Mutagenetix > Incidental Mutation

Incidental Mutation 'R0723:Fyb2'

63594

Institutional Source

Beutler Lab

Gene Symbol

Fyb2

Ensembl Gene

ENSMUSG00000078612

Gene Name

FYN binding protein 2

Synonyms

1700024P16Rik

MMRRC Submission

038905-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0723 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

104770653-104874060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104873063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 784 (V784I)

Ref Sequence

ENSEMBL: ENSMUSP00000102415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106803] [ENSMUST00000106804]

AlphaFold

A2A995

Predicted Effect

probably benign
Transcript: ENSMUST00000106803
AA Change: V784I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102415
Gene: ENSMUSG00000078612
AA Change: V784I

Domain	Start	End	E-Value	Type
low complexity region	120	132	N/A	INTRINSIC
low complexity region	340	349	N/A	INTRINSIC
low complexity region	442	459	N/A	INTRINSIC
low complexity region	537	549	N/A	INTRINSIC
low complexity region	567	578	N/A	INTRINSIC
low complexity region	682	697	N/A	INTRINSIC
SH3	735	791	3.82e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106804
AA Change: V720I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102416
Gene: ENSMUSG00000078612
AA Change: V720I

Domain	Start	End	E-Value	Type
low complexity region	56	68	N/A	INTRINSIC
low complexity region	276	285	N/A	INTRINSIC
low complexity region	378	395	N/A	INTRINSIC
low complexity region	473	485	N/A	INTRINSIC
low complexity region	503	514	N/A	INTRINSIC
low complexity region	618	633	N/A	INTRINSIC
SH3	671	727	3.82e0	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.0%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acbd5	T	G	2: 22,959,608 (GRCm39)	V54G	probably damaging	Het
Acin1	A	T	14: 54,902,908 (GRCm39)	S255T	probably damaging	Het
Adcy2	A	G	13: 69,147,248 (GRCm39)	L56P	probably damaging	Het
Akap6	G	T	12: 53,188,685 (GRCm39)	C2033F	probably damaging	Het
Ano5	A	G	7: 51,237,506 (GRCm39)	I777V	probably benign	Het
Arhgef28	A	G	13: 98,075,987 (GRCm39)	V1349A	probably benign	Het
Atosa	G	A	9: 74,916,733 (GRCm39)	G444E	probably damaging	Het
Bank1	T	C	3: 135,760,164 (GRCm39)		probably null	Het
C2cd5	T	C	6: 142,987,281 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,287,697 (GRCm39)	V1161A	probably damaging	Het
Car8	A	T	4: 8,169,703 (GRCm39)	D268E	probably benign	Het
Ciao3	G	A	17: 26,000,795 (GRCm39)	V406M	probably damaging	Het
Ckap5	T	A	2: 91,385,676 (GRCm39)	S175T	probably damaging	Het
Clk4	T	A	11: 51,166,320 (GRCm39)	Y67*	probably null	Het
Copg2	T	C	6: 30,792,917 (GRCm39)	I473V	possibly damaging	Het
Cstdc1	T	C	2: 148,625,282 (GRCm39)	I72T	probably damaging	Het
Cyp2s1	C	T	7: 25,508,973 (GRCm39)	V43I	probably benign	Het
