Incidental Mutation 'R1481:Fyb'
| ID |
164403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fyb
|
| Ensembl Gene |
ENSMUSG00000022148 |
| Gene Name |
FYN binding protein |
| Synonyms |
B630013F22Rik, ADAP, FYB-120/130 |
| MMRRC Submission |
039534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1481 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
6522853-6663313 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6619647 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 385
(P385S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090461]
[ENSMUST00000160612]
|
| AlphaFold |
O35601 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090461
AA Change: P385S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: P385S
| 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 |
noncoding transcript
Transcript: ENSMUST00000160698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162430
|
| Meta Mutation Damage Score |
0.0688 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
100% (71/71) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
T |
C |
3: 37,008,434 (GRCm38) |
V3365A |
probably damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,274,634 (GRCm38) |
H773R |
probably damaging |
Het |
| Bmp3 |
G |
A |
5: 98,872,470 (GRCm38) |
V251M |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,101,948 (GRCm38) |
|
probably benign |
Het |
| Ccdc178 |
C |
T |
18: 22,105,621 (GRCm38) |
G313D |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 115,012,633 (GRCm38) |
I129F |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,782,385 (GRCm38) |
Q120R |
possibly damaging |
Het |
| Ckb |
T |
C |
12: 111,671,262 (GRCm38) |
H145R |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,117,663 (GRCm38) |
N336K |
probably damaging |
Het |
| Coil |
T |
A |
11: 88,974,060 (GRCm38) |
C38S |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,143,882 (GRCm38) |
V133A |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,887,810 (GRCm38) |
E943G |
probably damaging |
Het |
| Cyp2c54 |
C |
T |
19: 40,047,588 (GRCm38) |
D293N |
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 27,121,877 (GRCm38) |
S72P |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,551,866 (GRCm38) |
|
probably null |
Het |
| Dock6 |
T |
C |
9: 21,820,622 (GRCm38) |
T1158A |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,672,643 (GRCm38) |
V469I |
probably benign |
Het |
| Efcab14 |
A |
G |
4: 115,756,517 (GRCm38) |
T221A |
probably benign |
Het |
| Ehbp1 |
T |
C |
11: 22,006,782 (GRCm38) |
*1207W |
probably null |
Het |
| Eln |
T |
C |
5: 134,706,572 (GRCm38) |
K786E |
probably damaging |
Het |
| Galr1 |
A |
G |
18: 82,405,741 (GRCm38) |
I137T |
possibly damaging |
Het |
| Gcm1 |
A |
T |
9: 78,059,717 (GRCm38) |
K73* |
probably null |
Het |
| Gemin5 |
T |
C |
11: 58,141,654 (GRCm38) |
N775D |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,613,850 (GRCm38) |
H147Y |
probably damaging |
Het |
| Gm10754 |
G |
T |
10: 97,682,227 (GRCm38) |
|
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,138 (GRCm38) |
D569G |
probably damaging |
Het |
| Grina |
T |
A |
15: 76,249,089 (GRCm38) |
Y286N |
probably damaging |
Het |
| Gtf3c1 |
C |
A |
7: 125,693,138 (GRCm38) |
|
probably null |
Het |
| Kcnc4 |
C |
T |
3: 107,448,218 (GRCm38) |
V305M |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,778,275 (GRCm38) |
F724L |
probably benign |
Het |
| Kpnb1 |
T |
C |
11: 97,178,310 (GRCm38) |
Y249C |
probably damaging |
Het |
| Krt6b |
T |
C |
15: 101,678,374 (GRCm38) |
T269A |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,221,634 (GRCm38) |
K1555E |
probably damaging |
Het |
| Maneal |
T |
C |
