Mutagenetix > Incidental Mutation

Incidental Mutation 'R1192:Eif4g3'

100870

Institutional Source

Beutler Lab

Gene Symbol

Eif4g3

Ensembl Gene

ENSMUSG00000028760

Gene Name

eukaryotic translation initiation factor 4 gamma, 3

Synonyms

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

MMRRC Submission

039264-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.404) question?

Stock #

R1192 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137719090-137934397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137898497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1089 (H1089Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084214] [ENSMUST00000084215] [ENSMUST00000105831] [ENSMUST00000140796] [ENSMUST00000203828]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000084214
AA Change: H924Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081232
Gene: ENSMUSG00000028760
AA Change: H924Q

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: H906Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081233
Gene: ENSMUSG00000028760
AA Change: H906Q

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: ENSMUST00000105831
AA Change: H913Q

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

SMART Domains

Protein: ENSMUSP00000101457
Gene: ENSMUSG00000028760
AA Change: H913Q

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

possibly damaging
Transcript: ENSMUST00000140796
AA Change: H348Q

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115946
Gene: ENSMUSG00000028760
AA Change: H348Q

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
low complexity region	16	40	N/A	INTRINSIC
Blast:MIF4G	41	132	2e-49	BLAST
Blast:MIF4G	146	189	3e-16	BLAST
MIF4G	192	420	1.42e-65	SMART
low complexity region	510	533	N/A	INTRINSIC
MA3	639	751	9.29e-38	SMART
eIF5C	911	998	7.92e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203828
AA Change: H1089Q

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

SMART Domains

Protein: ENSMUSP00000145147
Gene: ENSMUSG00000028760
AA Change: H1089Q

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

Meta Mutation Damage Score

0.9438

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

97% (32/33)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahrr	T	A	13: 74,362,522 (GRCm39)	M326L	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankmy1	T	C	1: 92,811,616 (GRCm39)	T591A	probably damaging	Het
Anks4b	A	T	7: 119,773,289 (GRCm39)	I50L	probably benign	Het
Arhgef3	C	A	14: 27,101,663 (GRCm39)	T133N	probably damaging	Het
Arrdc1	T	C	2: 24,816,152 (GRCm39)	I284V	probably benign	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
Ccdc88a	T	A	11: 29,454,049 (GRCm39)	D717E	possibly damaging	Het
Cdh22	A	T	2: 164,977,203 (GRCm39)	F439I	probably damaging	Het
Creld1	G	T	6: 113,466,440 (GRCm39)	C169F	probably damaging	Het
Ctsq	T	A	13: 61,186,859 (GRCm39)	N78I	probably damaging	Het
Eri2	G	T	7: 119,391,540 (GRCm39)	D41E	probably damaging	Het
Exosc9	C	T	3: 36,606,904 (GRCm39)		probably benign	Het
Galnt14	C	T	17: 73,852,133 (GRCm39)		probably benign	Het
Gen1	C	T	12: 11,305,219 (GRCm39)	G192D	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ints14	T	C	9: 64,874,045 (GRCm39)	V99A	possibly damaging	Het
Iqsec1	G	A	6: 90,648,958 (GRCm39)		probably benign	Het
Jarid2	G	T	13: 45,060,021 (GRCm39)	R713L	probably damaging	Het
Nans	T	C	4: 46,502,430 (GRCm39)		probably benign	Het
Nkiras2	T	C	11: 100,516,806 (GRCm39)		probably null	Het
Obscn	A	T	11: 58,958,025 (GRCm39)	D3558E	probably benign	Het
Or6c66	C	T	10: 129,461,906 (GRCm39)	S8N	probably benign	Het
Palb2	G	A	7: 121,727,432 (GRCm39)	T146M	probably benign	Het
Pcgf3	T	C	5: 108,634,054 (GRCm39)	V104A	probably benign	Het
Polr3e	A	G	7: 120,532,531 (GRCm39)	D189G	probably benign	Het
Rfc1	T	C	5: 65,451,254 (GRCm39)	K278R	probably benign	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Shcbp1l	T	A	1: 153,301,253 (GRCm39)	I95N	possibly damaging	Het
Shox2	G	A	3: 66,881,243 (GRCm39)	Q246*	probably null	Het
Slc16a4	G	C	3: 107,206,189 (GRCm39)	E86D	probably benign	Het
Tubgcp2	A	G	7: 139,609,751 (GRCm39)	V202A	probably benign	Het

