Incidental Mutation 'R2176:Fyb1'
ID |
236905 |
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 |
040178-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2176 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
6552334-6692794 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6609435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 3
(K3E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090461]
[ENSMUST00000226412]
[ENSMUST00000227175]
|
AlphaFold |
O35601 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090461
AA Change: K3E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000087947 Gene: ENSMUSG00000022148 AA Change: K3E
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: ENSMUST00000159714
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226412
AA Change: K13E
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227175
AA Change: K3E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.1011 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (64/64) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
T |
A |
5: 121,657,649 (GRCm39) |
Y548F |
probably benign |
Het |
Armc9 |
T |
C |
1: 86,127,614 (GRCm39) |
L83P |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,344 (GRCm39) |
|
probably benign |
Het |
Casp3 |
A |
G |
8: 47,082,791 (GRCm39) |
N3S |
probably damaging |
Het |
Ccdc174 |
G |
A |
6: 91,865,070 (GRCm39) |
M109I |
probably benign |
Het |
Ccr6 |
T |
A |
17: 8,475,073 (GRCm39) |
F93I |
probably damaging |
Het |
Clvs2 |
T |
C |
10: 33,471,811 (GRCm39) |
S165G |
probably damaging |
Het |
Cntnap5c |
T |
C |
17: 58,320,941 (GRCm39) |
V171A |
probably benign |
Het |
Dennd5a |
C |
A |
7: 109,504,327 (GRCm39) |
|
probably null |
Het |
Dock2 |
T |
A |
11: 34,586,044 (GRCm39) |
Y546F |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,158,401 (GRCm39) |
|
probably null |
Het |
Focad |
T |
A |
4: 88,197,481 (GRCm39) |
Y625N |
unknown |
Het |
Gm14496 |
G |
A |
2: 181,633,130 (GRCm39) |
D38N |
probably benign |
Het |
Gm20403 |
T |
C |
12: 55,033,155 (GRCm39) |
T54A |
probably benign |
Het |
Gm9830 |
A |
G |
9: 44,375,556 (GRCm39) |
|
noncoding transcript |
Het |
Hectd1 |
A |
T |
12: 51,792,277 (GRCm39) |
S2487R |
probably damaging |
Het |
Il5ra |
A |
G |
6: 106,715,233 (GRCm39) |
L175S |
probably benign |
Het |
Inhca |
A |
G |
9: 103,136,566 (GRCm39) |
|
probably benign |
Het |
Itgav |
C |
T |
2: 83,633,599 (GRCm39) |
R983C |
probably damaging |
Het |
Kcna10 |
T |
C |
3: 107,102,032 (GRCm39) |
V221A |
probably damaging |
Het |
Kif13b |
G |
A |
14: 64,907,120 (GRCm39) |
V35I |
probably benign |
Het |
Kif6 |
G |
A |
17: 50,062,258 (GRCm39) |
E473K |
probably damaging |
Het |
Mfsd14a |
T |
C |
3: 116,426,042 (GRCm39) |
T452A |
probably benign |
Het |
Mllt1 |
A |
G |
17: 57,204,398 (GRCm39) |
S382P |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,757,398 (GRCm39) |
W1083R |
probably damaging |
Het |
Nell2 |
T |
C |
15: 95,333,038 (GRCm39) |
I174V |
probably damaging |
Het |
Noct |
G |
A |
3: 51,157,117 (GRCm39) |
|
probably null |
Het |
Nvl |
A |
T |
1: 180,962,639 (GRCm39) |
|
probably benign |
