyb2
|
Ensembl Gene |
ENSMUSG00000078612 |
Gene Name |
FYN binding protein 2 |
Synonyms |
1700024P16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
IGL03189
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
104770653-104874060 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104872939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 771
(I771V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102415
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106803]
[ENSMUST00000106804]
|
AlphaFold |
A2A995 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106803
AA Change: I771V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102415 Gene: ENSMUSG00000078612 AA Change: I771V
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 damaging
Transcript: ENSMUST00000106804
AA Change: I707V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102416 Gene: ENSMUSG00000078612 AA Change: I707V
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,895,814 (GRCm39) |
T916A |
probably benign |
Het |
Adam22 |
A |
T |
5: 8,161,897 (GRCm39) |
Y50* |
probably null |
Het |
Adprs |
T |
C |
4: 126,211,087 (GRCm39) |
|
probably benign |
Het |
Ahnak |
G |
A |
19: 8,988,603 (GRCm39) |
V3296M |
possibly damaging |
Het |
Bfar |
A |
G |
16: 13,505,365 (GRCm39) |
D125G |
possibly damaging |
Het |
Bmp3 |
A |
T |
5: 99,020,579 (GRCm39) |
Q334L |
probably benign |
Het |
Camsap2 |
A |
T |
1: 136,209,400 (GRCm39) |
D697E |
probably damaging |
Het |
Car11 |
A |
G |
7: 45,351,879 (GRCm39) |
T103A |
probably damaging |
Het |
Cecr2 |
T |
A |
6: 120,739,391 (GRCm39) |
S1373T |
probably benign |
Het |
Cenpm |
A |
G |
15: 82,118,634 (GRCm39) |
V160A |
possibly damaging |
Het |
Chl1 |
A |
T |
6: 103,660,168 (GRCm39) |
I365F |
possibly damaging |
Het |
Col20a1 |
C |
T |
2: 180,651,200 (GRCm39) |
Q1089* |
probably null |
Het |
Csf1r |
A |
T |
18: 61,239,058 (GRCm39) |
T13S |
probably benign |
Het |
Fam13a |
T |
C |
6: 58,933,843 (GRCm39) |
E249G |
probably damaging |
Het |
Fgd6 |
G |
A |
10: 93,880,318 (GRCm39) |
V391I |
probably benign |
Het |
Fhdc1 |
G |
A |
3: 84,362,368 (GRCm39) |
|
probably benign |
Het |
Fn3krp |
T |
C |
11: 121,320,456 (GRCm39) |
I267T |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,890,930 (GRCm39) |
I2820F |
probably benign |
Het |
Gata3os |
A |
G |
2: 9,888,634 (GRCm39) |
|
probably benign |
Het |
Glis1 |
A |
G |
4: 107,472,248 (GRCm39) |
Y275C |
probably damaging |
Het |
Hdgf |
A |
G |
3: 87,820,735 (GRCm39) |
T62A |
possibly damaging |
Het |
Hsd17b3 |
C |
T |
13: 64,210,901 (GRCm39) |
|
probably null |
Het |
Ift56 |
C |
T |
6: 38,402,166 (GRCm39) |
P553S |
probably benign |
Het |
Iqgap1 |
T |
A |
7: 80,363,590 (GRCm39) |
Y1655F |
probably benign |
Het |
Izumo1 |
A |
G |
7: 45,274,588 (GRCm39) |
D181G |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,268,822 (GRCm39) |
|
probably benign |
Het |
Mark1 |
T |
C |
1: 184,651,890 (GRCm39) |
N95S |
probably damaging |
Het |
Mbd5 |
A |
G |
2: 49,147,763 (GRCm39) |
K658E |
probably damaging |
Het |
Mcm6 |
C |
T |
1: 128,272,039 (GRCm39) |
D453N |
probably damaging |
Het |
Mfsd14a |
T |
C |
3: 116,435,504 (GRCm39) |
D187G |
probably benign |
Het |
Mrpl19 |
G |
T |
6: 81,938,974 (GRCm39) |
S276* |
probably null |
Het |
Ncoa2 |
G |
A |
1: 13,260,360 (GRCm39) |
T105M |
probably damaging |
Het |
Nop14 |
A |
G |
5: 34,807,972 (GRCm39) |
|
probably benign |
Het |
Or2ah1 |
A |
G |
2: 85,653,902 (GRCm39) |
T196A |
probably benign |
Het |
Or2aj5 |
T |
C |
16: 19,425,341 (GRCm39) |
T26A |
probably benign |
Het |
Or5w19 |
G |
A |
2: 87,698,559 (GRCm39) |
A75T |
possibly damaging |
Het |
Otud7b |
G |
A |
3: 96,062,795 (GRCm39) |
S678N |
probably benign |
Het |
Pcdhb6 |
G |
A |
18: 37,469,205 (GRCm39) |
V25M |
probably damaging |
Het |
Prpf39 |
G |
T |
12: 65,090,076 (GRCm39) |
G5* |
probably null |
Het |
Serpinb9d |
T |
C |
13: 33,386,895 (GRCm39) |
V321A |
probably damaging |
Het |
Sh2b1 |
A |
G |
7: 126,067,702 (GRCm39) |
S613P |
possibly damaging |
Het |
Snx30 |
T |
C |
4: 59,857,452 (GRCm39) |
I55T |
probably benign |
Het |
Spata13 |
T |
C |
14: 60,929,063 (GRCm39) |
I207T |
possibly damaging |
Het |
Suco |
T |
C |
1: 161,684,906 (GRCm39) |
|
probably benign |
Het |
Svs5 |
A |
G |
2: 164,079,032 (GRCm39) |
S292P |
possibly damaging |
Het |
Tcam1 |
A |
G |
11: 106,176,212 (GRCm39) |
I313V |
probably benign |
Het |
Tmem45a |
A |
T |
16: 56,631,936 (GRCm39) |
Y227* |
probably null |
Het |
Tnfsf15 |
A |
G |
4: 63,648,289 (GRCm39) |
|
probably benign |
Het |
Vmn2r4 |
C |
A |
3: 64,296,589 (GRCm39) |
R732L |
possibly damaging |
Het |
Wdr7 |
C |
T |
18: 63,893,672 (GRCm39) |
T602I |
probably benign |
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 |
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 |
R6713:Fyb2
|
UTSW |
4 |
104,847,432 (GRCm39) |
missense |
probably benign |
0.16 |
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 |
|
Posted On |
2016-08-02 |