Mutagenetix > Incidental Mutation

Incidental Mutation 'R0355:Ilf3'

29770

Institutional Source

Beutler Lab

Gene Symbol

Ilf3

Ensembl Gene

ENSMUSG00000032178

Gene Name

interleukin enhancer binding factor 3

Synonyms

NF90

MMRRC Submission

038561-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21279167-21316657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21309266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 474 (V474A)

Ref Sequence

ENSEMBL: ENSMUSP00000150280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067646] [ENSMUST00000115414] [ENSMUST00000213518] [ENSMUST00000213603] [ENSMUST00000214758] [ENSMUST00000216892] [ENSMUST00000217348]

AlphaFold

Q9Z1X4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067646
AA Change: V461A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065770
Gene: ENSMUSG00000032178
AA Change: V461A

Domain	Start	End	E-Value	Type
DZF	88	342	3.87e-166	SMART
low complexity region	375	396	N/A	INTRINSIC
DSRM	402	466	2.2e-16	SMART
low complexity region	490	508	N/A	INTRINSIC
DSRM	525	589	2.73e-21	SMART
low complexity region	638	688	N/A	INTRINSIC
low complexity region	691	725	N/A	INTRINSIC
low complexity region	745	769	N/A	INTRINSIC
low complexity region	777	807	N/A	INTRINSIC
low complexity region	810	886	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115414
AA Change: V461A

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111074
Gene: ENSMUSG00000032178
AA Change: V461A

Domain	Start	End	E-Value	Type
DZF	88	342	3.87e-166	SMART
low complexity region	375	396	N/A	INTRINSIC
DSRM	402	466	2.2e-16	SMART
low complexity region	490	508	N/A	INTRINSIC
DSRM	525	589	2.73e-21	SMART
low complexity region	638	688	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000213518
AA Change: V474A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213603
AA Change: V474A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214217

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214758
AA Change: V474A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000214821

Predicted Effect

unknown
Transcript: ENSMUST00000215169
AA Change: V67A

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216892
AA Change: V474A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215438

Predicted Effect

probably benign
Transcript: ENSMUST00000217498

Predicted Effect

probably benign
Transcript: ENSMUST00000217348

Meta Mutation Damage Score

0.2046

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 90.2%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: The protein encoded by this gene contains two double-stranded RNA binding domains and functions in the post-transcriptional regulation of gene expression. It is a component of an RNA-protein complex that may be involved in mediating the export of messenger RNAs. Alternative splicing results in multiple transcript variants encoding distinct isoforms. These isoforms are grouped into two categories, NFAR-1 or NFAR-2, based on variation at the C-terminus. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are born small and weak, show tachypnea and multi-organ apoptosis, and die neonatally due to neuromuscular respiratory failure. The diaphragm and other skeletal muscles show disorganization and paucity of myofibers,myocyte degeneration and elevated apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,021 (GRCm39)	I52M	possibly damaging	Het
Agbl5	G	T	5: 31,049,335 (GRCm39)		probably null	Het
Akt2	T	C	7: 27,336,334 (GRCm39)		probably benign	Het
Arl6ip5	T	A	6: 97,209,378 (GRCm39)	S138T	probably damaging	Het
Atp9b	A	G	18: 80,952,800 (GRCm39)		probably benign	Het
Ccdc171	A	T	4: 83,553,919 (GRCm39)	N422Y	probably damaging	Het
Ccr5	C	T	9: 123,924,951 (GRCm39)	P185S	possibly damaging	Het
Cep63	G	T	9: 102,500,759 (GRCm39)	Q38K	probably benign	Het
Cgn	T	C	3: 94,682,242 (GRCm39)	S446G	probably benign	Het
Col16a1	T	A	4: 129,952,206 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 15,968,330 (GRCm39)	Q3099L	probably damaging	Het
Dcc	G	A	18: 71,708,279 (GRCm39)	T479I	possibly damaging	Het
Dclre1a	A	G	19: 56,535,067 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,502,992 (GRCm39)	C66*	probably null	Het
Dnah12	T	A	14: 26,427,272 (GRCm39)		probably null	Het
Dnajb9	T	A	12: 44,253,987 (GRCm39)	H140L	probably damaging	Het
Dnase1	G	A	16: 3,857,413 (GRCm39)	V237M	probably damaging	Het
Dscam	C	A	16: 96,456,105 (GRCm39)	E1274D	probably benign	Het
Epb41	T	C	4: 131,727,572 (GRCm39)	H243R	probably damaging	Het
Evc	T	A	5: 37,473,656 (GRCm39)		probably benign	Het
Fcgrt	T	A	7: 44,752,493 (GRCm39)	M1L	unknown	Het
Flii	T	C	11: 60,610,506 (GRCm39)		probably null	Het
Gen1	A	G	12: 11,298,355 (GRCm39)		probably benign	Het
Gm10447	T	C	11: 53,347,257 (GRCm39)		probably benign	Het
Gm57858	A	G	3: 36,101,054 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,055,975 (GRCm39)		noncoding transcript	Het
Gpr137	G	C	19: 6,916,491 (GRCm39)	D253E	probably damaging	Het
Grid2ip	A	T	5: 143,343,652 (GRCm39)	D116V	probably benign	Het
Grin2c	A	G	11: 115,151,554 (GRCm39)		probably benign	Het
Havcr1	A	G	11: 46,647,051 (GRCm39)	T162A	possibly damaging	Het
Hspa1l	A	T	17: 35,196,386 (GRCm39)	T142S	probably benign	Het
Ift140	T	A	17: 25,267,409 (GRCm39)	Y602*	probably null	Het
Il18	T	A	9: 50,490,575 (GRCm39)		probably benign	Het
Inppl1	T	C	7: 101,476,664 (GRCm39)	Y771C	probably damaging	Het
Ints2	T	C	11: 86,125,575 (GRCm39)	T542A	probably benign	Het
Ipo7	T	C	7: 109,648,868 (GRCm39)	Y714H	probably benign	Het
Itgbl1	T	A	14: 124,077,997 (GRCm39)	C162*	probably null	Het
Kcp	T	C	6: 29,496,926 (GRCm39)	H561R	possibly damaging	Het
Krt23	G	T	11: 99,376,613 (GRCm39)	T181N	probably benign	Het
Lrrc40	A	T	3: 157,746,108 (GRCm39)	D61V	probably damaging	Het
Lypd4	T	A	7: 24,564,691 (GRCm39)	H149L	probably benign	Het
Map3k4	A	G	17: 12,473,058 (GRCm39)	F953L	probably damaging	Het
Mctp1	C	T	13: 76,972,982 (GRCm39)	P405S	probably damaging	Het
Mfsd2a	G	A	4: 122,845,632 (GRCm39)	T173I	possibly damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nipsnap1	G	A	11: 4,839,957 (GRCm39)	G226E	probably damaging	Het
Nudt15	T	C	14: 73,760,824 (GRCm39)	Y89C	probably damaging	Het
Or10g7	T	A	9: 39,905,459 (GRCm39)	S118T	possibly damaging	Het
Or10h28	T	A	17: 33,488,109 (GRCm39)	M137K	probably damaging	Het
Or13p3	T	A	4: 118,566,808 (GRCm39)	M68K	probably benign	Het
Or7a37	T	G	10: 78,806,267 (GRCm39)	S261R	probably damaging	Het
Phf24	A	C	4: 42,933,891 (GRCm39)	E91A	probably damaging	Het
Plbd1	T	A	6: 136,618,165 (GRCm39)	N17I	possibly damaging	Het
Por	C	T	5: 135,761,438 (GRCm39)	S308L	probably benign	Het
Prmt8	T	A	6: 127,688,837 (GRCm39)	K178*	probably null	Het
Rev3l	A	G	10: 39,693,282 (GRCm39)	N454S	probably damaging	Het
Rps6ka2	T	C	17: 7,539,009 (GRCm39)	V309A	probably benign	Het
Slc15a5	A	G	6: 137,995,112 (GRCm39)		probably benign	Het
Slc30a6	G	A	17: 74,730,198 (GRCm39)	V363I	probably benign	Het
Snf8	G	A	11: 95,930,125 (GRCm39)	M42I	probably benign	Het
Stom	T	C	2: 35,215,371 (GRCm39)	I65V	probably benign	Het
Tacr3	C	T	3: 134,637,989 (GRCm39)	T382I	probably benign	Het
Tenm3	A	G	8: 48,682,010 (GRCm39)	V2540A	probably damaging	Het
Trabd	A	G	15: 88,969,816 (GRCm39)	T314A	possibly damaging	Het
Tyk2	T	C	9: 21,025,486 (GRCm39)		probably null	Het
Ube4a	T	C	9: 44,856,099 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,589,015 (GRCm39)	H1060R	possibly damaging	Het
Virma	A	T	4: 11,528,626 (GRCm39)	K1288*	probably null	Het
Vmn2r100	A	C	17: 19,751,582 (GRCm39)	I542L	probably benign	Het
Vwde	T	C	6: 13,187,806 (GRCm39)		probably benign	Het
Zfc3h1	T	C	10: 115,245,018 (GRCm39)	I797T	possibly damaging	Het
Zfp74	C	T	7: 29,653,466 (GRCm39)		probably benign	Het
Zkscan7	T	A	9: 122,717,872 (GRCm39)	L89Q	probably damaging	Het

Other mutations in Ilf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Ilf3	APN	9	21,307,347 (GRCm39)	missense	probably damaging	1.00
IGL01013:Ilf3	APN	9	21,310,987 (GRCm39)	missense	possibly damaging	0.91
IGL01352:Ilf3	APN	9	21,303,618 (GRCm39)	missense	possibly damaging	0.89
IGL01975:Ilf3	APN	9	21,303,675 (GRCm39)	missense	probably benign	0.03
IGL02826:Ilf3	APN	9	21,309,340 (GRCm39)	missense	probably benign	0.20
IGL03238:Ilf3	APN	9	21,303,646 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Ilf3	UTSW	9	21,314,662 (GRCm39)	missense	unknown
R0047:Ilf3	UTSW	9	21,300,010 (GRCm39)	missense	possibly damaging	0.76
R0047:Ilf3	UTSW	9	21,300,010 (GRCm39)	missense	possibly damaging	0.76
R0090:Ilf3	UTSW	9	21,306,710 (GRCm39)	missense	probably damaging	1.00
R1768:Ilf3	UTSW	9	21,314,438 (GRCm39)	unclassified	probably benign
R1889:Ilf3	UTSW	9	21,316,063 (GRCm39)	unclassified	probably benign
R1895:Ilf3	UTSW	9	21,316,063 (GRCm39)	unclassified	probably benign
R1918:Ilf3	UTSW	9	21,305,010 (GRCm39)	missense	probably damaging	1.00
R2930:Ilf3	UTSW	9	21,310,886 (GRCm39)	missense	possibly damaging	0.91
R3912:Ilf3	UTSW	9	21,309,422 (GRCm39)	missense	possibly damaging	0.77
R3913:Ilf3	UTSW	9	21,309,422 (GRCm39)	missense	possibly damaging	0.77
R4080:Ilf3	UTSW	9	21,314,430 (GRCm39)	critical splice acceptor site	probably null
R4412:Ilf3	UTSW	9	21,310,856 (GRCm39)	missense	possibly damaging	0.77
R4510:Ilf3	UTSW	9	21,310,511 (GRCm39)	missense	possibly damaging	0.95
R4511:Ilf3	UTSW	9	21,310,511 (GRCm39)	missense	possibly damaging	0.95
R5201:Ilf3	UTSW	9	21,300,679 (GRCm39)	missense	probably damaging	1.00
R5785:Ilf3	UTSW	9	21,306,168 (GRCm39)	missense	probably damaging	1.00
R6303:Ilf3	UTSW	9	21,314,432 (GRCm39)	unclassified	probably benign
R6406:Ilf3	UTSW	9	21,307,540 (GRCm39)	missense	probably damaging	0.99
R6434:Ilf3	UTSW	9	21,314,447 (GRCm39)	unclassified	probably benign
R7169:Ilf3	UTSW	9	21,306,722 (GRCm39)	missense	probably damaging	0.96
R7410:Ilf3	UTSW	9	21,311,100 (GRCm39)	missense	unknown
R7468:Ilf3	UTSW	9	21,314,707 (GRCm39)	missense	unknown
R7624:Ilf3	UTSW	9	21,309,340 (GRCm39)	missense	probably benign	0.20
R7720:Ilf3	UTSW	9	21,310,833 (GRCm39)	missense	possibly damaging	0.51
R8513:Ilf3	UTSW	9	21,299,932 (GRCm39)	missense	possibly damaging	0.92
R9056:Ilf3	UTSW	9	21,314,434 (GRCm39)	nonsense	probably null
R9317:Ilf3	UTSW	9	21,307,422 (GRCm39)	missense	probably damaging	1.00
R9522:Ilf3	UTSW	9	21,305,533 (GRCm39)	missense	probably benign	0.02
X0066:Ilf3	UTSW	9	21,303,702 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGTACACTTCCCACTTTGGCCTC -3'
(R):5'- TGGACAAGCCTGACTCTGTTTTGC -3'

Sequencing Primer
(F):5'- TGGATCATTTGACAAGCTACATC -3'
(R):5'- TGCATTTAAGGACTAGTGACCCC -3'

Posted On

2013-04-24