Incidental Mutation 'R6064:Fyb1'
| ID |
483985 |
| 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 |
044228-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6064 (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 C
at 6668349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 514
(K514T)
|
| 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: K514T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: K514T
| 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 |
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: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
C |
T |
5: 50,117,667 (GRCm39) |
D1294N |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,150,029 (GRCm39) |
T92A |
probably benign |
Het |
| Bach1 |
A |
G |
16: 87,526,752 (GRCm39) |
D738G |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,954,065 (GRCm39) |
F278L |
probably damaging |
Het |
| Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
| Cmya5 |
T |
A |
13: 93,226,157 (GRCm39) |
N2977I |
probably damaging |
Het |
| Cnbd1 |
T |
A |
4: 18,895,084 (GRCm39) |
E219D |
probably benign |
Het |
| Dst |
A |
G |
1: 34,233,132 (GRCm39) |
D3556G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,151,243 (GRCm39) |
E306G |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,229,605 (GRCm39) |
F135L |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,434,223 (GRCm39) |
C280S |
possibly damaging |
Het |
| Lrig1 |
T |
C |
6: 94,603,428 (GRCm39) |
E240G |
probably damaging |
Het |
| Macc1 |
A |
T |
12: 119,409,400 (GRCm39) |
H56L |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Muc6 |
T |
C |
7: 141,234,640 (GRCm39) |
R696G |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,032,273 (GRCm39) |
I32V |
probably benign |
Het |
| Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
| Or5d16 |
A |
G |
2: 87,773,828 (GRCm39) |
M48T |
probably benign |
Het |
| Or5h17 |
T |
G |
16: 58,820,186 (GRCm39) |
I46S |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,395,779 (GRCm39) |
T80A |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,418 (GRCm39) |
Y447N |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,958 (GRCm39) |
T1126A |
probably benign |
Het |
| Scgb1b10 |
T |
C |
7: 31,800,627 (GRCm39) |
L72S |
probably damaging |
Het |
| Slc25a33 |
A |
G |
4: 149,836,921 (GRCm39) |
V141A |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,737 (GRCm39) |
Y76C |
probably damaging |
Het |
| Tmem235 |
T |
C |
11: 117,753,764 (GRCm39) |
V107A |
possibly damaging |
Het |
| Vnn1 |
G |
T |
10: 23,770,807 (GRCm39) |
A12S |
probably benign |
Het |
| Zfp606 |
T |
G |
7: 12,214,960 (GRCm39) |
W63G |
possibly damaging |
Het |
| Zfp788 |
T |
A |
7: 41,297,878 (GRCm39) |
F119L |
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 |
|
|
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'- ACACTGTGTCTGCCTTAACCC -3'
(R):5'- TTTGAATCGGGGAAGAGCTGG -3'
Sequencing Primer
(F):5'- GTCTGCCTTAACCCCTTTAATAAGAG -3'
(R):5'- GGAAGGTGACTATGATCAAAACATG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation