Mutagenetix > Incidental Mutation

Incidental Mutation 'R1184:Fyb1'

101976

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

039256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6552334-6692794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6668381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 525 (I525F)

Ref Sequence

ENSEMBL: ENSMUSP00000087947 (fasta)

Gene Model

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

AlphaFold

O35601

Predicted Effect

probably damaging
Transcript: ENSMUST00000090461
AA Change: I525F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: I525F

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: 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

probably benign
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

Meta Mutation Damage Score

0.5764

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (83/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,137,894 (GRCm39)	R7G	probably damaging	Het
Ahdc1	T	A	4: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alkal1	A	G	1: 6,459,712 (GRCm39)	Y96C	probably damaging	Het
Anxa2r1	A	T	13: 120,496,667 (GRCm39)	N67K	probably benign	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Bmp2	T	C	2: 133,403,388 (GRCm39)	V313A	probably damaging	Het
Cacna1b	C	T	2: 24,577,757 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,140,876 (GRCm39)	T141A	probably damaging	Het
Ccdc57	A	G	11: 120,764,637 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,970,183 (GRCm39)		probably null	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Chd6	G	C	2: 160,872,722 (GRCm39)	P286R	probably damaging	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Coq4	G	A	2: 29,678,346 (GRCm39)		probably benign	Het
Cplane1	G	T	15: 8,245,971 (GRCm39)	V1448L	probably benign	Het
Crtc2	T	A	3: 90,169,940 (GRCm39)	Y445*	probably null	Het
Dapk1	A	T	13: 60,844,112 (GRCm39)	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,270,204 (GRCm39)		probably null	Het
Dcun1d4	T	C	5: 73,668,455 (GRCm39)		probably benign	Het
Depdc7	A	T	2: 104,560,523 (GRCm39)		probably benign	Het
Dna2	A	G	10: 62,794,977 (GRCm39)	D416G	probably benign	Het
Dnah2	A	T	11: 69,390,016 (GRCm39)	I743N	probably damaging	Het
Dnah9	A	G	11: 65,975,438 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,846,999 (GRCm39)	S877P	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Epha5	A	T	5: 84,219,134 (GRCm39)		probably null	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fyco1	A	G	9: 123,648,218 (GRCm39)	F1239L	probably damaging	Het
Gcdh	T	C	8: 85,620,071 (GRCm39)		probably benign	Het
Gk5	T	C	9: 96,032,473 (GRCm39)		probably benign	Het
Grm1	A	G	10: 10,595,778 (GRCm39)	Y617H	probably benign	Het
Gvin-ps3	A	G	7: 105,683,159 (GRCm39)	V32A	probably benign	Het
Hhipl2	A	T	1: 183,206,042 (GRCm39)	I131L	probably damaging	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lrig2	T	A	3: 104,398,227 (GRCm39)	I301F	possibly damaging	Het
Man2a2	A	T	7: 80,012,713 (GRCm39)	I600N	possibly damaging	Het
Mylk2	G	C	2: 152,755,661 (GRCm39)		probably null	Het
Myo6	C	T	9: 80,193,664 (GRCm39)	Q870*	probably null	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Neb	G	A	2: 52,153,959 (GRCm39)	T2384M	probably damaging	Het
Nek10	A	G	14: 14,931,325 (GRCm38)		probably benign	Het
Or11h23	A	C	14: 50,948,071 (GRCm39)	T95P	probably benign	Het
Or4c111	A	G	2: 88,844,057 (GRCm39)	M117T	probably damaging	Het
Or5an6	T	C	19: 12,372,221 (GRCm39)	V198A	probably benign	Het
Or5b108	T	G	19: 13,168,739 (GRCm39)	L236R	probably damaging	Het
Pclo	A	G	5: 14,572,276 (GRCm39)	T554A	unknown	Het
Perm1	C	A	4: 156,301,771 (GRCm39)	T105K	probably damaging	Het
Pik3r1	T	C	13: 101,822,866 (GRCm39)		probably null	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ptpn12	A	C	5: 21,203,354 (GRCm39)	S475A	possibly damaging	Het
Ptprt	A	G	2: 161,769,692 (GRCm39)	V391A	possibly damaging	Het
Rac2	T	G	15: 78,450,145 (GRCm39)	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,888,676 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sebox	A	T	11: 78,394,675 (GRCm39)	T47S	probably damaging	Het
Sema4b	A	G	7: 79,874,388 (GRCm39)	T593A	probably benign	Het
Serpina3a	C	T	12: 104,082,787 (GRCm39)	Q187*	probably null	Het
Serpinb1a	T	C	13: 33,027,199 (GRCm39)	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,443,757 (GRCm39)	E259A	probably benign	Het
Slc30a3	T	A	5: 31,247,510 (GRCm39)	H44L	probably damaging	Het
Smarca2	T	C	19: 26,748,333 (GRCm39)		probably benign	Het
Snrnp200	T	A	2: 127,078,737 (GRCm39)	C1801S	probably damaging	Het
Soat1	G	A	1: 156,269,944 (GRCm39)		probably null	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Tbck	T	A	3: 132,543,733 (GRCm39)	H861Q	probably benign	Het
Tgfbrap1	G	A	1: 43,088,856 (GRCm39)	T849M	possibly damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Trim36	T	C	18: 46,329,318 (GRCm39)	T41A	probably damaging	Het
Trmt112	C	A	19: 6,887,721 (GRCm39)		probably benign	Het
Trpc4ap	A	G	2: 155,486,990 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ttn	A	T	2: 76,691,776 (GRCm39)		probably benign	Het
Txndc11	C	T	16: 10,946,364 (GRCm39)	R149Q	probably benign	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Usp30	G	A	5: 114,241,888 (GRCm39)		probably null	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vps33b	T	A	7: 79,932,234 (GRCm39)	D135E	probably benign	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		probably benign	Het
Wdr81	G	T	11: 75,343,809 (GRCm39)	P486Q	probably damaging	Het
Zfp788	T	C	7: 41,297,750 (GRCm39)	Y129H	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
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'- ACACACCAGGAGTGACTGTTGTGG -3'
(R):5'- cagacacCCAATCGAGGGAAagag -3'

Sequencing Primer
(F):5'- CAGGAGTGACTGTTGTGGAATTATTG -3'
(R):5'- agagagggagggagggag -3'

Posted On

2014-01-15