Mutagenetix > Incidental Mutation

Incidental Mutation 'R5055:Fyb1'

390805

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

042645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5055 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

6552334-6692794 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to C at 6614630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153970 (fasta)

Gene Model

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

AlphaFold

O35601

Predicted Effect

probably benign
Transcript: ENSMUST00000090461

SMART Domains

Protein: ENSMUSP00000087947
Gene: ENSMUSG00000022148

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

98% (84/86)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	G	A	11: 46,013,996 (GRCm39)	V329I	probably damaging	Het
Adgrl3	C	A	5: 81,794,398 (GRCm39)	A541E	possibly damaging	Het
Agbl1	A	T	7: 76,063,325 (GRCm39)	I263F	probably damaging	Het
Ash1l	T	C	3: 88,930,519 (GRCm39)		probably null	Het
Bccip	A	G	7: 133,316,652 (GRCm39)	T91A	probably benign	Het
Bnc1	A	T	7: 81,624,163 (GRCm39)	F355I	probably damaging	Het
Bpifa2	A	T	2: 153,855,630 (GRCm39)	D185V	probably damaging	Het
Capn8	T	A	1: 182,399,526 (GRCm39)	V89D	probably damaging	Het
Cfap46	A	T	7: 139,241,106 (GRCm39)	M421K	probably damaging	Het
Chd2	A	T	7: 73,130,256 (GRCm39)	L800M	probably damaging	Het
Chd4	A	G	6: 125,077,949 (GRCm39)	D137G	possibly damaging	Het
Crtap	A	G	9: 114,219,208 (GRCm39)	Y154H	probably benign	Het
Ctdp1	T	A	18: 80,499,303 (GRCm39)	Q213L	probably damaging	Het
Cts6	T	C	13: 61,344,164 (GRCm39)	Y296C	probably damaging	Het
Daxx	G	T	17: 34,131,134 (GRCm39)	V354F	probably benign	Het
Dnah2	A	G	11: 69,411,599 (GRCm39)	I341T	possibly damaging	Het
Epha2	A	G	4: 141,036,380 (GRCm39)	D272G	probably benign	Het
Etfa	A	G	9: 55,407,417 (GRCm39)	V24A	probably damaging	Het
Fbxl7	C	A	15: 26,553,022 (GRCm39)	G82W	probably damaging	Het
Fcamr	G	A	1: 130,739,174 (GRCm39)	C158Y	probably damaging	Het
Gars1	G	A	6: 55,045,077 (GRCm39)	R454H	probably damaging	Het
Ghsr	T	C	3: 27,426,421 (GRCm39)	V159A	probably benign	Het
Glp1r	A	T	17: 31,137,861 (GRCm39)	Q97H	probably benign	Het
Gm27047	T	C	6: 130,606,909 (GRCm39)		noncoding transcript	Het
Igkv3-3	A	C	6: 70,664,223 (GRCm39)	I22L	probably benign	Het
Inpp5b	G	T	4: 124,636,824 (GRCm39)		probably null	Het
Ipo9	C	A	1: 135,330,097 (GRCm39)	E448*	probably null	Het
Itgb2l	A	T	16: 96,229,003 (GRCm39)	I400N	probably damaging	Het
Kat6b	T	A	14: 21,567,062 (GRCm39)	H40Q	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcnq2	G	T	2: 180,728,554 (GRCm39)		probably benign	Het
Klf7	T	C	1: 64,118,439 (GRCm39)	T53A	probably benign	Het
Kmt2a	A	G	9: 44,729,649 (GRCm39)		probably benign	Het
Lrp10	C	T	14: 54,705,802 (GRCm39)	R331C	probably benign	Het
Map4k5	A	T	12: 69,878,332 (GRCm39)	D289E	probably benign	Het
