Incidental Mutation 'R9739:Fyb1'
ID |
731773 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fyb1
|
Ensembl Gene |
ENSMUSG00000022148 |
Gene Name |
FYN binding protein 1 |
Synonyms |
B630013F22Rik, Fyb, ADAP, FYB-120/130 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9739 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
6552334-6692794 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6670063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 594
(N594S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090461]
|
AlphaFold |
O35601 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090461
AA Change: N594S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000087947 Gene: ENSMUSG00000022148 AA Change: N594S
Domain | Start | End | E-Value | Type |
low complexity region
|
67 |
85 |
N/A |
INTRINSIC |
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
low complexity region
|
236 |
246 |
N/A |
INTRINSIC |
low complexity region
|
335 |
353 |
N/A |
INTRINSIC |
low complexity region
|
371 |
409 |
N/A |
INTRINSIC |
low complexity region
|
440 |
451 |
N/A |
INTRINSIC |
low complexity region
|
457 |
494 |
N/A |
INTRINSIC |
SH3
|
502 |
559 |
1.24e-3 |
SMART |
low complexity region
|
611 |
626 |
N/A |
INTRINSIC |
Pfam:hSH3
|
731 |
819 |
2.9e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163073
|
SMART Domains |
Protein: ENSMUSP00000123895 Gene: ENSMUSG00000022148
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
Pfam:hSH3
|
86 |
170 |
4.1e-42 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is an adapter molecule that affects T cell receptor signaling and contains multiple protein-protein interaction domains. It is thought to couple T cell receptor stimulation with activation of integrin function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] PHENOTYPE: Mice homozygous for a null allele exhibit decreased T cell proliferation, thymocytes and platelet counts and decreased TCR-stimulated leukocyte adhesion. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
C |
T |
1: 25,592,849 (GRCm39) |
V313M |
probably damaging |
Het |
Alg6 |
G |
A |
4: 99,650,195 (GRCm39) |
V472I |
possibly damaging |
Het |
Atp8b2 |
A |
G |
3: 89,853,403 (GRCm39) |
V728A |
probably benign |
Het |
Bach2 |
T |
A |
4: 32,563,042 (GRCm39) |
I503N |
probably damaging |
Het |
Bend3 |
T |
C |
10: 43,385,847 (GRCm39) |
L80P |
possibly damaging |
Het |
Casq1 |
T |
C |
1: 172,043,051 (GRCm39) |
D215G |
possibly damaging |
Het |
Ccdc175 |
A |
T |
12: 72,186,792 (GRCm39) |
Y351N |
probably benign |
Het |
Cd200r4 |
A |
T |
16: 44,641,142 (GRCm39) |
|
probably benign |
Het |
Ctnnal1 |
T |
C |
4: 56,816,200 (GRCm39) |
D621G |
probably damaging |
Het |
Esco1 |
T |
A |
18: 10,594,218 (GRCm39) |
H356L |
probably benign |
Het |
Fhod1 |
C |
T |
8: 106,064,378 (GRCm39) |
V191M |
unknown |
Het |
Fhod3 |
T |
C |
18: 24,903,566 (GRCm39) |
L100P |
probably damaging |
Het |
Fkbp4 |
T |
C |
6: 128,410,728 (GRCm39) |
R234G |
probably benign |
Het |
Flnb |
A |
T |
14: 7,935,954 (GRCm38) |
K2265* |
probably null |
Het |
Fsip2 |
T |
C |
2: 82,823,896 (GRCm39) |
F6543S |
possibly damaging |
Het |
Gm17019 |
G |
A |
5: 15,082,841 (GRCm39) |
R38* |
probably null |
Het |
Gm37240 |
A |
G |
3: 84,417,113 (GRCm39) |
|
probably null |
Het |
Gm9195 |
C |
T |
14: 72,690,264 (GRCm39) |
D1820N |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,520,229 (GRCm39) |
V729A |
probably benign |
Het |
Or8g21 |
G |
T |
9: 38,906,302 (GRCm39) |
S143* |
probably null |
Het |
Or9s18 |
T |
C |
13: 65,300,442 (GRCm39) |
S135P |
probably damaging |
Het |
Pde12 |
T |
C |
14: 26,386,757 (GRCm39) |
T584A |
possibly damaging |
Het |
Pfkfb2 |
T |
C |
1: 130,624,815 (GRCm39) |
Q515R |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,420,708 (GRCm39) |
N2466S |
probably damaging |
Het |
Plcd1 |
A |
G |
9: 118,901,195 (GRCm39) |
V720A |
possibly damaging |
Het |
Pramel24 |
T |
A |
4: 143,454,997 (GRCm39) |
F432I |
possibly damaging |
Het |
Rapgef6 |
A |
G |
11: 54,513,189 (GRCm39) |
T285A |
probably benign |
Het |
Scyl3 |
T |
C |
1: 163,771,419 (GRCm39) |
F255S |
probably damaging |
Het |
Sfrp5 |
T |
A |
19: 42,188,247 (GRCm39) |
M191L |
probably benign |
Het |
Snrpf |
C |
T |
10: 93,419,390 (GRCm39) |
C66Y |
probably benign |
Het |
Syngr2 |
T |
A |
11: 117,703,298 (GRCm39) |
I38N |
probably damaging |
Het |
Thap1 |
C |
T |
8: 26,650,990 (GRCm39) |
H87Y |
probably benign |
Het |
Tubgcp3 |
A |
G |
8: 12,699,744 (GRCm39) |
Y370H |
probably benign |
Het |
Usp17la |
A |
T |
7: 104,510,736 (GRCm39) |
N447I |
possibly damaging |
Het |
Zfp532 |
C |
T |
18: 65,757,894 (GRCm39) |
T609M |
probably benign |
