Incidental Mutation 'IGL01377:Fyb1'
| ID |
78768 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fyb1
|
| Ensembl Gene |
ENSMUSG00000022148 |
| Gene Name |
FYN binding protein 1 |
| Synonyms |
B630013F22Rik, Fyb, ADAP, FYB-120/130 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01377
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
6552334-6692794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6609801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 125
(S125P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090461]
[ENSMUST00000160612]
[ENSMUST00000226412]
[ENSMUST00000227175]
|
| AlphaFold |
O35601 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090461
AA Change: S125P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: S125P
| 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 |
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 |
probably benign
Transcript: ENSMUST00000226412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227175
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,460,108 (GRCm39) |
V196D |
probably damaging |
Het |
| Ago1 |
C |
T |
4: 126,353,610 (GRCm39) |
V279M |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,027,601 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
A |
G |
10: 4,510,966 (GRCm39) |
D675G |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,892,708 (GRCm39) |
Y291N |
probably damaging |
Het |
| Cdca5 |
T |
C |
19: 6,140,312 (GRCm39) |
S158P |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,760,021 (GRCm39) |
I576T |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,953,640 (GRCm39) |
|
probably null |
Het |
| Cyc1 |
C |
T |
15: 76,229,162 (GRCm39) |
R143* |
probably null |
Het |
| Dcaf6 |
A |
T |
1: 165,216,293 (GRCm39) |
S437T |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,075,179 (GRCm39) |
D552G |
probably benign |
Het |
| Epor |
T |
C |
9: 21,870,593 (GRCm39) |
D429G |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,531,181 (GRCm39) |
I560V |
possibly damaging |
Het |
| Fbxw21 |
T |
A |
9: 108,975,713 (GRCm39) |
R228* |
probably null |
Het |
| Gfm1 |
A |
T |
3: 67,382,086 (GRCm39) |
Y720F |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,645,681 (GRCm39) |
D455E |
possibly damaging |
Het |
| Katnal2 |
T |
C |
18: 77,090,153 (GRCm39) |
R285G |
probably damaging |
Het |
| Kif12 |
G |
A |
4: 63,088,962 (GRCm39) |
T153I |
probably damaging |
Het |
| Klhl31 |
T |
C |
9: 77,558,013 (GRCm39) |
F243S |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,199,676 (GRCm39) |
Y208H |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,491,550 (GRCm39) |
V239A |
probably damaging |
Het |
| Mblac2 |
G |
A |
13: 81,898,266 (GRCm39) |
R214H |
probably damaging |
Het |
| Mlf2 |
A |
G |
6: 124,911,654 (GRCm39) |
N168D |
probably damaging |
Het |
| Mtmr6 |
T |
A |
14: 60,519,483 (GRCm39) |
Y134* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,536,172 (GRCm39) |
K515E |
possibly damaging |
Het |
| Nek1 |
A |
G |
8: 61,542,490 (GRCm39) |
T718A |
probably benign |
Het |
| Nfx1 |
A |
G |
4: 40,977,241 (GRCm39) |
N305S |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 89,499,782 (GRCm39) |
|
probably null |
Het |
| Nsf |
T |
C |
11: 103,763,473 (GRCm39) |
D377G |
probably damaging |
Het |
| Pde4b |
A |
G |
4: 102,344,599 (GRCm39) |
E102G |
probably damaging |
Het |
| Pdlim4 |
G |
T |
11: 53,947,130 (GRCm39) |
S56R |
probably benign |
Het |
| Poc5 |
T |
C |
13: 96,538,139 (GRCm39) |
V268A |
probably benign |
Het |
| Sec23b |
A |
C |
2: 144,401,157 (GRCm39) |
E6A |
probably damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,424,048 (GRCm39) |
|
probably benign |
Het |
| Slc16a12 |
T |
A |
19: 34,650,084 (GRCm39) |
N317I |
possibly damaging |
Het |
| Slc1a7 |
A |
T |
4: 107,850,162 (GRCm39) |
D91V |
probably damaging |
Het |
| Slc30a9 |
T |
G |
5: 67,473,173 (GRCm39) |
S86A |
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
T |
C |
6: 82,380,636 (GRCm39) |
S16P |
probably benign |
Het |
| Tmtc1 |
A |
C |
6: 148,147,285 (GRCm39) |
V804G |
possibly damaging |
Het |
| Ttc7b |
A |
G |
12: 100,321,371 (GRCm39) |
F587L |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,288,855 (GRCm39) |
D215E |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation