Mutagenetix > Incidental Mutation

Incidental Mutation 'R7468:Ilf3'

578957

Institutional Source

Beutler Lab

Gene Symbol

Ilf3

Ensembl Gene

ENSMUSG00000032178

Gene Name

interleukin enhancer binding factor 3

Synonyms

NF90

MMRRC Submission

045542-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21279167-21316657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 21314707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 780 (H780N)

Ref Sequence

ENSEMBL: ENSMUSP00000065770 (fasta)

Gene Model

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

AlphaFold

Q9Z1X4

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: ENSMUST00000067646
AA Change: H780N

SMART Domains

Protein: ENSMUSP00000065770
Gene: ENSMUSG00000032178
AA Change: H780N

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

SMART Domains

Protein: ENSMUSP00000111074
Gene: ENSMUSG00000032178

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

unknown
Transcript: ENSMUST00000213518
AA Change: H793N

Predicted Effect

unknown
Transcript: ENSMUST00000213603
AA Change: H793N

Predicted Effect

unknown
Transcript: ENSMUST00000214758
AA Change: H793N

Predicted Effect

probably benign
Transcript: ENSMUST00000215169

Predicted Effect

probably benign
Transcript: ENSMUST00000216892

Predicted Effect

probably benign
Transcript: ENSMUST00000217348

Meta Mutation Damage Score

0.0628

Coding Region Coverage

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

Validation Efficiency

98% (86/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	G	1: 156,450,104 (GRCm39)	N90K	possibly damaging	Het
Acox1	T	C	11: 116,069,001 (GRCm39)	T415A	possibly damaging	Het
Acy1	T	C	9: 106,314,921 (GRCm39)	M1V	probably null	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Alpk3	C	A	7: 80,750,746 (GRCm39)	Y1505*	probably null	Het
Ankrd17	T	C	5: 90,390,902 (GRCm39)	N2256S	probably benign	Het
Ankrd22	C	A	19: 34,126,692 (GRCm39)	C46F	possibly damaging	Het
Arhgef5	A	T	6: 43,257,605 (GRCm39)	K1291*	probably null	Het
Arl9	T	A	5: 77,158,276 (GRCm39)	Y119*	probably null	Het
Asb14	T	C	14: 26,622,805 (GRCm39)	V89A	probably benign	Het
Banp	T	G	8: 122,676,588 (GRCm39)		probably null	Het
Btn2a2	T	C	13: 23,666,933 (GRCm39)	N224S	probably benign	Het
C1ra	C	T	6: 124,499,403 (GRCm39)	Q530*	probably null	Het
C2cd6	A	C	1: 59,107,844 (GRCm39)	S273A	probably benign	Het
Cd1d2	A	T	3: 86,895,583 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,306,307 (GRCm39)	D132G	probably damaging	Het
Cfap45	C	A	1: 172,362,877 (GRCm39)	Y289*	probably null	Het
Chrdl2	T	C	7: 99,659,332 (GRCm39)		probably null	Het
Cilk1	A	G	9: 78,065,221 (GRCm39)	K377R	probably benign	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Dcaf11	T	C	14: 55,802,966 (GRCm39)	F292L	possibly damaging	Het
Dgcr8	A	G	16: 18,077,487 (GRCm39)	F641S	probably damaging	Het
Dnm3	G	A	1: 162,149,198 (GRCm39)		probably null	Het
Efcab3	G	T	11: 104,640,526 (GRCm39)	S1088I	probably benign	Het
Eral1	T	C	11: 77,966,219 (GRCm39)	K320E	probably damaging	Het
Eva1a	A	G	6: 82,069,002 (GRCm39)	T110A	possibly damaging	Het
Fbxo42	A	G	4: 140,926,917 (GRCm39)	D399G	possibly damaging	Het
Frs2	T	C	10: 116,910,007 (GRCm39)	T452A	possibly damaging	Het
Git2	T	A	5: 114,871,958 (GRCm39)	D542V	probably damaging	Het
Grk2	T	A	19: 4,356,063 (GRCm39)		probably benign	Het
Gsg1l2	A	G	11: 67,676,110 (GRCm39)	N158S	possibly damaging	Het
Hc	T	C	2: 34,918,063 (GRCm39)	N740S	probably benign	Het
Hectd1	T	C	12: 51,791,588 (GRCm39)		probably null	Het
Hemk1	A	G	9: 107,208,288 (GRCm39)		probably null	Het
Hormad2	G	T	11: 4,362,245 (GRCm39)	Y126*	probably null	Het
Hr	A	G	14: 70,795,652 (GRCm39)	E399G	possibly damaging	Het
Inpp5e	A	T	2: 26,298,161 (GRCm39)	S147T	probably benign	Het
Irag2	C	A	6: 145,119,427 (GRCm39)		probably null	Het
Jmjd6	T	C	11: 116,733,275 (GRCm39)	D134G	probably damaging	Het
Kif23	G	T	9: 61,844,457 (GRCm39)	Y120*	probably null	Het
Klk12	T	A	7: 43,422,780 (GRCm39)	Y236N	probably damaging	Het
Kmt5b	C	A	19: 3,852,799 (GRCm39)	Y186*	probably null	Het
Krtap9-5	A	G	11: 99,840,132 (GRCm39)	T278A	unknown	Het
Lca5	T	A	9: 83,305,509 (GRCm39)	D99V	probably damaging	Het
Leng9	A	G	7: 4,151,800 (GRCm39)	V292A	probably benign	Het
Lime1	A	G	2: 181,025,135 (GRCm39)	R231G	probably benign	Het
Mctp2	T	A	7: 71,861,438 (GRCm39)	E402D	probably damaging	Het
Mrpl28	T	A	17: 26,343,589 (GRCm39)	S116R	probably damaging	Het
Muc15	A	T	2: 110,561,862 (GRCm39)	R99S	probably benign	Het
Myh2	G	A	11: 67,083,368 (GRCm39)	A1444T	probably benign	Het
Mynn	T	A	3: 30,657,825 (GRCm39)	Y48N	probably damaging	Het
Myo1b	A	T	1: 51,836,639 (GRCm39)	V274E	possibly damaging	Het
Nemp1	T	A	10: 127,528,923 (GRCm39)	M209K	possibly damaging	Het
Nlrc4	G	T	17: 74,752,507 (GRCm39)	D625E	probably benign	Het
Or10al6	C	T	17: 38,082,910 (GRCm39)	A122V	probably damaging	Het
Or11a4	T	C	17: 37,536,276 (GRCm39)	F87L	probably benign	Het
Or4p4	T	C	2: 88,482,622 (GRCm39)	L42P	probably damaging	Het
Otog	T	C	7: 45,913,543 (GRCm39)	V792A	probably benign	Het
Paqr8	T	C	1: 21,005,442 (GRCm39)	Y199H	probably damaging	Het
Popdc3	A	G	10: 45,191,117 (GRCm39)	D76G	probably damaging	Het
Ppme1	T	C	7: 99,991,069 (GRCm39)	N210D	probably benign	Het
Prdm15	A	C	16: 97,636,842 (GRCm39)	Y158*	probably null	Het
Prrg2	A	T	7: 44,709,687 (GRCm39)	L70Q	probably benign	Het
Psmg4	C	T	13: 34,361,966 (GRCm39)	R85W	probably damaging	Het
Rab11fip4	A	T	11: 79,580,478 (GRCm39)	T437S	probably benign	Het
Rap2a	T	A	14: 120,716,338 (GRCm39)	M67K	probably damaging	Het
Rnf123	A	T	9: 107,946,208 (GRCm39)	H322Q	probably benign	Het
Rxfp2	A	T	5: 149,990,801 (GRCm39)	T521S	possibly damaging	Het
Scrn2	T	G	11: 96,923,992 (GRCm39)	V292G	possibly damaging	Het
Serpina3n	C	A	12: 104,377,656 (GRCm39)	P303H	probably benign	Het
Spop	C	T	11: 95,376,727 (GRCm39)	T260M	probably damaging	Het
Surf2	G	A	2: 26,809,354 (GRCm39)	G224D	probably benign	Het
Synm	T	G	7: 67,382,971 (GRCm39)	N669T	unknown	Het
Tmprss13	T	C	9: 45,239,721 (GRCm39)	S10P	unknown	Het
Trav9d-1	T	A	14: 53,029,970 (GRCm39)	S25T	probably benign	Het
Trpc3	A	T	3: 36,678,565 (GRCm39)	I840K	probably damaging	Het
Tsbp1	T	A	17: 34,636,539 (GRCm39)		probably null	Het
Tssc4	C	A	7: 142,622,999 (GRCm39)		probably benign	Het
Ttc39d	G	T	17: 80,523,579 (GRCm39)	R79S	possibly damaging	Het
Txlnb	T	A	10: 17,675,082 (GRCm39)	S78R	probably damaging	Het
Vmn1r142	T	A	7: 21,862,784 (GRCm39)	Q226L	possibly damaging	Het
Vmn1r230	T	C	17: 21,067,146 (GRCm39)	S112P	probably damaging	Het
Wrnip1	T	C	13: 33,000,360 (GRCm39)	F456L	possibly damaging	Het
Zc3h8	G	T	2: 128,775,215 (GRCm39)	H148Q	probably benign	Het
Zcchc3	A	G	2: 152,256,615 (GRCm39)	V28A	probably benign	Het
Zdbf2	T	A	1: 63,346,669 (GRCm39)	C1683S	probably benign	Het
Zfp874a	T	C	13: 67,573,723 (GRCm39)		probably null	Het
Zmym4	A	G	4: 126,776,029 (GRCm39)	S1260P	probably benign	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
R0355:Ilf3	UTSW	9	21,309,266 (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
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'- GCTACAGCTCCTACTACCAAGG -3'
(R):5'- AGCCCAAGGTGATGCTTTCAG -3'

Sequencing Primer
(F):5'- TCCTACTACCAAGGAGACAGC -3'
(R):5'- CCCAAGGTGATGCTTTCAGGTTTC -3'

Posted On

2019-10-07