Mutagenetix > Incidental Mutation

Incidental Mutation 'R7624:Ilf3'

589329

Institutional Source

Beutler Lab

Gene Symbol

Ilf3

Ensembl Gene

ENSMUSG00000032178

Gene Name

interleukin enhancer binding factor 3

Synonyms

NF90

MMRRC Submission

045689-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7624 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21279167-21316657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21309340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 486 (S486P)

Ref Sequence

ENSEMBL: ENSMUSP00000111074 (fasta)

Gene Model

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

AlphaFold

Q9Z1X4

Predicted Effect

probably benign
Transcript: ENSMUST00000067646
AA Change: S486P

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000065770
Gene: ENSMUSG00000032178
AA Change: S486P

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: S486P

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111074
Gene: ENSMUSG00000032178
AA Change: S486P

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: S499P

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000213603
AA Change: S499P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214217

Predicted Effect

probably benign
Transcript: ENSMUST00000214758
AA Change: S499P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000214821

Predicted Effect

probably benign
Transcript: ENSMUST00000216892
AA Change: S499P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000217348

Predicted Effect

probably benign
Transcript: ENSMUST00000217498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215438

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	C	A	9: 53,366,068 (GRCm39)	R2533L	probably damaging	Het
Caprin1	T	A	2: 103,603,022 (GRCm39)	M514L	possibly damaging	Het
Ccdc78	A	G	17: 26,006,126 (GRCm39)	E98G	probably damaging	Het
Cmya5	A	T	13: 93,226,865 (GRCm39)	M2741K	possibly damaging	Het
Cnot1	T	G	8: 96,478,447 (GRCm39)	R959S	probably damaging	Het
Col12a1	G	T	9: 79,553,076 (GRCm39)		probably null	Het
Col4a3	A	G	1: 82,696,605 (GRCm39)	T177A	probably benign	Het
Cpa3	T	C	3: 20,279,307 (GRCm39)	N211D	possibly damaging	Het
Cripto	C	T	9: 110,775,017 (GRCm39)		probably benign	Het
Cryba1	T	C	11: 77,613,543 (GRCm39)	Y36C	probably damaging	Het
Ctnna1	T	A	18: 35,377,897 (GRCm39)	I632N	probably benign	Het
D630045J12Rik	T	C	6: 38,126,498 (GRCm39)	N1504S	probably damaging	Het
Dgkz	C	A	2: 91,773,019 (GRCm39)	R346L	probably damaging	Het
Dnajc21	G	A	15: 10,461,318 (GRCm39)	R211C	probably benign	Het
Dnajc21	A	T	15: 10,461,320 (GRCm39)	I210N	probably damaging	Het
Dscam	T	C	16: 96,411,524 (GRCm39)	D1784G	probably damaging	Het
Eya3	A	G	4: 132,400,262 (GRCm39)	T94A	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat3	T	C	9: 15,871,165 (GRCm39)	D3742G	possibly damaging	Het
Ficd	T	C	5: 113,876,751 (GRCm39)	F309L	probably benign	Het
Gfra1	A	T	19: 58,226,878 (GRCm39)	M451K	probably benign	Het
Gm43517	T	A	12: 49,437,961 (GRCm39)	L318Q		Het
Gsc	A	T	12: 104,439,310 (GRCm39)	V22E	possibly damaging	Het
Il4ra	T	C	7: 125,168,280 (GRCm39)	Y100H	probably damaging	Het
Itga10	T	A	3: 96,560,269 (GRCm39)	H594Q	probably benign	Het
Kcnf1	T	C	12: 17,226,137 (GRCm39)	D28G	probably benign	Het
Kiss1	A	G	1: 133,257,160 (GRCm39)	K53R	possibly damaging	Het
Lcn5	A	G	2: 25,551,426 (GRCm39)	I182V	probably benign	Het
Lcorl	T	C	5: 45,859,307 (GRCm39)	D269G	probably benign	Het
Letm2	A	T	8: 26,082,553 (GRCm39)	C174*	probably null	Het
Met	T	G	6: 17,558,834 (GRCm39)	V1154G	probably damaging	Het
Mindy3	A	G	2: 12,424,000 (GRCm39)	S22P	probably benign	Het
Mroh2b	G	A	15: 4,946,613 (GRCm39)	R471Q	probably damaging	Het
Nfe2l3	T	C	6: 51,435,252 (GRCm39)	L604P	probably damaging	Het
Or12e10	A	G	2: 87,640,683 (GRCm39)	Q173R	probably damaging	Het
Or14a256	A	G	7: 86,265,769 (GRCm39)	F28S	possibly damaging	Het
Or5h18	T	A	16: 58,847,382 (GRCm39)	Q296L	possibly damaging	Het
Or8b3b	C	T	9: 38,583,919 (GRCm39)	V274I	probably benign	Het
Or8u9	A	T	2: 86,001,564 (GRCm39)	I199N	possibly damaging	Het
Or9r7	A	C	10: 129,962,455 (GRCm39)	I157S	probably damaging	Het
Pcdha9	T	A	18: 37,132,849 (GRCm39)	Y639*	probably null	Het
Pom121l2	A	T	13: 22,167,699 (GRCm39)	I657L	probably damaging	Het
Prr14l	T	A	5: 32,986,967 (GRCm39)	T843S	possibly damaging	Het
Rln1	A	T	19: 29,309,499 (GRCm39)	N93K	probably damaging	Het
Rpl3l	A	T	17: 24,951,401 (GRCm39)	M101L	probably benign	Het
Rtkn	A	G	6: 83,129,158 (GRCm39)	Y551C	probably benign	Het
Rundc1	G	C	11: 101,324,305 (GRCm39)	R337P	possibly damaging	Het
Scarf1	T	A	11: 75,405,242 (GRCm39)		probably null	Het
Serpinb1b	T	A	13: 33,275,622 (GRCm39)		probably null	Het
Sgsm1	A	T	5: 113,422,201 (GRCm39)	C484*	probably null	Het
Slc22a19	T	A	19: 7,650,668 (GRCm39)	K547*	probably null	Het
Slc22a19	T	C	19: 7,671,183 (GRCm39)	T177A	probably benign	Het
Slc6a5	A	C	7: 49,591,614 (GRCm39)	K526N	probably benign	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Stard9	T	C	2: 120,518,627 (GRCm39)	I517T	probably benign	Het
Taf15	A	T	11: 83,395,849 (GRCm39)	D518V	unknown	Het
Tenm4	A	G	7: 96,545,192 (GRCm39)	M2440V	possibly damaging	Het
Tm6sf1	A	G	7: 81,518,458 (GRCm39)	M122V	possibly damaging	Het
Tmprss9	T	A	10: 80,728,053 (GRCm39)	S548T	possibly damaging	Het
Trim62	A	T	4: 128,777,471 (GRCm39)		probably benign	Het
Ugt2b34	C	T	5: 87,039,141 (GRCm39)	V507M	possibly damaging	Het
Usp16	T	A	16: 87,273,693 (GRCm39)	M423K	probably benign	Het
Vmn1r199	T	A	13: 22,566,906 (GRCm39)	S67T	probably benign	Het
Vmn1r62	A	T	7: 5,678,600 (GRCm39)	M94L	probably benign	Het
Wnk4	G	T	11: 101,155,180 (GRCm39)	E364*	probably null	Het
Xpo1	T	A	11: 23,232,584 (GRCm39)	I368N	probably damaging	Het
Zfp366	A	G	13: 99,382,804 (GRCm39)	T656A	probably benign	Het
Zfp934	T	C	13: 62,666,338 (GRCm39)	M113V	probably benign	Het
Zkscan2	A	G	7: 123,097,994 (GRCm39)	V134A	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
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'- ATCAGAGATAACTTCGAGGAACTG -3'
(R):5'- CTGCTCTGTCCTGGCAATAG -3'

Sequencing Primer
(F):5'- GACTGTGCTGCACGCTTC -3'
(R):5'- GGCAATAGGTTATTTCTAGCACCC -3'

Posted On

2019-10-24