Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Fyb'

710291

Institutional Source

Beutler Lab

Gene Symbol

Fyb

Ensembl Gene

ENSMUSG00000022148

Gene Name

FYN binding protein

Synonyms

B630013F22Rik, ADAP, FYB-120/130

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6522853-6663313 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6634816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 460 (D460G)

Ref Sequence

ENSEMBL: ENSMUSP00000087947 (fasta)

Gene Model

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

AlphaFold

O35601

Predicted Effect

probably benign
Transcript: ENSMUST00000090461
AA Change: D460G

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148
AA Change: D460G

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

noncoding transcript
Transcript: ENSMUST00000162430

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,161,192	I554T	possibly damaging	Het
4930435E12Rik	T	G	16: 38,828,045	D234A	probably benign	Het
Adamts7	C	A	9: 90,195,205	C1308*	probably null	Het
Ank2	A	G	3: 126,959,717	V305A	probably benign	Het
Apob	A	G	12: 8,006,399	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,828,139	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,480,631	Y29*	probably null	Het
Card11	C	A	5: 140,885,521	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,455,422	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,856,165	R211W	probably benign	Het
Cda	T	G	4: 138,351,287	I55L	probably benign	Het
Cdkl3	A	C	11: 52,035,952	E577D	probably benign	Het
Cel	T	C	2: 28,560,575	D146G	probably damaging	Het
Cmya5	A	G	13: 93,094,372	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,528,174	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473	Q1045*	probably null	Het
Csmd1	T	C	8: 15,984,756	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,999,340	R22C	probably benign	Het
Ddit4	A	G	10: 59,951,356	S53P	probably damaging	Het
Ddx52	G	T	11: 83,952,270	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,712,765	L3677I	probably damaging	Het
Dscam	T	C	16: 97,039,003	T135A	probably benign	Het
Espl1	T	A	15: 102,298,750	D216E	probably damaging	Het
Fsip2	T	A	2: 82,989,449	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,019,971		probably benign	Het
Gm3264	T	C	14: 4,871,178	I8T	possibly damaging	Het
Gm35339	A	G	15: 76,356,167	T352A		Het
Gsdmc	A	T	15: 63,803,637	Y110N	possibly damaging	Het
H13	A	G	2: 152,695,493	N286S	probably benign	Het
Heatr1	A	G	13: 12,406,542	D441G	probably damaging	Het
Hist1h2aa	A	T	13: 23,934,696	I79F	probably damaging	Het
Hps6	A	G	19: 46,005,910	D762G	probably damaging	Het
Hyou1	C	A	9: 44,381,515	Q141K	probably benign	Het
Lpin3	T	C	2: 160,897,073	I267T	probably benign	Het
Mdc1	A	G	17: 35,850,504	K770E	probably benign	Het
Mlh3	C	T	12: 85,269,370	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,537,407	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,453,594	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,964,012	G527D	probably damaging	Het
Nop9	A	G	14: 55,751,127	E342G	probably benign	Het
Ntn1	C	A	11: 68,385,187	G312C	probably damaging	Het
Olfr288	C	T	15: 98,187,605	S64N	probably damaging	Het
Olfr474	T	A	7: 107,955,573	*311K	probably null	Het
Opcml	T	C	9: 28,675,163	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,426	Y193S	probably damaging	Het
Pabpc4l	A	T	3: 46,446,702	V169E	probably damaging	Het
Pde3a	A	G	6: 141,492,256	D1017G	probably benign	Het
Plagl2	C	T	2: 153,232,318	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,322,728	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,749,416	V571A	possibly damaging	Het
Pnma2	A	G	14: 66,915,922		probably benign	Het
Rnf123	T	A	9: 108,052,268	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Slc22a23	T	C	13: 34,344,578	S74G	probably benign	Het
Slc36a4	T	C	9: 15,734,267	I330T	probably damaging	Het
Snrk	A	T	9: 122,166,397	D414V	probably benign	Het
Snrnp200	G	A	2: 127,238,058		probably null	Het
Spata31d1b	T	C	13: 59,715,589	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,055,278	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,462,920	Q858K	probably damaging	Het
Tial1	A	G	7: 128,442,485	C102R	unknown	Het
Ugt8a	A	T	3: 125,871,614	D411E	probably benign	Het
Usp34	A	G	11: 23,449,223	D2404G		Het
Vmn1r10	A	C	6: 57,113,848	I142L	probably benign	Het
Wdr66	T	C	5: 123,288,815	L919S	probably damaging	Het
Xpo7	A	T	14: 70,688,293	D435E	probably damaging	Het
Zmym1	A	G	4: 127,058,890	S33P	probably 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
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
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
R9739:Fyb	UTSW	15	6640582	missense	probably benign	0.00
Z1088:Fyb	UTSW	15	6658540	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- GCCAGAGTTCTCACATCTTTAGC -3'
(R):5'- TGTCAACAGAAAATCCCTGGG -3'

Sequencing Primer
(F):5'- AGAGTTCTCACATCTTTAGCTTCTTG -3'
(R):5'- ATCCCATTTCATTTTTGATGGTAGG -3'

Posted On

2022-04-18