Mutagenetix > Incidental Mutation

Incidental Mutation 'R0436:Eif4ebp3'

98878

Institutional Source

Beutler Lab

Gene Symbol

Eif4ebp3

Ensembl Gene

ENSMUSG00000090264

Gene Name

eukaryotic translation initiation factor 4E binding protein 3

Synonyms

4E-BP3

MMRRC Submission

038637-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R0436 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

36797113-36798970 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 36797354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036765] [ENSMUST00000036765] [ENSMUST00000142977] [ENSMUST00000173875]

AlphaFold

Q80VV3

Predicted Effect

probably benign
Transcript: ENSMUST00000006209

SMART Domains

Protein: ENSMUSP00000006209
Gene: ENSMUSG00000006050

Domain	Start	End	E-Value	Type
Pfam:SRA1	65	208	1e-67	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000036765

SMART Domains

Protein: ENSMUSP00000039298
Gene: ENSMUSG00000090264

Domain	Start	End	E-Value	Type
Pfam:eIF_4EBP	3	101	4.8e-40	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000036765

SMART Domains

Protein: ENSMUSP00000039298
Gene: ENSMUSG00000090264

Domain	Start	End	E-Value	Type
Pfam:eIF_4EBP	3	101	4.8e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140061

SMART Domains

Protein: ENSMUSP00000121811
Gene: ENSMUSG00000024483

Domain	Start	End	E-Value	Type
low complexity region	54	70	N/A	INTRINSIC
low complexity region	77	94	N/A	INTRINSIC
low complexity region	355	375	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142977

SMART Domains

Protein: ENSMUSP00000120290
Gene: ENSMUSG00000024483

Domain	Start	End	E-Value	Type
low complexity region	20	38	N/A	INTRINSIC
low complexity region	48	78	N/A	INTRINSIC
low complexity region	91	109	N/A	INTRINSIC
ANK	207	236	2.11e2	SMART
ANK	240	269	3.31e-1	SMART
ANK	274	303	5.24e-4	SMART
ANK	307	336	7.64e-6	SMART
ANK	340	369	2.7e-6	SMART
ANK	374	403	3.23e-4	SMART
ANK	407	436	1.61e-4	SMART
ANK	440	469	5.16e-3	SMART
ANK	473	502	4.16e-7	SMART
ANK	507	536	1.68e-2	SMART
ANK	537	566	7.02e-5	SMART
ANK	570	599	7.95e-4	SMART
ANK	603	632	4.56e-4	SMART
ANK	637	666	9.64e-3	SMART
ANK	670	699	6.71e-2	SMART
coiled coil region	815	855	N/A	INTRINSIC
ANK	1057	1086	2.07e-2	SMART
ANK	1090	1119	2.48e-5	SMART
ANK	1124	1153	3.85e-2	SMART
ANK	1157	1186	1.61e-4	SMART
ANK	1192	1221	1.24e-5	SMART
ANK	1226	1255	1.59e-3	SMART
ANK	1259	1288	3.91e-3	SMART
ANK	1294	1323	5.93e-3	SMART
ANK	1327	1356	9.41e-6	SMART
ANK	1360	1393	3.8e-1	SMART
coiled coil region	1422	1486	N/A	INTRINSIC
low complexity region	1509	1526	N/A	INTRINSIC
low complexity region	1538	1557	N/A	INTRINSIC
low complexity region	1585	1604	N/A	INTRINSIC
KH	1693	1763	5.04e-13	SMART
low complexity region	1968	2001	N/A	INTRINSIC
low complexity region	2041	2057	N/A	INTRINSIC
low complexity region	2064	2081	N/A	INTRINSIC
low complexity region	2334	2346	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173202

Predicted Effect

probably benign
Transcript: ENSMUST00000173482

Predicted Effect

probably benign
Transcript: ENSMUST00000173875

SMART Domains

Protein: ENSMUSP00000133360
Gene: ENSMUSG00000006050

Domain	Start	End	E-Value	Type
Pfam:SRA1	72	217	1.1e-70	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.4%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the EIF4EBP family, which consists of proteins that bind to eukaryotic translation initiation factor 4E and regulate its assembly into EIF4F, the multi-subunit translation initiation factor that recognizes the mRNA cap structure. Read-through transcription from the neighboring upstream gene (MASK or ANKHD1) generates a transcript (MASK-BP3) that encodes a protein comprised of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,461,682 (GRCm39)		probably benign	Het
Abcb10	C	T	8: 124,697,740 (GRCm39)	G195S	probably benign	Het
Adrb2	A	G	18: 62,312,624 (GRCm39)	V67A	possibly damaging	Het
Alx4	A	T	2: 93,498,702 (GRCm39)	K145*	probably null	Het
Arl8a	G	A	1: 135,074,718 (GRCm39)	M1I	probably null	Het
Btbd16	G	A	7: 130,387,783 (GRCm39)	S134N	probably benign	Het
Ccdc136	T	A	6: 29,414,933 (GRCm39)	L474Q	probably damaging	Het
Cebpz	A	G	17: 79,243,079 (GRCm39)	Y192H	probably benign	Het
Cep95	A	G	11: 106,709,511 (GRCm39)	Q109R	probably null	Het
Cfap54	G	T	10: 92,874,837 (GRCm39)	Q520K	possibly damaging	Het
Cog2	C	T	8: 125,275,253 (GRCm39)		probably benign	Het
Cul1	A	G	6: 47,500,707 (GRCm39)	N702S	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmxl2	T	C	9: 54,291,034 (GRCm39)	D2472G	probably damaging	Het
Drgx	T	C	14: 32,330,040 (GRCm39)	F81S	probably damaging	Het
Ect2	A	G	3: 27,204,244 (GRCm39)	F22L	probably benign	Het
Ehd4	A	T	2: 119,932,822 (GRCm39)	D201E	probably damaging	Het
Exd2	T	C	12: 80,537,544 (GRCm39)		probably benign	Het
Gtf2a1	A	C	12: 91,535,047 (GRCm39)		probably null	Het
H2-DMb1	A	G	17: 34,378,630 (GRCm39)	Y256C	probably damaging	Het
Haus6	T	C	4: 86,504,044 (GRCm39)	R527G	probably benign	Het
Helb	C	T	10: 119,930,117 (GRCm39)		probably benign	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Hk1	A	T	10: 62,135,054 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,295,624 (GRCm39)	K2611R	probably damaging	Het
Hrc	A	G	7: 44,985,557 (GRCm39)	H236R	possibly damaging	Het
Hunk	T	A	16: 90,261,042 (GRCm39)	Y178N	probably damaging	Het
Iftap	T	C	2: 101,440,864 (GRCm39)		probably benign	Het
Jakmip2	G	A	18: 43,691,234 (GRCm39)	Q616*	probably null	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Msantd4	C	T	9: 4,385,180 (GRCm39)	R302C	probably damaging	Het
Nae1	T	C	8: 105,249,868 (GRCm39)		probably benign	Het
Nek4	C	T	14: 30,692,429 (GRCm39)	L293F	probably damaging	Het
Odf2l	C	T	3: 144,831,877 (GRCm39)	T44I	possibly damaging	Het
Or52s19	A	G	7: 103,007,948 (GRCm39)	V151A	possibly damaging	Het
Otog	G	A	7: 45,915,360 (GRCm39)		probably benign	Het
Ppp1r21	C	T	17: 88,873,117 (GRCm39)	T425I	possibly damaging	Het
Prrc2b	A	G	2: 32,120,672 (GRCm39)	E2204G	probably damaging	Het
Prrc2c	A	C	1: 162,532,883 (GRCm39)		probably benign	Het
Ptgs2	T	C	1: 149,980,028 (GRCm39)		probably benign	Het
Slc12a8	T	A	16: 33,371,455 (GRCm39)	V197E	probably damaging	Het
Syne3	A	G	12: 104,913,183 (GRCm39)	W593R	possibly damaging	Het
Tmem63a	A	T	1: 180,800,298 (GRCm39)	T696S	probably benign	Het
Tnks2	A	G	19: 36,826,758 (GRCm39)	D165G	possibly damaging	Het
Trim43a	T	C	9: 88,470,240 (GRCm39)	W349R	probably damaging	Het
Unc45b	T	C	11: 82,820,393 (GRCm39)		probably benign	Het
Vmn1r4	T	A	6: 56,933,947 (GRCm39)	N150K	probably damaging	Het
Wdfy4	C	A	14: 32,805,769 (GRCm39)		probably benign	Het
Wdr77	T	A	3: 105,867,342 (GRCm39)	D63E	probably damaging	Het
Zan	T	C	5: 137,463,164 (GRCm39)	T672A	unknown	Het
Zdhhc17	A	T	10: 110,817,851 (GRCm39)		probably null	Het

Predicted Primers

Posted On

2014-01-10