Incidental Mutation 'R1446:Fyb1'
| ID |
158906 |
| 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 |
039501-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1446 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
6552334-6692794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6681947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 765
(I765L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090461]
|
| AlphaFold |
O35601 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090461
AA Change: I765L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: I765L
| 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: ENSMUST00000159604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162154
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163073
AA Change: I119L
|
| SMART Domains |
Protein: ENSMUSP00000123895
Gene: ENSMUSG00000022148
AA Change: I119L
| 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: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
T |
5: 77,034,136 (GRCm39) |
A472T |
probably benign |
Het |
| Adcy4 |
A |
T |
14: 56,007,480 (GRCm39) |
|
probably null |
Het |
| Ahcyl2 |
T |
C |
6: 29,891,239 (GRCm39) |
S448P |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 90,346,935 (GRCm39) |
Y745C |
probably benign |
Het |
| Anxa1 |
A |
T |
19: 20,351,103 (GRCm39) |
L339Q |
probably damaging |
Het |
| Apoa4 |
A |
G |
9: 46,153,591 (GRCm39) |
D64G |
probably benign |
Het |
| Arpc1a |
A |
G |
5: 145,037,896 (GRCm39) |
|
probably null |
Het |
| Bank1 |
C |
T |
3: 135,769,904 (GRCm39) |
G727R |
probably damaging |
Het |
| Best2 |
T |
C |
8: 85,734,593 (GRCm39) |
Q375R |
probably benign |
Het |
| Cacna1b |
T |
A |
2: 24,596,189 (GRCm39) |
M501L |
probably benign |
Het |
| Col27a1 |
T |
A |
4: 63,143,040 (GRCm39) |
Y243N |
probably damaging |
Het |
| Cyp11a1 |
A |
T |
9: 57,922,560 (GRCm39) |
Q80L |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,866,860 (GRCm39) |
W2260R |
probably damaging |
Het |
| Dnajc19 |
T |
C |
3: 34,112,128 (GRCm39) |
H139R |
probably benign |
Het |
| Dppa5a |
T |
A |
9: 78,275,071 (GRCm39) |
N77I |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,614,764 (GRCm39) |
S125P |
probably damaging |
Het |
| Eid2 |
T |
C |
7: 27,968,014 (GRCm39) |
I212T |
possibly damaging |
Het |
| Fam234b |
T |
A |
6: 135,186,328 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
C |
3: 53,562,017 (GRCm39) |
E830G |
probably benign |
Het |
| Fyn |
T |
G |
10: 39,398,775 (GRCm39) |
S124A |
probably benign |
Het |
| Gal3st3 |
T |
A |
19: 5,356,939 (GRCm39) |
F105I |
probably damaging |
Het |
| Gpr146 |
A |
G |
5: 139,379,177 (GRCm39) |
I326M |
probably benign |
Het |
| Grk2 |
G |
A |
19: 4,337,437 (GRCm39) |
R617C |
possibly damaging |
Het |
| Gsn |
A |
G |
2: 35,196,598 (GRCm39) |
K669R |
probably benign |
Het |
| H2-T10 |
A |
T |
17: 36,430,266 (GRCm39) |
I225N |
possibly damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,286,127 (GRCm39) |
H106R |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,215,638 (GRCm39) |
E41G |
probably damaging |
Het |
| Kcnma1 |
G |
T |
14: 23,361,792 (GRCm39) |
T1006K |
probably damaging |
Het |
| Kif18b |
G |
A |
11: 102,805,525 (GRCm39) |
T244I |
probably damaging |
Het |
| Klb |
A |
T |
5: 65,506,338 (GRCm39) |
H195L |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,704,727 (GRCm39) |
F252L |
probably benign |
Het |
| Lum |
C |
T |
10: 97,404,252 (GRCm39) |
T49I |
possibly damaging |
Het |
| Map3k4 |
T |
A |
17: 12,475,681 (GRCm39) |
L84* |
probably null |
Het |
| Mindy2 |
A |
G |
9: 70,514,738 (GRCm39) |
|
probably null |
Het |
| Mpped2 |
G |
T |
2: 106,614,077 (GRCm39) |
R137L |
possibly damaging |
Het |
| Myo18b |
G |
A |
5: 112,905,425 (GRCm39) |
R2058W |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,808,703 (GRCm39) |
L65Q |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or4c108 |
A |
G |
2: 88,804,109 (GRCm39) |
I42T |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,202 (GRCm39) |
L247M |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,380 (GRCm39) |
A96V |
possibly damaging |
Het |
| Or5g9 |
A |
G |
2: 85,551,917 (GRCm39) |
H56R |
probably damaging |
Het |
| Or8b3 |
T |
G |
9: 38,314,601 (GRCm39) |
C144G |
possibly damaging |
Het |
| Or9a4 |
C |
T |
6: 40,548,833 (GRCm39) |
S171L |
probably benign |
Het |
| Parp12 |
G |
T |
6: 39,079,495 (GRCm39) |
D338E |
probably benign |
Het |
| Pde6d |
T |
C |
1: 86,474,414 (GRCm39) |
E77G |
probably damaging |
Het |
| Phkg1 |
A |
C |
5: 129,902,055 (GRCm39) |
|
probably null |
Het |
| Pigw |
A |
C |
11: 84,769,186 (GRCm39) |
S48A |
probably benign |
Het |
| Pkm |
T |
A |
9: 59,576,193 (GRCm39) |
|
probably null |
Het |
| Ppp1r3f |
G |
A |
X: 7,426,602 (GRCm39) |
T553M |
probably damaging |
Het |
| Retreg2 |
T |
A |
1: 75,120,103 (GRCm39) |
F44L |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,753,035 (GRCm39) |
M1762K |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,313,579 (GRCm39) |
V1927A |
probably benign |
Het |
| Sec23a |
G |
T |
12: 59,025,345 (GRCm39) |
A492E |
probably damaging |
Het |
| Skint4 |
T |
A |
4: 111,975,311 (GRCm39) |
H82Q |
probably benign |
Het |
| Srbd1 |
T |
C |
17: 86,446,580 (GRCm39) |
K60E |
probably benign |
Het |
| Stk24 |
A |
G |
14: 121,545,456 (GRCm39) |
Y101H |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,726,396 (GRCm39) |
N239K |
probably damaging |
Het |
| Tgs1 |
C |
T |
4: 3,604,848 (GRCm39) |
P757S |
probably damaging |
Het |
| Tmc2 |
A |
T |
2: 130,090,650 (GRCm39) |
E665D |
probably damaging |
Het |
| Tmprss15 |
C |
A |
16: 78,875,846 (GRCm39) |
D163Y |
probably benign |
Het |
| Unc13a |
C |
A |
8: 72,101,625 (GRCm39) |
V1009L |
possibly damaging |
Het |
| Unc45b |
G |
T |
11: 82,819,496 (GRCm39) |
G490C |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,765 (GRCm39) |
H37L |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,645,264 (GRCm39) |
M450V |
possibly damaging |
Het |
| Wars2 |
T |
C |
3: 99,094,843 (GRCm39) |
I46T |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 101,999,176 (GRCm39) |
T3098K |
possibly damaging |
Het |
| Zan |
A |
T |
5: 137,387,622 (GRCm39) |
I4863N |
unknown |
Het |
| Zfp616 |
A |
G |
11: 73,974,064 (GRCm39) |
|
probably null |
Het |
| Zfp770 |
A |
T |
2: 114,027,514 (GRCm39) |
I185N |
probably damaging |
Het |
| Zfp808 |
T |
G |
13: 62,320,821 (GRCm39) |
H683Q |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,776,275 (GRCm39) |
W1221R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTAGTCAAGGAATGAGTGTTGGA -3'
(R):5'- GGAGACAGGCAGGACCACTGTA -3'
Sequencing Primer
(F):5'- gaagaaatcacaaaggcaggag -3'
(R):5'- AGGACCACTGTAGCCAGTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation