Mutagenetix > Incidental Mutation

Incidental Mutation 'R9056:Ilf3'

688694

Institutional Source

Beutler Lab

Gene Symbol

Ilf3

Ensembl Gene

ENSMUSG00000032178

Gene Name

interleukin enhancer binding factor 3

Synonyms

NF90

MMRRC Submission

068882-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9056 (G1)

Quality Score

189.009

Status

Not validated

Chromosome

Chromosomal Location

21279167-21316657 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 21314434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 689 (Q689*)

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

probably null
Transcript: ENSMUST00000067646
AA Change: Q689*

SMART Domains

Protein: ENSMUSP00000065770
Gene: ENSMUSG00000032178
AA Change: Q689*

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

probably null
Transcript: ENSMUST00000213518
AA Change: Q702*

Predicted Effect

probably null
Transcript: ENSMUST00000213603
AA Change: Q702*

Predicted Effect

probably null
Transcript: ENSMUST00000214758
AA Change: Q702*

Predicted Effect

probably benign
Transcript: ENSMUST00000215169

Predicted Effect

probably benign
Transcript: ENSMUST00000216892

Predicted Effect

probably benign
Transcript: ENSMUST00000217348

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,414,921 (GRCm39)	I3996T	probably damaging	Het
Adgra1	A	G	7: 139,432,492 (GRCm39)	N110S	probably damaging	Het
Arhgap31	T	C	16: 38,427,017 (GRCm39)	T612A	probably benign	Het
Atp13a4	C	T	16: 29,290,706 (GRCm39)		probably null	Het
C1rb	T	C	6: 124,553,984 (GRCm39)	S352P	probably damaging	Het
Cc2d2b	T	C	19: 40,784,216 (GRCm39)	I671T	unknown	Het
Cmas	A	G	6: 142,710,105 (GRCm39)	D116G	probably damaging	Het
Col24a1	T	C	3: 145,021,009 (GRCm39)	V460A	probably damaging	Het
Cracdl	G	A	1: 37,663,553 (GRCm39)	R782C	possibly damaging	Het
Cubn	T	G	2: 13,461,466 (GRCm39)	D687A	probably damaging	Het
Cul9	A	C	17: 46,854,696 (GRCm39)	V2G	probably damaging	Het
Elp3	T	C	14: 65,797,582 (GRCm39)	Y382C	probably damaging	Het
Fbxo11	A	T	17: 88,310,249 (GRCm39)	I443K		Het
Fdps	G	A	3: 89,006,639 (GRCm39)	R84W	probably benign	Het
Helz	C	T	11: 107,547,019 (GRCm39)	A1112V	possibly damaging	Het
Herc1	T	A	9: 66,380,782 (GRCm39)	M3553K	probably benign	Het
Hspa12a	T	C	19: 58,813,720 (GRCm39)	Y135C	probably damaging	Het
Hspa1l	A	G	17: 35,196,849 (GRCm39)	Y296C	probably benign	Het
Ifna12	T	G	4: 88,521,079 (GRCm39)	E156A	possibly damaging	Het
Ints1	A	G	5: 139,760,041 (GRCm39)		probably null	Het
Itga8	T	A	2: 12,235,019 (GRCm39)	D413V	possibly damaging	Het
Kcnd3	C	T	3: 105,574,290 (GRCm39)	L492F	possibly damaging	Het
Kcnh5	T	C	12: 74,944,774 (GRCm39)	K825R	probably benign	Het
Kcnma1	A	G	14: 23,700,214 (GRCm39)	I194T	possibly damaging	Het
Kmo	A	G	1: 175,465,108 (GRCm39)	R30G	probably damaging	Het
Krtap19-4	C	A	16: 88,681,801 (GRCm39)	G52C	unknown	Het
Ksr1	A	G	11: 78,918,465 (GRCm39)	V563A	possibly damaging	Het
Lyn	A	T	4: 3,780,925 (GRCm39)	M355L	possibly damaging	Het
Med13	A	T	11: 86,189,660 (GRCm39)	L1083*	probably null	Het
Mfsd13a	A	G	19: 46,354,900 (GRCm39)	T26A	probably benign	Het
Mup14	T	C	4: 61,259,430 (GRCm39)	I41V	probably benign	Het
Myo9b	T	A	8: 71,804,906 (GRCm39)	S1466T	probably benign	Het
Nampt	T	C	12: 32,888,458 (GRCm39)		probably null	Het
Nbeal1	T	C	1: 60,317,885 (GRCm39)	Y1941H	probably damaging	Het
Nyap2	C	T	1: 81,314,314 (GRCm39)	A670V	probably benign	Het
Or10h28	A	G	17: 33,487,794 (GRCm39)	Y32C	probably damaging	Het
Or2aj6	A	G	16: 19,443,791 (GRCm39)	S20P	probably benign	Het
Or4k44	T	C	2: 111,368,488 (GRCm39)	I49V	probably benign	Het
Or4m1	T	C	14: 50,557,999 (GRCm39)	I98V	probably damaging	Het
Or8g31-ps1	T	C	9: 39,276,416 (GRCm39)	V187A	unknown	Het
Pcdh15	A	G	10: 74,221,731 (GRCm39)	D677G	probably damaging	Het
Pogz	T	A	3: 94,787,530 (GRCm39)	S1373T	probably benign	Het
Ptprj	T	C	2: 90,288,613 (GRCm39)	D691G	probably benign	Het
Qpctl	T	A	7: 18,880,961 (GRCm39)	D157V	probably damaging	Het
Rbbp8	T	C	18: 11,810,677 (GRCm39)	F60L	possibly damaging	Het
Ripor1	T	A	8: 106,344,072 (GRCm39)	L402Q	possibly damaging	Het
Rptn	C	T	3: 93,304,412 (GRCm39)	H582Y	probably benign	Het
Rusc1	T	A	3: 88,996,990 (GRCm39)	Q611L	probably damaging	Het
Ryr2	A	G	13: 11,610,817 (GRCm39)	V4003A	possibly damaging	Het
Siglech	T	A	7: 55,422,294 (GRCm39)	W300R	probably benign	Het
Slc25a51	T	C	4: 45,399,494 (GRCm39)	D232G	probably damaging	Het
Slc6a11	T	A	6: 114,220,905 (GRCm39)	C479S	probably benign	Het
Spata31h1	T	C	10: 82,127,101 (GRCm39)	T1970A	probably benign	Het
Sspo	G	T	6: 48,450,608 (GRCm39)	G2599V	probably damaging	Het
Tfpt	T	A	7: 3,627,604 (GRCm39)	E116V	probably null	Het
Tmem260	T	A	14: 48,717,774 (GRCm39)	V121E	probably benign	Het
Tmem54	T	C	4: 129,002,120 (GRCm39)	F45L	probably benign	Het
Trim2	T	A	3: 84,080,128 (GRCm39)	N631I	probably damaging	Het
Tshr	C	T	12: 91,474,563 (GRCm39)	T179I	probably damaging	Het
Vmn1r40	A	G	6: 89,691,198 (GRCm39)	N5S	probably benign	Het
Vmn2r68	A	G	7: 84,871,420 (GRCm39)	V621A	possibly damaging	Het
Zc2hc1c	TTTATCC	T	12: 85,343,230 (GRCm39)		probably benign	Het
Zfp644	G	A	5: 106,783,944 (GRCm39)	Q837*	probably null	Het
Zfp773	A	T	7: 7,135,989 (GRCm39)	N202K	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
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
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
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'- ATGTTGACATCTGCAAAGCTGC -3'
(R):5'- AGCTGTAGGAGGCTTTCTGC -3'

Sequencing Primer
(F):5'- TGCTGCTGCTTGGCAAAGAC -3'
(R):5'- AGGAGGCTTTCTGCTGGCC -3'

Posted On

2021-11-19