4: 124,861,857 (GRCm38) |
Y104C |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,431,171 (GRCm38) |
T1681A |
unknown |
Het |
| Mettl17 |
T |
C |
14: 51,890,703 (GRCm38) |
L272P |
probably benign |
Het |
| Mib2 |
T |
A |
4: 155,656,999 (GRCm38) |
S357C |
probably benign |
Het |
| Mmp19 |
C |
A |
10: 128,798,178 (GRCm38) |
T316K |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 163,026,509 (GRCm38) |
G774E |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,205,499 (GRCm38) |
|
probably benign |
Het |
| Ncor2 |
C |
A |
5: 125,027,138 (GRCm38) |
E963* |
probably null |
Het |
| Nol6 |
T |
A |
4: 41,123,596 (GRCm38) |
T51S |
probably benign |
Het |
| Nsun3 |
A |
T |
16: 62,735,369 (GRCm38) |
C265S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 32,034,466 (GRCm38) |
S1669F |
probably damaging |
Het |
| Nutm2 |
T |
A |
13: 50,469,481 (GRCm38) |
N71K |
probably damaging |
Het |
| Olfr498 |
C |
T |
7: 108,465,960 (GRCm38) |
T212I |
probably benign |
Het |
| Olfr713 |
T |
G |
7: 107,036,149 (GRCm38) |
L5R |
probably benign |
Het |
| Orc3 |
T |
A |
4: 34,607,228 (GRCm38) |
E34V |
possibly damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,442,836 (GRCm38) |
L89Q |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,452,548 (GRCm38) |
V1241E |
probably null |
Het |
| Prpf39 |
C |
T |
12: 65,053,314 (GRCm38) |
P135S |
probably damaging |
Het |
| Psrc1 |
T |
C |
3: 108,384,993 (GRCm38) |
V34A |
probably benign |
Het |
| Rab27a |
G |
A |
9: 73,082,402 (GRCm38) |
V52M |
probably benign |
Het |
| Rassf9 |
A |
G |
10: 102,546,034 (GRCm38) |
T424A |
probably benign |
Het |
| Ripor3 |
G |
T |
2: 168,000,377 (GRCm38) |
R61S |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,636,522 (GRCm38) |
|
probably benign |
Het |
| Samd4b |
C |
T |
7: 28,414,010 (GRCm38) |
G177R |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 78,783,301 (GRCm38) |
V1366M |
probably benign |
Het |
| Smad1 |
G |
A |
8: 79,343,730 (GRCm38) |
A393V |
probably benign |
Het |
| Tctn2 |
T |
C |
5: 124,607,763 (GRCm38) |
|
noncoding transcript |
Het |
| Tmem45a |
A |
T |
16: 56,811,602 (GRCm38) |
F218I |
possibly damaging |
Het |
| Tpte |
A |
T |
8: 22,355,471 (GRCm38) |
R512S |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,129,759 (GRCm38) |
L22* |
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,737,130 (GRCm38) |
N1792D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,945,616 (GRCm38) |
M1694T |
probably damaging |
Het |
| Vmn1r181 |
T |
A |
7: 23,984,712 (GRCm38) |
W201R |
probably damaging |
Het |
| Wdr74 |
C |
T |
19: 8,738,228 (GRCm38) |
L198F |
possibly damaging |
Het |
| Zfp560 |
T |
C |
9: 20,348,790 (GRCm38) |
T259A |
probably benign |
Het |
|
| Other mutations in Fyb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Fyb
|
APN |
15 |
6,580,777 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00801:Fyb
|
APN |
15 |
6,644,824 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL00974:Fyb
|
APN |
15 |
6,642,585 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01377:Fyb
|
APN |
15 |
6,580,320 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01982:Fyb
|
APN |
15 |
6,580,177 (GRCm38) |
missense |
probably null |
0.99 |
|
IGL02173:Fyb
|
APN |
15 |
6,580,695 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02177:Fyb
|
APN |
15 |
6,658,566 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02345:Fyb
|
APN |
15 |
6,619,662 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02695:Fyb
|
APN |
15 |
6,580,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02820:Fyb
|
APN |
15 |
6,658,559 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL02867:Fyb
|
APN |
15 |
6,580,046 (GRCm38) |
