Mutagenetix > Incidental Mutation

Incidental Mutation 'R7130:Fus'

552580

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

045215-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127565276-127581204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127573585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 253 (G253S)

Ref Sequence

ENSEMBL: ENSMUSP00000101858 (fasta)

Gene Model

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

AlphaFold

P56959

Predicted Effect

unknown
Transcript: ENSMUST00000077609
AA Change: G252S

SMART Domains

Protein: ENSMUSP00000076801
Gene: ENSMUSG00000030795
AA Change: G252S

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

unknown
Transcript: ENSMUST00000106251
AA Change: G253S

SMART Domains

Protein: ENSMUSP00000101858
Gene: ENSMUSG00000030795
AA Change: G253S

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 benign
Transcript: ENSMUST00000121616

SMART Domains

Protein: ENSMUSP00000112721
Gene: ENSMUSG00000030795

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

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (63/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,418,021 (GRCm39)	T735I	possibly damaging	Het
Abtb3	A	C	10: 85,223,419 (GRCm39)	D76A	unknown	Het
Adcy10	T	A	1: 165,331,616 (GRCm39)	V83E	probably damaging	Het
Adcy6	A	G	15: 98,495,110 (GRCm39)	Y701H	probably benign	Het
Apbb1	G	A	7: 105,214,538 (GRCm39)	H518Y	probably damaging	Het
Arhgap20	T	A	9: 51,761,047 (GRCm39)	V966E	probably damaging	Het
Bbx	T	A	16: 50,030,805 (GRCm39)		probably null	Het
Bpifb9b	T	A	2: 154,153,592 (GRCm39)	N219K	probably damaging	Het
Cdk19	A	G	10: 40,355,761 (GRCm39)	T490A	unknown	Het
Cyb5r1	T	G	1: 134,335,759 (GRCm39)		probably benign	Het
Dnah14	C	T	1: 181,573,523 (GRCm39)	Q2945*	probably null	Het
Eif5b	A	G	1: 38,080,857 (GRCm39)	T733A	probably damaging	Het
Esyt3	T	A	9: 99,200,223 (GRCm39)	D657V	probably benign	Het
Fat4	T	A	3: 39,034,936 (GRCm39)	F2863I	probably damaging	Het
Fbxw14	T	A	9: 109,100,350 (GRCm39)	I435L	probably benign	Het
Gdi2	T	C	13: 3,598,891 (GRCm39)	V25A	probably benign	Het
Gm28729	T	G	9: 96,401,457 (GRCm39)	R110S	probably benign	Het
Gucd1	A	G	10: 75,347,951 (GRCm39)	L28P	possibly damaging	Het
Hmgxb3	C	T	18: 61,265,450 (GRCm39)	S1176N	probably benign	Het
Islr2	T	C	9: 58,105,575 (GRCm39)	T606A	probably damaging	Het
Kcnf1	T	C	12: 17,225,810 (GRCm39)	D137G	probably benign	Het
Klkb1	T	A	8: 45,728,575 (GRCm39)	T395S	probably benign	Het
Morc2b	T	A	17: 33,355,262 (GRCm39)	S837C	possibly damaging	Het
Mrpl9	A	G	3: 94,354,597 (GRCm39)	R204G	probably benign	Het
Naaladl1	A	G	19: 6,156,018 (GRCm39)	E64G	probably benign	Het
Nlrx1	T	C	9: 44,173,638 (GRCm39)	E521G	possibly damaging	Het
Npc2	A	G	12: 84,812,081 (GRCm39)	S54P	probably damaging	Het
Nxpe2	T	C	9: 48,250,837 (GRCm39)	M37V	probably benign	Het
Or2ag17	A	G	7: 106,389,389 (GRCm39)	L273P	probably benign	Het
Or2w1	T	G	13: 21,317,416 (GRCm39)	V157G	probably benign	Het
Or4b1b	T	C	2: 90,112,266 (GRCm39)	I218V	probably benign	Het
Or9s27	C	T	1: 92,516,634 (GRCm39)	A194V	probably benign	Het
Osbpl9	G	A	4: 108,940,296 (GRCm39)	R213C	probably benign	Het
Pard3	C	A	8: 128,142,164 (GRCm39)	R907S	probably damaging	Het
Pcdhb11	A	G	18: 37,556,559 (GRCm39)	S630G	probably benign	Het
Pcdhb17	G	A	18: 37,618,498 (GRCm39)	C96Y	probably damaging	Het
Pclo	C	T	5: 14,729,356 (GRCm39)	T2738I	unknown	Het
Pcnx2	G	A	8: 126,480,323 (GRCm39)	R1995*	probably null	Het
Ppm1a	T	A	12: 72,831,007 (GRCm39)	N177K	probably benign	Het
Rfx6	A	T	10: 51,554,476 (GRCm39)	K106*	probably null	Het
Rhoh	T	C	5: 66,050,207 (GRCm39)	V159A	probably damaging	Het
Rreb1	T	C	13: 38,083,724 (GRCm39)	V129A	probably damaging	Het
Sdccag8	C	A	1: 176,702,167 (GRCm39)	A424D	probably damaging	Het
Sdf2	T	C	11: 78,136,823 (GRCm39)	M1T	probably null	Het
Sftpb	T	A	6: 72,282,808 (GRCm39)	F94I	possibly damaging	Het
Slc38a2	G	T	15: 96,589,263 (GRCm39)	H410Q	probably damaging	Het
Slc40a1	A	T	1: 45,960,384 (GRCm39)	V68E	probably damaging	Het
Spopfm3	T	C	3: 94,105,834 (GRCm39)	W51R	probably damaging	Het
Srd5a3	T	C	5: 76,297,684 (GRCm39)	V162A	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tango6	A	G	8: 107,533,733 (GRCm39)	D953G	probably damaging	Het
Tdrd7	T	C	4: 46,029,693 (GRCm39)	S1009P	probably damaging	Het
Thap3	T	C	4: 152,073,373 (GRCm39)	Y14C	possibly damaging	Het
Tmem143	T	A	7: 45,558,901 (GRCm39)	M281K	possibly damaging	Het
Trio	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	15: 27,742,399 (GRCm39)		probably benign	Het
Tsga10	A	G	1: 37,822,965 (GRCm39)	I516T	probably damaging	Het
Ttn	T	C	2: 76,721,013 (GRCm39)	I6804V	unknown	Het
Ubtfl1	C	A	9: 18,321,143 (GRCm39)	P224T	probably damaging	Het
Umad1	G	T	6: 8,427,185 (GRCm39)	C120F	probably null	Het
Unc93a2	T	C	17: 7,637,824 (GRCm39)	T304A	probably benign	Het
Vinac1	A	T	2: 128,881,101 (GRCm39)	V275D		Het
Vmn2r79	T	C	7: 86,651,474 (GRCm39)	V291A	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GTGTGATAAGCTCAAAGGTCAGAC -3'
(R):5'- AGTTAGCACACATCTGGCAGC -3'

Sequencing Primer
(F):5'- TCAAAGGTCAGACAAGGGTGGTC -3'
(R):5'- CACACATCTGGCAGCAGGAG -3'

Posted On

2019-05-15