Mfsd4b2	A	T	10: 39,799,773 (GRCm39)	M43K	possibly damaging	Het
Msr1	T	G	8: 40,076,997 (GRCm39)	R138S	possibly damaging	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Myh9	G	A	15: 77,648,723 (GRCm39)	A1711V	probably benign	Het
Myo18b	A	G	5: 113,023,083 (GRCm39)		probably benign	Het
Nampt	A	T	12: 32,883,120 (GRCm39)	N102Y	possibly damaging	Het
Nell2	T	C	15: 95,371,460 (GRCm39)	I92V	probably benign	Het
Nes	A	G	3: 87,884,521 (GRCm39)	N883D	probably benign	Het
Neurl3	T	A	1: 36,312,463 (GRCm39)		probably benign	Het
Ocln	T	A	13: 100,675,930 (GRCm39)	T188S	probably benign	Het
Or2ag20	T	A	7: 106,464,937 (GRCm39)	M250K	probably damaging	Het
Or5m10	T	C	2: 85,717,585 (GRCm39)	F147S	probably benign	Het
Parp14	T	A	16: 35,664,733 (GRCm39)	Q1305L	probably benign	Het
Pde3a	C	T	6: 141,433,682 (GRCm39)	Q855*	probably null	Het
Pde4b	T	C	4: 102,052,311 (GRCm39)		probably benign	Het
Pdk2	T	C	11: 94,930,242 (GRCm39)	M65V	probably benign	Het
Phf21a	T	C	2: 92,182,201 (GRCm39)	S377P	probably damaging	Het
Plcb2	T	A	2: 118,548,703 (GRCm39)	T408S	probably benign	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ppp6r2	A	G	15: 89,167,152 (GRCm39)	D789G	probably benign	Het
Prdm16	T	C	4: 154,419,719 (GRCm39)	M897V	possibly damaging	Het
Prss57	A	G	10: 79,620,178 (GRCm39)		probably null	Het
Psd	G	T	19: 46,310,907 (GRCm39)	L381I	probably benign	Het
Ptprq	A	T	10: 107,370,540 (GRCm39)	D2050E	probably benign	Het
Rfc1	G	T	5: 65,423,505 (GRCm39)	N1034K	probably damaging	Het
Ryr3	C	T	2: 112,661,504 (GRCm39)	G1829S	probably benign	Het
Scaper	T	C	9: 55,767,003 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,351,632 (GRCm39)	I783T	probably damaging	Het
Slc28a1	A	G	7: 80,818,796 (GRCm39)	N583S	possibly damaging	Het
Slc35e3	C	T	10: 117,580,884 (GRCm39)	G140D	probably damaging	Het
Slc6a9	G	A	4: 117,725,347 (GRCm39)		probably null	Het
Sptlc1	A	G	13: 53,496,218 (GRCm39)	S376P	probably benign	Het
Sspo	G	A	6: 48,441,729 (GRCm39)	C1913Y	probably damaging	Het
Taar7b	A	T	10: 23,876,845 (GRCm39)	I337F	possibly damaging	Het
Tdpoz2	T	A	3: 93,559,235 (GRCm39)	I246F	probably damaging	Het
Trpa1	C	T	1: 14,946,183 (GRCm39)	V983M	probably damaging	Het
Trpm5	A	T	7: 142,626,521 (GRCm39)	M1112K	probably benign	Het
Tsbp1	G	A	17: 34,667,770 (GRCm39)	C154Y	possibly damaging	Het
Uso1	A	T	5: 92,340,594 (GRCm39)	K670I	probably benign	Het
Washc4	A	G	10: 83,392,771 (GRCm39)	D257G	probably damaging	Het
Wdr41	T	A	13: 95,151,725 (GRCm39)		probably null	Het
Zbtb17	A	G	4: 141,193,860 (GRCm39)	Q668R	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
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
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'- TGTTTTCATGGTTGGCAATCCC -3'
(R):5'- AACCTGGGTAAGATGGCTAATTG -3'

Sequencing Primer
(F):5'- ATGGTTGGCAATCCCACTGTAC -3'
(R):5'- AACAGTTTCCTCTATCGCAGGG -3'

Posted On

2016-06-06