Incidental Mutation 'R6582:Fyb2'
ID |
524140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fyb2
|
Ensembl Gene |
ENSMUSG00000078612 |
Gene Name |
FYN binding protein 2 |
Synonyms |
1700024P16Rik |
MMRRC Submission |
044706-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R6582 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
104770653-104874060 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104802739 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 214
(N214D)
|
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: N214D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000102415 Gene: ENSMUSG00000078612 AA Change: N214D
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: N150D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102416 Gene: ENSMUSG00000078612 AA Change: N150D
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: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,297,384 (GRCm39) |
T2369A |
probably benign |
Het |
Abhd6 |
T |
G |
14: 8,042,828 (GRCm38) |
|
probably null |
Het |
Abhd6 |
G |
T |
14: 8,042,826 (GRCm38) |
G128C |
probably damaging |
Het |
Acsm3 |
A |
G |
7: 119,378,896 (GRCm39) |
E426G |
probably benign |
Het |
Ankrd11 |
T |
C |
8: 123,618,368 (GRCm39) |
D1828G |
probably benign |
Het |
Asmt |
T |
A |
X: 169,108,766 (GRCm39) |
|
probably null |
Het |
Casp4 |
A |
G |
9: 5,324,884 (GRCm39) |
Q232R |
probably benign |
Het |
Cenpt |
A |
T |
8: 106,575,833 (GRCm39) |
L171* |
probably null |
Het |
Chd3 |
AGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGG |
11: 69,259,982 (GRCm39) |
|
probably benign |
Het |
Col5a2 |
G |
T |
1: 45,429,275 (GRCm39) |
H948N |
possibly damaging |
Het |
Dnah9 |
G |
T |
11: 65,951,923 (GRCm39) |
H1859N |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,664,104 (GRCm39) |
R1993Q |
probably benign |
Het |
Fbxw8 |
C |
A |
5: 118,263,028 (GRCm39) |
R217L |
probably benign |
Het |
Flnb |
T |
G |
14: 7,892,275 (GRCm38) |
|
probably null |
Het |
Gbp2b |
A |
G |
3: 142,316,801 (GRCm39) |
E484G |
possibly damaging |
Het |
Gzmk |
A |
G |
13: 113,317,045 (GRCm39) |
Y45H |
probably damaging |
Het |
Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
Kcnj6 |
A |
G |
16: 94,633,685 (GRCm39) |
V142A |
possibly damaging |
Het |
Klri2 |
A |
T |
6: 129,716,096 (GRCm39) |
I81K |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,710,897 (GRCm39) |
V3144E |
probably damaging |
Het |
Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
Mbd3l1 |
T |
C |
9: 18,396,024 (GRCm39) |
Y50H |
probably benign |
Het |
Mcat |
T |
C |
15: 83,433,383 (GRCm39) |
N220S |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,282,941 (GRCm39) |
E81G |
probably benign |
Het |
Neto1 |
A |
T |
18: 86,512,985 (GRCm39) |
K327* |
probably null |
Het |
Or10j3 |
G |
T |
1: 173,031,847 (GRCm39) |
R308L |
probably benign |
Het |
Or4a67 |
A |
T |
2: 88,598,587 (GRCm39) |
L24Q |
probably damaging |
Het |
Or52p1 |
A |
T |
7: 104,267,648 (GRCm39) |
Y254F |
probably damaging |
Het |
Or52u1 |
T |
C |
7: 104,237,218 (GRCm39) |
L69P |
probably damaging |
Het |
Pidd1 |
A |
T |
7: 141,019,494 (GRCm39) |
V722D |
probably damaging |
Het |
Ppp2r2a |
G |
T |
14: 67,257,253 (GRCm39) |
H326N |
probably damaging |
Het |
Smarca5 |
G |
A |
8: 81,446,281 (GRCm39) |
T473I |
probably damaging |
Het |
Spg11 |
C |
A |
2: 121,922,773 (GRCm39) |
W892L |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,248 (GRCm39) |
I93N |
possibly damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Vmn1r71 |
T |
A |
7: 10,482,608 (GRCm39) |
I27F |
probably benign |
Het |
Vsnl1 |
A |
G |
12: 11,376,489 (GRCm39) |
V132A |
probably benign |
Het |
Wdsub1 |
T |
C |
2: 59,708,652 (GRCm39) |
T74A |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
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 |
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'- GGCTCAGGGAGATGAACTTCAG -3'
(R):5'- ATACACTGGAGGCTTTGGAGG -3'
Sequencing Primer
(F):5'- AAGACTTCAAGTTCCTCGGG -3'
(R):5'- AGGTCACGGGTGATTTTCTC -3'
|
Posted On |
2018-06-22 |