Incidental Mutation 'R9589:Fyb2'
| ID |
722923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fyb2
|
| Ensembl Gene |
ENSMUSG00000078612 |
| Gene Name |
FYN binding protein 2 |
| Synonyms |
1700024P16Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R9589 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
104770653-104874060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 104872833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 735
(N735K)
|
| 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: N735K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102415
Gene: ENSMUSG00000078612
AA Change: N735K
| 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: N671K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102416
Gene: ENSMUSG00000078612
AA Change: N671K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
G |
8: 95,760,093 (GRCm39) |
D104G |
possibly damaging |
Het |
| Ahnak2 |
G |
T |
12: 112,746,831 (GRCm39) |
D1166E |
|
Het |
| C2cd3 |
T |
A |
7: 100,081,756 (GRCm39) |
S1133T |
|
Het |
| Ccdc17 |
A |
G |
4: 116,454,791 (GRCm39) |
Q168R |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,668,941 (GRCm39) |
I668N |
probably damaging |
Het |
| Gad1 |
T |
C |
2: 70,416,284 (GRCm39) |
S248P |
possibly damaging |
Het |
| Gcnt1 |
G |
A |
19: 17,307,422 (GRCm39) |
A101V |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,372,840 (GRCm39) |
M3132K |
possibly damaging |
Het |
| Htra3 |
T |
C |
5: 35,821,409 (GRCm39) |
I323V |
probably damaging |
Het |
| Ighv11-2 |
A |
T |
12: 114,012,047 (GRCm39) |
V56D |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,237,701 (GRCm39) |
G340R |
probably damaging |
Het |
| Kcnk15 |
C |
T |
2: 163,700,127 (GRCm39) |
T122M |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,956,020 (GRCm39) |
Q658K |
probably benign |
Het |
| Kif13b |
T |
C |
14: 65,013,759 (GRCm39) |
I1303T |
possibly damaging |
Het |
| Kifc3 |
A |
T |
8: 95,861,372 (GRCm39) |
S94R |
possibly damaging |
Het |
| Lrrc63 |
A |
T |
14: 75,322,379 (GRCm39) |
F575Y |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,136,398 (GRCm39) |
S2405P |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,449,753 (GRCm39) |
T159A |
probably benign |
Het |
| Mgam |
A |
T |
6: 40,727,519 (GRCm39) |
I1315F |
probably damaging |
Het |
| Or51a39 |
T |
C |
7: 102,363,372 (GRCm39) |
T83A |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,403,197 (GRCm39) |
F191I |
probably damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,854,918 (GRCm39) |
D51N |
possibly damaging |
Het |
| Ppp4r2 |
C |
T |
6: 100,838,409 (GRCm39) |
T109M |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,525,122 (GRCm39) |
S771P |
possibly damaging |
Het |
| Sec11a |
T |
C |
7: 80,565,899 (GRCm39) |
*171W |
probably null |
Het |
| Secisbp2l |
C |
A |
2: 125,589,425 (GRCm39) |
V708L |
probably benign |
Het |
| Secisbp2l |
T |
G |
2: 125,589,430 (GRCm39) |
D706A |
probably damaging |
Het |
| Shpk |
C |
T |
11: 73,104,267 (GRCm39) |
P139S |
possibly damaging |
Het |
| Slc6a18 |
A |
G |
13: 73,816,323 (GRCm39) |
L352P |
possibly damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,981 (GRCm39) |
T264A |
probably benign |
Het |
| Smg9 |
T |
G |
7: 24,120,246 (GRCm39) |
S407A |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,338 (GRCm39) |
E121G |
probably damaging |
Het |
| Tmem237 |
G |
A |
1: 59,159,146 (GRCm39) |
P10S |
probably benign |
Het |
| Vmn2r73 |
A |
G |
7: 85,519,659 (GRCm39) |
I433T |
probably benign |
Het |
| Zfp28 |
T |
A |
7: 6,392,816 (GRCm39) |
M164K |
probably benign |
Het |
| Zswim8 |
A |
G |
14: 20,763,171 (GRCm39) |
M357V |
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 |
|
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 |
|
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'- AGGGAGTTCCACTGTAATATCCC -3'
(R):5'- GAGCACATATCCATCTGTAGAAAC -3'
Sequencing Primer
(F):5'- ATCCCCATCATTTATTTTGTCCATG -3'
(R):5'- ACTCACTTTAGTAACCTGAGAGTTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation