Incidental Mutation 'R4117:Fyb1'
ID |
368351 |
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 |
040991-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4117 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
6552334-6692794 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 6659597 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 434
(D434A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090461]
[ENSMUST00000160612]
|
AlphaFold |
O35601 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090461
AA Change: D434A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000087947 Gene: ENSMUSG00000022148 AA Change: D434A
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 |
noncoding transcript
Transcript: ENSMUST00000160612
|
SMART Domains |
Protein: ENSMUSP00000124553 Gene: ENSMUSG00000022148
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
65 |
N/A |
INTRINSIC |
low complexity region
|
96 |
107 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160698
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162430
|
Meta Mutation Damage Score |
0.0674 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
97% (31/32) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
T |
C |
2: 155,398,313 (GRCm39) |
F358L |
probably damaging |
Het |
Adamts16 |
A |
G |
13: 70,916,111 (GRCm39) |
Y775H |
probably benign |
Het |
Bard1 |
A |
T |
1: 71,085,922 (GRCm39) |
H594Q |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cenpt |
G |
A |
8: 106,576,332 (GRCm39) |
S73L |
probably benign |
Het |
Ctdnep1 |
C |
A |
11: 69,879,497 (GRCm39) |
A7D |
probably damaging |
Het |
Fam210b |
T |
C |
2: 172,193,486 (GRCm39) |
S100P |
probably benign |
Het |
H2-T15 |
T |
C |
17: 36,368,496 (GRCm39) |
D144G |
probably damaging |
Het |
Heph |
T |
C |
X: 95,544,221 (GRCm39) |
V615A |
probably benign |
Het |
Icam5 |
T |
A |
9: 20,948,886 (GRCm39) |
V746E |
probably damaging |
Het |
Maml2 |
A |
G |
9: 13,617,230 (GRCm39) |
Q192R |
probably damaging |
Het |
Npas4 |
T |
C |
19: 5,037,391 (GRCm39) |
Y301C |
probably damaging |
Het |
Nup205 |
C |
T |
6: 35,217,947 (GRCm39) |
Q1767* |
probably null |
Het |
Or51f5 |
T |
A |
7: 102,423,684 (GRCm39) |
|
probably null |
Het |
Pigg |
A |
G |
5: 108,495,908 (GRCm39) |
R982G |
probably benign |
Het |
Plekhg2 |
A |
T |
7: 28,060,313 (GRCm39) |
H1005Q |
probably benign |
Het |
Rdh12 |
C |
T |
12: 79,260,419 (GRCm39) |
R172C |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Semp2l2b |
T |
A |
10: 21,943,615 (GRCm39) |
N122Y |
probably benign |
Het |
Septin4 |
T |
C |
11: 87,459,108 (GRCm39) |
F494S |
probably damaging |
Het |
Serpinb9 |
T |
A |
13: 33,199,579 (GRCm39) |
D291E |
probably benign |
Het |
She |
A |
T |
3: 89,759,679 (GRCm39) |
Y394F |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,195,249 (GRCm39) |
S830G |
probably damaging |
Het |
Stmn4 |
T |
C |
14: 66,598,581 (GRCm39) |
*217Q |
probably null |
Het |
Stx17 |
A |
G |
4: 48,180,689 (GRCm39) |
D178G |
probably damaging |
Het |
Tbc1d9 |
T |
G |
8: 83,992,776 (GRCm39) |
I960S |
possibly damaging |
Het |
Ubxn10 |
G |
T |
4: 138,448,276 (GRCm39) |
D133E |
probably benign |
Het |
Vmn2r42 |
T |
C |
7: 8,197,839 (GRCm39) |
Y260C |
probably damaging |
Het |
Vmn2r7 |
A |
C |
3: 64,623,138 (GRCm39) |
|
probably benign |
Het |
Zfp143 |
C |
T |
7: 109,691,120 (GRCm39) |
T557I |
probably damaging |
Het |
Zfp607b |
A |
G |
7: 27,398,107 (GRCm39) |
I64V |
probably damaging |
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 |
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 |
R9739:Fyb1
|
UTSW |
15 |
6,670,063 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Fyb1
|
UTSW |
15 |
6,688,021 (GRCm39) |
missense |
probably benign |
0.41 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTTTGCCTACCACCTCAG -3'
(R):5'- GCACACTGAGTGTTGTAGGATG -3'
Sequencing Primer
(F):5'- AGAAGATTCTCTGCCTCCTGAAG -3'
(R):5'- CACACTGAGTGTTGTAGGATGTTGTC -3'
|
Posted On |
2016-01-29 |