Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00950:Eif4g1'

29171

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif4g1

Ensembl Gene

ENSMUSG00000045983

Gene Name

eukaryotic translation initiation factor 4, gamma 1

Synonyms

E030015G23Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

IGL00950

Quality Score

Status

Chromosome

Chromosomal Location

20491457-20511633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20502378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 942 (K942E)

Ref Sequence

ENSEMBL: ENSMUSP00000111121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044783] [ENSMUST00000073840] [ENSMUST00000115457] [ENSMUST00000115460] [ENSMUST00000115461] [ENSMUST00000115463] [ENSMUST00000150333] [ENSMUST00000128594] [ENSMUST00000143939] [ENSMUST00000142344] [ENSMUST00000156226] [ENSMUST00000141034] [ENSMUST00000151679] [ENSMUST00000128840] [ENSMUST00000140576] [ENSMUST00000136713] [ENSMUST00000154594] [ENSMUST00000231618]

AlphaFold

Q6NZJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000044783
AA Change: K948E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047678
Gene: ENSMUSG00000045983
AA Change: K948E

Domain	Start	End	E-Value	Type
low complexity region	60	81	N/A	INTRINSIC
PDB:1LJ2\|D	179	206	1e-10	PDB
low complexity region	260	286	N/A	INTRINSIC
low complexity region	436	457	N/A	INTRINSIC
low complexity region	464	487	N/A	INTRINSIC
Blast:MIF4G	638	683	7e-9	BLAST
low complexity region	685	707	N/A	INTRINSIC
MIF4G	765	993	5.14e-72	SMART
low complexity region	1035	1047	N/A	INTRINSIC
low complexity region	1092	1106	N/A	INTRINSIC
low complexity region	1157	1178	N/A	INTRINSIC
low complexity region	1186	1201	N/A	INTRINSIC
MA3	1242	1354	3.83e-39	SMART
low complexity region	1441	1452	N/A	INTRINSIC
eIF5C	1508	1595	3.78e-33	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000073840
AA Change: K941E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073506
Gene: ENSMUSG00000045983
AA Change: K941E

Domain	Start	End	E-Value	Type
low complexity region	53	74	N/A	INTRINSIC
PDB:1LJ2\|D	172	199	1e-10	PDB
low complexity region	253	279	N/A	INTRINSIC
low complexity region	429	450	N/A	INTRINSIC
low complexity region	457	480	N/A	INTRINSIC
Blast:MIF4G	631	676	7e-9	BLAST
low complexity region	678	700	N/A	INTRINSIC
MIF4G	758	986	5.14e-72	SMART
low complexity region	1028	1040	N/A	INTRINSIC
low complexity region	1085	1099	N/A	INTRINSIC
low complexity region	1150	1171	N/A	INTRINSIC
low complexity region	1179	1194	N/A	INTRINSIC
MA3	1235	1347	3.83e-39	SMART
low complexity region	1434	1445	N/A	INTRINSIC
eIF5C	1501	1588	3.78e-33	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104051

Predicted Effect

probably damaging
Transcript: ENSMUST00000115457
AA Change: K901E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111117
Gene: ENSMUSG00000045983
AA Change: K901E

Domain	Start	End	E-Value	Type
low complexity region	13	34	N/A	INTRINSIC
PDB:1LJ2\|D	132	159	9e-11	PDB
low complexity region	213	239	N/A	INTRINSIC
low complexity region	389	410	N/A	INTRINSIC
low complexity region	417	440	N/A	INTRINSIC
Blast:MIF4G	591	636	7e-9	BLAST
low complexity region	638	660	N/A	INTRINSIC
MIF4G	718	946	5.14e-72	SMART
low complexity region	988	1000	N/A	INTRINSIC
low complexity region	1045	1059	N/A	INTRINSIC
low complexity region	1110	1131	N/A	INTRINSIC
low complexity region	1139	1154	N/A	INTRINSIC
MA3	1195	1307	3.83e-39	SMART
low complexity region	1394	1405	N/A	INTRINSIC
eIF5C	1461	1548	3.78e-33	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115460
AA Change: K948E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111120
Gene: ENSMUSG00000045983
AA Change: K948E

Domain	Start	End	E-Value	Type
low complexity region	60	81	N/A	INTRINSIC
PDB:1LJ2\|D	179	206	1e-10	PDB
low complexity region	260	286	N/A	INTRINSIC
low complexity region	436	457	N/A	INTRINSIC
low complexity region	464	487	N/A	INTRINSIC
Blast:MIF4G	638	683	7e-9	BLAST
low complexity region	685	707	N/A	INTRINSIC
MIF4G	765	993	5.14e-72	SMART
low complexity region	1035	1047	N/A	INTRINSIC
low complexity region	1092	1106	N/A	INTRINSIC
low complexity region	1157	1178	N/A	INTRINSIC
low complexity region	1186	1201	N/A	INTRINSIC
MA3	1242	1354	3.83e-39	SMART
low complexity region	1441	1452	N/A	INTRINSIC
eIF5C	1508	1595	3.78e-33	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115461
AA Change: K942E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111121
Gene: ENSMUSG00000045983
AA Change: K942E

Domain	Start	End	E-Value	Type
low complexity region	53	74	N/A	INTRINSIC
PDB:1LJ2\|D	172	199	1e-10	PDB
low complexity region	253	279	N/A	INTRINSIC
low complexity region	429	450	N/A	INTRINSIC
low complexity region	457	480	N/A	INTRINSIC
Blast:MIF4G	631	676	8e-9	BLAST
low complexity region	678	693	N/A	INTRINSIC
MIF4G	759	987	5.14e-72	SMART
low complexity region	1029	1041	N/A	INTRINSIC
low complexity region	1086	1100	N/A	INTRINSIC
low complexity region	1151	1172	N/A	INTRINSIC
low complexity region	1180	1195	N/A	INTRINSIC
MA3	1236	1348	3.83e-39	SMART
low complexity region	1435	1446	N/A	INTRINSIC
eIF5C	1502	1589	3.78e-33	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115463
AA Change: K941E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111123
Gene: ENSMUSG00000045983
AA Change: K941E

Domain	Start	End	E-Value	Type
low complexity region	53	74	N/A	INTRINSIC
PDB:1LJ2\|D	172	199	1e-10	PDB
low complexity region	253	279	N/A	INTRINSIC
low complexity region	429	450	N/A	INTRINSIC
low complexity region	457	480	N/A	INTRINSIC
Blast:MIF4G	631	676	7e-9	BLAST
low complexity region	678	700	N/A	INTRINSIC
MIF4G	758	986	5.14e-72	SMART
low complexity region	1030	1036	N/A	INTRINSIC
low complexity region	1078	1092	N/A	INTRINSIC
low complexity region	1143	1164	N/A	INTRINSIC
low complexity region	1172	1187	N/A	INTRINSIC
MA3	1228	1340	3.83e-39	SMART
low complexity region	1427	1438	N/A	INTRINSIC
eIF5C	1494	1581	3.78e-33	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150333
AA Change: K882E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144107
Gene: ENSMUSG00000045983
AA Change: K882E

Domain	Start	End	E-Value	Type
PDB:1LJ2\|D	113	140	5e-11	PDB
low complexity region	194	220	N/A	INTRINSIC
low complexity region	370	391	N/A	INTRINSIC
low complexity region	398	421	N/A	INTRINSIC
Blast:MIF4G	572	613	9e-8	BLAST
low complexity region	619	641	N/A	INTRINSIC
MIF4G	699	900	1.1e-52	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000128594
AA Change: K777E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144594
Gene: ENSMUSG00000045983
AA Change: K777E

Domain	Start	End	E-Value	Type
PDB:1LJ2\|D	8	35	5e-11	PDB
low complexity region	89	115	N/A	INTRINSIC
low complexity region	265	286	N/A	INTRINSIC
low complexity region	293	316	N/A	INTRINSIC
Blast:MIF4G	467	512	4e-9	BLAST
low complexity region	514	536	N/A	INTRINSIC
MIF4G	594	795	1.1e-52	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000143939
AA Change: K651E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144320
Gene: ENSMUSG00000045983
AA Change: K651E

Domain	Start	End	E-Value	Type
low complexity region	139	160	N/A	INTRINSIC
low complexity region	167	190	N/A	INTRINSIC
Blast:MIF4G	341	386	6e-9	BLAST
low complexity region	388	410	N/A	INTRINSIC
MIF4G	468	696	2.2e-74	SMART
low complexity region	738	750	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC
low complexity region	860	881	N/A	INTRINSIC
low complexity region	889	904	N/A	INTRINSIC
MA3	945	1057	1.7e-41	SMART
low complexity region	1144	1155	N/A	INTRINSIC
eIF5C	1211	1298	1.8e-35	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000142344
AA Change: K942E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116029
Gene: ENSMUSG00000045983
AA Change: K942E

Domain	Start	End	E-Value	Type
low complexity region	53	74	N/A	INTRINSIC
PDB:1LJ2\|D	172	199	5e-11	PDB
low complexity region	253	279	N/A	INTRINSIC
low complexity region	429	450	N/A	INTRINSIC
low complexity region	457	480	N/A	INTRINSIC
Blast:MIF4G	631	672	6e-8	BLAST
low complexity region	678	693	N/A	INTRINSIC
MIF4G	759	958	5.49e-49	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132320

Predicted Effect

probably benign
Transcript: ENSMUST00000156226

SMART Domains

Protein: ENSMUSP00000119215
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	53	74	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141034

SMART Domains

Protein: ENSMUSP00000120035
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	60	81	N/A	INTRINSIC
PDB:4F02\|F	175	200	4e-11	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000151679

SMART Domains

Protein: ENSMUSP00000120698
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	13	34	N/A	INTRINSIC
PDB:1LJ2\|D	132	159	8e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000128840

SMART Domains

Protein: ENSMUSP00000143861
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
PDB:1LJ2\|D	85	112	5e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000140576

SMART Domains

Protein: ENSMUSP00000117587
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	20	41	N/A	INTRINSIC
PDB:1LJ2\|D	129	156	3e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000136713

SMART Domains

Protein: ENSMUSP00000143999
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
PDB:1LJ2\|D	85	112	3e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000154594

SMART Domains

Protein: ENSMUSP00000144233
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
PDB:1LJ2\|D	8	35	3e-12	PDB
low complexity region	89	115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231598

Predicted Effect

probably benign
Transcript: ENSMUST00000231618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231477

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the eukaryotic translation initiation factors (eIF) that play important roles in translation initiation by mediating recruitment of additional initiation factors and providing a scaffold for ribosome/mRNA-bridging. Along with eIF4A and eIF4E, the encoded protein forms the eIF4F complex that bridges the 5' UTR with the polyadenylated 3' UTR resulting in mRNA circularization, enhanced translation initiation and mRNA stability. Through its association with eIF3, the encoded protein mediates recruitment of the 43S pre-initiation complex to mRNA. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes for this gene have been identified on chromosomes 2 and 13. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for an amino acid substitution (R1207H) are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	T	C	7: 66,770,660 (GRCm39)	V923A	possibly damaging	Het
Als2	G	A	1: 59,254,541 (GRCm39)	A272V	probably benign	Het
Aoc1l1	A	C	6: 48,955,065 (GRCm39)	N635T	possibly damaging	Het
Chrne	C	T	11: 70,509,983 (GRCm39)		probably benign	Het
Dhx34	C	T	7: 15,933,751 (GRCm39)	R947H	probably damaging	Het
Dnah7b	A	T	1: 46,253,482 (GRCm39)	M1796L	probably benign	Het
Dstyk	C	T	1: 132,387,726 (GRCm39)	T820I	probably damaging	Het
Fbn1	C	T	2: 125,200,743 (GRCm39)	G1318E	probably damaging	Het
Galnt5	T	C	2: 57,889,144 (GRCm39)	V248A	probably benign	Het
Gcnt4	A	G	13: 97,083,064 (GRCm39)	Y120C	probably damaging	Het
Gdf5	A	G	2: 155,783,626 (GRCm39)	V442A	probably damaging	Het
H2-Q4	A	C	17: 35,601,834 (GRCm39)	D232A	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Htt	A	G	5: 35,048,785 (GRCm39)	I2423V	probably benign	Het
Itk	T	A	11: 46,258,723 (GRCm39)	I60F	probably damaging	Het
Izumo1	T	A	7: 45,272,295 (GRCm39)	C25*	probably null	Het
Katnip	T	A	7: 125,442,393 (GRCm39)	D767E	probably benign	Het
Lamc1	G	T	1: 153,116,241 (GRCm39)	P980H	probably damaging	Het
Ncor2	C	A	5: 125,163,954 (GRCm39)	R367L	unknown	Het
Pcdhb17	A	T	18: 37,619,059 (GRCm39)		probably null	Het
Rnf123	C	A	9: 107,944,594 (GRCm39)		probably null	Het
Sh3bgrl2	T	A	9: 83,459,543 (GRCm39)	F34I	probably damaging	Het
Sharpin	T	C	15: 76,232,424 (GRCm39)	E171G	probably damaging	Het
Slc22a30	A	T	19: 8,313,152 (GRCm39)	D544E	probably benign	Het
Slc36a1	T	C	11: 55,116,954 (GRCm39)	C328R	probably damaging	Het
Sntg2	T	C	12: 30,362,680 (GRCm39)		probably benign	Het
Sox13	A	G	1: 133,314,844 (GRCm39)	V272A	probably benign	Het
Sppl2b	T	G	10: 80,699,928 (GRCm39)	L37R	probably damaging	Het
Strip1	T	A	3: 107,528,761 (GRCm39)	S390C	probably damaging	Het
Stxbp5	T	A	10: 9,684,346 (GRCm39)		probably benign	Het
Supt16	T	C	14: 52,399,255 (GRCm39)	E1008G	possibly damaging	Het
Vmn1r174	C	A	7: 23,453,911 (GRCm39)	H192Q	possibly damaging	Het
Vsir	C	T	10: 60,200,063 (GRCm39)	Q154*	probably null	Het
Xrn2	A	T	2: 146,870,066 (GRCm39)	R252*	probably null	Het

Other mutations in Eif4g1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Eif4g1	APN	16	20,505,504 (GRCm39)	intron	probably benign
IGL00707:Eif4g1	APN	16	20,507,764 (GRCm39)	missense	probably damaging	1.00
IGL01397:Eif4g1	APN	16	20,498,425 (GRCm39)	missense	probably damaging	0.98
IGL01657:Eif4g1	APN	16	20,500,966 (GRCm39)	missense	possibly damaging	0.94
IGL01875:Eif4g1	APN	16	20,499,790 (GRCm39)	missense	probably damaging	0.96
IGL02728:Eif4g1	APN	16	20,505,502 (GRCm39)	intron	probably benign
IGL03155:Eif4g1	APN	16	20,511,167 (GRCm39)	missense	probably damaging	1.00
IGL03339:Eif4g1	APN	16	20,499,734 (GRCm39)	missense	possibly damaging	0.72
R0032:Eif4g1	UTSW	16	20,504,648 (GRCm39)	missense	probably damaging	1.00
R0032:Eif4g1	UTSW	16	20,504,648 (GRCm39)	missense	probably damaging	1.00
R0138:Eif4g1	UTSW	16	20,494,095 (GRCm39)	missense	probably damaging	0.99
R0556:Eif4g1	UTSW	16	20,494,544 (GRCm39)	missense	probably damaging	0.99
R0576:Eif4g1	UTSW	16	20,502,818 (GRCm39)	missense	probably damaging	0.98
R1424:Eif4g1	UTSW	16	20,497,692 (GRCm39)	missense	probably benign	0.03
R1469:Eif4g1	UTSW	16	20,498,758 (GRCm39)	missense	possibly damaging	0.86
R1469:Eif4g1	UTSW	16	20,498,758 (GRCm39)	missense	possibly damaging	0.86
R1487:Eif4g1	UTSW	16	20,497,623 (GRCm39)	unclassified	probably benign
R1659:Eif4g1	UTSW	16	20,499,811 (GRCm39)	missense	probably damaging	0.99
R1697:Eif4g1	UTSW	16	20,498,530 (GRCm39)	missense	probably damaging	0.99
R1848:Eif4g1	UTSW	16	20,500,617 (GRCm39)	missense	probably damaging	1.00
R1855:Eif4g1	UTSW	16	20,505,911 (GRCm39)	missense	possibly damaging	0.77
R1865:Eif4g1	UTSW	16	20,497,398 (GRCm39)	missense	probably damaging	0.99
R3001:Eif4g1	UTSW	16	20,511,134 (GRCm39)	missense	probably damaging	1.00
R3002:Eif4g1	UTSW	16	20,511,134 (GRCm39)	missense	probably damaging	1.00
R4402:Eif4g1	UTSW	16	20,497,593 (GRCm39)	unclassified	probably benign
R4477:Eif4g1	UTSW	16	20,497,593 (GRCm39)	unclassified	probably benign
R4478:Eif4g1	UTSW	16	20,497,593 (GRCm39)	unclassified	probably benign
R4479:Eif4g1	UTSW	16	20,497,593 (GRCm39)	unclassified	probably benign
R4480:Eif4g1	UTSW	16	20,497,593 (GRCm39)	unclassified	probably benign
R4623:Eif4g1	UTSW	16	20,500,095 (GRCm39)	unclassified	probably benign
R4658:Eif4g1	UTSW	16	20,504,684 (GRCm39)	missense	possibly damaging	0.78
R4751:Eif4g1	UTSW	16	20,505,265 (GRCm39)	missense	possibly damaging	0.89
R4859:Eif4g1	UTSW	16	20,500,923 (GRCm39)	missense	probably benign	0.44
R5267:Eif4g1	UTSW	16	20,504,283 (GRCm39)	missense	probably damaging	0.99
R5376:Eif4g1	UTSW	16	20,502,577 (GRCm39)	missense	probably damaging	1.00
R5560:Eif4g1	UTSW	16	20,505,645 (GRCm39)	missense	probably benign
R5719:Eif4g1	UTSW	16	20,507,761 (GRCm39)	missense	probably damaging	1.00
R6632:Eif4g1	UTSW	16	20,504,270 (GRCm39)	missense	probably damaging	0.99
R6849:Eif4g1	UTSW	16	20,499,495 (GRCm39)	missense	probably benign	0.08
R7134:Eif4g1	UTSW	16	20,500,252 (GRCm39)	missense	probably damaging	1.00
R7793:Eif4g1	UTSW	16	20,507,364 (GRCm39)	missense	probably benign	0.00
R7861:Eif4g1	UTSW	16	20,498,452 (GRCm39)	missense	probably benign
R8309:Eif4g1	UTSW	16	20,507,578 (GRCm39)	missense	probably benign	0.19
R8365:Eif4g1	UTSW	16	20,502,277 (GRCm39)	missense	probably damaging	1.00
R8726:Eif4g1	UTSW	16	20,494,232 (GRCm39)	missense	probably damaging	1.00
R8778:Eif4g1	UTSW	16	20,492,196 (GRCm39)	intron	probably benign
R9604:Eif4g1	UTSW	16	20,500,255 (GRCm39)	missense	possibly damaging	0.90
R9658:Eif4g1	UTSW	16	20,502,863 (GRCm39)	missense	probably benign	0.01
R9779:Eif4g1	UTSW	16	20,498,251 (GRCm39)	missense	probably damaging	0.97
X0062:Eif4g1	UTSW	16	20,503,251 (GRCm39)	missense	probably damaging	1.00
X0065:Eif4g1	UTSW	16	20,501,476 (GRCm39)	missense	probably damaging	1.00
Z1176:Eif4g1	UTSW	16	20,492,158 (GRCm39)	intron	probably benign
Z1177:Eif4g1	UTSW	16	20,505,116 (GRCm39)	frame shift	probably null
Z1177:Eif4g1	UTSW	16	20,502,655 (GRCm39)	missense	probably benign	0.06

Posted On

2013-04-17