Mutagenetix > Incidental Mutation

Incidental Mutation 'R2301:Eif4g3'

244417

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

040300-MU

Accession Numbers

Essential gene?

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

Stock #

R2301 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137719090-137934397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137899970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 970 (D970E)

Ref Sequence

ENSEMBL: ENSMUSP00000081233 (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: D988E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081232
Gene: ENSMUSG00000028760
AA Change: D988E

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: D970E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081233
Gene: ENSMUSG00000028760
AA Change: D970E

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: D977E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101457
Gene: ENSMUSG00000028760
AA Change: D977E

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: ENSMUST00000140796
AA Change: D412E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115946
Gene: ENSMUSG00000028760
AA Change: D412E

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: D1153E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145147
Gene: ENSMUSG00000028760
AA Change: D1153E

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Catsper1	A	G	19: 5,390,426 (GRCm39)	K602E	probably benign	Het
Chst13	A	T	6: 90,295,271 (GRCm39)	S47R	probably damaging	Het
Clrn1	T	G	3: 58,753,773 (GRCm39)	Y196S	probably damaging	Het
Csmd3	A	G	15: 47,595,394 (GRCm39)	S2022P	probably damaging	Het
Dnhd1	T	A	7: 105,354,606 (GRCm39)	F3123I	probably damaging	Het
Dpp9	C	T	17: 56,501,973 (GRCm39)	E532K	probably benign	Het
Fam222b	T	C	11: 78,045,369 (GRCm39)	V310A	probably damaging	Het
Gm16380	A	G	9: 53,791,484 (GRCm39)		noncoding transcript	Het
Gtf2a1l	G	T	17: 89,018,900 (GRCm39)	R328L	probably benign	Het
Hectd4	T	A	5: 121,491,600 (GRCm39)	F3679L	probably benign	Het
Itgb8	T	C	12: 119,166,190 (GRCm39)	I114V	probably benign	Het
Klf10	A	G	15: 38,297,326 (GRCm39)	V223A	possibly damaging	Het
Lyn	G	A	4: 3,780,959 (GRCm39)	R345H	probably damaging	Het
Med13l	T	A	5: 118,731,512 (GRCm39)	C63S	probably damaging	Het
Nlrp1a	T	C	11: 70,996,927 (GRCm39)	T960A	possibly damaging	Het
Ogfod1	C	T	8: 94,763,996 (GRCm39)	S27L	probably damaging	Het
Or4k51	T	A	2: 111,584,621 (GRCm39)	V9E	probably benign	Het
Pcdha1	A	G	18: 37,289,236 (GRCm39)	Y864C	probably damaging	Het
Pkd1	A	G	17: 24,793,586 (GRCm39)	K1758E	probably benign	Het
Polk	T	C	13: 96,620,652 (GRCm39)	E516G	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slco5a1	C	T	1: 12,949,486 (GRCm39)	G635S	probably damaging	Het
Sptbn2	G	A	19: 4,784,166 (GRCm39)	R636Q	probably benign	Het
Tmem139	G	T	6: 42,240,364 (GRCm39)	C57F	possibly damaging	Het
Traf5	T	C	1: 191,729,926 (GRCm39)	N375S	probably benign	Het
Tti2	T	C	8: 31,645,823 (GRCm39)	V379A	probably benign	Het
Zfp106	T	C	2: 120,366,131 (GRCm39)	E92G	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
R1192:Eif4g3	UTSW	4	137,898,497 (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
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'- TCACCTAAAACTCTACTTGGTACC -3'
(R):5'- CAGTCAGCAGTTCCTCCATG -3'

Sequencing Primer
(F):5'- TGTAATTATCCCAGCACTCGGGAG -3'
(R):5'- AGCAGTTCCTCCATGGCTTC -3'

Posted On

2014-10-30