Mutagenetix > Incidental Mutation

Incidental Mutation 'R9492:Ilf2'

716974

Institutional Source

Beutler Lab

Gene Symbol

Ilf2

Ensembl Gene

ENSMUSG00000001016

Gene Name

interleukin enhancer binding factor 2

Synonyms

Tex261, 6230405A16Rik, TEG-267, Tex267

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90383433-90395686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90394570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 320 (I320V)

Ref Sequence

ENSEMBL: ENSMUSP00000001042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001042] [ENSMUST00000149884] [ENSMUST00000184877] [ENSMUST00000185005]

AlphaFold

Q9CXY6

PDB Structure

Crystal structure of the NF90-NF45 dimerisation domain complex [X-RAY DIFFRACTION]
Crystal structure of the NF90-NF45 dimerisation domain complex with ATP [X-RAY DIFFRACTION]
Crystal structure of the NF90-NF45 dimerisation domain complex with UTP [X-RAY DIFFRACTION]
Crystal structure of the NF90-NF45 dimerisation domain complex with CTP [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000001042
AA Change: I320V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000001042
Gene: ENSMUSG00000001016
AA Change: I320V

Domain	Start	End	E-Value	Type
low complexity region	2	26	N/A	INTRINSIC
DZF	98	338	5.01e-142	SMART
low complexity region	353	390	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149884

SMART Domains

Protein: ENSMUSP00000122090
Gene: ENSMUSG00000001018

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
Pfam:Snapin_Pallidin	23	110	5.8e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184877

SMART Domains

Protein: ENSMUSP00000139315
Gene: ENSMUSG00000001018

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185005

SMART Domains

Protein: ENSMUSP00000139160
Gene: ENSMUSG00000001018

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. The encoded 45 kDa protein (NF45, ILF2) forms a complex with the 90 kDa interleukin enhancer-binding factor 3 (NF90, ILF3), and this complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm, to repair DNA breaks by nonhomologous end joining, and to negatively regulate the microRNA processing pathway. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. Alternative splicing results in multiple transcript variants. Related pseudogenes have been found on chromosomes 3 and 14. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	C	1: 120,078,472 (GRCm39)	K43T	probably damaging	Het
Abca12	A	G	1: 71,297,380 (GRCm39)	V2370A	possibly damaging	Het
Abca13	T	A	11: 9,243,667 (GRCm39)	C1843*	probably null	Het
Abr	C	T	11: 76,399,751 (GRCm39)	S82N	probably benign	Het
Acot2	T	C	12: 84,039,384 (GRCm39)	S298P	probably benign	Het
Acrbp	A	G	6: 125,038,062 (GRCm39)	D421G	probably benign	Het
Adam25	A	T	8: 41,206,736 (GRCm39)	M1L	probably benign	Het
Ano8	A	G	8: 71,934,784 (GRCm39)	V441A	possibly damaging	Het
Aoc1l1	T	C	6: 48,955,540 (GRCm39)	S717P	probably benign	Het
Atg2b	T	C	12: 105,624,549 (GRCm39)	H650R	probably benign	Het
Atp11a	C	T	8: 12,894,490 (GRCm39)	T695I	probably damaging	Het
AU018091	A	G	7: 3,214,023 (GRCm39)	S74P	probably benign	Het
Cadps2	A	G	6: 23,427,238 (GRCm39)	Y597H	probably benign	Het
Ccdc15	C	T	9: 37,215,665 (GRCm39)	E619K	probably damaging	Het
Ceacam11	G	T	7: 17,709,468 (GRCm39)	C222F	probably benign	Het
Cmya5	T	C	13: 93,177,822 (GRCm39)	*3677W	probably null	Het
Col11a1	G	C	3: 114,005,752 (GRCm39)	C1628S	probably benign	Het
Dhx8	T	C	11: 101,654,808 (GRCm39)	I1032T	possibly damaging	Het
Dpp10	T	C	1: 123,281,159 (GRCm39)	D630G	probably damaging	Het
Eci3	C	T	13: 35,143,976 (GRCm39)	G50R	probably benign	Het
Eif2a	A	G	3: 58,448,475 (GRCm39)	T103A	probably benign	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gdnf	C	T	15: 7,840,423 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,547,230 (GRCm39)	M471K	probably benign	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Klhl21	T	C	4: 152,093,419 (GRCm39)	L7S	probably benign	Het
Lrrc61	G	T	6: 48,545,761 (GRCm39)	E195*	probably null	Het
Maz	G	T	7: 126,622,292 (GRCm39)	A443E	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mtor	T	A	4: 148,568,801 (GRCm39)	L1107Q	probably damaging	Het
Nectin3	T	C	16: 46,215,511 (GRCm39)	H494R	probably benign	Het
Nlgn1	G	T	3: 25,488,480 (GRCm39)	Y618*	probably null	Het
Nup98	C	T	7: 101,778,252 (GRCm39)	E1372K	probably benign	Het
Or12e9	A	G	2: 87,201,960 (GRCm39)	N28S	probably benign	Het
Or5af1	T	C	11: 58,722,610 (GRCm39)	V210A	probably benign	Het
Otud6b	A	G	4: 14,818,349 (GRCm39)	I184T	probably damaging	Het
Pcsk6	A	G	7: 65,697,346 (GRCm39)	N891S	probably benign	Het
Pde4a	T	A	9: 21,106,096 (GRCm39)	L237Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pou3f1	A	G	4: 124,552,179 (GRCm39)	H227R	possibly damaging	Het
Prss53	G	A	7: 127,488,802 (GRCm39)	R31C	probably damaging	Het
Psmb8	T	A	17: 34,417,435 (GRCm39)	D21E	probably benign	Het
Ptprq	A	G	10: 107,478,813 (GRCm39)	Y1277H	probably damaging	Het
Rexo2	T	C	9: 48,380,176 (GRCm39)	T219A	probably benign	Het
Rfc3	A	G	5: 151,566,411 (GRCm39)	F346S	probably damaging	Het
Rhoq	A	T	17: 87,304,373 (GRCm39)	Q168L		Het
Sgk1	A	G	10: 21,874,096 (GRCm39)	N452S	probably damaging	Het
Slc35f3	A	G	8: 127,048,026 (GRCm39)	K122R	probably damaging	Het
Slc4a2	T	A	5: 24,644,761 (GRCm39)	M1021K	probably benign	Het
Sorcs2	A	G	5: 36,186,484 (GRCm39)	V886A	probably benign	Het
Spata20	T	A	11: 94,374,444 (GRCm39)	M308L	probably damaging	Het
Spen	A	T	4: 141,199,098 (GRCm39)	H3176Q	probably benign	Het
Stat5b	T	A	11: 100,692,361 (GRCm39)	H141L	probably benign	Het
Syne2	T	A	12: 75,995,839 (GRCm39)	H2126Q	possibly damaging	Het
Traj46	A	G	14: 54,409,851 (GRCm39)	T20A		Het
Trim30a	G	T	7: 104,078,330 (GRCm39)	Q249K	probably damaging	Het
Trmt13	A	G	3: 116,388,281 (GRCm39)	Y52H	probably benign	Het
Trpv3	A	G	11: 73,187,267 (GRCm39)	I700V	probably damaging	Het
Tyr	G	A	7: 87,121,704 (GRCm39)	H363Y	probably damaging	Het
Tyr	C	G	7: 87,121,705 (GRCm39)	M362I	possibly damaging	Het
Ubb	G	A	11: 62,442,984 (GRCm39)	V5M	probably damaging	Het
Unc5a	T	C	13: 55,150,288 (GRCm39)	L519P	probably damaging	Het
Uso1	A	G	5: 92,315,191 (GRCm39)	D185G	possibly damaging	Het
Vmn1r228	C	T	17: 20,996,862 (GRCm39)	E219K	probably damaging	Het
Wdr49	A	G	3: 75,240,669 (GRCm39)	V400A	probably damaging	Het
Zfp292	A	G	4: 34,810,794 (GRCm39)	M755T	probably benign	Het

Other mutations in Ilf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01585:Ilf2	APN	3	90,391,849 (GRCm39)	missense	probably damaging	1.00
R0193:Ilf2	UTSW	3	90,388,646 (GRCm39)	splice site	probably null
R0746:Ilf2	UTSW	3	90,390,114 (GRCm39)	missense	probably damaging	1.00
R1888:Ilf2	UTSW	3	90,394,767 (GRCm39)	unclassified	probably benign
R3912:Ilf2	UTSW	3	90,394,367 (GRCm39)	missense	probably benign	0.07
R4441:Ilf2	UTSW	3	90,394,769 (GRCm39)	missense	probably benign	0.18
R7957:Ilf2	UTSW	3	90,394,777 (GRCm39)	nonsense	probably null
R9001:Ilf2	UTSW	3	90,390,108 (GRCm39)	missense	probably benign	0.07
R9280:Ilf2	UTSW	3	90,394,922 (GRCm39)	missense	unknown
X0011:Ilf2	UTSW	3	90,394,782 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAACTTCAGGGTACACACAG -3'
(R):5'- GGGTGTCACAATCACTCCATCC -3'

Sequencing Primer
(F):5'- GCAACTTCAGGGTACACACAGTTATG -3'
(R):5'- ACTCCATCCCAGGTAGATATTTCAG -3'

Posted On

2022-07-18