Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02487:Eif4g3'

295477

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif4g3

Ensembl Gene

ENSMUSG00000028760

Gene Name

eukaryotic translation initiation factor 4 gamma, 3

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL02487

Quality Score

Status

Chromosome

Chromosomal Location

137719090-137934397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137930689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1665 (V1665A)

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

possibly damaging
Transcript: ENSMUST00000084214
AA Change: V1481A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081232
Gene: ENSMUSG00000028760
AA Change: V1481A

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

possibly damaging
Transcript: ENSMUST00000084215
AA Change: V1482A

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081233
Gene: ENSMUSG00000028760
AA Change: V1482A

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

possibly damaging
Transcript: ENSMUST00000105831
AA Change: V1470A

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101457
Gene: ENSMUSG00000028760
AA Change: V1470A

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

noncoding transcript
Transcript: ENSMUST00000133902

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140796
AA Change: V905A

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115946
Gene: ENSMUSG00000028760
AA Change: V905A

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

noncoding transcript
Transcript: ENSMUST00000148074

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203828
AA Change: V1665A

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145147
Gene: ENSMUSG00000028760
AA Change: V1665A

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	T	A	11: 54,227,769 (GRCm39)	I308N	possibly damaging	Het
Adal	C	T	2: 120,985,877 (GRCm39)	T204I	probably benign	Het
Akirin1	A	G	4: 123,637,357 (GRCm39)	F76S	probably benign	Het
Arhgef5	A	T	6: 43,260,916 (GRCm39)	N1447I	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
B230217C12Rik	A	G	11: 97,733,054 (GRCm39)	N125S	probably benign	Het
Dcaf11	G	T	14: 55,806,571 (GRCm39)	K457N	probably benign	Het
Dnah10	G	A	5: 124,870,916 (GRCm39)	V2348M	possibly damaging	Het
Fat4	A	T	3: 38,941,394 (GRCm39)	I96F	probably damaging	Het
Gm29253	T	C	1: 75,149,321 (GRCm39)		probably null	Het
Gvin-ps6	A	G	7: 106,022,471 (GRCm39)		noncoding transcript	Het
Hnrnpm	C	A	17: 33,867,787 (GRCm39)	G676C	probably damaging	Het
Iah1	T	C	12: 21,371,440 (GRCm39)	M185T	probably damaging	Het
Klc1	A	T	12: 111,738,886 (GRCm39)	I45F	probably damaging	Het
Lce1h	G	A	3: 92,671,048 (GRCm39)	P35S	unknown	Het
Lrrc37a	T	C	11: 103,386,863 (GRCm39)	E2419G	unknown	Het
Lrrc8c	T	A	5: 105,754,457 (GRCm39)	S77R	probably benign	Het
Mcm3ap	T	A	10: 76,343,389 (GRCm39)		probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Ntng1	A	T	3: 109,842,363 (GRCm39)	S137T	probably damaging	Het
Odf2	C	A	2: 29,810,851 (GRCm39)	A578E	possibly damaging	Het
Pecam1	G	A	11: 106,562,606 (GRCm39)	T698I	probably damaging	Het
Pex10	A	T	4: 155,155,190 (GRCm39)	H288L	probably damaging	Het
Pkhd1l1	T	C	15: 44,322,822 (GRCm39)	V36A	possibly damaging	Het
Podxl	T	C	6: 31,499,957 (GRCm39)	*504W	probably null	Het
Rab42	A	G	4: 132,029,614 (GRCm39)	S203P	probably benign	Het
Rsf1	T	C	7: 97,288,698 (GRCm39)	S192P	probably damaging	Het
Scap	C	T	9: 110,207,758 (GRCm39)	T489I	probably benign	Het
Sost	C	A	11: 101,857,633 (GRCm39)	R56L	possibly damaging	Het
Speer4a3	T	A	5: 26,156,605 (GRCm39)	I125F	probably benign	Het
Spmip10	T	A	18: 56,727,571 (GRCm39)	W90R	possibly damaging	Het
Sptbn4	A	G	7: 27,118,522 (GRCm39)	V264A	probably damaging	Het
Stx3	A	G	19: 11,760,469 (GRCm39)	V236A	probably damaging	Het
Syt2	T	C	1: 134,668,603 (GRCm39)	F5S	probably damaging	Het
Thrap3	T	C	4: 126,060,794 (GRCm39)	D855G	possibly damaging	Het
Ticrr	T	C	7: 79,332,769 (GRCm39)	V874A	possibly damaging	Het
Tmem26	A	G	10: 68,614,563 (GRCm39)	E326G	probably benign	Het
Tsga13	A	T	6: 30,884,362 (GRCm39)	Y119N	probably damaging	Het
Tspoap1	C	T	11: 87,653,342 (GRCm39)	T136I	possibly damaging	Het
Ttc21b	T	C	2: 66,065,500 (GRCm39)	T425A	probably benign	Het
Ttc27	A	G	17: 75,163,549 (GRCm39)	Y719C	probably damaging	Het
Usp10	C	A	8: 120,675,514 (GRCm39)	S511Y	probably damaging	Het
Vmn1r197	A	G	13: 22,512,792 (GRCm39)	M238V	probably damaging	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
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
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

Posted On

2015-04-16