Mutagenetix > Incidental Mutation

Incidental Mutation 'R0588:Fyb1'

55846

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

038778-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0588 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6552334-6692794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6609940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 171 (V171A)

Ref Sequence

ENSEMBL: ENSMUSP00000087947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090461] [ENSMUST00000160612] [ENSMUST00000226412] [ENSMUST00000227175]

AlphaFold

O35601

Predicted Effect

probably benign
Transcript: ENSMUST00000090461
AA Change: V171A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: V171A

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

probably benign
Transcript: ENSMUST00000226412

Predicted Effect

probably benign
Transcript: ENSMUST00000227175

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (25/25)

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,548,787 (GRCm39)	K1299*	probably null	Het
Adamts2	G	T	11: 50,667,491 (GRCm39)	W476C	probably damaging	Het
Ankrd13c	T	C	3: 157,711,454 (GRCm39)	F525L	probably damaging	Het
Arg1	T	C	10: 24,796,522 (GRCm39)	S102G	probably damaging	Het
Atp2a3	A	T	11: 72,863,850 (GRCm39)	D192V	possibly damaging	Het
Cabin1	T	C	10: 75,581,171 (GRCm39)	E385G	possibly damaging	Het
Cacna1h	A	T	17: 25,606,538 (GRCm39)	D1020E	probably damaging	Het
Calcb	C	T	7: 114,319,361 (GRCm39)	H48Y	probably benign	Het
Crtc1	A	G	8: 70,892,199 (GRCm39)	S4P	probably damaging	Het
Dcaf6	A	G	1: 165,247,792 (GRCm39)	I147T	possibly damaging	Het
Ears2	T	C	7: 121,643,514 (GRCm39)		probably benign	Het
Fas	T	C	19: 34,304,540 (GRCm39)	V267A	probably damaging	Het
Fus	T	C	7: 127,584,746 (GRCm39)	L84P	probably damaging	Het
Gdap2	T	A	3: 100,077,317 (GRCm39)	M1K	probably null	Het
Gprc5b	T	A	7: 118,583,218 (GRCm39)	Q217L	probably benign	Het
Lrrc69	A	G	4: 14,704,001 (GRCm39)	I273T	possibly damaging	Het
Map4k4	C	A	1: 40,044,024 (GRCm39)	Q556K	possibly damaging	Het
Npy6r	T	A	18: 44,408,888 (GRCm39)	V103E	possibly damaging	Het
Or5b24	A	G	19: 12,912,111 (GRCm39)	Y3C	probably benign	Het
Shisa9	A	G	16: 12,085,638 (GRCm39)	T416A	probably damaging	Het
Slc26a9	C	A	1: 131,681,749 (GRCm39)		probably benign	Het
Sostdc1	G	T	12: 36,367,020 (GRCm39)		probably benign	Het
St18	T	A	1: 6,887,962 (GRCm39)	F510L	probably damaging	Het
Zdhhc7	A	G	8: 120,810,106 (GRCm39)		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
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
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'- TTGGCAGCGAAACCTACCTACGAG -3'
(R):5'- CCTTTCTGGACAGGCACGTTCTTAG -3'

Sequencing Primer
(F):5'- GGGTTCCTGAAACCTGTAAGC -3'
(R):5'- CAGGCACGTTCTTAGAAGTGTTC -3'

Posted On

2013-07-11