Incidental Mutation 'R7902:Fyb1'
| ID |
610061 |
| 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 |
045954-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7902 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
6552334-6692794 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 6690197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090461]
|
| AlphaFold |
O35601 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090461
|
| SMART Domains |
Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
| 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 |
silent
Transcript: ENSMUST00000163073
|
| SMART Domains |
Protein: ENSMUSP00000123895
Gene: ENSMUSG00000022148
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (34/35) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Adamts14 |
T |
C |
10: 61,041,176 (GRCm39) |
S842G |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 129,562,654 (GRCm39) |
I1108T |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,548,863 (GRCm39) |
M2161L |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,364,832 (GRCm39) |
I1647T |
probably benign |
Het |
| Defb26 |
A |
T |
2: 152,350,156 (GRCm39) |
C41* |
probably null |
Het |
| Dennd3 |
T |
G |
15: 73,439,964 (GRCm39) |
|
probably benign |
Het |
| Edem1 |
C |
T |
6: 108,831,338 (GRCm39) |
R600W |
possibly damaging |
Het |
| F13a1 |
C |
A |
13: 37,172,913 (GRCm39) |
G156W |
probably damaging |
Het |
| Foxk2 |
A |
G |
11: 121,190,553 (GRCm39) |
T565A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,168 (GRCm39) |
I1496F |
possibly damaging |
Het |
| Gapdhs |
T |
C |
7: 30,436,146 (GRCm39) |
Y148C |
probably damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,505 (GRCm39) |
I81T |
probably damaging |
Het |
| Hddc2 |
A |
T |
10: 31,192,289 (GRCm39) |
R64S |
probably damaging |
Het |
| Hddc2 |
T |
A |
10: 31,196,338 (GRCm39) |
|
probably null |
Het |
| Klk10 |
T |
A |
7: 43,432,942 (GRCm39) |
S113T |
probably benign |
Het |
| Lin7a |
T |
C |
10: 107,159,843 (GRCm39) |
S52P |
possibly damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,331,029 (GRCm39) |
I2213L |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,466,615 (GRCm39) |
T763A |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,149,482 (GRCm39) |
I363N |
possibly damaging |
Het |
| Oat |
C |
T |
7: 132,161,393 (GRCm39) |
V381I |
probably benign |
Het |
| Or52n2c |
A |
G |
7: 104,574,557 (GRCm39) |
L138P |
probably damaging |
Het |
| Plpp2 |
A |
T |
10: 79,363,378 (GRCm39) |
I207N |
possibly damaging |
Het |
| Rps6ka4 |
T |
C |
19: 6,808,679 (GRCm39) |
E522G |
possibly damaging |
Het |
| Sars2 |
T |
C |
7: 28,441,628 (GRCm39) |
V63A |
probably benign |
Het |
| Sgf29 |
C |
T |
7: 126,271,350 (GRCm39) |
R209C |
probably damaging |
Het |
| Sptbn1 |
G |
A |
11: 30,086,048 (GRCm39) |
A1220V |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,757,902 (GRCm39) |
E1055G |
|
Het |
| Vmn1r158 |
A |
T |
7: 22,489,433 (GRCm39) |
C259S |
possibly damaging |
Het |
| Vmn2r120 |
T |
G |
17: 57,816,244 (GRCm39) |
I704L |
possibly damaging |
Het |
| Vwa8 |
A |
G |
14: 79,329,731 (GRCm39) |
S1188G |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,231,535 (GRCm39) |
K653E |
probably damaging |
Het |
| Zfp933 |
T |
A |
4: 147,911,058 (GRCm39) |
R179S |
probably damaging |
Het |
| Zfp937 |
A |
T |
2: 150,080,681 (GRCm39) |
H237L |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
|
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'- ACGCAGAGATGGATGTGAAACC -3'
(R):5'- AAATACTTTTCCTTGCCCTCCAAA -3'
Sequencing Primer
(F):5'- CAGAGATGGATGTGAAACCTTTGTCC -3'
(R):5'- ACAGGGTCTCATGTAGCCTAGAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation