Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Eif4enif1'

357937

Institutional Source

Beutler Lab

Gene Symbol

Eif4enif1

Ensembl Gene

ENSMUSG00000020454

Gene Name

eukaryotic translation initiation factor 4E nuclear import factor 1

Synonyms

D11Ertd166e, 2610509L04Rik, Clast4, A930019J01Rik

MMRRC Submission

042033-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.494) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3152392-3194588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3194016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 960 (D960V)

Ref Sequence

ENSEMBL: ENSMUSP00000136768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020734] [ENSMUST00000110048] [ENSMUST00000110049] [ENSMUST00000120721] [ENSMUST00000135223] [ENSMUST00000179770]

AlphaFold

Q9EST3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020734
AA Change: D936V

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

SMART Domains

Protein: ENSMUSP00000020734
Gene: ENSMUSG00000020454
AA Change: D936V

Domain	Start	End	E-Value	Type
Pfam:EIF4E-T	29	688	1.2e-189	PFAM
low complexity region	835	851	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110048
AA Change: D936V

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

SMART Domains

Protein: ENSMUSP00000105675
Gene: ENSMUSG00000020454
AA Change: D936V

Domain	Start	End	E-Value	Type
Pfam:EIF4E-T	29	688	1.2e-189	PFAM
low complexity region	835	851	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110049
AA Change: D960V

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

SMART Domains

Protein: ENSMUSP00000105676
Gene: ENSMUSG00000020454
AA Change: D960V

Domain	Start	End	E-Value	Type
Pfam:EIF4E-T	29	712	2.7e-184	PFAM
low complexity region	859	875	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120721
AA Change: D785V

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

SMART Domains

Protein: ENSMUSP00000112550
Gene: ENSMUSG00000020454
AA Change: D785V

Domain	Start	End	E-Value	Type
Pfam:EIF4E-T	29	99	3.6e-29	PFAM
Pfam:EIF4E-T	98	327	5.1e-41	PFAM
Pfam:EIF4E-T	282	537	7.7e-30	PFAM
low complexity region	684	700	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127950

Predicted Effect

probably benign
Transcript: ENSMUST00000135223

SMART Domains

Protein: ENSMUSP00000122912
Gene: ENSMUSG00000020454

Domain	Start	End	E-Value	Type
Pfam:EIF4E-T	1	239	1.5e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147534

Predicted Effect

probably damaging
Transcript: ENSMUST00000179770
AA Change: D960V

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

SMART Domains

Protein: ENSMUSP00000136768
Gene: ENSMUSG00000020454
AA Change: D960V

Domain	Start	End	E-Value	Type
Pfam:EIF4E-T	29	710	4.3e-160	PFAM
low complexity region	859	875	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159304

SMART Domains

Protein: ENSMUSP00000125536
Gene: ENSMUSG00000020457

Domain	Start	End	E-Value	Type
Pfam:TGS	13	58	5.7e-14	PFAM

Meta Mutation Damage Score

0.6893

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

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 a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,733,280 (GRCm39)		noncoding transcript	Het
Aadacl2fm1	C	T	3: 59,843,735 (GRCm39)	A143V	probably benign	Het
Accs	T	C	2: 93,671,682 (GRCm39)	E236G	probably damaging	Het
Agrn	C	T	4: 156,257,979 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Akap5	C	A	12: 76,374,581 (GRCm39)	C4*	probably null	Het
Amotl2	A	T	9: 102,597,679 (GRCm39)	H146L	probably damaging	Het
Ank1	A	G	8: 23,594,990 (GRCm39)	N666S	probably damaging	Het
Atp10d	A	T	5: 72,403,509 (GRCm39)	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,161,614 (GRCm39)	M582K	probably benign	Het
Brca2	T	A	5: 150,483,452 (GRCm39)		probably null	Het
Ccdc149	A	G	5: 52,561,493 (GRCm39)	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdk5rap2	A	G	4: 70,156,662 (GRCm39)	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,367,379 (GRCm39)	M37L	probably benign	Het
Cenpk	A	T	13: 104,386,020 (GRCm39)	H305L	probably benign	Het
Ces5a	C	A	8: 94,262,305 (GRCm39)	A11S	probably benign	Het
Cfap65	T	C	1: 74,967,520 (GRCm39)	E186G	probably damaging	Het
Cfh	T	A	1: 140,016,546 (GRCm39)	I593F	probably damaging	Het
Clstn2	C	T	9: 97,327,726 (GRCm39)	V961I	probably benign	Het
Cog5	T	A	12: 31,919,405 (GRCm39)		probably null	Het
Col4a4	T	C	1: 82,518,895 (GRCm39)	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,652,316 (GRCm39)	D61G	probably damaging	Het
Dnah10	A	G	5: 124,824,809 (GRCm39)	N655S	probably benign	Het
Dnai1	C	G	4: 41,610,269 (GRCm39)	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,407,996 (GRCm39)	A44V	probably damaging	Het
Fam167b	C	T	4: 129,472,135 (GRCm39)	G12R	probably damaging	Het
Fam20b	A	T	1: 156,515,066 (GRCm39)	Y266*	probably null	Het
Fer1l6	T	A	15: 58,512,060 (GRCm39)	V1509D	probably benign	Het
Fhad1	A	T	4: 141,655,794 (GRCm39)	I105N	probably damaging	Het
Fmo2	T	C	1: 162,716,374 (GRCm39)	D71G	probably damaging	Het
Folr2	T	C	7: 101,493,006 (GRCm39)	T6A	possibly damaging	Het
Fry	A	C	5: 150,321,719 (GRCm39)	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,320,193 (GRCm39)	I21T	probably damaging	Het
Gfra1	T	C	19: 58,441,676 (GRCm39)	Y85C	probably damaging	Het
Gpld1	A	T	13: 25,163,671 (GRCm39)	Y43F	probably benign	Het
Gpld1	T	A	13: 25,163,675 (GRCm39)	Y44*	probably null	Het
Grid2	A	G	6: 63,885,972 (GRCm39)	T123A	probably benign	Het
Grina	T	C	15: 76,133,442 (GRCm39)	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,002,102 (GRCm39)	A659V	probably benign	Het
H2-T10	T	A	17: 36,429,837 (GRCm39)	K319*	probably null	Het
Hey2	A	T	10: 30,710,300 (GRCm39)	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,587,178 (GRCm39)	T13I	probably benign	Het
Il1rap	C	A	16: 26,541,532 (GRCm39)	A591E	probably benign	Het
Ildr1	T	C	16: 36,542,383 (GRCm39)	L261P	probably benign	Het
Jak1	A	G	4: 101,031,354 (GRCm39)	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,159,285 (GRCm39)	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,361,028 (GRCm39)	T592S	probably benign	Het
Lrrc36	A	G	8: 106,178,776 (GRCm39)	T445A	possibly damaging	Het
Ly9	G	A	1: 171,434,806 (GRCm39)	S29F	probably damaging	Het
Mapk7	A	C	11: 61,381,669 (GRCm39)	C32W	probably damaging	Het
Marchf10	C	T	11: 105,255,302 (GRCm39)		probably benign	Het
Mier2	A	T	10: 79,385,031 (GRCm39)	M119K	probably damaging	Het
Mpv17	A	T	5: 31,303,326 (GRCm39)	C59*	probably null	Het
Mrpl27	G	A	11: 94,544,659 (GRCm39)		probably benign	Het
Myo18b	G	A	5: 113,022,340 (GRCm39)	Q351*	probably null	Het
Myo1a	A	G	10: 127,551,557 (GRCm39)	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,360,650 (GRCm39)	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,691,938 (GRCm39)	A513E	probably benign	Het
Neb	T	C	2: 52,110,221 (GRCm39)	D209G	probably damaging	Het
Nkapl	T	A	13: 21,652,457 (GRCm39)	Q52L	unknown	Het
Nptx2	G	A	5: 144,483,250 (GRCm39)	S126N	probably benign	Het
Or2a7	G	A	6: 43,150,977 (GRCm39)	S19N	probably benign	Het
Or52d3	T	A	7: 104,229,268 (GRCm39)	Y138*	probably null	Het
Or7g17	A	T	9: 18,768,476 (GRCm39)	H185L	probably benign	Het
Or8b52	A	G	9: 38,577,128 (GRCm39)	V4A	probably benign	Het
Pclo	A	T	5: 14,764,362 (GRCm39)	R4278S	unknown	Het
Pcnx1	T	G	12: 81,997,068 (GRCm39)	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,363,970 (GRCm39)	N75K	probably benign	Het
Prpf19	T	G	19: 10,875,154 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,759,533 (GRCm39)	S997P	probably damaging	Het
Rangap1	T	C	15: 81,597,118 (GRCm39)	T226A	probably benign	Het
Rimklb	G	A	6: 122,433,365 (GRCm39)	L262F	probably damaging	Het
Rnf169	A	G	7: 99,574,930 (GRCm39)	M555T	probably benign	Het
Rp1l1	A	T	14: 64,267,519 (GRCm39)	D1035V	probably benign	Het
Rps23rg1	A	T	8: 3,633,922 (GRCm39)	S8C	probably damaging	Het
Scd2	T	A	19: 44,289,791 (GRCm39)	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,024,956 (GRCm39)	M84L	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,419,160 (GRCm39)	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,359,794 (GRCm39)	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,297,492 (GRCm39)		probably benign	Het
Slc4a10	T	A	2: 62,127,332 (GRCm39)	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,022,398 (GRCm39)	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,302,008 (GRCm39)	G197S	probably damaging	Het
Smarca2	A	T	19: 26,631,883 (GRCm39)	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,421,548 (GRCm39)	N594K	probably benign	Het
Spata22	A	T	11: 73,236,582 (GRCm39)	D296V	probably damaging	Het
Sphk2	G	A	7: 45,363,058 (GRCm39)	A11V	possibly damaging	Het
Spp1	A	T	5: 104,583,081 (GRCm39)		probably benign	Het
Strn3	T	A	12: 51,656,999 (GRCm39)	I760L	possibly damaging	Het
Syk	A	T	13: 52,796,022 (GRCm39)	Y539F	probably benign	Het
Tdpoz9-ps1	T	C	3: 93,846,093 (GRCm39)		probably null	Het
Thsd7b	T	A	1: 130,138,001 (GRCm39)	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,504,494 (GRCm39)	E42*	probably null	Het
Tom1l1	T	C	11: 90,575,942 (GRCm39)	E30G	probably damaging	Het
Trav10	G	A	14: 53,743,518 (GRCm39)	A40T	probably benign	Het
Trav14-2	G	A	14: 53,878,237 (GRCm39)		probably benign	Het
Tril	T	A	6: 53,795,449 (GRCm39)	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,059,087 (GRCm39)	R179*	probably null	Het
Tspoap1	A	T	11: 87,662,489 (GRCm39)	D562V	possibly damaging	Het
Usp44	A	T	10: 93,682,768 (GRCm39)	H406L	probably damaging	Het
Vangl1	A	G	3: 102,065,608 (GRCm39)	I509T	probably benign	Het
Vax2	T	G	6: 83,688,379 (GRCm39)	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,150,025 (GRCm39)	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,949,566 (GRCm39)	D427V	probably benign	Het
Vwde	A	G	6: 13,205,851 (GRCm39)	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,940,431 (GRCm39)	A769S	probably damaging	Het
Xpo4	A	C	14: 57,855,638 (GRCm39)	S264A	probably benign	Het
Zfp330	A	T	8: 83,496,015 (GRCm39)	C75*	probably null	Het
Zfp526	T	A	7: 24,925,064 (GRCm39)	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,402,930 (GRCm39)	L462R	probably damaging	Het
Zfp719	T	A	7: 43,240,217 (GRCm39)	F602I	probably damaging	Het

