Mutagenetix > Incidental Mutation

Incidental Mutation 'R9280:Ilf2'

703546

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 #

R9280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90383433-90395686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90394922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 390 (E390G)

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

unknown
Transcript: ENSMUST00000001042
AA Change: E390G

SMART Domains

Protein: ENSMUSP00000001042
Gene: ENSMUSG00000001016
AA Change: E390G

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

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	G	T	6: 125,039,938 (GRCm39)	V514L	probably damaging	Het
Actl11	A	G	9: 107,808,573 (GRCm39)	I965M	probably damaging	Het
Ank3	A	T	10: 69,818,021 (GRCm39)	S1468C	possibly damaging	Het
Aoc1l1	A	G	6: 48,955,116 (GRCm39)	D652G	possibly damaging	Het
Apobec3	A	C	15: 79,791,082 (GRCm39)	N392T		Het
Ccdc33	A	T	9: 57,965,549 (GRCm39)	M591K	probably benign	Het
Ccdc39	T	C	3: 33,870,153 (GRCm39)	E689G	probably damaging	Het
Cnot1	A	T	8: 96,497,227 (GRCm39)	M250K	probably benign	Het
Crppa	T	A	12: 36,571,975 (GRCm39)	S344R	probably benign	Het
Ctbs	A	T	3: 146,160,142 (GRCm39)	Y57F	probably damaging	Het
Dchs2	A	G	3: 83,189,255 (GRCm39)	I1540V	possibly damaging	Het
Dnah8	A	T	17: 31,004,071 (GRCm39)	Q3651H	possibly damaging	Het
Eif2a	A	G	3: 58,447,009 (GRCm39)		probably benign	Het
Entpd2	A	G	2: 25,289,511 (GRCm39)	N331S	possibly damaging	Het
F830045P16Rik	G	A	2: 129,314,774 (GRCm39)	P168S	probably damaging	Het
Fam76b	A	T	9: 13,751,012 (GRCm39)	H302L	possibly damaging	Het
Fancm	A	G	12: 65,153,612 (GRCm39)	E1356G	probably benign	Het
Fat2	G	A	11: 55,201,523 (GRCm39)	T517I	probably benign	Het
Glul	T	C	1: 153,783,611 (GRCm39)	C269R	probably benign	Het
Gm3404	C	T	5: 146,462,756 (GRCm39)	H40Y	possibly damaging	Het
Grb7	T	C	11: 98,345,248 (GRCm39)	F435S	probably damaging	Het
Ide	A	T	19: 37,295,490 (GRCm39)	Y191N		Het
Ide	T	C	19: 37,307,801 (GRCm39)		probably benign	Het
Ighv6-3	T	A	12: 114,355,420 (GRCm39)	T90S	probably damaging	Het
Il23r	A	G	6: 67,429,410 (GRCm39)	C311R	probably damaging	Het
Ints1	C	T	5: 139,750,469 (GRCm39)	C896Y	probably damaging	Het
Ipcef1	T	C	10: 6,850,736 (GRCm39)	E289G	probably benign	Het
Kbtbd2	G	A	6: 56,755,997 (GRCm39)	R580W	probably damaging	Het
Kif21b	T	C	1: 136,099,445 (GRCm39)		probably null	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mmp27	A	T	9: 7,579,812 (GRCm39)	I429L	probably benign	Het
Mmp8	A	G	9: 7,567,292 (GRCm39)	D431G	possibly damaging	Het
Mpeg1	A	G	19: 12,439,828 (GRCm39)	T429A	probably benign	Het
Mterf1a	A	T	5: 3,941,539 (GRCm39)	Y110N	probably damaging	Het
Myh4	G	A	11: 67,146,135 (GRCm39)	A1398T	probably damaging	Het
Nr3c2	T	A	8: 77,635,973 (GRCm39)	M358K	probably benign	Het
Nup50l	A	C	6: 96,141,982 (GRCm39)	L354R	probably damaging	Het
Or5d14	A	T	2: 87,880,458 (GRCm39)	F170Y	probably damaging	Het
Or5g25	G	A	2: 85,478,504 (GRCm39)	R54*	probably null	Het
Or7e173	A	C	9: 19,938,639 (GRCm39)	S198R	probably benign	Het
Otof	A	G	5: 30,528,894 (GRCm39)	F1838S	probably damaging	Het
Pappa2	G	A	1: 158,675,533 (GRCm39)	T1071I	possibly damaging	Het
Pcdhb15	A	G	18: 37,607,794 (GRCm39)	D342G	probably damaging	Het
Pcdhgb7	T	C	18: 37,886,585 (GRCm39)	L585P	probably damaging	Het
Pde1c	A	T	6: 56,114,505 (GRCm39)	S469R	probably benign	Het
Pla2g6	A	G	15: 79,197,314 (GRCm39)	F87L	probably benign	Het
Rag2	A	T	2: 101,460,145 (GRCm39)	M152L	probably benign	Het
Rasa1	C	T	13: 85,436,732 (GRCm39)	A99T	unknown	Het
Rasgrp1	T	C	2: 117,113,132 (GRCm39)	N760S	probably benign	Het
Rgsl1	A	T	1: 153,669,898 (GRCm39)	M232K	probably benign	Het
Ryr1	G	A	7: 28,802,389 (GRCm39)	H744Y	probably damaging	Het
Slc1a4	A	G	11: 20,282,325 (GRCm39)	S50P	probably damaging	Het
Slc25a36	A	C	9: 96,982,233 (GRCm39)	L34R	probably damaging	Het
Slc39a12	A	T	2: 14,401,003 (GRCm39)	I127F	probably benign	Het
Slco1a8	A	G	6: 141,939,978 (GRCm39)	L175P	possibly damaging	Het
Sntb1	T	C	15: 55,769,771 (GRCm39)	T73A	probably benign	Het
Tbc1d14	T	C	5: 36,680,268 (GRCm39)		probably benign	Het
Tll2	T	A	19: 41,077,309 (GRCm39)	E819V	possibly damaging	Het
Trappc13	C	T	13: 104,290,809 (GRCm39)	A181T	probably benign	Het
Trbj1-1	A	G	6: 41,510,830 (GRCm39)	R11G		Het
Ubash3b	A	C	9: 41,072,877 (GRCm39)	I12S	unknown	Het
Usp37	T	C	1: 74,489,699 (GRCm39)	K828E	probably damaging	Het
Usp8	G	C	2: 126,561,944 (GRCm39)	S46T	unknown	Het
Zfp418	A	G	7: 7,184,408 (GRCm39)	T124A	possibly damaging	Het
Zfp87	T	C	13: 74,520,803 (GRCm39)	T92A	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
R9492:Ilf2	UTSW	3	90,394,570 (GRCm39)	missense	probably benign	0.00
X0011:Ilf2	UTSW	3	90,394,782 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAGAAGCCGTATCTAAAGGTGGTC -3'
(R):5'- AGACTTCTAGCTGCTTGGCC -3'

Sequencing Primer
(F):5'- ACTGGGATATTTGTATGAAGTGGG -3'
(R):5'- GCTTGGCCACTATCGAAACAGTAG -3'

Posted On

2022-03-25