Ddx54	A	G	5: 120,761,703 (GRCm39)	D493G	probably benign	Het
Efemp2	T	C	19: 5,530,078 (GRCm39)	S140P	probably damaging	Het
Fat1	C	A	8: 45,479,786 (GRCm39)	T2944K	probably damaging	Het
Fgfr1	T	A	8: 26,047,784 (GRCm39)	D43E	probably damaging	Het
Fry	G	A	5: 150,419,825 (GRCm39)	A996T	probably damaging	Het
Gm6507	T	A	6: 89,162,144 (GRCm39)		noncoding transcript	Het
Gm7964	T	C	7: 83,405,374 (GRCm39)		noncoding transcript	Het
Gucy2c	T	C	6: 136,704,799 (GRCm39)		probably null	Het
Hdac10	A	T	15: 89,010,621 (GRCm39)	L259Q	probably damaging	Het
Hoxd9	A	T	2: 74,529,172 (GRCm39)	D258V	probably damaging	Het
Hs3st3b1	T	C	11: 63,812,401 (GRCm39)	T105A	probably benign	Het
Hsd17b7	A	G	1: 169,783,595 (GRCm39)	L271P	probably damaging	Het
Ifnlr1	T	A	4: 135,428,524 (GRCm39)		probably benign	Het
Kif22	A	T	7: 126,633,078 (GRCm39)	M121K	probably damaging	Het
Kl	G	A	5: 150,876,566 (GRCm39)	D129N	probably damaging	Het
Mettl13	A	T	1: 162,361,999 (GRCm39)	I648N	probably damaging	Het
Mlh1	C	T	9: 111,100,540 (GRCm39)	R18H	probably damaging	Het
Mtmr14	T	C	6: 113,247,473 (GRCm39)		probably benign	Het
Myo15a	C	A	11: 60,369,803 (GRCm39)	N854K	possibly damaging	Het
Myo1h	T	C	5: 114,457,741 (GRCm39)	I84T	probably benign	Het
Myo9a	A	T	9: 59,778,383 (GRCm39)	S1380C	probably benign	Het
Myof	A	G	19: 37,969,708 (GRCm39)	V318A	probably damaging	Het
N4bp2l2	A	G	5: 150,585,897 (GRCm39)	S28P	probably damaging	Het
Nbr1	C	T	11: 101,467,145 (GRCm39)	Q570*	probably null	Het
Nhp2	C	T	11: 51,510,750 (GRCm39)	Q36*	probably null	Het
Or1e17	T	G	11: 73,831,096 (GRCm39)	V8G	probably benign	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Poc1b	T	A	10: 98,965,457 (GRCm39)	W129R	probably damaging	Het
Potegl	T	C	2: 23,146,936 (GRCm39)		probably benign	Het
Rapgef2	C	T	3: 78,986,481 (GRCm39)	E1018K	probably benign	Het
Rgs12	T	C	5: 35,181,710 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,833,873 (GRCm39)	V280I	probably benign	Het
Snx2	A	G	18: 53,343,444 (GRCm39)	I281V	probably benign	Het
Spag5	C	A	11: 78,210,410 (GRCm39)		probably benign	Het
Spata31g1	T	A	4: 42,971,691 (GRCm39)	N341K	probably damaging	Het
Stxbp5	A	T	10: 9,644,617 (GRCm39)	I961N	probably damaging	Het
Tet2	T	C	3: 133,173,045 (GRCm39)	E1739G	probably benign	Het
Tmod2	A	G	9: 75,502,337 (GRCm39)	F50S	possibly damaging	Het
Tnfsf13b	T	G	8: 10,057,166 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,616,679 (GRCm39)	K16525E	possibly damaging	Het
Txnrd2	T	C	16: 18,259,629 (GRCm39)		probably benign	Het
Ubr1	A	T	2: 120,711,582 (GRCm39)	Y1437*	probably null	Het
Vwf	C	A	6: 125,543,225 (GRCm39)	D170E	probably benign	Het
Wdr95	C	G	5: 149,497,513 (GRCm39)	I230M	probably damaging	Het
Xirp2	C	T	2: 67,342,559 (GRCm39)	S1600F	probably damaging	Het
Zfp12	A	G	5: 143,230,638 (GRCm39)	K322E	probably damaging	Het

Other mutations in Fyb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00664:Fyb2	APN	4	104,872,913 (GRCm39)	missense	probably damaging	1.00
IGL01155:Fyb2	APN	4	104,856,583 (GRCm39)	missense	probably benign	0.00
IGL01632:Fyb2	APN	4	104,853,008 (GRCm39)	missense	probably benign
IGL01746:Fyb2	APN	4	104,802,404 (GRCm39)	missense	probably benign	0.01
IGL02381:Fyb2	APN	4	104,805,863 (GRCm39)	splice site	probably benign
IGL02590:Fyb2	APN	4	104,836,250 (GRCm39)	missense	probably damaging	1.00
IGL02885:Fyb2	APN	4	104,861,118 (GRCm39)	missense	probably damaging	0.99
IGL03114:Fyb2	APN	4	104,852,975 (GRCm39)	missense	probably damaging	0.97
IGL03189:Fyb2	APN	4	104,872,939 (GRCm39)	missense	probably damaging	1.00
IGL03231:Fyb2	APN	4	104,843,460 (GRCm39)	nonsense	probably null
R0076:Fyb2	UTSW	4	104,802,661 (GRCm39)	missense	possibly damaging	0.46
R0662:Fyb2	UTSW	4	104,852,895 (GRCm39)	missense	possibly damaging	0.46
R1216:Fyb2	UTSW	4	104,852,903 (GRCm39)	missense	possibly damaging	0.86
R1672:Fyb2	UTSW	4	104,808,059 (GRCm39)	missense	probably benign	0.10
R1710:Fyb2	UTSW	4	104,861,113 (GRCm39)	missense	probably damaging	1.00
R1900:Fyb2	UTSW	4	104,802,652 (GRCm39)	missense	probably benign	0.06
R1965:Fyb2	UTSW	4	104,770,846 (GRCm39)	missense	probably benign	0.00
R2106:Fyb2	UTSW	4	104,802,769 (GRCm39)	missense	probably benign	0.01
R5191:Fyb2	UTSW	4	104,852,994 (GRCm39)	missense	possibly damaging	0.88
R5236:Fyb2	UTSW	4	104,805,957 (GRCm39)	missense	probably benign	0.00
R5277:Fyb2	UTSW	4	104,872,876 (GRCm39)	missense	probably damaging	1.00
R5502:Fyb2	UTSW	4	104,802,521 (GRCm39)	missense	probably damaging	1.00
R5769:Fyb2	UTSW	4	104,872,841 (GRCm39)	missense	probably damaging	1.00
R5769:Fyb2	UTSW	4	104,870,518 (GRCm39)	missense	probably damaging	1.00
R6167:Fyb2	UTSW	4	104,802,661 (GRCm39)	missense	possibly damaging	0.46
R6169:Fyb2	UTSW	4	104,857,713 (GRCm39)	missense	probably benign	0.16
R6371:Fyb2	UTSW	4	104,852,975 (GRCm39)	missense	probably damaging	0.97
R6582:Fyb2	UTSW	4	104,802,739 (GRCm39)	missense	probably benign	0.00
R6713:Fyb2	UTSW	4	104,847,432 (GRCm39)	missense	probably benign	0.16
R6719:Fyb2	UTSW	4	104,867,656 (GRCm39)	missense	probably benign	0.07
R7484:Fyb2	UTSW	4	104,870,499 (GRCm39)	missense	probably benign	0.01
R7534:Fyb2	UTSW	4	104,856,545 (GRCm39)	nonsense	probably null
R7590:Fyb2	UTSW	4	104,802,443 (GRCm39)	missense	probably benign	0.01
R7699:Fyb2	UTSW	4	104,867,651 (GRCm39)	missense	probably benign	0.07
R7700:Fyb2	UTSW	4	104,867,651 (GRCm39)	missense	probably benign	0.07
R8041:Fyb2	UTSW	4	104,857,681 (GRCm39)	missense	possibly damaging	0.82
R8298:Fyb2	UTSW	4	104,806,028 (GRCm39)	missense	probably damaging	0.99
R8300:Fyb2	UTSW	4	104,857,689 (GRCm39)	missense	probably damaging	1.00
R8755:Fyb2	UTSW	4	104,861,086 (GRCm39)	missense	unknown
R8817:Fyb2	UTSW	4	104,802,652 (GRCm39)	missense	probably benign	0.06
R8873:Fyb2	UTSW	4	104,856,538 (GRCm39)	missense	probably damaging	1.00
R8914:Fyb2	UTSW	4	104,857,700 (GRCm39)	missense	probably benign	0.09
R9224:Fyb2	UTSW	4	104,853,105 (GRCm39)	missense	probably benign	0.44
R9434:Fyb2	UTSW	4	104,847,534 (GRCm39)	missense	probably damaging	0.99
R9512:Fyb2	UTSW	4	104,853,100 (GRCm39)	missense	probably benign	0.00
R9589:Fyb2	UTSW	4	104,872,833 (GRCm39)	missense	probably damaging	1.00
R9634:Fyb2	UTSW	4	104,856,579 (GRCm39)	nonsense	probably null
R9758:Fyb2	UTSW	4	104,802,961 (GRCm39)	missense	probably benign	0.01
X0018:Fyb2	UTSW	4	104,802,407 (GRCm39)	missense	probably benign	0.04
Z1176:Fyb2	UTSW	4	104,770,857 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGAAGTCATCGACACCACTGAGC -3'
(R):5'- CCCATCTCATCTTGAGGCAGGAAC -3'

Sequencing Primer
(F):5'- GCAAAACCTAGTGATCTGTCG -3'
(R):5'- ACTGTTTACAAATGGGCTCTGC -3'

Posted On

2013-07-30