Mutagenetix > Incidental Mutations

Incidental Mutation 'R5719:Fyb'

451375

Institutional Source

Beutler Lab

Gene Symbol

Fyb

Ensembl Gene

ENSMUSG00000022148

Gene Name

FYN binding protein

Synonyms

B630013F22Rik, ADAP, FYB-120/130

MMRRC Submission

043339-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6522853-6663313 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 6580869 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 308 (K308*)

Ref Sequence

ENSEMBL: ENSMUSP00000087947 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000090461
AA Change: K308*

SMART Domains

Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: K308*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (79/81)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,273,245	H1137Q	probably damaging	Het
A130051J06Rik	C	T	15: 95,790,760		probably benign	Het
A630001G21Rik	T	A	1: 85,723,385	R110W	probably benign	Het
Abca4	T	C	3: 122,135,266		probably null	Het
Abcc3	T	C	11: 94,351,068	N1379S	probably damaging	Het
Actrt3	A	C	3: 30,598,127	F273V	probably benign	Het
Adam22	T	C	5: 8,367,217	D75G	probably benign	Het
Armc4	G	T	18: 7,211,496	Q793K	probably benign	Het
Ash1l	C	A	3: 89,054,498	D2392E	possibly damaging	Het
Ash1l	T	C	3: 89,058,626	I2445T	probably damaging	Het
Cacna2d2	A	G	9: 107,524,652	I762V	probably benign	Het
Ccdc127	T	A	13: 74,357,068		probably benign	Het
Ccdc91	C	G	6: 147,575,503	L230V	unknown	Het
Cdk13	A	G	13: 17,719,655	I1129T	probably damaging	Het
Cnot1	C	T	8: 95,744,296	R1308H	possibly damaging	Het
Crhr2	T	C	6: 55,103,222	H144R	probably damaging	Het
Dnmt1	T	C	9: 20,912,595	N993S	possibly damaging	Het
Eif4g1	T	A	16: 20,689,011	V1182D	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fam234a	T	A	17: 26,214,653	Q399L	possibly damaging	Het
Gfral	C	T	9: 76,197,046	R228Q	probably benign	Het
Gm10309	A	T	17: 86,498,993		probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm5501	G	A	18: 9,917,417		noncoding transcript	Het
Gm6309	A	T	5: 146,168,182	V307D	probably benign	Het
Gm9871	T	A	6: 101,796,187		noncoding transcript	Het
Greb1l	G	A	18: 10,542,427	E1341K	probably damaging	Het
Herc3	T	A	6: 58,894,543	V70E	possibly damaging	Het
Hes7	A	G	11: 69,121,589	E41G	probably damaging	Het
Ifi27l2b	T	C	12: 103,455,787	D106G	unknown	Het
Igfbp6	A	T	15: 102,148,181	Y184F	probably damaging	Het
Isyna1	A	G	8: 70,594,702	Y25C	probably damaging	Het
Kcng3	G	T	17: 83,631,134	T162K	possibly damaging	Het
Krt36	T	C	11: 100,104,161	D195G	possibly damaging	Het
Lrwd1	A	T	5: 136,132,239		probably null	Het
Lsg1	C	T	16: 30,561,775	A615T	probably benign	Het
Myo5a	A	T	9: 75,151,931	E480D	probably damaging	Het
Myrf	T	A	19: 10,216,723	D690V	probably damaging	Het
N4bp1	T	C	8: 86,851,684	I684M	probably damaging	Het
Nlrc3	C	T	16: 3,963,725	A607T	probably damaging	Het
Nuak1	A	T	10: 84,409,720	I87N	probably damaging	Het
Olfr1131	T	C	2: 87,629,131		probably null	Het
Olfr490	T	G	7: 108,286,392	T245P	probably damaging	Het
Olfr878	A	T	9: 37,919,351	E236D	probably damaging	Het
Osbpl9	T	A	4: 109,062,566	R689*	probably null	Het
Ppargc1b	T	A	18: 61,307,568	M744L	probably benign	Het
Prss40	A	T	1: 34,552,517		probably benign	Het
Ptprd	T	A	4: 76,054,602		probably null	Het
Rft1	T	C	14: 30,663,226		probably benign	Het
Rftn2	C	T	1: 55,214,286	V53I	probably damaging	Het
Rnaset2a	T	C	17: 8,132,047	Y167C	probably damaging	Het
Schip1	T	C	3: 68,408,227		probably benign	Het
Scn5a	A	C	9: 119,530,052	L643R	possibly damaging	Het
Shroom3	T	A	5: 92,943,018	M1128K	probably benign	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc14a2	A	G	18: 78,209,042	L18P	probably benign	Het
Slc22a3	C	T	17: 12,423,804	V509M	probably damaging	Het
Slc7a5	A	C	8: 121,883,642	F478V	probably benign	Het
Smc1b	T	A	15: 85,096,658	N803I	probably benign	Het
Snf8	T	A	11: 96,041,725	N115K	probably damaging	Het
Stox2	T	A	8: 47,413,137	K57*	probably null	Het
Tmem248	T	A	5: 130,229,588	F41I	probably damaging	Het
Tmprss7	T	C	16: 45,686,430	S90G	probably damaging	Het
Top3b	T	C	16: 16,885,836	V285A	probably damaging	Het
Tsen15	T	C	1: 152,371,783	T153A	probably damaging	Het
Usp34	T	G	11: 23,354,846	S360A	probably benign	Het
Wdr24	T	C	17: 25,828,340		probably null	Het
Zbtb2	G	A	10: 4,369,456	T190I	probably benign	Het
Zranb3	T	C	1: 127,963,876	S788G	probably benign	Het

