Incidental Mutation 'R9434:Fyb2'
| ID |
713161 |
| 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: 0.083)
|
| Stock # |
R9434 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
104770653-104874060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104847534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 518
(T518M)
|
| 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: T518M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102415
Gene: ENSMUSG00000078612
AA Change: T518M
| 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 |
possibly damaging
Transcript: ENSMUST00000106804
AA Change: T454M
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102416
Gene: ENSMUSG00000078612
AA Change: T454M
| 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: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,133,284 (GRCm39) |
I251V |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,666,292 (GRCm39) |
|
probably benign |
Het |
| Adipoq |
A |
G |
16: 22,965,697 (GRCm39) |
|
probably benign |
Het |
| Adnp |
C |
T |
2: 168,026,377 (GRCm39) |
R306Q |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,829 (GRCm39) |
N1519K |
|
Het |
| Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
| Cdc14a |
T |
C |
3: 116,217,092 (GRCm39) |
M15V |
probably benign |
Het |
| Cgn |
T |
C |
3: 94,672,837 (GRCm39) |
D947G |
probably damaging |
Het |
| Crhr2 |
A |
T |
6: 55,069,512 (GRCm39) |
F381I |
probably damaging |
Het |
| Dmxl1 |
G |
T |
18: 50,010,788 (GRCm39) |
A982S |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,899,863 (GRCm39) |
V4375A |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,479,227 (GRCm39) |
E259G |
possibly damaging |
Het |
| Erbb4 |
T |
C |
1: 68,081,773 (GRCm39) |
D1087G |
possibly damaging |
Het |
| Fcgr2b |
A |
T |
1: 170,793,385 (GRCm39) |
S215T |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,816,702 (GRCm39) |
Y4145F |
possibly damaging |
Het |
| Galk1 |
C |
T |
11: 115,903,494 (GRCm39) |
W4* |
probably null |
Het |
| Gmds |
C |
A |
13: 32,284,369 (GRCm39) |
D248Y |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,853,846 (GRCm39) |
F631I |
probably benign |
Het |
| Hhla1 |
T |
C |
15: 65,839,226 (GRCm39) |
K55E |
possibly damaging |
Het |
| Il17rb |
T |
C |
14: 29,728,054 (GRCm39) |
E51G |
probably damaging |
Het |
| Ildr1 |
T |
A |
16: 36,529,862 (GRCm39) |
L83Q |
probably damaging |
Het |
| Ints9 |
A |
G |
14: 65,245,506 (GRCm39) |
I255V |
probably benign |
Het |
| Itga9 |
G |
T |
9: 118,636,315 (GRCm39) |
D668Y |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Klhl35 |
A |
G |
7: 99,119,547 (GRCm39) |
Y344C |
probably damaging |
Het |
| Klra4 |
A |
G |
6: 130,040,083 (GRCm39) |
V63A |
possibly damaging |
Het |
| Lgr4 |
A |
G |
2: 109,836,907 (GRCm39) |
T414A |
probably benign |
Het |
| Lmbrd2 |
C |
T |
15: 9,157,314 (GRCm39) |
T184M |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,381,689 (GRCm39) |
D3795G |
possibly damaging |
Het |
| N6amt1 |
T |
A |
16: 87,159,421 (GRCm39) |
L109Q |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,365,755 (GRCm39) |
C215R |
probably benign |
Het |
| Ngef |
G |
A |
1: 87,408,315 (GRCm39) |
S584F |
possibly damaging |
Het |
| Notch4 |
T |
C |
17: 34,801,673 (GRCm39) |
C1174R |
probably damaging |
Het |
| Opa1 |
T |
C |
16: 29,404,874 (GRCm39) |
I24T |
probably benign |
Het |
| Or10v1 |
A |
C |
19: 11,873,393 (GRCm39) |
I3L |
probably benign |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,662 (GRCm39) |
I49F |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,591,254 (GRCm39) |
E19G |
probably benign |
Het |
| Or4a15 |
A |
G |
2: 89,193,692 (GRCm39) |
V27A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,542,512 (GRCm39) |
V1223A |
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,933,492 (GRCm39) |
K118R |
unknown |
Het |
| Plcd1 |
A |
T |
9: 118,905,231 (GRCm39) |
M186K |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Sumf1 |
A |
T |
6: 108,130,096 (GRCm39) |
C233S |
possibly damaging |
Het |
| Tbc1d12 |
A |
G |
19: 38,902,461 (GRCm39) |
K540R |
probably benign |
Het |
| Tmem150c |
T |
C |
5: 100,240,643 (GRCm39) |
N73S |
probably damaging |
Het |
| Tpra1 |
T |
C |
6: 88,888,774 (GRCm39) |
S319P |
probably benign |
Het |
| Ttk |
C |
A |
9: 83,750,143 (GRCm39) |
Y699* |
probably null |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,790 (GRCm39) |
L143* |
probably null |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,745 (GRCm39) |
V825A |
possibly damaging |
Het |
| Zpld2 |
T |
G |
4: 133,929,553 (GRCm39) |
T251P |
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 |
|
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 |
|
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'- AAGGAACCGAGTTGGCAGTC -3'
(R):5'- TGACATGCTGTTGGACCTGG -3'
Sequencing Primer
(F):5'- AGTCAGCCCCAGCAGTG -3'
(R):5'- CACACATGTGTAGACTTGAACTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation