Mutagenetix > Incidental Mutation

Incidental Mutation 'R4952:Fyb'

382099

Institutional Source

Beutler Lab

Gene Symbol

Fyb

Ensembl Gene

ENSMUSG00000022148

Gene Name

FYN binding protein

Synonyms

B630013F22Rik, ADAP, FYB-120/130

MMRRC Submission

042549-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6522853-6663313 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6638811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 495 (T495K)

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: T495K

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

SMART Domains

Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: T495K

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

0.1631

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.0%

Validation Efficiency

99% (93/94)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,739,197		probably null	Het
4933421I07Rik	T	C	7: 42,447,659	Y76C	possibly damaging	Het
Adcy4	C	T	14: 55,779,029	D322N	probably damaging	Het
Ak9	A	G	10: 41,420,589	M1444V	probably benign	Het
Amfr	A	G	8: 93,973,159		probably benign	Het
Ankef1	A	G	2: 136,550,529	E546G	probably damaging	Het
Ankrd24	A	G	10: 81,647,148	M977V	probably benign	Het
Ap3m1	A	T	14: 21,040,066	S5T	probably benign	Het
Aqr	C	A	2: 114,109,937	D1243Y	probably damaging	Het
Arhgef2	T	C	3: 88,642,462	L591P	probably damaging	Het
Arid4a	C	A	12: 71,023,525	T70K	possibly damaging	Het
Asphd1	C	T	7: 126,948,685	A149T	probably benign	Het
Avpr1a	T	A	10: 122,449,754	M317K	probably damaging	Het
Birc2	T	C	9: 7,836,740	I109V	probably damaging	Het
Catsperd	A	G	17: 56,632,303	Y44C	probably damaging	Het
Ccdc114	A	C	7: 45,942,191	E293A	probably damaging	Het
Crygb	T	G	1: 65,082,109	S20R	probably benign	Het
Cyp3a25	T	C	5: 145,991,524	N237S	probably benign	Het
Dkk3	C	T	7: 112,118,351	A304T	probably benign	Het
Dst	T	C	1: 34,271,422	L4101S	probably damaging	Het
Dysf	A	G	6: 84,149,986	N1407S	possibly damaging	Het
Epb41	A	G	4: 132,000,270	V265A	probably damaging	Het
Faim2	C	T	15: 99,521,228	E75K	possibly damaging	Het
Fbn1	T	A	2: 125,317,534	D2208V	probably damaging	Het
Fbxo28	A	G	1: 182,326,385	S129P	probably damaging	Het
Fbxw14	T	A	9: 109,276,201	I299L	probably benign	Het
Fras1	C	T	5: 96,647,498	A1050V	probably benign	Het
Ghdc	A	T	11: 100,769,151	W257R	probably damaging	Het
Gm10719	T	C	9: 3,018,962	L69S	probably benign	Het
Gm11492	A	G	11: 87,567,772	N324S	probably benign	Het
Gm12250	G	T	11: 58,188,384		noncoding transcript	Het
Gm4846	A	T	1: 166,483,934	F452Y	probably damaging	Het
Gm8773	T	A	5: 5,575,387	F28I	probably benign	Het
Gm884	T	C	11: 103,614,207	T2312A	possibly damaging	Het
Gpbp1	T	C	13: 111,440,750	D202G	probably damaging	Het
Gpd2	C	A	2: 57,307,013	Y193*	probably null	Het
Grhl2	G	T	15: 37,287,249	R229L	probably benign	Het
Gtf2a1	A	G	12: 91,575,749	F59L	possibly damaging	Het
Heatr1	G	T	13: 12,410,599	W640L	probably benign	Het
Kalrn	A	T	16: 34,357,415		probably null	Het
Keap1	T	C	9: 21,237,286	T142A	probably damaging	Het