Other mutations in Fyb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Fyb	APN	15	6580777	missense	probably damaging	0.99
IGL00801:Fyb	APN	15	6644824	missense	possibly damaging	0.86
IGL00974:Fyb	APN	15	6642585	unclassified	probably benign
IGL01377:Fyb	APN	15	6580320	missense	probably benign	0.01
IGL01982:Fyb	APN	15	6580177	missense	probably null	0.99
IGL02173:Fyb	APN	15	6580695	missense	probably benign	0.00
IGL02177:Fyb	APN	15	6658566	critical splice donor site	probably null
IGL02345:Fyb	APN	15	6619662	missense	possibly damaging	0.94
IGL02695:Fyb	APN	15	6580921	missense	probably damaging	1.00
IGL02820:Fyb	APN	15	6658559	missense	possibly damaging	0.65
IGL02867:Fyb	APN	15	6580046	missense	probably damaging	1.00
luegner	UTSW	15	6580869	nonsense	probably null
uebeltaeter	UTSW	15	6638907	missense	probably damaging	1.00
P0023:Fyb	UTSW	15	6651854	missense	probably damaging	1.00
R0028:Fyb	UTSW	15	6644914	intron	probably benign
R0364:Fyb	UTSW	15	6580791	missense	probably damaging	1.00
R0507:Fyb	UTSW	15	6634816	missense	probably benign	0.39
R0588:Fyb	UTSW	15	6580459	missense	probably benign	0.03
R0742:Fyb	UTSW	15	6634816	missense	probably benign	0.39
R0930:Fyb	UTSW	15	6638828	missense	probably damaging	1.00
R1184:Fyb	UTSW	15	6638900	missense	probably damaging	1.00
R1446:Fyb	UTSW	15	6652466	missense	probably benign	0.02
R1481:Fyb	UTSW	15	6619647	missense	probably benign	0.01
R1711:Fyb	UTSW	15	6580479	missense	probably damaging	1.00
R2041:Fyb	UTSW	15	6644787	missense	possibly damaging	0.78
R2176:Fyb	UTSW	15	6579954	missense	probably damaging	1.00
R2224:Fyb	UTSW	15	6652383	missense	probably damaging	1.00
R2372:Fyb	UTSW	15	6651907	splice site	probably benign
R3236:Fyb	UTSW	15	6630116	missense	probably damaging	0.96
R4117:Fyb	UTSW	15	6630116	missense	probably damaging	0.96
R4181:Fyb	UTSW	15	6580923	missense	probably benign	0.00
R4322:Fyb	UTSW	15	6580819	missense	possibly damaging	0.84
R4952:Fyb	UTSW	15	6638811	missense	probably damaging	1.00
R4981:Fyb	UTSW	15	6646611	splice site	probably benign
R5055:Fyb	UTSW	15	6585149	unclassified	probably benign
R5368:Fyb	UTSW	15	6580678	splice site	probably null
R5822:Fyb	UTSW	15	6663226	unclassified	probably benign
R6064:Fyb	UTSW	15	6638868	missense	probably damaging	1.00
R6929:Fyb	UTSW	15	6638907	missense	probably damaging	1.00
R7125:Fyb	UTSW	15	6644856	missense	possibly damaging	0.77
R7243:Fyb	UTSW	15	6643699	missense	probably benign	0.19
R7748:Fyb	UTSW	15	6638826	missense	probably damaging	1.00
R7750:Fyb	UTSW	15	6660703	missense	probably damaging	1.00
R7902:Fyb	UTSW	15	6660716	critical splice donor site	probably null
R8182:Fyb	UTSW	15	6651812	missense	probably benign
Z1088:Fyb	UTSW	15	6658540	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- AAGTTCACCCTTTCCTGGAGTG -3'
(R):5'- ACTCAGTTGTGTGAGCAAACC -3'

Sequencing Primer
(F):5'- CCTTTCCTGGAGTGGTTCTGAAAC -3'
(R):5'- CAACTCACTGTTTGCAGAGTCAG -3'

Posted On

2017-01-03