Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03008:Eif4g3'

407671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif4g3

Ensembl Gene

ENSMUSG00000028760

Gene Name

eukaryotic translation initiation factor 4 gamma, 3

Synonyms

1500002J22Rik, repro8, G1-419-52, 4930523M17Rik, eIF4GII

Accession Numbers

Genbank: NM_172703; MGI: 1923935

Is this an essential gene?

Possibly non essential (E-score: 0.388) question?

Stock #

IGL03008

Quality Score

Status

Chromosome

Chromosomal Location

137993022-138208508 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 138120388 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 380 (G380W)

Ref Sequence

ENSEMBL: ENSMUSP00000145147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058133] [ENSMUST00000084214] [ENSMUST00000084215] [ENSMUST00000105830] [ENSMUST00000105831] [ENSMUST00000203828]

Predicted Effect

probably benign
Transcript: ENSMUST00000058133

SMART Domains

Protein: ENSMUSP00000059465
Gene: ENSMUSG00000028760

Domain	Start	End	E-Value	Type
low complexity region	113	140	N/A	INTRINSIC
low complexity region	167	172	N/A	INTRINSIC
PDB:1LJ2\|D	174	199	1e-9	PDB
low complexity region	212	228	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000084214
AA Change: G215W

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

SMART Domains

Protein: ENSMUSP00000081232
Gene: ENSMUSG00000028760
AA Change: G215W

Domain	Start	End	E-Value	Type
low complexity region	24	43	N/A	INTRINSIC
low complexity region	93	120	N/A	INTRINSIC
low complexity region	147	152	N/A	INTRINSIC
PDB:1LJ2\|D	154	179	8e-9	PDB
low complexity region	192	207	N/A	INTRINSIC
low complexity region	269	310	N/A	INTRINSIC
low complexity region	427	444	N/A	INTRINSIC
low complexity region	534	550	N/A	INTRINSIC
low complexity region	579	588	N/A	INTRINSIC
low complexity region	592	616	N/A	INTRINSIC
Blast:MIF4G	617	708	5e-49	BLAST
Blast:MIF4G	722	765	5e-16	BLAST
MIF4G	768	996	1.42e-65	SMART
low complexity region	1086	1109	N/A	INTRINSIC
MA3	1215	1327	9.29e-38	SMART
eIF5C	1487	1574	7.92e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000084215
AA Change: G197W

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

SMART Domains

Protein: ENSMUSP00000081233
Gene: ENSMUSG00000028760
AA Change: G197W

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
low complexity region	75	102	N/A	INTRINSIC
low complexity region	129	134	N/A	INTRINSIC
PDB:1LJ2\|D	136	161	8e-9	PDB
low complexity region	174	189	N/A	INTRINSIC
low complexity region	251	292	N/A	INTRINSIC
low complexity region	409	426	N/A	INTRINSIC
low complexity region	516	532	N/A	INTRINSIC
low complexity region	561	570	N/A	INTRINSIC
low complexity region	574	598	N/A	INTRINSIC
Blast:MIF4G	599	690	4e-49	BLAST
Blast:MIF4G	704	747	5e-16	BLAST
MIF4G	750	978	1.42e-65	SMART
low complexity region	1068	1113	N/A	INTRINSIC
MA3	1216	1328	9.29e-38	SMART
eIF5C	1488	1575	7.92e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105830
AA Change: G207W

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

SMART Domains

Protein: ENSMUSP00000101456
Gene: ENSMUSG00000028760
AA Change: G207W

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
low complexity region	86	113	N/A	INTRINSIC
low complexity region	140	145	N/A	INTRINSIC
PDB:1LJ2\|D	147	172	1e-7	PDB
low complexity region	261	302	N/A	INTRINSIC
low complexity region	419	436	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105831
AA Change: G204W

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

SMART Domains

Protein: ENSMUSP00000101457
Gene: ENSMUSG00000028760
AA Change: G204W

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC
low complexity region	82	109	N/A	INTRINSIC
low complexity region	136	141	N/A	INTRINSIC
PDB:1LJ2\|D	143	168	8e-9	PDB
low complexity region	181	196	N/A	INTRINSIC
low complexity region	258	299	N/A	INTRINSIC
low complexity region	416	433	N/A	INTRINSIC
low complexity region	523	539	N/A	INTRINSIC
low complexity region	568	577	N/A	INTRINSIC
low complexity region	581	605	N/A	INTRINSIC
Blast:MIF4G	606	697	4e-49	BLAST
Blast:MIF4G	711	754	5e-16	BLAST
MIF4G	757	985	1.42e-65	SMART
low complexity region	1075	1098	N/A	INTRINSIC
MA3	1204	1316	9.29e-38	SMART
eIF5C	1476	1563	7.92e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203828
AA Change: G380W

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

SMART Domains

Protein: ENSMUSP00000145147
Gene: ENSMUSG00000028760
AA Change: G380W

Domain	Start	End	E-Value	Type
low complexity region	41	81	N/A	INTRINSIC
low complexity region	193	208	N/A	INTRINSIC
low complexity region	258	285	N/A	INTRINSIC
low complexity region	312	317	N/A	INTRINSIC
PDB:1LJ2\|D	319	344	9e-9	PDB
low complexity region	357	372	N/A	INTRINSIC
low complexity region	434	475	N/A	INTRINSIC
low complexity region	592	609	N/A	INTRINSIC
low complexity region	699	715	N/A	INTRINSIC
low complexity region	744	753	N/A	INTRINSIC
low complexity region	757	781	N/A	INTRINSIC
Blast:MIF4G	782	873	9e-49	BLAST
Blast:MIF4G	887	930	5e-16	BLAST
MIF4G	933	1161	6e-68	SMART
coiled coil region	1174	1201	N/A	INTRINSIC
low complexity region	1251	1296	N/A	INTRINSIC
MA3	1399	1511	3.9e-40	SMART
eIF5C	1671	1758	3.9e-38	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be part of the eIF4F protein complex, which is involved in mRNA cap recognition and transport of mRNAs to the ribosome. Interestingly, a microRNA (miR-520c-3p) has been found that negatively regulates synthesis of the encoded protein, and this leads to a global decrease in protein translation and cell proliferation. Therefore, this protein is a key component of the anti-tumor activity of miR-520c-3p. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for an ENU induced allele exhibit decreased testes weight, azoospermia, and arrested male meiosis. Mice homozygous for a gene trapped allele exhibit small testes. [provided by MGI curators]

Allele List at MGI

All alleles(27) : Gene trapped(27)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	G	5: 107,491,598		probably null	Het
AF529169	A	G	9: 89,596,678	Y772H	probably damaging	Het
Aga	T	C	8: 53,511,826	S8P	probably benign	Het
Ankrd34c	C	T	9: 89,730,284	M1I	probably null	Het
Ankrd44	T	C	1: 54,766,809	H146R	probably damaging	Het
Bst1	A	G	5: 43,826,262		probably null	Het
Cdh12	A	T	15: 21,480,330	I211F	probably damaging	Het
Cenpj	G	T	14: 56,526,949	D1335E	probably benign	Het
Clpx	G	A	9: 65,322,775	V502I	possibly damaging	Het
Cntnap4	T	C	8: 112,773,590	S505P	probably benign	Het
Cog2	T	C	8: 124,535,392		probably benign	Het
Cped1	A	G	6: 22,233,602	Q819R	probably benign	Het
Cspg4	A	G	9: 56,898,475	E2190G	possibly damaging	Het
Ctsa	G	A	2: 164,837,448	R359Q	probably damaging	Het
Cul9	A	G	17: 46,502,697		probably benign	Het
Dab1	G	T	4: 104,727,580	V306F	probably damaging	Het
Dysf	A	G	6: 84,073,894	I438V	probably benign	Het
Exd1	T	A	2: 119,520,381	K466N	probably benign	Het
Eya3	A	C	4: 132,706,983	D325A	probably damaging	Het
Fmn1	A	G	2: 113,365,100	T382A	unknown	Het
Fry	T	A	5: 150,345,556	D106E	possibly damaging	Het
Gm21957	T	A	7: 125,219,561		noncoding transcript	Het
Gm44511	A	G	6: 128,784,096		probably benign	Het
Gm884	T	C	11: 103,620,467	E225G	unknown	Het
Itga4	A	G	2: 79,325,638	I983V	probably benign	Het
Lrpprc	A	T	17: 84,751,247	D5E	probably benign	Het
Ltbp4	G	T	7: 27,324,364	N747K	probably damaging	Het
Mlh3	T	C	12: 85,240,851	Q1308R	probably benign	Het
Mtfr2	T	A	10: 20,353,439	C63S	possibly damaging	Het
Myh11	T	A	16: 14,204,753	M1661L	probably benign	Het
Myo1c	T	C	11: 75,658,414	M137T	probably benign	Het
Myocd	A	C	11: 65,187,566	L340V	probably damaging	Het
Napsa	A	T	7: 44,585,796	Q335L	possibly damaging	Het
Nlrp4b	C	A	7: 10,714,589	Q240K	probably benign	Het
Npepps	A	C	11: 97,238,158	F400C	probably damaging	Het
Nxpe4	A	T	9: 48,393,438	E275V	probably benign	Het
Ofd1	T	C	X: 166,409,534	D501G	probably benign	Het
Olfr1310	A	G	2: 112,008,523	I221T	possibly damaging	Het
Olfr228	A	T	2: 86,483,334	M136K	probably damaging	Het
Olfr507	T	G	7: 108,622,283	L157R	probably damaging	Het
Olfr525	T	C	7: 140,323,532	Y278H	probably damaging	Het
P2ry1	A	T	3: 61,003,526	T29S	probably benign	Het
Papss1	T	C	3: 131,585,099	V201A	possibly damaging	Het
Paxip1	A	G	5: 27,752,766	V864A	probably benign	Het
Pcdhgc5	T	A	18: 37,821,834	H720Q	probably benign	Het
Pdxdc1	T	C	16: 13,876,159	N133S	possibly damaging	Het
Prkar1a	T	C	11: 109,653,864	I27T	probably damaging	Het
Rnf10	G	T	5: 115,251,296	H271N	possibly damaging	Het
Scn9a	A	G	2: 66,562,511	S246P	probably damaging	Het
Sertad2	G	T	11: 20,647,798		probably benign	Het
Slc22a27	A	G	19: 7,909,702	I274T	possibly damaging	Het
Slc22a5	A	T	11: 53,891,232	V103E	probably damaging	Het
Slc5a9	A	T	4: 111,890,941	F225I	probably benign	Het
Slc6a3	G	A	13: 73,558,285		probably null	Het
Smcr8	A	G	11: 60,778,461	E145G	probably damaging	Het
Spen	A	T	4: 141,476,137	D1726E	possibly damaging	Het
Sphkap	A	T	1: 83,276,831	S779T	probably damaging	Het
Stag1	A	T	9: 100,776,791	N144Y	probably damaging	Het
Strada	T	C	11: 106,170,957	H156R	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tas2r138	A	C	6: 40,613,182	D43E	probably damaging	Het
Tdpoz3	A	T	3: 93,826,335	K106*	probably null	Het
Trbv13-1	A	G	6: 41,116,295	D54G	probably damaging	Het
Ttc39b	A	G	4: 83,247,695	V218A	probably benign	Het
Ttn	G	A	2: 76,780,859	T15697I	probably damaging	Het
Ugt2b38	G	A	5: 87,412,423	T344I	probably benign	Het
Vmn2r94	T	C	17: 18,257,646	M168V	probably benign	Het
Wdr11	T	C	7: 129,606,991		probably benign	Het
Wipf2	T	C	11: 98,892,728		probably benign	Het
Zranb2	T	A	3: 157,546,665		probably null	Het