Het |
|
Other mutations in Fyb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00417:Fyb1
|
APN |
15 |
6,610,258 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00801:Fyb1
|
APN |
15 |
6,674,305 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL00974:Fyb1
|
APN |
15 |
6,672,066 (GRCm39) |
unclassified |
probably benign |
|
IGL01377:Fyb1
|
APN |
15 |
6,609,801 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01982:Fyb1
|
APN |
15 |
6,609,658 (GRCm39) |
missense |
probably null |
0.99 |
IGL02173:Fyb1
|
APN |
15 |
6,610,176 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02177:Fyb1
|
APN |
15 |
6,688,047 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02345:Fyb1
|
APN |
15 |
6,649,143 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02695:Fyb1
|
APN |
15 |
6,610,402 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02820:Fyb1
|
APN |
15 |
6,688,040 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02867:Fyb1
|
APN |
15 |
6,609,527 (GRCm39) |
missense |
probably damaging |
1.00 |
baddie
|
UTSW |
15 |
6,681,972 (GRCm39) |
missense |
probably damaging |
1.00 |
luegner
|
UTSW |
15 |
6,610,350 (GRCm39) |
nonsense |
probably null |
|
uebeltaeter
|
UTSW |
15 |
6,668,388 (GRCm39) |
missense |
probably damaging |
1.00 |
P0023:Fyb1
|
UTSW |
15 |
6,681,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R0028:Fyb1
|
UTSW |
15 |
6,674,395 (GRCm39) |
intron |
probably benign |
|
R0364:Fyb1
|
UTSW |
15 |
6,610,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R0507:Fyb1
|
UTSW |
15 |
6,664,297 (GRCm39) |
missense |
probably benign |
0.39 |
R0588:Fyb1
|
UTSW |
15 |
6,609,940 (GRCm39) |
missense |
probably benign |
0.03 |
R0742:Fyb1
|
UTSW |
15 |
6,664,297 (GRCm39) |
missense |
probably benign |
0.39 |
R0930:Fyb1
|
UTSW |
15 |
6,668,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R1184:Fyb1
|
UTSW |
15 |
6,668,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R1446:Fyb1
|
UTSW |
15 |
6,681,947 (GRCm39) |
missense |
probably benign |
0.02 |
R1481:Fyb1
|
UTSW |
15 |
6,649,128 (GRCm39) |
missense |
probably benign |
0.01 |
R1711:Fyb1
|
UTSW |
15 |
6,609,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R2041:Fyb1
|
UTSW |
15 |
6,674,268 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2176:Fyb1
|
UTSW |
15 |
6,609,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R2224:Fyb1
|
UTSW |
15 |
6,681,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R2372:Fyb1
|
UTSW |
15 |
6,681,388 (GRCm39) |
splice site |
probably benign |
|
R3236:Fyb1
|
UTSW |
15 |
6,659,597 (GRCm39) |
missense |
probably damaging |
0.96 |
R4117:Fyb1
|
UTSW |
15 |
6,659,597 (GRCm39) |
missense |
probably damaging |
0.96 |
R4181:Fyb1
|
UTSW |
15 |
6,610,404 (GRCm39) |
missense |
probably benign |
0.00 |
R4322:Fyb1
|
UTSW |
15 |
6,610,300 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4952:Fyb1
|
UTSW |
15 |
6,668,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R4981:Fyb1
|
UTSW |
15 |
6,676,092 (GRCm39) |
splice site |
probably benign |
|
R5055:Fyb1
|
UTSW |
15 |
6,614,630 (GRCm39) |
unclassified |
probably benign |
|
R5368:Fyb1
|
UTSW |
15 |
6,610,159 (GRCm39) |
splice site |
probably null |
|
R5719:Fyb1
|
UTSW |
15 |
6,610,350 (GRCm39) |
nonsense |
probably null |
|
R5822:Fyb1
|
UTSW |
15 |
6,692,707 (GRCm39) |
unclassified |
probably benign |
|
R6064:Fyb1
|
UTSW |
15 |
6,668,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R6929:Fyb1
|
UTSW |
15 |
6,668,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R7125:Fyb1
|
UTSW |
15 |
6,674,337 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7243:Fyb1
|
UTSW |
15 |
6,673,180 (GRCm39) |
missense |
probably benign |
0.19 |
R7748:Fyb1
|
UTSW |
15 |
6,668,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R7750:Fyb1
|
UTSW |
15 |
6,690,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R7902:Fyb1
|
UTSW |
15 |
6,690,197 (GRCm39) |
critical splice donor site |
probably null |
|
R8182:Fyb1
|
UTSW |
15 |
6,681,293 (GRCm39) |
missense |
probably benign |
|
R8841:Fyb1
|
UTSW |
15 |
6,681,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R9103:Fyb1
|
UTSW |
15 |
6,673,232 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9256:Fyb1
|
UTSW |
15 |
6,674,358 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9385:Fyb1
|
UTSW |
15 |
6,664,297 (GRCm39) |
missense |
probably benign |
0.39 |
Z1088:Fyb1
|
UTSW |
15 |
6,688,021 (GRCm39) |
missense |
probably benign |
0.41 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTCTAAACTCCAGGTGCC -3'
(R):5'- CCCACTGTGTTTCAAATAGCAC -3'
Sequencing Primer
(F):5'- TAAACTCCAGGTGCCCGGAC -3'
(R):5'- ACATGATGTGTGTGGCCAAC -3'
|
Posted On |
2022-11-14 |