Incidental Mutation 'R2224:Fyb1'
| ID |
241569 |
| 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 |
040225-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2224 (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 G
at 6681864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 737
(Y737C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090461]
|
| AlphaFold |
O35601 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090461
AA Change: Y737C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: Y737C
| 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: Y91C
|
| SMART Domains |
Protein: ENSMUSP00000123895
Gene: ENSMUSG00000022148
AA Change: Y91C
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
G |
16: 14,289,932 (GRCm39) |
L1416R |
probably damaging |
Het |
| Aen |
C |
A |
7: 78,552,199 (GRCm39) |
T15K |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,990,355 (GRCm39) |
|
probably benign |
Het |
| Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
| Arsb |
T |
A |
13: 93,930,679 (GRCm39) |
F216I |
probably damaging |
Het |
| Atg9b |
A |
G |
5: 24,591,393 (GRCm39) |
V735A |
possibly damaging |
Het |
| Brinp3 |
C |
T |
1: 146,777,658 (GRCm39) |
Q702* |
probably null |
Het |
| Btbd9 |
C |
A |
17: 30,746,320 (GRCm39) |
A169S |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,604,917 (GRCm39) |
N1132S |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
| Cep250 |
A |
C |
2: 155,833,737 (GRCm39) |
E1886D |
possibly damaging |
Het |
| Chd9 |
A |
C |
8: 91,737,913 (GRCm39) |
H1515P |
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,724,026 (GRCm39) |
C213R |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,679,214 (GRCm39) |
T544I |
probably damaging |
Het |
| Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
| Eea1 |
T |
A |
10: 95,855,874 (GRCm39) |
V637D |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
| Exo1 |
A |
G |
1: 175,714,254 (GRCm39) |
|
probably null |
Het |
| Fbxo21 |
T |
G |
5: 118,146,188 (GRCm39) |
Y597D |
probably damaging |
Het |
| Fbxw20 |
G |
C |
9: 109,062,650 (GRCm39) |
Q59E |
possibly damaging |
Het |
| Fpr3 |
T |
A |
17: 18,191,455 (GRCm39) |
V242D |
probably damaging |
Het |
| Gm17661 |
GG |
GGG |
2: 90,748,052 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
| Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
| Il17f |
A |
G |
1: 20,849,599 (GRCm39) |
V55A |
probably damaging |
Het |
| Inpp1 |
T |
A |
1: 52,829,290 (GRCm39) |
E243V |
probably benign |
Het |
| Leap2 |
A |
G |
11: 53,313,634 (GRCm39) |
L46P |
probably damaging |
Het |
| Map4k3 |
A |
T |
17: 80,937,883 (GRCm39) |
D339E |
probably benign |
Het |
| Met |
A |
G |
6: 17,563,721 (GRCm39) |
|
probably null |
Het |
| Mgam |
G |
T |
6: 40,741,208 (GRCm39) |
|
probably null |
Het |
| Mrgpra1 |
A |
G |
7: 46,984,854 (GRCm39) |
V275A |
possibly damaging |
Het |
| Mrgprx2 |
T |
A |
7: 48,132,608 (GRCm39) |
Q70L |
probably benign |
Het |
| Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
| Mup18 |
G |
T |
4: 61,590,128 (GRCm39) |
F133L |
possibly damaging |
Het |
| Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
| Nin |
A |
T |
12: 70,108,004 (GRCm39) |
I196N |
probably damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,253,745 (GRCm39) |
Y37F |
probably benign |
Het |
| Odc1 |
A |
G |
12: 17,597,336 (GRCm39) |
I13V |
probably benign |
Het |
| Or1ad1 |
T |
C |
11: 50,876,059 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4a67 |
A |
T |
2: 88,597,930 (GRCm39) |
M243K |
possibly damaging |
Het |
| Or5m12 |
T |
A |
2: 85,735,099 (GRCm39) |
I100F |
probably benign |
Het |
| Pard3 |
A |
G |
8: 128,086,257 (GRCm39) |
I286V |
probably damaging |
Het |
| Pcx |
T |
C |
19: 4,668,026 (GRCm39) |
I516T |
possibly damaging |
Het |
| Ppp1r9a |
G |
T |
6: 5,154,074 (GRCm39) |
R1081L |
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,201,172 (GRCm39) |
|
probably benign |
Het |
| Rnmt |
C |
T |
18: 68,438,854 (GRCm39) |
|
probably benign |
Het |
| Saxo5 |
A |
G |
8: 3,529,249 (GRCm39) |
T245A |
probably benign |
Het |
| Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
| Sirt2 |
A |
G |
7: 28,471,637 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
| Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
| Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tsbp1 |
C |
A |
17: 34,667,737 (GRCm39) |
|
probably null |
Het |
| Uqcrc2 |
T |
A |
7: 120,240,937 (GRCm39) |
V73E |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,742,634 (GRCm39) |
K336R |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,701,295 (GRCm39) |
Y68* |
probably null |
Het |
| Zbtb4 |
C |
T |
11: 69,667,184 (GRCm39) |
T163I |
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 |
|
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 |
|
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'- TCCTGTCACCCTAGTCAAGG -3'
(R):5'- GCTGTGACTTACATTTGCCC -3'
Sequencing Primer
(F):5'- ACATTGTGTCTGCCGTCACAAAG -3'
(R):5'- CTCTTCATTCCTGCAGAGAACTTTGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation