Mutagenetix > Incidental Mutation

Incidental Mutation 'R1848:Eif4g1'

207954

Institutional Source

Beutler Lab

Gene Symbol

Eif4g1

Ensembl Gene

ENSMUSG00000045983

Gene Name

eukaryotic translation initiation factor 4, gamma 1

Synonyms

E030015G23Rik

MMRRC Submission

039873-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R1848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20491457-20511633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 20500617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 697 (R697P)

Ref Sequence

ENSEMBL: ENSMUSP00000111117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044783] [ENSMUST00000073840] [ENSMUST00000115457] [ENSMUST00000115460] [ENSMUST00000115461] [ENSMUST00000115463] [ENSMUST00000150333] [ENSMUST00000143939] [ENSMUST00000142344] [ENSMUST00000128594] [ENSMUST00000128840] [ENSMUST00000151679] [ENSMUST00000136713] [ENSMUST00000154594] [ENSMUST00000141034] [ENSMUST00000154950] [ENSMUST00000140576] [ENSMUST00000156226] [ENSMUST00000231618]

AlphaFold

Q6NZJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000044783
AA Change: R744P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047678
Gene: ENSMUSG00000045983
AA Change: R744P

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: R737P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073506
Gene: ENSMUSG00000045983
AA Change: R737P

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: R697P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111117
Gene: ENSMUSG00000045983
AA Change: R697P

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: R744P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111120
Gene: ENSMUSG00000045983
AA Change: R744P

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: R738P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111121
Gene: ENSMUSG00000045983
AA Change: R738P

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: R737P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111123
Gene: ENSMUSG00000045983
AA Change: R737P

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: R678P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144107
Gene: ENSMUSG00000045983
AA Change: R678P

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: ENSMUST00000143939
AA Change: R447P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144320
Gene: ENSMUSG00000045983
AA Change: R447P

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: R738P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116029
Gene: ENSMUSG00000045983
AA Change: R738P

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

probably damaging
Transcript: ENSMUST00000128594
AA Change: R573P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144594
Gene: ENSMUSG00000045983
AA Change: R573P

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

noncoding transcript
Transcript: ENSMUST00000132320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137690

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: 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: 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: 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: ENSMUST00000154950

SMART Domains

Protein: ENSMUSP00000115230
Gene: ENSMUSG00000045983

Domain	Start	End	E-Value	Type
low complexity region	60	81	N/A	INTRINSIC

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: ENSMUST00000231598

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

noncoding transcript
Transcript: ENSMUST00000231477

Predicted Effect

probably benign
Transcript: ENSMUST00000231618

Meta Mutation Damage Score

0.1857

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

98% (120/123)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	A	8: 88,295,121 (GRCm39)	Y86*	probably null	Het
Aadac	A	G	3: 59,947,118 (GRCm39)	E272G	probably damaging	Het
Abcc8	A	T	7: 45,816,326 (GRCm39)	D271E	probably benign	Het
Acan	T	C	7: 78,748,783 (GRCm39)	F1185L	probably benign	Het
Adam1a	A	T	5: 121,657,683 (GRCm39)	C537S	probably damaging	Het
Ago2	A	G	15: 72,995,814 (GRCm39)	V395A	probably benign	Het
Alox15	A	G	11: 70,241,578 (GRCm39)	V101A	probably damaging	Het
Ankra2	T	C	13: 98,407,632 (GRCm39)	I194T	probably damaging	Het
Apobec4	C	A	1: 152,631,981 (GRCm39)	P3H	probably damaging	Het
Arid3b	G	T	9: 57,703,960 (GRCm39)	Y329*	probably null	Het
Atm	A	T	9: 53,379,312 (GRCm39)	S1993T	probably benign	Het
Bpgm	T	G	6: 34,464,669 (GRCm39)	S129A	probably benign	Het
Brat1	A	G	5: 140,704,264 (GRCm39)	D839G	possibly damaging	Het
Ccdc15	A	T	9: 37,253,866 (GRCm39)	S128T	probably benign	Het
Cd300lg	A	T	11: 101,937,032 (GRCm39)		probably benign	Het
Cdc34b	C	A	11: 94,633,303 (GRCm39)	Q168K	probably damaging	Het
Celsr2	A	T	3: 108,308,626 (GRCm39)	V1767E	probably benign	Het
Cep350	T	C	1: 155,829,397 (GRCm39)	D169G	probably benign	Het
Col7a1	A	T	9: 108,798,633 (GRCm39)	D1762V	possibly damaging	Het
Coro7	A	G	16: 4,448,298 (GRCm39)	L724P	probably damaging	Het
Crb1	T	A	1: 139,164,750 (GRCm39)	I1125F	probably damaging	Het
Ctif	T	A	18: 75,653,012 (GRCm39)	D415V	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dhrs2	A	G	14: 55,478,298 (GRCm39)	D237G	probably benign	Het
Dhx9	T	C	1: 153,341,499 (GRCm39)	Q582R	probably damaging	Het
Dnajc1	C	T	2: 18,224,524 (GRCm39)	R443Q	probably damaging	Het
Dnm2	C	T	9: 21,416,977 (GRCm39)	R837W	possibly damaging	Het
Dpf2	C	A	19: 5,956,643 (GRCm39)	Q70H	probably damaging	Het
Dqx1	T	A	6: 83,043,088 (GRCm39)	D608E	probably damaging	Het
Dync2h1	T	A	9: 7,049,166 (GRCm39)	T3245S	probably benign	Het
Ect2l	A	G	10: 18,075,781 (GRCm39)	L35P	probably damaging	Het
Efcab5	A	T	11: 76,994,132 (GRCm39)	L1285Q	probably damaging	Het
Emsy	T	A	7: 98,250,028 (GRCm39)	E753V	probably damaging	Het
Entpd3	A	G	9: 120,387,485 (GRCm39)	I227M	probably damaging	Het
Epn1	T	A	7: 5,092,997 (GRCm39)	V103E	probably damaging	Het
Esrra	T	C	19: 6,889,378 (GRCm39)	D337G	probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fat2	A	G	11: 55,202,384 (GRCm39)	I230T	probably damaging	Het
Fbxl16	A	G	17: 26,035,420 (GRCm39)	I6V	probably benign	Het
Fgf23	T	C	6: 127,050,156 (GRCm39)	I55T	probably damaging	Het
Fibcd1	T	A	2: 31,711,561 (GRCm39)	D288V	probably damaging	Het
Flnb	T	C	14: 7,892,113 (GRCm38)	I594T	probably damaging	Het
Gabbr2	T	C	4: 46,739,823 (GRCm39)	E449G	probably benign	Het
Gbf1	T	G	19: 46,260,476 (GRCm39)	S1130A	possibly damaging	Het
Gipc3	T	C	10: 81,177,099 (GRCm39)	E157G	probably damaging	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm6625	A	C	8: 89,873,462 (GRCm39)		noncoding transcript	Het
Gpx4	A	G	10: 79,891,870 (GRCm39)		probably benign	Het
Grb10	A	G	11: 11,896,029 (GRCm39)	F264L	possibly damaging	Het
Grik3	T	C	4: 125,587,931 (GRCm39)	Y684H	probably damaging	Het
Gstp1	C	T	19: 4,086,795 (GRCm39)		probably benign	Het
H2bc27	A	T	11: 58,839,928 (GRCm39)	I55F	possibly damaging	Het
Haus8	G	A	8: 71,708,767 (GRCm39)		probably benign	Het
Hip1	G	A	5: 135,463,995 (GRCm39)		probably null	Het
Hspbap1	T	A	16: 35,639,134 (GRCm39)		probably null	Het
Htr2b	T	A	1: 86,027,151 (GRCm39)	I452F	possibly damaging	Het
Hydin	T	A	8: 111,296,440 (GRCm39)	H3656Q	probably benign	Het
Klb	T	A	5: 65,506,180 (GRCm39)	D142E	probably benign	Het