Other mutations in Eif4g3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Eif4g3	APN	4	137,847,673 (GRCm39)	missense	probably benign	0.01
IGL02171:Eif4g3	APN	4	137,853,900 (GRCm39)	missense	probably benign	0.03
IGL02487:Eif4g3	APN	4	137,930,689 (GRCm39)	missense	possibly damaging	0.92
IGL02514:Eif4g3	APN	4	137,853,505 (GRCm39)	missense	possibly damaging	0.87
IGL02622:Eif4g3	APN	4	137,824,677 (GRCm39)	splice site	probably benign
IGL02725:Eif4g3	APN	4	137,897,782 (GRCm39)	splice site	probably benign
IGL02735:Eif4g3	APN	4	137,853,522 (GRCm39)	missense	probably benign	0.40
IGL03008:Eif4g3	APN	4	137,847,699 (GRCm39)	missense	probably damaging	1.00
IGL03077:Eif4g3	APN	4	137,853,166 (GRCm39)	missense	probably damaging	1.00
N/A - 535:Eif4g3	UTSW	4	137,847,739 (GRCm39)	missense	probably damaging	0.98
R0013:Eif4g3	UTSW	4	137,903,159 (GRCm39)	missense	possibly damaging	0.88
R0193:Eif4g3	UTSW	4	137,873,687 (GRCm39)	splice site	probably benign
R0240:Eif4g3	UTSW	4	137,897,873 (GRCm39)	missense	probably damaging	0.98
R0240:Eif4g3	UTSW	4	137,897,873 (GRCm39)	missense	probably damaging	0.98
R0563:Eif4g3	UTSW	4	137,903,151 (GRCm39)	splice site	probably benign
R0841:Eif4g3	UTSW	4	137,893,129 (GRCm39)	missense	probably damaging	1.00
R0884:Eif4g3	UTSW	4	137,879,087 (GRCm39)	missense	possibly damaging	0.76
R1116:Eif4g3	UTSW	4	137,819,086 (GRCm39)	critical splice donor site	probably null
R1145:Eif4g3	UTSW	4	137,893,129 (GRCm39)	missense	probably damaging	1.00
R1145:Eif4g3	UTSW	4	137,893,129 (GRCm39)	missense	probably damaging	1.00
R1401:Eif4g3	UTSW	4	137,933,395 (GRCm39)	missense	probably damaging	0.99
R1535:Eif4g3	UTSW	4	137,824,613 (GRCm39)	missense	probably damaging	1.00
R1571:Eif4g3	UTSW	4	137,847,719 (GRCm39)	missense	probably damaging	1.00
R1576:Eif4g3	UTSW	4	137,824,181 (GRCm39)	missense	probably damaging	0.99
R1607:Eif4g3	UTSW	4	137,853,874 (GRCm39)	missense	probably benign	0.00
R1618:Eif4g3	UTSW	4	137,933,369 (GRCm39)	missense	probably damaging	1.00
R1793:Eif4g3	UTSW	4	137,898,442 (GRCm39)	missense	probably damaging	1.00
R1823:Eif4g3	UTSW	4	137,907,802 (GRCm39)	missense	probably benign	0.37
R1857:Eif4g3	UTSW	4	137,903,187 (GRCm39)	missense	possibly damaging	0.67
R1907:Eif4g3	UTSW	4	137,885,726 (GRCm39)	missense	probably damaging	1.00
R2041:Eif4g3	UTSW	4	137,832,617 (GRCm39)	splice site	probably benign
R2106:Eif4g3	UTSW	4	137,810,230 (GRCm39)	start gained	probably benign
R2124:Eif4g3	UTSW	4	137,912,053 (GRCm39)	missense	probably damaging	1.00
R2301:Eif4g3	UTSW	4	137,899,970 (GRCm39)	missense	probably damaging	1.00
R2519:Eif4g3	UTSW	4	137,824,629 (GRCm39)	missense	probably benign	0.37
R3033:Eif4g3	UTSW	4	137,830,721 (GRCm39)	missense	probably damaging	1.00
R3870:Eif4g3	UTSW	4	137,824,211 (GRCm39)	missense	probably damaging	0.98
R4542:Eif4g3	UTSW	4	137,930,728 (GRCm39)	missense	probably damaging	0.99
R4582:Eif4g3	UTSW	4	137,898,556 (GRCm39)	missense	probably damaging	1.00
R4607:Eif4g3	UTSW	4	137,853,769 (GRCm39)	missense	probably benign	0.03
R4608:Eif4g3	UTSW	4	137,853,769 (GRCm39)	missense	probably benign	0.03
R4658:Eif4g3	UTSW	4	137,933,443 (GRCm39)	missense	probably damaging	1.00
R4736:Eif4g3	UTSW	4	137,925,408 (GRCm39)	missense	probably benign	0.01
R4739:Eif4g3	UTSW	4	137,925,408 (GRCm39)	missense	probably benign	0.01
R4739:Eif4g3	UTSW	4	137,910,510 (GRCm39)	missense	possibly damaging	0.79
R4740:Eif4g3	UTSW	4	137,925,408 (GRCm39)	missense	probably benign	0.01
R4760:Eif4g3	UTSW	4	137,811,629 (GRCm39)	missense	possibly damaging	0.46
R4825:Eif4g3	UTSW	4	137,921,392 (GRCm39)	missense	probably benign
R4826:Eif4g3	UTSW	4	137,905,256 (GRCm39)	missense	possibly damaging	0.95
R4941:Eif4g3	UTSW	4	137,897,876 (GRCm39)	missense	probably damaging	1.00
R5040:Eif4g3	UTSW	4	137,824,200 (GRCm39)	missense	probably damaging	0.99
R5070:Eif4g3	UTSW	4	137,873,610 (GRCm39)	missense	probably benign	0.00
R5155:Eif4g3	UTSW	4	137,854,054 (GRCm39)	missense	probably benign	0.36
R5226:Eif4g3	UTSW	4	137,824,105 (GRCm39)	missense	possibly damaging	0.93
R5229:Eif4g3	UTSW	4	137,824,105 (GRCm39)	missense	possibly damaging	0.93
R5303:Eif4g3	UTSW	4	137,853,873 (GRCm39)	missense	probably benign	0.04
R5369:Eif4g3	UTSW	4	137,910,645 (GRCm39)	missense	possibly damaging	0.87
R5394:Eif4g3	UTSW	4	137,830,709 (GRCm39)	splice site	probably null
R5665:Eif4g3	UTSW	4	137,853,900 (GRCm39)	missense	probably benign	0.03
R5678:Eif4g3	UTSW	4	137,879,053 (GRCm39)	missense	probably damaging	0.99
R5695:Eif4g3	UTSW	4	137,890,744 (GRCm39)	splice site	probably null
R5704:Eif4g3	UTSW	4	137,918,003 (GRCm39)	missense	probably damaging	1.00
R5924:Eif4g3	UTSW	4	137,929,237 (GRCm39)	missense	probably damaging	1.00
R6214:Eif4g3	UTSW	4	137,785,314 (GRCm39)	missense	probably damaging	0.99
R6278:Eif4g3	UTSW	4	137,915,394 (GRCm39)	missense	possibly damaging	0.82
R6519:Eif4g3	UTSW	4	137,721,319 (GRCm39)	missense	probably benign
R6659:Eif4g3	UTSW	4	137,905,243 (GRCm39)	missense	probably damaging	1.00
R6720:Eif4g3	UTSW	4	137,903,143 (GRCm39)	splice site	probably null
R6812:Eif4g3	UTSW	4	137,830,687 (GRCm39)	missense	probably damaging	1.00
R6922:Eif4g3	UTSW	4	137,824,646 (GRCm39)	missense	probably damaging	1.00
R7175:Eif4g3	UTSW	4	137,853,526 (GRCm39)	missense	probably damaging	1.00
R7176:Eif4g3	UTSW	4	137,898,497 (GRCm39)	missense	probably damaging	1.00
R7598:Eif4g3	UTSW	4	137,921,435 (GRCm39)	missense	probably benign	0.02
R7618:Eif4g3	UTSW	4	137,898,429 (GRCm39)	missense	probably damaging	1.00
R7805:Eif4g3	UTSW	4	137,873,665 (GRCm39)	missense	probably benign	0.00
R7935:Eif4g3	UTSW	4	137,824,082 (GRCm39)	missense	probably damaging	1.00
R7983:Eif4g3	UTSW	4	137,878,904 (GRCm39)	missense	probably benign	0.00
R8261:Eif4g3	UTSW	4	137,898,429 (GRCm39)	missense	possibly damaging	0.46
R8371:Eif4g3	UTSW	4	137,824,156 (GRCm39)	missense	probably damaging	1.00
R8499:Eif4g3	UTSW	4	137,893,239 (GRCm39)	missense	probably damaging	1.00
R8670:Eif4g3	UTSW	4	137,885,823 (GRCm39)	critical splice donor site	probably null
R8672:Eif4g3	UTSW	4	137,853,823 (GRCm39)	missense	possibly damaging	0.75
R8744:Eif4g3	UTSW	4	137,721,372 (GRCm39)	small deletion	probably benign
R8767:Eif4g3	UTSW	4	137,930,779 (GRCm39)	missense	probably damaging	0.99
R8771:Eif4g3	UTSW	4	137,907,848 (GRCm39)	nonsense	probably null
R8989:Eif4g3	UTSW	4	137,912,059 (GRCm39)	missense	probably damaging	1.00
R9292:Eif4g3	UTSW	4	137,921,382 (GRCm39)	missense	possibly damaging	0.82
R9294:Eif4g3	UTSW	4	137,917,968 (GRCm39)	missense	probably damaging	0.98
R9607:Eif4g3	UTSW	4	137,893,045 (GRCm39)	missense	probably benign	0.28
R9617:Eif4g3	UTSW	4	137,824,190 (GRCm39)	missense	probably damaging	0.99
RF008:Eif4g3	UTSW	4	137,903,235 (GRCm39)	missense	probably damaging	0.98
X0067:Eif4g3	UTSW	4	137,890,930 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCAGAGCATTTGAGCCCCGAAG -3'
(R):5'- TAGAGCACTGTGAGGAGCACTGTC -3'

Sequencing Primer
(F):5'- AGTGAGGCCCTGCAATCTTAG -3'
(R):5'- TGAGGAGCACTGTCAGTCAC -3'

Posted On

2014-01-15