Kpna2	G	A	11: 106,991,235	T255M	probably damaging	Het
Kpna3	A	G	14: 61,370,389	C456R	probably damaging	Het
Lama1	G	A	17: 67,767,566		probably null	Het
Mag	C	A	7: 30,909,156	E178*	probably null	Het
Map3k13	A	G	16: 21,911,019	I467V	probably benign	Het
Mga	A	G	2: 119,903,301	E210G	probably damaging	Het
Msi2	C	T	11: 88,366,784		probably null	Het
Naa16	A	T	14: 79,345,085	D521E	probably damaging	Het
Nav2	C	T	7: 49,304,540		probably benign	Het
Nek10	T	A	14: 14,860,986	L513M	possibly damaging	Het
Nek5	T	C	8: 22,096,799	K332R	probably benign	Het
Nek5	T	A	8: 22,079,088	I573L	probably benign	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,213,026		probably benign	Het
Olfr111	A	T	17: 37,530,750	T258S	possibly damaging	Het
Olfr263	G	A	13: 21,133,344	V190I	probably benign	Het
Olfr773	T	A	10: 129,186,597	T275S	probably benign	Het
Olfr875	T	A	9: 37,773,064	M135K	probably damaging	Het
Orai1	T	G	5: 123,029,250	V162G	probably damaging	Het
P2rx6	T	C	16: 17,567,444	S134P	probably damaging	Het
Pappa2	G	A	1: 158,857,136	T811I	probably null	Het
Pcdhga10	T	C	18: 37,747,160		probably benign	Het
Pex16	C	T	2: 92,379,060	R241*	probably null	Het
Plxnb1	T	C	9: 109,114,836	F1969L	probably damaging	Het
Postn	A	G	3: 54,390,315		probably benign	Het
Prdm15	A	T	16: 97,806,077	I752N	probably damaging	Het
Rasgef1c	A	T	11: 49,979,512	K468M	probably damaging	Het
Rbfox1	A	G	16: 7,277,088	S111G	probably benign	Het
Rbm28	T	C	6: 29,138,598	D405G	probably damaging	Het
Rell1	A	G	5: 63,939,667		probably benign	Het
Rfx3	A	G	19: 27,830,672	S224P	probably damaging	Het
Scarb2	A	T	5: 92,454,777	I260K	probably damaging	Het
Slc15a4	A	G	5: 127,603,837	F72L	probably damaging	Het
Spg7	C	A	8: 123,090,171	R534S	probably damaging	Het
Stoml2	T	C	4: 43,029,589	T164A	probably benign	Het
Syt11	C	T	3: 88,762,283	G101S	possibly damaging	Het
Traj12	A	G	14: 54,206,556		probably benign	Het
Traj7	A	T	14: 54,211,524		probably benign	Het
Tysnd1	C	T	10: 61,702,076	T175I	possibly damaging	Het
Usp48	T	G	4: 137,606,693	Y139*	probably null	Het
Vmn2r72	A	G	7: 85,751,109	L244P	probably benign	Het
Wasf1	C	A	10: 40,936,190	P325Q	unknown	Het
Zc3h18	T	A	8: 122,410,900		probably benign	Het
Zfp712	A	G	13: 67,040,841	S541P	possibly damaging	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
baddie	UTSW	15	6652491	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
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
R5719:Fyb	UTSW	15	6580869	nonsense	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
R8841:Fyb	UTSW	15	6652491	missense	probably damaging	1.00
R9103:Fyb	UTSW	15	6643751	missense	possibly damaging	0.66
R9256:Fyb	UTSW	15	6644877	missense	possibly damaging	0.61
R9385:Fyb	UTSW	15	6634816	missense	probably benign	0.39
Z1088:Fyb	UTSW	15	6658540	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- GTCAGAGCTAGACCTCCCTC -3'
(R):5'- AAGGCGAGCTCACATGACC -3'

Sequencing Primer
(F):5'- TAGTAAGACCCCCTGATTGTCAG -3'
(R):5'- GAGCTCACATGACCCCCTTG -3'

Posted On

2016-04-27