Het |
Ofcc1 |
T |
C |
13: 40,250,595 (GRCm39) |
S574G |
probably benign |
Het |
Or10a3m |
G |
A |
7: 108,313,339 (GRCm39) |
V248I |
probably damaging |
Het |
Or11h4 |
T |
C |
14: 50,973,681 (GRCm39) |
M313V |
probably benign |
Het |
Or4a75 |
A |
T |
2: 89,447,924 (GRCm39) |
M204K |
possibly damaging |
Het |
Pip5k1a |
A |
T |
3: 94,972,807 (GRCm39) |
S415T |
probably damaging |
Het |
Pkhd1 |
G |
A |
1: 20,623,741 (GRCm39) |
P785S |
probably damaging |
Het |
Plcg2 |
A |
G |
8: 118,339,733 (GRCm39) |
Y1048C |
probably damaging |
Het |
Ppp3cb |
A |
T |
14: 20,570,720 (GRCm39) |
V337E |
probably benign |
Het |
Prkg2 |
T |
C |
5: 99,114,368 (GRCm39) |
|
probably benign |
Het |
Prl7a2 |
T |
G |
13: 27,843,089 (GRCm39) |
Y238S |
probably benign |
Het |
Psg28 |
T |
A |
7: 18,161,804 (GRCm39) |
D233V |
probably damaging |
Het |
Rad50 |
A |
G |
11: 53,589,036 (GRCm39) |
C221R |
probably benign |
Het |
Rgl3 |
A |
G |
9: 21,887,254 (GRCm39) |
|
probably benign |
Het |
Rgsl1 |
T |
A |
1: 153,701,014 (GRCm39) |
|
probably benign |
Het |
Ror1 |
C |
A |
4: 100,299,071 (GRCm39) |
R815S |
probably damaging |
Het |
Rrp1b |
C |
A |
17: 32,275,534 (GRCm39) |
D360E |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,496,680 (GRCm39) |
Q3682R |
possibly damaging |
Het |
Sdr42e1 |
A |
T |
8: 118,389,616 (GRCm39) |
F342I |
possibly damaging |
Het |
Setd5 |
A |
G |
6: 113,128,114 (GRCm39) |
R1337G |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,001,140 (GRCm39) |
V36A |
probably damaging |
Het |
Slc4a5 |
G |
A |
6: 83,239,542 (GRCm39) |
G152D |
probably damaging |
Het |
Sptbn4 |
T |
G |
7: 27,063,587 (GRCm39) |
M2280L |
probably benign |
Het |
Syngr2 |
T |
C |
11: 117,703,406 (GRCm39) |
I74T |
probably damaging |
Het |
Tm9sf1 |
T |
C |
14: 55,878,866 (GRCm39) |
I175M |
possibly damaging |
Het |
Tmc3 |
A |
G |
7: 83,258,516 (GRCm39) |
E502G |
probably damaging |
Het |
Tph1 |
T |
A |
7: 46,311,463 (GRCm39) |
D88V |
possibly damaging |
Het |
Tpr |
A |
G |
1: 150,295,691 (GRCm39) |
K979E |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,691,934 (GRCm39) |
T799A |
probably benign |
Het |
Utf1 |
A |
G |
7: 139,523,920 (GRCm39) |
E45G |
possibly damaging |
Het |
Vmn1r208 |
A |
T |
13: 22,956,772 (GRCm39) |
C242S |
probably damaging |
Het |
Wrnip1 |
T |
C |
13: 33,004,223 (GRCm39) |
I498T |
probably damaging |
Het |
Ypel2 |
T |
A |
11: 86,862,699 (GRCm39) |
H18L |
probably benign |
Het |
Zan |
T |
G |
5: 137,420,110 (GRCm39) |
D2849A |
unknown |
Het |
Zfp647 |
A |
T |
15: 76,795,860 (GRCm39) |
F267I |
probably damaging |
Het |
Zfp786 |
G |
T |
6: 47,797,905 (GRCm39) |
H344Q |
possibly damaging |
Het |
Zswim3 |
G |
T |
2: 164,662,614 (GRCm39) |
A365S |
probably benign |
Het |
Zswim5 |
T |
C |
4: 116,830,238 (GRCm39) |
W538R |
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 |
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 |
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'- ACAACTTGTTTTGCCATAGAGG -3'
(R):5'- AGGTAGGTTTCGCTGCCAAG -3'
Sequencing Primer
(F):5'- TGCCATAGAGGAACTTAAATGTTAC -3'
(R):5'- CCAAGGGTGGTTTTGTGGTCC -3'
|
Posted On |
2014-10-02 |