Incidental Mutation 'IGL02820:Fyb1'
| ID |
360969 |
| 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 # |
IGL02820
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
6552334-6692794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 6688040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 800
(V800G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090461]
|
| AlphaFold |
O35601 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090461
AA Change: V800G
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: V800G
| 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: ENSMUST00000146631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162154
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163073
AA Change: V154G
|
| SMART Domains |
Protein: ENSMUSP00000123895
Gene: ENSMUSG00000022148
AA Change: V154G
| 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 |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
T |
C |
12: 24,124,417 (GRCm39) |
Y86C |
probably benign |
Het |
| Adgra2 |
G |
A |
8: 27,607,535 (GRCm39) |
V47M |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,912,921 (GRCm39) |
C349R |
possibly damaging |
Het |
| Anks4b |
A |
T |
7: 119,781,914 (GRCm39) |
|
probably benign |
Het |
| Apobec2 |
A |
G |
17: 48,730,295 (GRCm39) |
S124P |
probably damaging |
Het |
| Brd8 |
G |
A |
18: 34,740,354 (GRCm39) |
S493L |
probably benign |
Het |
| Cbln3 |
A |
G |
14: 56,120,944 (GRCm39) |
Y126H |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,364,721 (GRCm39) |
|
probably benign |
Het |
| Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
| Ceacam2 |
T |
A |
7: 25,219,411 (GRCm39) |
H283L |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,699 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,478,834 (GRCm39) |
D718G |
possibly damaging |
Het |
| Clmn |
A |
T |
12: 104,739,493 (GRCm39) |
Y979N |
probably damaging |
Het |
| Ddias |
T |
C |
7: 92,508,551 (GRCm39) |
T455A |
probably benign |
Het |
| Dennd5b |
T |
C |
6: 148,920,840 (GRCm39) |
R851G |
probably null |
Het |
| Dock1 |
T |
C |
7: 134,768,944 (GRCm39) |
V1771A |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,077,187 (GRCm39) |
L694Q |
probably damaging |
Het |
| Faim2 |
T |
C |
15: 99,419,138 (GRCm39) |
Y77C |
probably benign |
Het |
| Fbxw22 |
A |
T |
9: 109,215,732 (GRCm39) |
I172N |
probably damaging |
Het |
| Fhad1 |
C |
T |
4: 141,646,069 (GRCm39) |
D298N |
probably benign |
Het |
| Gcm1 |
T |
C |
9: 77,971,844 (GRCm39) |
F262L |
probably benign |
Het |
| Gm21983 |
T |
C |
7: 26,879,605 (GRCm39) |
M121V |
probably benign |
Het |
| Gm9996 |
A |
T |
10: 29,019,657 (GRCm39) |
|
probably benign |
Het |
| Gstm3 |
A |
T |
3: 107,876,074 (GRCm39) |
|
probably benign |
Het |
| Gsto2 |
G |
T |
19: 47,863,398 (GRCm39) |
E91D |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 119,376,492 (GRCm39) |
M222I |
possibly damaging |
Het |
| Ighv3-6 |
T |
C |
12: 114,251,850 (GRCm39) |
D90G |
probably damaging |
Het |
| Itgb1bp1 |
C |
T |
12: 21,326,854 (GRCm39) |
A40T |
possibly damaging |
Het |
| Kcns3 |
C |
T |
12: 11,141,872 (GRCm39) |
E276K |
probably benign |
Het |
| Lamc3 |
C |
T |
2: 31,813,034 (GRCm39) |
R1007C |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,978,877 (GRCm39) |
M125K |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,812,643 (GRCm39) |
N1018K |
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,895,290 (GRCm39) |
S186C |
probably damaging |
Het |
| Or1j20 |
A |
T |
2: 36,759,871 (GRCm39) |
T98S |
probably benign |
Het |
| Polg |
T |
C |
7: 79,109,519 (GRCm39) |
T433A |
possibly damaging |
Het |
| Rdh13 |
C |
T |
7: 4,438,059 (GRCm39) |
V127M |
probably damaging |
Het |
| Rdh16 |
A |
G |
10: 127,649,470 (GRCm39) |
T309A |
probably benign |
Het |
| Reep5 |
A |
T |
18: 34,506,312 (GRCm39) |
D21E |
probably benign |
Het |
| Rptn |
A |
T |
3: 93,304,227 (GRCm39) |
N520I |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,047,122 (GRCm39) |
L928P |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,254,273 (GRCm39) |
I212V |
probably benign |
Het |
| Snupn |
A |
G |
9: 56,870,332 (GRCm39) |
T71A |
probably benign |
Het |
| Ssu2 |
T |
C |
6: 112,359,353 (GRCm39) |
N89S |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,321,071 (GRCm39) |
S1535P |
probably damaging |
Het |
| Tmt1a |
C |
A |
15: 100,202,933 (GRCm39) |
S51* |
probably null |
Het |
| Uba7 |
A |
T |
9: 107,858,715 (GRCm39) |
S849C |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,007,439 (GRCm39) |
T472A |
probably benign |
Het |
| Wdr6 |
A |
G |
9: 108,455,743 (GRCm39) |
I17T |
probably benign |
Het |
| Xkr9 |
G |
A |
1: 13,771,173 (GRCm39) |
V230I |
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 |
|
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 |
2015-12-18 |
Incidental Mutation