Mutagenetix > Incidental Mutation

Incidental Mutation 'R4510:Ilf3'

331213

Institutional Source

Beutler Lab

Gene Symbol

Ilf3

Ensembl Gene

ENSMUSG00000032178

Gene Name

interleukin enhancer binding factor 3

Synonyms

NF90

MMRRC Submission

041585-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21279167-21316657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21310511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 547 (T547A)

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: T547A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065770
Gene: ENSMUSG00000032178
AA Change: T547A

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

possibly damaging
Transcript: ENSMUST00000115414
AA Change: T547A

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111074
Gene: ENSMUSG00000032178
AA Change: T547A

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: T560A

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213603
AA Change: T560A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214217

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214758
AA Change: T560A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216892
AA Change: T560A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217348
AA Change: T22A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000215169

Predicted Effect

probably benign
Transcript: ENSMUST00000214821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215438

Predicted Effect

probably benign
Transcript: ENSMUST00000217498

Meta Mutation Damage Score

0.0783

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

96% (50/52)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,819 (GRCm39)	D397E	probably benign	Het
Abcc10	A	G	17: 46,618,136 (GRCm39)	F1005L	probably damaging	Het
Ackr4	T	C	9: 103,975,930 (GRCm39)	E339G	probably benign	Het
Adam39	G	T	8: 41,279,328 (GRCm39)	C573F	probably damaging	Het
Anks1b	A	G	10: 90,346,652 (GRCm39)	T651A	probably benign	Het
Aoc1	C	A	6: 48,884,740 (GRCm39)	H594Q	probably damaging	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
Atp4a	G	T	7: 30,423,678 (GRCm39)	E928*	probably null	Het
Atp5pf	T	C	16: 84,624,862 (GRCm39)	D104G	probably benign	Het
Atp8b5	A	G	4: 43,320,629 (GRCm39)	T206A	probably damaging	Het
Atrn	G	A	2: 130,777,497 (GRCm39)	W182*	probably null	Het
Bltp2	T	C	11: 78,168,154 (GRCm39)	S1530P	possibly damaging	Het
Cacna1e	G	A	1: 154,437,579 (GRCm39)	T257I	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Crebrf	A	G	17: 26,961,938 (GRCm39)	Y345C	probably benign	Het
Cyp26b1	G	A	6: 84,551,473 (GRCm39)	R248W	probably damaging	Het
Dclk3	C	A	9: 111,297,060 (GRCm39)	H201Q	probably benign	Het
Ddx17	A	T	15: 79,422,793 (GRCm39)	V315E	probably damaging	Het
Dhrs11	T	C	11: 84,716,342 (GRCm39)	*51W	probably null	Het
Fgfr4	C	A	13: 55,309,328 (GRCm39)	P455Q	possibly damaging	Het
Gabbr1	A	G	17: 37,380,103 (GRCm39)	K697E	probably damaging	Het
Gcnt1	G	A	19: 17,307,641 (GRCm39)	T28I	probably benign	Het
Gga2	G	A	7: 121,620,301 (GRCm39)	T4M	unknown	Het
Gm12185	T	A	11: 48,799,305 (GRCm39)	H396L	possibly damaging	Het
Gm21976	A	G	13: 98,441,839 (GRCm39)	R123G	probably benign	Het
Hecw1	A	C	13: 14,531,776 (GRCm39)	V166G	probably damaging	Het
Hpx	A	G	7: 105,241,295 (GRCm39)	V372A	possibly damaging	Het
Igkv2-109	A	G	6: 68,279,962 (GRCm39)	Y61C	probably damaging	Het
Igsf1	A	G	X: 48,875,050 (GRCm39)	F789S	probably damaging	Het
Il4ra	A	G	7: 125,175,280 (GRCm39)	D496G	possibly damaging	Het
Insrr	C	A	3: 87,715,978 (GRCm39)	P558T	possibly damaging	Het
Ints9	A	G	14: 65,266,381 (GRCm39)	D411G	possibly damaging	Het
Irak3	T	A	10: 119,981,813 (GRCm39)	H393L	probably damaging	Het
Isx	G	A	8: 75,600,298 (GRCm39)	M10I	probably benign	Het
Itga11	A	G	9: 62,668,870 (GRCm39)	D709G	probably damaging	Het
Kcng2	G	T	18: 80,338,930 (GRCm39)	R453S	probably benign	Het
Kif5b	A	G	18: 6,214,011 (GRCm39)	V664A	probably benign	Het
Lalba	A	G	15: 98,380,422 (GRCm39)	L44P	probably benign	Het
Ldlrad1	T	G	4: 107,066,715 (GRCm39)	F17V	probably benign	Het
Lnx1	C	T	5: 74,780,853 (GRCm39)	D382N	probably damaging	Het
Lrp1	T	C	10: 127,429,717 (GRCm39)	Y451C	probably damaging	Het
Lrp2	A	T	2: 69,310,406 (GRCm39)	N2722K	possibly damaging	Het
Mctp1	G	A	13: 76,973,391 (GRCm39)	V431I	probably benign	Het
Mmrn2	T	C	14: 34,125,016 (GRCm39)	F866L	possibly damaging	Het
Mylk2	A	G	2: 152,759,330 (GRCm39)	E367G	probably damaging	Het
Nfatc1	A	G	18: 80,678,794 (GRCm39)	S865P	probably damaging	Het
Nol6	G	C	4: 41,123,526 (GRCm39)	T74R	probably damaging	Het
Notch2	T	C	3: 98,053,637 (GRCm39)	M2100T	probably benign	Het
Parp1	A	G	1: 180,418,841 (GRCm39)	K667R	possibly damaging	Het
Phlda3	A	G	1: 135,694,400 (GRCm39)	T72A	probably damaging	Het
Polg	T	C	7: 79,105,270 (GRCm39)	Q758R	probably benign	Het
Polq	G	A	16: 36,868,925 (GRCm39)	R765H	probably damaging	Het
Pramel19	A	T	4: 101,798,757 (GRCm39)	M243L	probably benign	Het
Prkd1	T	C	12: 50,439,762 (GRCm39)	D355G	possibly damaging	Het
Prpf8	T	C	11: 75,382,652 (GRCm39)	Y398H	probably damaging	Het
Ripk1	T	C	13: 34,210,731 (GRCm39)	Y309H	probably damaging	Het
Rngtt	A	T	4: 33,339,032 (GRCm39)	Q279L	possibly damaging	Het
Rusf1	A	T	7: 127,875,312 (GRCm39)	F319Y	probably damaging	Het
Samd4	T	A	14: 47,315,042 (GRCm39)	V114D	probably benign	Het
Sec23ip	G	A	7: 128,380,900 (GRCm39)	E956K	probably damaging	Het
Slc4a1ap	A	T	5: 31,684,747 (GRCm39)	T128S	probably benign	Het
Slc5a11	A	T	7: 122,834,858 (GRCm39)	I6F	probably benign	Het
Slc6a19	A	C	13: 73,832,094 (GRCm39)	L494R	probably damaging	Het
Slc6a21	A	G	7: 44,936,713 (GRCm39)	D189G	probably damaging	Het
Slc7a1	G	T	5: 148,277,372 (GRCm39)	A381D	probably damaging	Het
Smc4	T	A	3: 68,923,980 (GRCm39)		probably null	Het
Stk19	T	C	17: 35,051,504 (GRCm39)	E17G	probably damaging	Het
Tekt5	A	C	16: 10,175,877 (GRCm39)	V556G	probably benign	Het
Tenm4	T	C	7: 96,544,070 (GRCm39)	F2029L	probably benign	Het
Thnsl1	T	C	2: 21,217,236 (GRCm39)	V330A	probably damaging	Het
Tnfrsf21	A	G	17: 43,375,910 (GRCm39)	D432G	probably damaging	Het
Tnip1	T	A	11: 54,817,616 (GRCm39)	S244C	probably benign	Het
Tnrc6c	A	T	11: 117,633,784 (GRCm39)	N1294I	possibly damaging	Het
Trpm3	A	G	19: 22,965,381 (GRCm39)	I1625M	probably benign	Het
Ttn	A	T	2: 76,575,773 (GRCm39)	V25040E	probably damaging	Het
Vwa5a	A	G	9: 38,633,853 (GRCm39)	N19D	possibly damaging	Het
Washc2	A	T	6: 116,197,517 (GRCm39)	D250V	probably damaging	Het
Xpo1	A	G	11: 23,237,401 (GRCm39)	T755A	possibly damaging	Het
Zfp462	C	T	4: 55,008,934 (GRCm39)	T300I	possibly damaging	Het
Zfp937	A	C	2: 150,080,431 (GRCm39)	T154P	probably damaging	Het
Zzef1	A	G	11: 72,778,996 (GRCm39)	D1819G	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
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
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'- AGATCCAGTTAGGGGTTCAAATG -3'
(R):5'- ACAGTGTGTAGGGGCTGAAC -3'

Sequencing Primer
(F):5'- GCTTAGCCAGTGACTGTTTCC -3'
(R):5'- TGTGTAGGGGCTGAACTAACCC -3'

Posted On

2015-07-21