Other mutations in Eif4g3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Eif4g3	APN	4	138120362	missense	probably benign	0.01
IGL02171:Eif4g3	APN	4	138126589	missense	probably benign	0.03
IGL02487:Eif4g3	APN	4	138203378	missense	possibly damaging	0.92
IGL02514:Eif4g3	APN	4	138126194	missense	possibly damaging	0.87
IGL02622:Eif4g3	APN	4	138097366	splice site	probably benign
IGL02725:Eif4g3	APN	4	138170471	splice site	probably benign
IGL02735:Eif4g3	APN	4	138126211	missense	probably benign	0.40
IGL03077:Eif4g3	APN	4	138125855	missense	probably damaging	1.00
N/A - 535:Eif4g3	UTSW	4	138120428	missense	probably damaging	0.98
R0013:Eif4g3	UTSW	4	138175848	missense	possibly damaging	0.88
R0193:Eif4g3	UTSW	4	138146376	splice site	probably benign
R0240:Eif4g3	UTSW	4	138170562	missense	probably damaging	0.98
R0240:Eif4g3	UTSW	4	138170562	missense	probably damaging	0.98
R0563:Eif4g3	UTSW	4	138175840	splice site	probably benign
R0841:Eif4g3	UTSW	4	138165818	missense	probably damaging	1.00
R0884:Eif4g3	UTSW	4	138151776	missense	possibly damaging	0.76
R1116:Eif4g3	UTSW	4	138091775	critical splice donor site	probably null
R1145:Eif4g3	UTSW	4	138165818	missense	probably damaging	1.00
R1145:Eif4g3	UTSW	4	138165818	missense	probably damaging	1.00
R1192:Eif4g3	UTSW	4	138171186	missense	probably damaging	1.00
R1401:Eif4g3	UTSW	4	138206084	missense	probably damaging	0.99
R1535:Eif4g3	UTSW	4	138097302	missense	probably damaging	1.00
R1571:Eif4g3	UTSW	4	138120408	missense	probably damaging	1.00
R1576:Eif4g3	UTSW	4	138096870	missense	probably damaging	0.99
R1607:Eif4g3	UTSW	4	138126563	missense	probably benign	0.00
R1618:Eif4g3	UTSW	4	138206058	missense	probably damaging	1.00
R1793:Eif4g3	UTSW	4	138171131	missense	probably damaging	1.00
R1823:Eif4g3	UTSW	4	138180491	missense	probably benign	0.37
R1857:Eif4g3	UTSW	4	138175876	missense	possibly damaging	0.67
R1907:Eif4g3	UTSW	4	138158415	missense	probably damaging	1.00
R2041:Eif4g3	UTSW	4	138105306	splice site	probably benign
R2106:Eif4g3	UTSW	4	138082919	start gained	probably benign
R2124:Eif4g3	UTSW	4	138184742	missense	probably damaging	1.00
R2301:Eif4g3	UTSW	4	138172659	missense	probably damaging	1.00
R2519:Eif4g3	UTSW	4	138097318	missense	probably benign	0.37
R3033:Eif4g3	UTSW	4	138103410	missense	probably damaging	1.00
R3870:Eif4g3	UTSW	4	138096900	missense	probably damaging	0.98
R4542:Eif4g3	UTSW	4	138203417	missense	probably damaging	0.99
R4582:Eif4g3	UTSW	4	138171245	missense	probably damaging	1.00
R4607:Eif4g3	UTSW	4	138126458	missense	probably benign	0.03
R4608:Eif4g3	UTSW	4	138126458	missense	probably benign	0.03
R4658:Eif4g3	UTSW	4	138206132	missense	probably damaging	1.00
R4736:Eif4g3	UTSW	4	138198097	missense	probably benign	0.01
R4739:Eif4g3	UTSW	4	138183199	missense	possibly damaging	0.79
R4739:Eif4g3	UTSW	4	138198097	missense	probably benign	0.01
R4740:Eif4g3	UTSW	4	138198097	missense	probably benign	0.01
R4760:Eif4g3	UTSW	4	138084318	missense	possibly damaging	0.46
R4825:Eif4g3	UTSW	4	138194081	missense	probably benign
R4826:Eif4g3	UTSW	4	138177945	missense	possibly damaging	0.95
R4941:Eif4g3	UTSW	4	138170565	missense	probably damaging	1.00
R5040:Eif4g3	UTSW	4	138096889	missense	probably damaging	0.99
R5070:Eif4g3	UTSW	4	138146299	missense	probably benign	0.00
R5155:Eif4g3	UTSW	4	138126743	missense	probably benign	0.36
R5226:Eif4g3	UTSW	4	138096794	missense	possibly damaging	0.93
R5229:Eif4g3	UTSW	4	138096794	missense	possibly damaging	0.93
R5303:Eif4g3	UTSW	4	138126562	missense	probably benign	0.04
R5369:Eif4g3	UTSW	4	138183334	missense	possibly damaging	0.87
R5394:Eif4g3	UTSW	4	138103398	splice site	probably null
R5665:Eif4g3	UTSW	4	138126589	missense	probably benign	0.03
R5678:Eif4g3	UTSW	4	138151742	missense	probably damaging	0.99
R5695:Eif4g3	UTSW	4	138163433	splice site	probably null
R5704:Eif4g3	UTSW	4	138190692	missense	probably damaging	1.00
R5924:Eif4g3	UTSW	4	138201926	missense	probably damaging	1.00
R6214:Eif4g3	UTSW	4	138058003	missense	probably damaging	0.99
R6278:Eif4g3	UTSW	4	138188083	missense	possibly damaging	0.82
R6519:Eif4g3	UTSW	4	137994008	missense	probably benign
R6659:Eif4g3	UTSW	4	138177932	missense	probably damaging	1.00
R6720:Eif4g3	UTSW	4	138175832	splice site	probably null
R6812:Eif4g3	UTSW	4	138103376	missense	probably damaging	1.00
R6922:Eif4g3	UTSW	4	138097335	missense	probably damaging	1.00
R7175:Eif4g3	UTSW	4	138126215	missense	probably damaging	1.00
R7176:Eif4g3	UTSW	4	138171186	missense	probably damaging	1.00
R7598:Eif4g3	UTSW	4	138194124	missense	probably benign	0.02
R7618:Eif4g3	UTSW	4	138171118	missense	probably damaging	1.00
R7805:Eif4g3	UTSW	4	138146354	missense	probably benign	0.00
R7935:Eif4g3	UTSW	4	138096771	missense	probably damaging	1.00
R7983:Eif4g3	UTSW	4	138151593	missense	probably benign	0.00
R8261:Eif4g3	UTSW	4	138171118	missense	possibly damaging	0.46
R8371:Eif4g3	UTSW	4	138096845	missense	probably damaging	1.00
R8499:Eif4g3	UTSW	4	138165928	missense	probably damaging	1.00
RF008:Eif4g3	UTSW	4	138175924	missense	probably damaging	0.98
X0067:Eif4g3	UTSW	4	138163619	critical splice donor site	probably null

Posted On

2016-08-02