Lamb3	A	T	1: 193,016,924 (GRCm39)	T777S	possibly damaging	Het
Lins1	C	A	7: 66,364,070 (GRCm39)	T650K	probably damaging	Het
Loxhd1	A	G	18: 77,369,667 (GRCm39)	K5R	possibly damaging	Het
Lpp	G	A	16: 24,580,405 (GRCm39)	M40I	probably damaging	Het
Mia2	A	T	12: 59,217,037 (GRCm39)		probably benign	Het
Miip	A	C	4: 147,947,549 (GRCm39)	F204V	probably damaging	Het
Mmp21	T	C	7: 133,278,882 (GRCm39)	R323G	probably benign	Het
Mta3	T	A	17: 84,062,980 (GRCm39)		probably benign	Het
Myh1	A	G	11: 67,104,456 (GRCm39)	K1004R	probably benign	Het
Myh14	T	A	7: 44,281,853 (GRCm39)	I810F	probably damaging	Het
Nbas	A	C	12: 13,463,598 (GRCm39)	D1295A	probably damaging	Het
Niban3	T	C	8: 72,056,413 (GRCm39)	M371T	possibly damaging	Het
Npr2	T	G	4: 43,632,384 (GRCm39)	V67G	probably benign	Het
Oas1f	C	A	5: 120,993,492 (GRCm39)	Q235K	probably damaging	Het
Or12d17	T	A	17: 37,777,938 (GRCm39)	S280R	probably damaging	Het
Or13a27	T	A	7: 139,925,900 (GRCm39)	M1L	probably benign	Het
Or1p1	G	T	11: 74,180,039 (GRCm39)	C189F	probably damaging	Het
Or52ae9	T	C	7: 103,390,381 (GRCm39)	N22S	probably benign	Het
Or7e166	C	T	9: 19,624,386 (GRCm39)	H88Y	probably benign	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Pde1b	A	G	15: 103,433,767 (GRCm39)		probably null	Het
Pdilt	T	C	7: 119,088,607 (GRCm39)	T465A	probably benign	Het
Plxnd1	T	C	6: 115,943,507 (GRCm39)	H1233R	probably damaging	Het
Ppm1b	T	A	17: 85,301,552 (GRCm39)	M144K	probably benign	Het
Prkdc	T	C	16: 15,625,922 (GRCm39)	L3316S	probably benign	Het
Prm2	T	A	16: 10,609,455 (GRCm39)		probably benign	Het
Prmt7	T	C	8: 106,963,640 (GRCm39)	V240A	probably benign	Het
Prx	C	A	7: 27,218,313 (GRCm39)	A938E	possibly damaging	Het
Rbm7	A	G	9: 48,402,194 (GRCm39)	V131A	probably benign	Het
Ric1	T	A	19: 29,578,213 (GRCm39)		probably null	Het
Rnf150	A	T	8: 83,590,639 (GRCm39)	M1L	possibly damaging	Het
Rnf20	C	T	4: 49,644,628 (GRCm39)	R298W	probably damaging	Het
Rp1	T	A	1: 4,417,455 (GRCm39)	Y1219F	possibly damaging	Het
Scn7a	A	G	2: 66,514,357 (GRCm39)		probably null	Het
Sdad1	A	G	5: 92,440,510 (GRCm39)		probably null	Het
Septin9	T	C	11: 117,243,909 (GRCm39)		probably benign	Het
Serinc3	T	C	2: 163,487,409 (GRCm39)		probably benign	Het
Shc3	C	T	13: 51,615,424 (GRCm39)	G178R	probably damaging	Het
Slc4a10	A	T	2: 62,146,950 (GRCm39)	K1090M	probably damaging	Het
Slco1a1	T	C	6: 141,868,837 (GRCm39)	I376V	probably benign	Het
Slmap	A	T	14: 26,143,729 (GRCm39)	F719L	probably benign	Het
Smgc	A	G	15: 91,743,956 (GRCm39)	N573D	possibly damaging	Het
Spx	G	A	6: 142,359,805 (GRCm39)		probably null	Het
Srrt	C	G	5: 137,295,207 (GRCm39)	E308Q	probably damaging	Het
Tas2r130	T	A	6: 131,607,560 (GRCm39)	R78S	probably benign	Het
Tchhl1	A	G	3: 93,378,408 (GRCm39)	R371G	probably damaging	Het
Teddm2	C	T	1: 153,726,194 (GRCm39)	A174T	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Trim33	T	C	3: 103,231,956 (GRCm39)		probably benign	Het
Tspan31	A	G	10: 126,905,327 (GRCm39)	V40A	probably damaging	Het
Uevld	A	G	7: 46,594,975 (GRCm39)		probably benign	Het
Vcl	G	T	14: 21,059,063 (GRCm39)	A560S	probably benign	Het
Vmn2r24	T	A	6: 123,793,183 (GRCm39)	C837S	probably damaging	Het
Vmn2r57	C	T	7: 41,077,531 (GRCm39)	V212M	probably damaging	Het
Vps13c	A	G	9: 67,843,622 (GRCm39)	T1968A	probably benign	Het
Vtn	A	G	11: 78,391,393 (GRCm39)	R269G	probably damaging	Het
Wdcp	G	A	12: 4,900,245 (GRCm39)	V34I	possibly damaging	Het
Zc3h14	A	G	12: 98,719,091 (GRCm39)	D152G	possibly damaging	Het
Zfp189	C	T	4: 49,529,266 (GRCm39)	P123L	probably benign	Het
Zfp318	T	C	17: 46,716,981 (GRCm39)	S1038P	possibly damaging	Het
Zfp873	A	G	10: 81,896,406 (GRCm39)	D416G	probably benign	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
IGL00950:Eif4g1	APN	16	20,502,378 (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
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

Predicted Primers

PCR Primer
(F):5'- CTGTGTGGAAATGGGGTCAC -3'
(R):5'- ATTCAGGATGGAGCGTACCCTG -3'

Sequencing Primer
(F):5'- AAATGGGGTCACATTGTATTTGC -3'
(R):5'- TGCGGAACAGGTCCTGTG -3'

Posted On

2014-06-23