Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Ilf3'

595179

Institutional Source

Beutler Lab

Gene Symbol

Ilf3

Ensembl Gene

ENSMUSG00000032178

Gene Name

interleukin enhancer binding factor 3

Synonyms

NF90

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21367871-21405361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21399537 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 599 (N599S)

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

possibly damaging
Transcript: ENSMUST00000067646
AA Change: N599S

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065770
Gene: ENSMUSG00000032178
AA Change: N599S

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: N599S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111074
Gene: ENSMUSG00000032178
AA Change: N599S

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 benign
Transcript: ENSMUST00000213518
AA Change: N612S

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000213603
AA Change: N612S

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000214758
AA Change: N612S

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000214821

Predicted Effect

probably benign
Transcript: ENSMUST00000215169

Predicted Effect

probably benign
Transcript: ENSMUST00000216892
AA Change: N612S

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000217348
AA Change: N74S

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000217498

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,102	C148S	probably damaging	Het
4921530L21Rik	A	G	14: 95,882,112	R102G	probably benign	Het
A230050P20Rik	C	T	9: 20,868,859		probably benign	Het
Agap2	A	G	10: 127,091,088	D1018G	probably damaging	Het
Atm	T	C	9: 53,522,239	N237S	possibly damaging	Het
Card6	G	T	15: 5,098,423	Q1164K	unknown	Het
Cped1	G	A	6: 22,222,431	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,931,108	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,467,044	T87A	probably damaging	Het
Dock4	T	C	12: 40,806,975	I1269T	probably damaging	Het
F11	T	C	8: 45,252,090	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,200,257	S342P	probably damaging	Het
Fam71d	T	C	12: 78,712,133	S76P	probably damaging	Het
Gipr	T	C	7: 19,162,959	I129V	probably benign	Het
Gm5415	T	C	1: 32,546,097	D244G	probably benign	Het
Gria4	A	T	9: 4,464,288	V558D	probably damaging	Het
Gsdme	C	T	6: 50,229,308	G185E	probably damaging	Het
Hgd	T	A	16: 37,593,435	D86E	probably benign	Het
Hmcn1	T	A	1: 150,646,709	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,454,022	N127D	probably damaging	Het
Itsn1	G	A	16: 91,868,083	G1132R	unknown	Het
Jakmip2	A	G	18: 43,571,908	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,182,355	V1670A	probably benign	Het
Lman2	A	T	13: 55,353,077		probably null	Het
Ltbp1	A	T	17: 75,385,124	Y1579F	probably damaging	Het
Mon2	G	A	10: 123,032,588	A520V	probably benign	Het
Mrpl10	T	G	11: 97,047,537	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,401,330	T153S	unknown	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nlrp10	A	G	7: 108,924,488	V595A	probably benign	Het
Nol4	A	T	18: 23,040,023	M7K	probably benign	Het
Oasl1	G	A	5: 114,929,921	S188N	probably damaging	Het
Olfr193	T	C	16: 59,109,771	I280V	probably benign	Het
Olfr709-ps1	C	A	7: 106,927,411	G16V	probably benign	Het
Pcdhga2	A	G	18: 37,669,940	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,429,174	A263V	probably benign	Het
Phf3	T	G	1: 30,829,857	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,436,218	P5A	probably damaging	Het
Plekha6	T	C	1: 133,293,707	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,890,489	I305N	probably damaging	Het
Prex2	A	G	1: 11,181,937	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,861,335	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703	N995S	probably benign	Het
Robo2	C	A	16: 73,897,015	G1375V	probably benign	Het
Rtl1	T	C	12: 109,594,430	Y325C	possibly damaging	Het
Shcbp1	A	C	8: 4,748,720	S400A	probably damaging	Het
Sirpb1c	T	A	3: 15,832,072	Y380F	probably benign	Het
Tbl2	G	C	5: 135,159,475	L374F	probably damaging	Het
Tpr	C	A	1: 150,429,532	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,461	E276V	probably damaging	Het
Vps16	C	T	2: 130,441,703	Q606*	probably null	Het
Vstm5	A	T	9: 15,239,356	Q29L	probably benign	Het
Wipi1	G	T	11: 109,582,423	S250Y	probably damaging	Het

Other mutations in Ilf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Ilf3	APN	9	21396051	missense	probably damaging	1.00
IGL01013:Ilf3	APN	9	21399691	missense	possibly damaging	0.91
IGL01352:Ilf3	APN	9	21392322	missense	possibly damaging	0.89
IGL01975:Ilf3	APN	9	21392379	missense	probably benign	0.03
IGL02826:Ilf3	APN	9	21398044	missense	probably benign	0.20
IGL03238:Ilf3	APN	9	21392350	missense	probably damaging	1.00
PIT4466001:Ilf3	UTSW	9	21403366	missense	unknown
R0047:Ilf3	UTSW	9	21388714	missense	possibly damaging	0.76
R0047:Ilf3	UTSW	9	21388714	missense	possibly damaging	0.76
R0090:Ilf3	UTSW	9	21395414	missense	probably damaging	1.00
R0355:Ilf3	UTSW	9	21397970	missense	probably damaging	1.00
R1768:Ilf3	UTSW	9	21403142	unclassified	probably benign
R1889:Ilf3	UTSW	9	21404767	unclassified	probably benign
R1895:Ilf3	UTSW	9	21404767	unclassified	probably benign
R1918:Ilf3	UTSW	9	21393714	missense	probably damaging	1.00
R2930:Ilf3	UTSW	9	21399590	missense	possibly damaging	0.91
R3912:Ilf3	UTSW	9	21398126	missense	possibly damaging	0.77
R3913:Ilf3	UTSW	9	21398126	missense	possibly damaging	0.77
R4080:Ilf3	UTSW	9	21403134	critical splice acceptor site	probably null
R4412:Ilf3	UTSW	9	21399560	missense	possibly damaging	0.77
R4510:Ilf3	UTSW	9	21399215	missense	possibly damaging	0.95
R4511:Ilf3	UTSW	9	21399215	missense	possibly damaging	0.95
R5201:Ilf3	UTSW	9	21389383	missense	probably damaging	1.00
R5785:Ilf3	UTSW	9	21394872	missense	probably damaging	1.00
R6303:Ilf3	UTSW	9	21403136	unclassified	probably benign
R6406:Ilf3	UTSW	9	21396244	missense	probably damaging	0.99
R6434:Ilf3	UTSW	9	21403151	unclassified	probably benign
R7169:Ilf3	UTSW	9	21395426	missense	probably damaging	0.96
R7410:Ilf3	UTSW	9	21399804	missense	unknown
R7468:Ilf3	UTSW	9	21403411	missense	unknown
R7624:Ilf3	UTSW	9	21398044	missense	probably benign	0.20
R8513:Ilf3	UTSW	9	21388636	missense	possibly damaging	0.92
R9056:Ilf3	UTSW	9	21403138	nonsense	probably null
R9317:Ilf3	UTSW	9	21396126	missense	probably damaging	1.00
R9522:Ilf3	UTSW	9	21394237	missense	probably benign	0.02
X0066:Ilf3	UTSW	9	21392406	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCAGAAAGGCTTTGGGGATAG -3'
(R):5'- ACTTCATTATGCATGGGGCC -3'

Sequencing Primer
(F):5'- CTTTGGGGATAGGCTCTCACC -3'
(R):5'- CTCCCATGCCAAAACCAGGG -3'

Posted On

2019-11-12