Incidental Mutation 'R5769:Fyb2'
ID |
446422 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fyb2
|
Ensembl Gene |
ENSMUSG00000078612 |
Gene Name |
FYN binding protein 2 |
Synonyms |
1700024P16Rik |
MMRRC Submission |
043369-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R5769 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
104770653-104874060 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104872841 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 738
(V738E)
|
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: V738E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102415 Gene: ENSMUSG00000078612 AA Change: V738E
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: V674E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102416 Gene: ENSMUSG00000078612 AA Change: V674E
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 |
|
Meta Mutation Damage Score |
0.2104 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
T |
A |
5: 138,644,595 (GRCm39) |
V160E |
possibly damaging |
Het |
Abcb1a |
A |
C |
5: 8,733,426 (GRCm39) |
E106A |
probably benign |
Het |
Acap3 |
A |
T |
4: 155,986,857 (GRCm39) |
D371V |
probably damaging |
Het |
Ahi1 |
T |
C |
10: 20,835,981 (GRCm39) |
|
probably null |
Het |
Coq8a |
A |
G |
1: 180,006,681 (GRCm39) |
Y69H |
probably damaging |
Het |
Defb33 |
T |
A |
8: 21,387,543 (GRCm39) |
F27I |
possibly damaging |
Het |
Dhx29 |
T |
A |
13: 113,090,251 (GRCm39) |
L776Q |
probably damaging |
Het |
Dnah3 |
G |
A |
7: 119,689,175 (GRCm39) |
R80* |
probably null |
Het |
Dtna |
A |
T |
18: 23,784,611 (GRCm39) |
D646V |
probably benign |
Het |
Eml5 |
T |
A |
12: 98,756,878 (GRCm39) |
D1964V |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,238,271 (GRCm39) |
N575K |
probably damaging |
Het |
Fbxo38 |
G |
A |
18: 62,648,036 (GRCm39) |
P834L |
probably benign |
Het |
Gcm1 |
A |
G |
9: 77,972,249 (GRCm39) |
T397A |
probably benign |
Het |
Gins1 |
A |
T |
2: 150,767,918 (GRCm39) |
E149D |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Grin2a |
C |
T |
16: 9,579,390 (GRCm39) |
R291K |
possibly damaging |
Het |
Hdac10 |
T |
C |
15: 89,007,819 (GRCm39) |
M646V |
probably benign |
Het |
Hes6 |
G |
T |
1: 91,340,671 (GRCm39) |
R38S |
probably damaging |
Het |
Hipk3 |
G |
A |
2: 104,265,298 (GRCm39) |
P667S |
possibly damaging |
Het |
Jrk |
T |
C |
15: 74,577,917 (GRCm39) |
Q456R |
probably benign |
Het |
Klf18 |
A |
C |
4: 117,586,162 (GRCm39) |
|
probably benign |
Het |
Loxl3 |
A |
G |
6: 83,027,581 (GRCm39) |
T708A |
probably damaging |
Het |
Lyg1 |
T |
C |
1: 37,989,831 (GRCm39) |
S19G |
unknown |
Het |
Magel2 |
T |
A |
7: 62,027,861 (GRCm39) |
M255K |
probably benign |
Het |
Mctp1 |
A |
G |
13: 76,907,927 (GRCm39) |
D242G |
probably damaging |
Het |
Med13 |
A |
T |
11: 86,236,829 (GRCm39) |
N109K |
probably benign |
Het |
Mms19 |
A |
G |
19: 41,952,825 (GRCm39) |
F95L |
probably damaging |
Het |
Nav1 |
A |
G |
1: 135,379,995 (GRCm39) |
L1569P |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,220,747 (GRCm39) |
E940G |
probably benign |
Het |
Oas1d |
T |
C |
5: 121,054,917 (GRCm39) |
F163S |
probably benign |
Het |
Odf2l |
A |
G |
3: 144,841,492 (GRCm39) |
K304R |
possibly damaging |
Het |
Otud3 |
T |
A |
4: 138,625,421 (GRCm39) |
N211I |
possibly damaging |
Het |
Pabpc6 |
A |
T |
17: 9,886,772 (GRCm39) |
L593* |
probably null |
Het |
Pdcd11 |
T |
A |
19: 47,091,076 (GRCm39) |
L350Q |
possibly damaging |
Het |
Pdia4 |
A |
G |
6: 47,792,446 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
G |
A |
9: 98,975,212 (GRCm39) |
Q223* |
probably null |
Het |
Plb1 |
G |
A |
5: 32,474,866 (GRCm39) |
V696M |
probably benign |
Het |
Ppp2r5a |
T |
C |
1: 191,104,863 (GRCm39) |
D61G |
probably benign |
Het |
Preb |
G |
T |
5: 31,115,635 (GRCm39) |
Y87* |
probably null |
Het |
Rdh16f2 |
A |
T |
10: 127,712,758 (GRCm39) |
N252I |
probably benign |
Het |
Rida |
T |
C |
15: 34,484,704 (GRCm39) |
|
probably benign |
Het |
Rxrb |
T |
C |
17: 34,251,821 (GRCm39) |
|
probably benign |
Het |
Sis |
T |
A |
3: 72,835,568 (GRCm39) |
K931N |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,158,994 (GRCm39) |
|
probably benign |
Het |
Srp68 |
A |
G |
11: 116,137,495 (GRCm39) |
S525P |
probably damaging |
Het |
Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
Synj1 |
A |
G |
16: 90,735,141 (GRCm39) |
|
probably benign |
Het |
Syt12 |
T |
C |
19: 4,501,072 (GRCm39) |
Y326C |
probably damaging |
Het |
Tesk2 |
A |
G |
4: 116,659,512 (GRCm39) |
|
probably null |
Het |
Tmem41b |
G |
A |
7: 109,577,945 (GRCm39) |
T113I |
possibly damaging |
Het |
Tmtc2 |
T |
C |
10: 105,205,907 (GRCm39) |
I463V |
probably benign |
Het |
Trak1 |
A |
T |
9: 121,277,904 (GRCm39) |
D320V |
probably damaging |
Het |
Ushbp1 |
A |
T |
8: 71,838,863 (GRCm39) |
N570K |
probably benign |
Het |
Vmn1r33 |
T |
A |
6: 66,588,817 (GRCm39) |
I246F |
possibly damaging |
Het |
Vmn2r54 |
A |
C |
7: 12,349,209 (GRCm39) |
L791R |
possibly damaging |
Het |
Washc1 |
A |
T |
17: 66,425,111 (GRCm39) |
T372S |
probably benign |
Het |
Zfp1005 |
A |
G |
2: 150,110,198 (GRCm39) |
E296G |
possibly 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 |
104,870,518 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAGTTCCACTGTAATATCCCC -3'
(R):5'- AACGAGCACATATCCATCTGTAG -3'
Sequencing Primer
(F):5'- ATCCCCATCATTTATTTTGTCCATG -3'
(R):5'- ACTCACTTTAGTAACCTGAGAGTTC -3'
|
Posted On |
2016-11-21 |