missense |
probably damaging |
1.00 |
|
baddie
|
UTSW |
15 |
6,652,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
luegner
|
UTSW |
15 |
6,580,869 (GRCm38) |
nonsense |
probably null |
|
|
uebeltaeter
|
UTSW |
15 |
6,638,907 (GRCm38) |
missense |
probably damaging |
1.00 |
|
P0023:Fyb
|
UTSW |
15 |
6,651,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0028:Fyb
|
UTSW |
15 |
6,644,914 (GRCm38) |
intron |
probably benign |
|
|
R0364:Fyb
|
UTSW |
15 |
6,580,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0507:Fyb
|
UTSW |
15 |
6,634,816 (GRCm38) |
missense |
probably benign |
0.39 |
|
R0588:Fyb
|
UTSW |
15 |
6,580,459 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0742:Fyb
|
UTSW |
15 |
6,634,816 (GRCm38) |
missense |
probably benign |
0.39 |
|
R0930:Fyb
|
UTSW |
15 |
6,638,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1184:Fyb
|
UTSW |
15 |
6,638,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1446:Fyb
|
UTSW |
15 |
6,652,466 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1711:Fyb
|
UTSW |
15 |
6,580,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2041:Fyb
|
UTSW |
15 |
6,644,787 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R2176:Fyb
|
UTSW |
15 |
6,579,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2224:Fyb
|
UTSW |
15 |
6,652,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2372:Fyb
|
UTSW |
15 |
6,651,907 (GRCm38) |
splice site |
probably benign |
|
|
R3236:Fyb
|
UTSW |
15 |
6,630,116 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4117:Fyb
|
UTSW |
15 |
6,630,116 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4181:Fyb
|
UTSW |
15 |
6,580,923 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4322:Fyb
|
UTSW |
15 |
6,580,819 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R4952:Fyb
|
UTSW |
15 |
6,638,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4981:Fyb
|
UTSW |
15 |
6,646,611 (GRCm38) |
splice site |
probably benign |
|
|
R5055:Fyb
|
UTSW |
15 |
6,585,149 (GRCm38) |
unclassified |
probably benign |
|
|
R5368:Fyb
|
UTSW |
15 |
6,580,678 (GRCm38) |
splice site |
probably null |
|
|
R5719:Fyb
|
UTSW |
15 |
6,580,869 (GRCm38) |
nonsense |
probably null |
|
|
R5822:Fyb
|
UTSW |
15 |
6,663,226 (GRCm38) |
unclassified |
probably benign |
|
|
R6064:Fyb
|
UTSW |
15 |
6,638,868 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6929:Fyb
|
UTSW |
15 |
6,638,907 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7125:Fyb
|
UTSW |
15 |
6,644,856 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7243:Fyb
|
UTSW |
15 |
6,643,699 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7748:Fyb
|
UTSW |
15 |
6,638,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7750:Fyb
|
UTSW |
15 |
6,660,703 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7902:Fyb
|
UTSW |
15 |
6,660,716 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8182:Fyb
|
UTSW |
15 |
6,651,812 (GRCm38) |
missense |
probably benign |
|
|
R8841:Fyb
|
UTSW |
15 |
6,652,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9103:Fyb
|
UTSW |
15 |
6,643,751 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9256:Fyb
|
UTSW |
15 |
6,644,877 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9385:Fyb
|
UTSW |
15 |
6,634,816 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9739:Fyb
|
UTSW |
15 |
6,640,582 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1088:Fyb
|
UTSW |
15 |
6,658,540 (GRCm38) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGGACAGGAGATGTGAATACTAGAT -3'
(R):5'- CCTGGCGAGACCCTGCTGA -3'
Sequencing Primer
(F):5'- GGAGATGTGAATACTAGATTTCTCTG -3'
(R):5'- AGACCCTGCTGATGAAATCG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation