Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02505:Fus'

296287

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fus

Ensembl Gene

ENSMUSG00000030795

Gene Name

fused in sarcoma

Synonyms

D930039C12Rik, translocated in liposarcoma, pigpen, hnRNP P2, Tls, D430004D17Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

127565276-127581204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127580679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 252 (R252Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077609] [ENSMUST00000079045] [ENSMUST00000106251] [ENSMUST00000121616]

AlphaFold

P56959

Predicted Effect

unknown
Transcript: ENSMUST00000077609
AA Change: R489Q

SMART Domains

Protein: ENSMUSP00000076801
Gene: ENSMUSG00000030795
AA Change: R489Q

Domain	Start	End	E-Value	Type
low complexity region	20	44	N/A	INTRINSIC
low complexity region	48	67	N/A	INTRINSIC
low complexity region	72	104	N/A	INTRINSIC
low complexity region	110	179	N/A	INTRINSIC
low complexity region	185	253	N/A	INTRINSIC
RRM	278	359	3.85e-16	SMART
ZnF_RBZ	416	442	9e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000079045

SMART Domains

Protein: ENSMUSP00000078054
Gene: ENSMUSG00000030795

Domain	Start	End	E-Value	Type
transmembrane domain	89	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106251
AA Change: R490Q

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101858
Gene: ENSMUSG00000030795
AA Change: R490Q

Domain	Start	End	E-Value	Type
low complexity region	20	44	N/A	INTRINSIC
low complexity region	47	63	N/A	INTRINSIC
low complexity region	73	105	N/A	INTRINSIC
low complexity region	111	180	N/A	INTRINSIC
low complexity region	186	254	N/A	INTRINSIC
RRM	279	360	3.85e-16	SMART
ZnF_RBZ	417	443	9e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121616
AA Change: R252Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112721
Gene: ENSMUSG00000030795
AA Change: R252Q

Domain	Start	End	E-Value	Type
low complexity region	20	44	N/A	INTRINSIC
low complexity region	47	63	N/A	INTRINSIC
low complexity region	73	105	N/A	INTRINSIC
low complexity region	111	176	N/A	INTRINSIC
ZnF_RBZ	179	205	9e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136289

Predicted Effect

unknown
Transcript: ENSMUST00000141997
AA Change: R87Q

SMART Domains

Protein: ENSMUSP00000134447
Gene: ENSMUSG00000030795
AA Change: R87Q

Domain	Start	End	E-Value	Type
ZnF_RBZ	15	41	9e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181457

Predicted Effect

probably benign
Transcript: ENSMUST00000174632

SMART Domains

Protein: ENSMUSP00000133820
Gene: ENSMUSG00000030795

Domain	Start	End	E-Value	Type
Pfam:RRM_1	6	56	6.6e-9	PFAM
ZnF_RBZ	77	103	9e-4	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired lymphocyte development, chromosomal instability, increased cellular radiation sensitivity, high neonatal mortality, and male sterility associated with lack of chromosomal pairing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,524,096 (GRCm39)	L68M	probably damaging	Het
Abca13	T	G	11: 9,531,498 (GRCm39)	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,076,105 (GRCm39)	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,395,166 (GRCm39)	A252E	probably damaging	Het
Ap1b1	C	T	11: 4,981,700 (GRCm39)	A536V	probably benign	Het
Arhgef3	A	G	14: 27,115,957 (GRCm39)	H233R	possibly damaging	Het
Arhgef40	A	T	14: 52,238,320 (GRCm39)	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,062,642 (GRCm39)	V622M	probably damaging	Het
Aup1	A	G	6: 83,032,258 (GRCm39)	T142A	probably benign	Het
Bcl6	A	T	16: 23,796,319 (GRCm39)	I36N	probably damaging	Het
Best1	A	G	19: 9,966,514 (GRCm39)	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759 (GRCm38)	Q1150P	probably damaging	Het
Capn5	T	A	7: 97,780,403 (GRCm39)	E322D	possibly damaging	Het
Cd300ld2	A	T	11: 114,904,513 (GRCm39)	M118K	probably benign	Het
Cdh9	T	C	15: 16,856,075 (GRCm39)	L705P	probably damaging	Het
Cep170b	T	G	12: 112,709,504 (GRCm39)	N436K	probably damaging	Het
Chil6	T	A	3: 106,313,278 (GRCm39)	I24F	probably benign	Het
Chmp2a	T	A	7: 12,767,782 (GRCm39)	K48*	probably null	Het
Col19a1	C	T	1: 24,339,665 (GRCm39)		probably benign	Het
Cops7b	C	A	1: 86,520,043 (GRCm39)	Q65K	probably benign	Het
Cyp2e1	T	A	7: 140,349,069 (GRCm39)	L133H	probably damaging	Het
Dkc1	T	C	X: 74,152,339 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,900,767 (GRCm39)	Y134H	probably damaging	Het
F8	C	A	X: 74,423,204 (GRCm39)		probably benign	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gm15821	T	C	17: 34,433,259 (GRCm39)		probably benign	Het
Gm5117	C	A	8: 32,228,344 (GRCm39)		noncoding transcript	Het
H2-Q6	A	G	17: 35,644,152 (GRCm39)	I45V	probably benign	Het
Hectd1	A	G	12: 51,847,496 (GRCm39)		probably null	Het
Ifi204	T	C	1: 173,583,220 (GRCm39)	K333E	probably benign	Het
Ildr1	G	A	16: 36,536,526 (GRCm39)	G185D	probably damaging	Het
Itgb2	G	A	10: 77,383,052 (GRCm39)	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,214,331 (GRCm39)	D226Y	probably damaging	Het
Krt77	A	G	15: 101,769,381 (GRCm39)	L460P	probably damaging	Het
Lamp3	A	G	16: 19,474,207 (GRCm39)	I389T	possibly damaging	Het
Macroh2a1	A	G	13: 56,222,143 (GRCm39)	V336A	probably damaging	Het
Mars1	C	A	10: 127,140,113 (GRCm39)	E414*	probably null	Het
Mpg	T	C	11: 32,180,042 (GRCm39)	V190A	probably damaging	Het
Myh15	A	G	16: 48,937,626 (GRCm39)	I742M	possibly damaging	Het
Nell2	A	T	15: 95,194,144 (GRCm39)		probably benign	Het
Nmur1	T	C	1: 86,314,057 (GRCm39)	D370G	probably benign	Het
Npsr1	A	G	9: 24,009,578 (GRCm39)	E28G	probably benign	Het
Or52r1	T	C	7: 102,536,814 (GRCm39)	E182G	probably damaging	Het
Or56a3	A	T	7: 104,735,540 (GRCm39)	I206L	probably benign	Het
Or7a42	G	T	10: 78,791,767 (GRCm39)	V243F	probably benign	Het
Or8b12c	G	A	9: 37,715,627 (GRCm39)	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,128,899 (GRCm39)	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 110,359,848 (GRCm39)	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,907,139 (GRCm39)	K685N	probably damaging	Het
Prim1	T	A	10: 127,865,652 (GRCm39)	*419R	probably null	Het
Ptk2b	G	T	14: 66,391,692 (GRCm39)	N905K	probably damaging	Het
Rbm34	T	C	8: 127,676,071 (GRCm39)	I395V	probably benign	Het
Rfx1	A	G	8: 84,822,438 (GRCm39)	E912G	possibly damaging	Het
Rngtt	T	C	4: 33,337,936 (GRCm39)	V253A	possibly damaging	Het
Slc2a9	A	G	5: 38,594,002 (GRCm39)	Y169H	possibly damaging	Het
Slc49a4	G	T	16: 35,555,928 (GRCm39)	D177E	probably benign	Het
Susd4	C	A	1: 182,719,645 (GRCm39)	T420K	probably benign	Het
Tdrd3	G	A	14: 87,749,118 (GRCm39)	G676D	probably damaging	Het
Tec	T	C	5: 72,946,587 (GRCm39)	K47E	probably damaging	Het
Tenm2	C	A	11: 35,942,743 (GRCm39)	G1308*	probably null	Het
Tmprss15	A	T	16: 78,784,629 (GRCm39)	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,096,346 (GRCm39)	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,710,378 (GRCm39)	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,261,449 (GRCm39)	T296K	probably damaging	Het
Wdr3	C	T	3: 100,059,290 (GRCm39)	S343N	probably benign	Het
Yju2	G	T	17: 56,269,051 (GRCm39)	G53V	probably damaging	Het
Zfp143	A	T	7: 109,690,993 (GRCm39)	M515L	possibly damaging	Het
Zfp735	A	G	11: 73,580,626 (GRCm39)	I42V	probably benign	Het
Zswim5	A	T	4: 116,819,749 (GRCm39)	M385L	probably benign	Het

Other mutations in Fus

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02622:Fus	APN	7	127,584,794 (GRCm39)	missense	probably damaging	0.99
IGL02951:Fus	APN	7	127,581,009 (GRCm39)	unclassified	probably benign
IGL03029:Fus	APN	7	127,584,712 (GRCm39)	unclassified	probably benign
R0588:Fus	UTSW	7	127,584,746 (GRCm39)	missense	probably damaging	0.99
R0674:Fus	UTSW	7	127,571,948 (GRCm39)	unclassified	probably benign
R0686:Fus	UTSW	7	127,571,935 (GRCm39)	unclassified	probably benign
R0746:Fus	UTSW	7	127,584,596 (GRCm39)	unclassified	probably benign
R1562:Fus	UTSW	7	127,579,094 (GRCm39)	missense	probably damaging	1.00
R1733:Fus	UTSW	7	127,580,717 (GRCm39)	missense	probably benign	0.01
R2186:Fus	UTSW	7	127,584,706 (GRCm39)	unclassified	probably benign
R2200:Fus	UTSW	7	127,576,400 (GRCm39)	missense	probably damaging	0.99
R4537:Fus	UTSW	7	127,575,087 (GRCm39)	missense	probably damaging	0.99
R4981:Fus	UTSW	7	127,566,727 (GRCm39)	start gained	probably benign
R5206:Fus	UTSW	7	127,568,969 (GRCm39)	missense	unknown
R5283:Fus	UTSW	7	127,584,719 (GRCm39)	unclassified	probably benign
R5614:Fus	UTSW	7	127,573,543 (GRCm39)	unclassified	probably benign
R6182:Fus	UTSW	7	127,576,465 (GRCm39)	missense	probably damaging	0.97
R6239:Fus	UTSW	7	127,580,606 (GRCm39)	missense	possibly damaging	0.91
R6939:Fus	UTSW	7	127,571,741 (GRCm39)	unclassified	probably benign
R7130:Fus	UTSW	7	127,573,585 (GRCm39)	missense	unknown
R7340:Fus	UTSW	7	127,581,123 (GRCm39)	splice site	probably null
R8293:Fus	UTSW	7	127,571,749 (GRCm39)	missense	unknown
R8440:Fus	UTSW	7	127,568,998 (GRCm39)	missense	unknown
R9154:Fus	UTSW	7	127,580,440 (GRCm39)	missense	unknown
X0061:Fus	UTSW	7	127,584,605 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16