Mutagenetix > Incidental Mutation

Incidental Mutation 'R0364:Fyb1'

30247

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

038570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6552334-6692794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6610272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 282 (K282E)

Ref Sequence

ENSEMBL: ENSMUSP00000087947 (fasta)

Gene Model

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

AlphaFold

O35601

Predicted Effect

probably damaging
Transcript: ENSMUST00000090461
AA Change: K282E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: K282E

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

0.0732

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,310,553 (GRCm39)		probably benign	Het
Ano7	A	G	1: 93,316,380 (GRCm39)	D221G	probably benign	Het
Arhgef12	A	T	9: 42,929,697 (GRCm39)	N199K	probably damaging	Het
Arpc2	A	G	1: 74,276,046 (GRCm39)	N26S	probably null	Het
Camta2	G	A	11: 70,574,136 (GRCm39)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,627,282 (GRCm39)	N665I	probably damaging	Het
Ccdc178	C	T	18: 22,048,119 (GRCm39)	R757H	probably damaging	Het
Cfap52	A	C	11: 67,844,436 (GRCm39)	I93S	possibly damaging	Het
Cmklr1	A	T	5: 113,752,578 (GRCm39)	L141H	probably damaging	Het
Crybb3	T	A	5: 113,223,819 (GRCm39)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,504,155 (GRCm39)	P97S	probably benign	Het
Cubn	T	C	2: 13,315,318 (GRCm39)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,253 (GRCm39)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,290,117 (GRCm39)	N223K	probably benign	Het
Dennd2a	T	C	6: 39,485,233 (GRCm39)	T349A	probably benign	Het
Dnah12	A	G	14: 26,445,628 (GRCm39)	T730A	probably benign	Het
Dock5	G	A	14: 68,060,129 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,221,097 (GRCm39)		probably benign	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,748,663 (GRCm39)	K503*	probably null	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Eng	T	C	2: 32,569,149 (GRCm39)	S559P	probably benign	Het
Epc2	T	A	2: 49,427,145 (GRCm39)	V563E	possibly damaging	Het
Fbxw17	T	C	13: 50,586,477 (GRCm39)	S40P	possibly damaging	Het
Flt4	A	T	11: 49,527,818 (GRCm39)	M924L	probably benign	Het
Gabpa	T	A	16: 84,654,275 (GRCm39)	N317K	possibly damaging	Het
Gli3	G	T	13: 15,899,349 (GRCm39)	G912V	probably benign	Het
Gm10295	C	A	7: 71,000,361 (GRCm39)	C73F	unknown	Het
Gm10382	G	T	5: 125,466,728 (GRCm39)		probably benign	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Gpr146	G	A	5: 139,364,933 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,723,594 (GRCm39)	Y628C	probably damaging	Het
Hexa	A	G	9: 59,471,218 (GRCm39)	N491D	probably benign	Het
Hexd	T	A	11: 121,102,969 (GRCm39)	H62Q	probably benign	Het
Hpx	G	T	7: 105,245,471 (GRCm39)	Q101K	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	A	T	8: 82,723,943 (GRCm39)	T492S	probably benign	Het
Iqgap2	A	C	13: 95,867,783 (GRCm39)		probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Itga9	A	G	9: 118,670,210 (GRCm39)	T177A	probably benign	Het
Itpkc	A	C	7: 26,927,174 (GRCm39)	S247A	possibly damaging	Het
Kirrel1	T	C	3: 86,997,106 (GRCm39)	Y287C	probably damaging	Het
Kiz	T	G	2: 146,784,076 (GRCm39)	S536R	probably benign	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Kprp	A	T	3: 92,731,642 (GRCm39)	Y469*	probably null	Het
Ksr1	A	T	11: 78,919,851 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,391,466 (GRCm39)	V1320I	possibly damaging	Het
Ltf	A	T	9: 110,854,235 (GRCm39)	N350I	probably benign	Het
Msl3l2	G	A	10: 55,991,947 (GRCm39)	R224Q	possibly damaging	Het
Myh6	A	T	14: 55,185,804 (GRCm39)	Y1490*	probably null	Het
Necap1	A	G	6: 122,857,728 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,332,783 (GRCm39)	K810*	probably null	Het
Nkx6-3	A	G	8: 23,647,722 (GRCm39)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,004,830 (GRCm39)		probably benign	Het
Obscn	G	A	11: 59,019,107 (GRCm39)	A969V	probably benign	Het
Or11a4	T	C	17: 37,536,934 (GRCm39)	L306P	possibly damaging	Het
Or7g32	G	A	9: 19,389,268 (GRCm39)	Q90*	probably null	Het
Or8b40	A	G	9: 38,027,325 (GRCm39)	T78A	probably benign	Het
Or8k33	A	T	2: 86,384,123 (GRCm39)	L115Q	probably damaging	Het
Pcdhb17	C	A	18: 37,618,888 (GRCm39)	A226E	possibly damaging	Het
Phldb1	A	T	9: 44,610,632 (GRCm39)		probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156 (GRCm39)	Q288*	probably null	Het
Prr14	G	A	7: 127,073,751 (GRCm39)	R205H	probably benign	Het
Ptpn13	C	A	5: 103,681,214 (GRCm39)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,735,992 (GRCm39)	V62D	probably damaging	Het
Rab37	G	T	11: 115,047,790 (GRCm39)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,080,069 (GRCm39)	S52P	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Scn5a	T	C	9: 119,351,665 (GRCm39)	D772G	probably damaging	Het
Slc7a5	A	G	8: 122,611,754 (GRCm39)	F425L	probably benign	Het
Slk	T	A	19: 47,608,628 (GRCm39)	L527*	probably null	Het
Stpg4	T	A	17: 87,697,142 (GRCm39)		probably null	Het
Taar6	C	A	10: 23,861,046 (GRCm39)	V167L	probably benign	Het
Tas2r123	T	A	6: 132,824,644 (GRCm39)	S180R	probably benign	Het
Tmc2	C	T	2: 130,044,023 (GRCm39)	R86W	probably benign	Het
Tmem200c	T	A	17: 69,147,543 (GRCm39)	V42E	probably damaging	Het
Trhde	T	C	10: 114,338,887 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,034,249 (GRCm39)	I53N	probably benign	Het
Tshz3	A	G	7: 36,469,958 (GRCm39)	E649G	probably benign	Het
Ttll7	C	A	3: 146,650,936 (GRCm39)	R719S	possibly damaging	Het
Utp4	T	C	8: 107,625,169 (GRCm39)		probably benign	Het
Vmn1r35	A	G	6: 66,655,827 (GRCm39)	I281T	probably damaging	Het
Vps39	T	G	2: 120,176,119 (GRCm39)	K76T	probably damaging	Het
Whamm	A	G	7: 81,243,799 (GRCm39)	T674A	probably benign	Het
Zbtb16	A	G	9: 48,654,876 (GRCm39)		probably benign	Het
Zfp623	T	C	15: 75,820,510 (GRCm39)	S489P	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
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
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'- AACACTTCTAAGAACGTGCCTGTCC -3'
(R):5'- TGTGTGAGCAAACCACAGCTACC -3'

Sequencing Primer
(F):5'- ACGTGCCTGTCCAGAAAG -3'
(R):5'- TGCAGAGTCAGCCTTTCG -3'

Posted On

2013-04-24