Incidental Mutation 'R8182:Fyb1'
| ID |
634699 |
| 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 |
067606-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8182 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
6552334-6692794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6681293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 706
(M706K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090461]
|
| AlphaFold |
O35601 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090461
AA Change: M706K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: M706K
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000123895
Gene: ENSMUSG00000022148
AA Change: M60K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (48/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
A |
G |
8: 13,272,774 (GRCm39) |
V1328A |
probably benign |
Het |
| Akna |
T |
C |
4: 63,313,034 (GRCm39) |
Y363C |
probably damaging |
Het |
| Aph1c |
A |
G |
9: 66,740,549 (GRCm39) |
I59T |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,664,372 (GRCm39) |
F100I |
probably damaging |
Het |
| Cibar1 |
T |
C |
4: 12,171,842 (GRCm39) |
H30R |
probably benign |
Het |
| Eef2k |
G |
A |
7: 120,472,626 (GRCm39) |
R113Q |
probably damaging |
Het |
| Fam221b |
G |
A |
4: 43,660,342 (GRCm39) |
R416C |
probably damaging |
Het |
| Fam98b |
C |
A |
2: 117,080,302 (GRCm39) |
D18E |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,175,223 (GRCm39) |
Y1830F |
possibly damaging |
Het |
| Fbrsl1 |
T |
A |
5: 110,526,861 (GRCm39) |
Q221L |
possibly damaging |
Het |
| Fbxo4 |
T |
C |
15: 3,998,451 (GRCm39) |
R336G |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,384,778 (GRCm39) |
C341S |
probably benign |
Het |
| Fip1l1 |
T |
C |
5: 74,748,813 (GRCm39) |
S398P |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,806,951 (GRCm39) |
D1090G |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,897,929 (GRCm39) |
F747I |
possibly damaging |
Het |
| Gm8257 |
A |
G |
14: 44,887,623 (GRCm39) |
L254P |
probably benign |
Het |
| Hnf4g |
T |
C |
3: 3,716,679 (GRCm39) |
Y283H |
possibly damaging |
Het |
| Irx6 |
C |
A |
8: 93,403,642 (GRCm39) |
Y122* |
probably null |
Het |
| Jph4 |
C |
T |
14: 55,347,213 (GRCm39) |
G445R |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,554,819 (GRCm39) |
R660S |
possibly damaging |
Het |
| Kif21a |
C |
T |
15: 90,819,964 (GRCm39) |
G1556D |
possibly damaging |
Het |
| Kif3a |
T |
A |
11: 53,485,133 (GRCm39) |
Y531* |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,319,673 (GRCm39) |
D1950G |
probably damaging |
Het |
| Med23 |
T |
G |
10: 24,788,705 (GRCm39) |
S1371A |
probably benign |
Het |
| Mef2a |
T |
A |
7: 66,917,875 (GRCm39) |
E112D |
probably benign |
Het |
| Mxra8 |
C |
G |
4: 155,925,589 (GRCm39) |
Y99* |
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,239,292 (GRCm39) |
T112A |
probably benign |
Het |
| Or8b49 |
G |
A |
9: 38,505,840 (GRCm39) |
V108I |
probably benign |
Het |
| Pclo |
G |
A |
5: 14,905,634 (GRCm39) |
E4955K |
unknown |
Het |
| Poc1b |
T |
C |
10: 98,991,005 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
A |
G |
3: 119,534,078 (GRCm39) |
Y264H |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,034,070 (GRCm39) |
V385A |
probably benign |
Het |
| Rlf |
G |
A |
4: 121,008,102 (GRCm39) |
P403S |
possibly damaging |
Het |
| Rnase9 |
T |
C |
14: 51,276,537 (GRCm39) |
N147S |
probably benign |
Het |
| Serpinb9f |
A |
G |
13: 33,518,603 (GRCm39) |
I368V |
probably benign |
Het |
| Slc1a1 |
A |
T |
19: 28,878,848 (GRCm39) |
T196S |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,608,120 (GRCm39) |
S60G |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,744,990 (GRCm39) |
V212E |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,365,584 (GRCm39) |
I584N |
probably damaging |
Het |
| Ube3b |
T |
A |
5: 114,530,199 (GRCm39) |
N195K |
possibly damaging |
Het |
| Upk3b |
T |
C |
5: 136,067,982 (GRCm39) |
C58R |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,847,775 (GRCm39) |
|
probably null |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,876 (GRCm39) |
T75A |
|
Het |
| Vmn2r77 |
T |
A |
7: 86,460,801 (GRCm39) |
L709H |
probably damaging |
Het |
| Wdcp |
T |
C |
12: 4,901,850 (GRCm39) |
S569P |
probably damaging |
Het |
| Zfp418 |
A |
T |
7: 7,184,658 (GRCm39) |
N207I |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp808 |
G |
A |
13: 62,319,521 (GRCm39) |
C250Y |
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 |
|
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 |
|
|
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'- AACCCCATCTATCTGTCAGAAAG -3'
(R):5'- GTACTGACAAATTTACTAAGAAGGGTT -3'
Sequencing Primer
(F):5'- TAATCTCAGCACTTGGAAGGC -3'
(R):5'- GCTATTTATCACAGTCCCGTGACAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation