Mutagenetix > Incidental Mutation

Incidental Mutation 'R9154:Fus'

695241

Institutional Source

Beutler Lab

Gene Symbol

Fus

Ensembl Gene

ENSMUSG00000030795

Gene Name

fused in sarcoma

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9154 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127565276-127581204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127580440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 450 (G450E)

Ref Sequence

ENSEMBL: ENSMUSP00000101858 (fasta)

Gene Model

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

AlphaFold

P56959

Predicted Effect

unknown
Transcript: ENSMUST00000077609
AA Change: G449E

SMART Domains

Protein: ENSMUSP00000076801
Gene: ENSMUSG00000030795
AA Change: G449E

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

unknown
Transcript: ENSMUST00000106251
AA Change: G450E

SMART Domains

Protein: ENSMUSP00000101858
Gene: ENSMUSG00000030795
AA Change: G450E

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

probably damaging
Transcript: ENSMUST00000121616
AA Change: G212E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112721
Gene: ENSMUSG00000030795
AA Change: G212E

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

unknown
Transcript: ENSMUST00000141997
AA Change: G47E

SMART Domains

Protein: ENSMUSP00000134447
Gene: ENSMUSG00000030795
AA Change: G47E

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

Predicted Effect

unknown
Transcript: ENSMUST00000174632
AA Change: G109E

SMART Domains

Protein: ENSMUSP00000133820
Gene: ENSMUSG00000030795
AA Change: G109E

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,926,926 (GRCm39)	V862A	probably benign	Het
A2m	A	T	6: 121,645,512 (GRCm39)	K1019M	probably damaging	Het
Acot6	G	T	12: 84,147,789 (GRCm39)	W15L	possibly damaging	Het
Adam32	CCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAG	8: 25,438,769 (GRCm39)		probably benign	Het
Adnp	C	A	2: 168,026,580 (GRCm39)	Q238H	possibly damaging	Het
Akap7	T	C	10: 25,047,053 (GRCm39)	Y281C	probably damaging	Het
Ank1	A	G	8: 23,605,387 (GRCm39)	E1085G	probably damaging	Het
Arhgef38	A	T	3: 132,837,924 (GRCm39)	S669T	unknown	Het
Atp8b2	A	T	3: 89,865,927 (GRCm39)	S50R	possibly damaging	Het
Atp8b5	T	C	4: 43,372,630 (GRCm39)	I1090T	probably benign	Het
Ccdc198	A	T	14: 49,473,367 (GRCm39)	H129Q	probably benign	Het
Chrna4	G	A	2: 180,670,602 (GRCm39)	R385C	probably damaging	Het
Col4a1	T	A	8: 11,267,446 (GRCm39)	I1105F	probably damaging	Het
Crybg2	G	A	4: 133,792,620 (GRCm39)	R85Q	probably benign	Het
Cspg4	T	A	9: 56,798,287 (GRCm39)	L1434Q		Het
Cyp3a13	T	C	5: 137,919,758 (GRCm39)	N6S	probably benign	Het
Dnase2b	A	T	3: 146,299,326 (GRCm39)	Y42*	probably null	Het
F11r	A	G	1: 171,289,376 (GRCm39)	E233G	probably damaging	Het
Fip1l1	T	C	5: 74,747,703 (GRCm39)	I390T	possibly damaging	Het
Fiz1	G	A	7: 5,011,280 (GRCm39)	R413C	probably damaging	Het
Gm11569	C	A	11: 99,689,267 (GRCm39)	C144F	unknown	Het
Gm7298	A	T	6: 121,756,436 (GRCm39)	Y1027F	probably damaging	Het
Grik5	C	A	7: 24,758,403 (GRCm39)	W340L	probably damaging	Het
H1f2	A	G	13: 23,923,373 (GRCm39)	K181R	unknown	Het
Hectd4	G	A	5: 121,391,967 (GRCm39)	R77H		Het
Ift81	C	A	5: 122,689,122 (GRCm39)	V665L	probably benign	Het
Ints2	A	G	11: 86,125,524 (GRCm39)	F559L	probably damaging	Het
Kdm8	G	A	7: 125,054,296 (GRCm39)	V176I	probably benign	Het
Keap1	A	T	9: 21,142,121 (GRCm39)	Y584*	probably null	Het
Klra1	T	C	6: 130,357,607 (GRCm39)	T7A		Het
Lmo7	T	A	14: 102,122,743 (GRCm39)	W311R	probably damaging	Het
Lrp6	A	G	6: 134,518,855 (GRCm39)	V70A	probably damaging	Het
Luc7l3	A	T	11: 94,190,793 (GRCm39)	S174T	unknown	Het
Madd	T	C	2: 90,998,162 (GRCm39)	T653A	probably damaging	Het
Mlph	G	T	1: 90,855,716 (GRCm39)	G41V	probably damaging	Het
Mov10l1	A	G	15: 88,896,118 (GRCm39)	E654G	possibly damaging	Het
Mpp3	T	C	11: 101,911,328 (GRCm39)	I165V		Het
Mrgpra2a	T	G	7: 47,076,394 (GRCm39)	Y288S	probably damaging	Het
Mroh9	T	A	1: 162,890,030 (GRCm39)	M236L		Het
Muc5b	A	C	7: 141,417,974 (GRCm39)	K3640T	probably damaging	Het
Myh13	A	G	11: 67,253,318 (GRCm39)	I1485V	probably benign	Het
Nf2	A	T	11: 4,744,873 (GRCm39)	F285L	probably damaging	Het
Nfx1	T	A	4: 40,990,845 (GRCm39)	C471S	probably damaging	Het
Nsd1	C	T	13: 55,361,253 (GRCm39)	R74W	probably damaging	Het
Nudt16l1	A	T	16: 4,758,281 (GRCm39)	*212C	probably null	Het
Oaf	T	C	9: 43,133,992 (GRCm39)	Y243C	probably damaging	Het
Or51e1	T	C	7: 102,358,541 (GRCm39)	V25A	probably benign	Het
Or6c3	T	C	10: 129,308,690 (GRCm39)	I43T	probably benign	Het
Or7g30	T	A	9: 19,352,531 (GRCm39)	F107L	probably benign	Het
Or7h8	A	G	9: 20,124,173 (GRCm39)	H176R	possibly damaging	Het
Or8b36	T	A	9: 37,937,690 (GRCm39)	L196*	probably null	Het
Parp9	T	C	16: 35,768,543 (GRCm39)	I241T	probably damaging	Het
Phlpp2	G	T	8: 110,666,590 (GRCm39)	A1040S	possibly damaging	Het
Pon2	A	T	6: 5,265,391 (GRCm39)	V332E	possibly damaging	Het
Ptprc	A	G	1: 138,016,302 (GRCm39)	V544A	probably damaging	Het
Rfx6	A	G	10: 51,597,600 (GRCm39)	S446G	probably benign	Het
Rnf103	T	A	6: 71,487,099 (GRCm39)	C577S	probably benign	Het
Ros1	T	G	10: 51,922,301 (GRCm39)	E2278D	possibly damaging	Het
Rpl37	A	G	15: 5,147,109 (GRCm39)	S50G	probably benign	Het
Rrad	C	T	8: 105,355,343 (GRCm39)	V222M	possibly damaging	Het
Ryr1	T	C	7: 28,769,283 (GRCm39)	T2770A	probably benign	Het
Secisbp2l	G	A	2: 125,617,623 (GRCm39)	P18L	probably damaging	Het
Septin2	T	A	1: 93,429,310 (GRCm39)	W260R	probably damaging	Het
Slc35c2	A	G	2: 165,122,797 (GRCm39)	M117T	probably benign	Het
Slc44a5	A	G	3: 153,953,373 (GRCm39)	T252A	probably benign	Het
Speer4f2	T	A	5: 17,581,610 (GRCm39)	L184Q		Het
Sphkap	C	G	1: 83,234,982 (GRCm39)	V1615L	probably damaging	Het
Sult2a3	C	T	7: 13,806,981 (GRCm39)	V234I	probably benign	Het
Tanc1	T	C	2: 59,630,132 (GRCm39)	L704P	probably damaging	Het
Tas2r126	T	C	6: 42,412,174 (GRCm39)	S236P	probably benign	Het
Tnik	A	G	3: 28,704,235 (GRCm39)	I1020V	probably damaging	Het
Tomm5	T	C	4: 45,106,724 (GRCm39)	Q64R	unknown	Het
Ttll13	A	G	7: 79,897,182 (GRCm39)	E16G	probably benign	Het
Vmn1r21	C	A	6: 57,821,348 (GRCm39)	C32F	probably benign	Het
Vmn2r51	T	A	7: 9,839,480 (GRCm39)	D36V	probably damaging	Het
Vmn2r63	C	T	7: 42,576,413 (GRCm39)	D467N	probably damaging	Het
Vwce	A	G	19: 10,625,850 (GRCm39)	N454S	possibly damaging	Het
Wfdc1	A	C	8: 120,406,116 (GRCm39)	D77A		Het
Yme1l1	T	A	2: 23,077,815 (GRCm39)	I419N	probably damaging	Het
Zfp106	G	A	2: 120,364,812 (GRCm39)	Q555*	probably null	Het
Zfp773	A	C	7: 7,138,302 (GRCm39)	M111R	probably damaging	Het
Zmat3	G	A	3: 32,397,767 (GRCm39)	A165V	possibly damaging	Het

Other mutations in Fus

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02505:Fus	APN	7	127,580,679 (GRCm39)	missense	possibly damaging	0.53
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
X0061:Fus	UTSW	7	127,584,605 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTGATCTGTGACTAACCTAAAGTG -3'
(R):5'- GCCACGTCGATCATCTCCATAG -3'

Sequencing Primer
(F):5'- CTGTGACTAACCTAAAGTGTGGAAAG -3'
(R):5'- ACGTCGATCATCTCCATAGTTTCC -3'

Posted On

2022-01-20