Mutagenetix > Incidental Mutation

Incidental Mutation 'R4952:Fyb1'

382099

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

042549-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6552334-6692794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6668292 bp (GRCm39)

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: 109,887,063 (GRCm39)		probably null	Het
4933421I07Rik	T	C	7: 42,097,083 (GRCm39)	Y76C	possibly damaging	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Ak9	A	G	10: 41,296,585 (GRCm39)	M1444V	probably benign	Het
Amfr	A	G	8: 94,699,787 (GRCm39)		probably benign	Het
Ankef1	A	G	2: 136,392,449 (GRCm39)	E546G	probably damaging	Het
Ankrd24	A	G	10: 81,482,982 (GRCm39)	M977V	probably benign	Het
Ap3m1	A	T	14: 21,090,134 (GRCm39)	S5T	probably benign	Het
Aqr	C	A	2: 113,940,418 (GRCm39)	D1243Y	probably damaging	Het
Arhgef2	T	C	3: 88,549,769 (GRCm39)	L591P	probably damaging	Het
Arid4a	C	A	12: 71,070,299 (GRCm39)	T70K	possibly damaging	Het
Asphd1	C	T	7: 126,547,857 (GRCm39)	A149T	probably benign	Het
Avpr1a	T	A	10: 122,285,659 (GRCm39)	M317K	probably damaging	Het
Birc2	T	C	9: 7,836,741 (GRCm39)	I109V	probably damaging	Het
Catsperd	A	G	17: 56,939,303 (GRCm39)	Y44C	probably damaging	Het
Crygb	T	G	1: 65,121,268 (GRCm39)	S20R	probably benign	Het
Cyp3a25	T	C	5: 145,928,334 (GRCm39)	N237S	probably benign	Het
Dkk3	C	T	7: 111,717,558 (GRCm39)	A304T	probably benign	Het
Dst	T	C	1: 34,310,503 (GRCm39)	L4101S	probably damaging	Het
Dysf	A	G	6: 84,126,968 (GRCm39)	N1407S	possibly damaging	Het
Epb41	A	G	4: 131,727,581 (GRCm39)	V265A	probably damaging	Het
Faim2	C	T	15: 99,419,109 (GRCm39)	E75K	possibly damaging	Het
Fam237b	T	A	5: 5,625,387 (GRCm39)	F28I	probably benign	Het
Fbn1	T	A	2: 125,159,454 (GRCm39)	D2208V	probably damaging	Het
Fbxo28	A	G	1: 182,153,950 (GRCm39)	S129P	probably damaging	Het
Fbxw14	T	A	9: 109,105,269 (GRCm39)	I299L	probably benign	Het
Fras1	C	T	5: 96,795,357 (GRCm39)	A1050V	probably benign	Het
Ghdc	A	T	11: 100,659,977 (GRCm39)	W257R	probably damaging	Het
Gm10719	T	C	9: 3,018,962 (GRCm39)	L69S	probably benign	Het
Gm12250	G	T	11: 58,079,210 (GRCm39)		noncoding transcript	Het
Gm4846	A	T	1: 166,311,503 (GRCm39)	F452Y	probably damaging	Het
Gpbp1	T	C	13: 111,577,284 (GRCm39)	D202G	probably damaging	Het
Gpd2	C	A	2: 57,197,025 (GRCm39)	Y193*	probably null	Het
Grhl2	G	T	15: 37,287,493 (GRCm39)	R229L	probably benign	Het
Gtf2a1	A	G	12: 91,542,523 (GRCm39)	F59L	possibly damaging	Het
Heatr1	G	T	13: 12,425,480 (GRCm39)	W640L	probably benign	Het
Kalrn	A	T	16: 34,177,785 (GRCm39)		probably null	Het
Keap1	T	C	9: 21,148,582 (GRCm39)	T142A	probably damaging	Het
Kpna2	G	A	11: 106,882,061 (GRCm39)	T255M	probably damaging	Het
Kpna3	A	G	14: 61,607,838 (GRCm39)	C456R	probably damaging	Het
Lama1	G	A	17: 68,074,561 (GRCm39)		probably null	Het
Lrrc37	T	C	11: 103,505,033 (GRCm39)	T2312A	possibly damaging	Het
Mag	C	A	7: 30,608,581 (GRCm39)	E178*	probably null	Het
Map3k13	A	G	16: 21,729,769 (GRCm39)	I467V	probably benign	Het
Mga	A	G	2: 119,733,782 (GRCm39)	E210G	probably damaging	Het
Msi2	C	T	11: 88,257,610 (GRCm39)		probably null	Het
Naa16	A	T	14: 79,582,525 (GRCm39)	D521E	probably damaging	Het
Nav2	C	T	7: 48,954,288 (GRCm39)		probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nek5	T	C	8: 22,586,815 (GRCm39)	K332R	probably benign	Het
Nek5	T	A	8: 22,569,104 (GRCm39)	I573L	probably benign	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Odad1	A	C	7: 45,591,615 (GRCm39)	E293A	probably damaging	Het
Or2w1	G	A	13: 21,317,514 (GRCm39)	V190I	probably benign	Het
Or5v1b	A	T	17: 37,841,641 (GRCm39)	T258S	possibly damaging	Het
Or6c204	T	A	10: 129,022,466 (GRCm39)	T275S	probably benign	Het
Or8b12b	T	A	9: 37,684,360 (GRCm39)	M135K	probably damaging	Het
Orai1	T	G	5: 123,167,313 (GRCm39)	V162G	probably damaging	Het
P2rx6	T	C	16: 17,385,308 (GRCm39)	S134P	probably damaging	Het
Pappa2	G	A	1: 158,684,706 (GRCm39)	T811I	probably null	Het
Pcdhga10	T	C	18: 37,880,213 (GRCm39)		probably benign	Het
Pex16	C	T	2: 92,209,405 (GRCm39)	R241*	probably null	Het
Plxnb1	T	C	9: 108,943,904 (GRCm39)	F1969L	probably damaging	Het
Postn	A	G	3: 54,297,736 (GRCm39)		probably benign	Het
Prdm15	A	T	16: 97,607,277 (GRCm39)	I752N	probably damaging	Het
Rasgef1c	A	T	11: 49,870,339 (GRCm39)	K468M	probably damaging	Het
Rbfox1	A	G	16: 7,094,952 (GRCm39)	S111G	probably benign	Het
Rbm28	T	C	6: 29,138,597 (GRCm39)	D405G	probably damaging	Het
Rell1	A	G	5: 64,097,010 (GRCm39)		probably benign	Het
Rfx3	A	G	19: 27,808,072 (GRCm39)	S224P	probably damaging	Het
Scarb2	A	T	5: 92,602,636 (GRCm39)	I260K	probably damaging	Het
Septin4	A	G	11: 87,458,598 (GRCm39)	N324S	probably benign	Het
Slc15a4	A	G	5: 127,680,901 (GRCm39)	F72L	probably damaging	Het
Spg7	C	A	8: 123,816,910 (GRCm39)	R534S	probably damaging	Het
Stoml2	T	C	4: 43,029,589 (GRCm39)	T164A	probably benign	Het
Syt11	C	T	3: 88,669,590 (GRCm39)	G101S	possibly damaging	Het
Traj12	A	G	14: 54,444,013 (GRCm39)		probably benign	Het
Traj7	A	T	14: 54,448,981 (GRCm39)		probably benign	Het
Tysnd1	C	T	10: 61,537,855 (GRCm39)	T175I	possibly damaging	Het
Usp48	T	G	4: 137,334,004 (GRCm39)	Y139*	probably null	Het
Vmn2r72	A	G	7: 85,400,317 (GRCm39)	L244P	probably benign	Het
Wasf1	C	A	10: 40,812,186 (GRCm39)	P325Q	unknown	Het
Zc3h18	T	A	8: 123,137,639 (GRCm39)		probably benign	Het
Zfp712	A	G	13: 67,188,905 (GRCm39)	S541P	possibly 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
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
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'- GTCAGAGCTAGACCTCCCTC -3'
(R):5'- AAGGCGAGCTCACATGACC -3'

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

Posted On

2016-04-27