Other mutations in Eif4enif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Eif4enif1	APN	11	3,171,143 (GRCm39)	missense	probably damaging	0.96
IGL02237:Eif4enif1	APN	11	3,177,876 (GRCm39)	nonsense	probably null
IGL02372:Eif4enif1	APN	11	3,179,986 (GRCm39)	missense	probably benign	0.09
PIT4283001:Eif4enif1	UTSW	11	3,184,464 (GRCm39)	missense	probably damaging	1.00
R0079:Eif4enif1	UTSW	11	3,192,676 (GRCm39)	nonsense	probably null
R1177:Eif4enif1	UTSW	11	3,179,902 (GRCm39)	missense	probably damaging	1.00
R1220:Eif4enif1	UTSW	11	3,189,493 (GRCm39)	splice site	probably benign
R1511:Eif4enif1	UTSW	11	3,186,278 (GRCm39)	missense	probably benign	0.00
R1675:Eif4enif1	UTSW	11	3,165,686 (GRCm39)	missense	probably benign	0.02
R1908:Eif4enif1	UTSW	11	3,177,455 (GRCm39)	missense	probably damaging	1.00
R1940:Eif4enif1	UTSW	11	3,193,279 (GRCm39)	missense	probably damaging	1.00
R2173:Eif4enif1	UTSW	11	3,192,367 (GRCm39)	splice site	probably null
R2215:Eif4enif1	UTSW	11	3,177,476 (GRCm39)	missense	probably damaging	1.00
R2517:Eif4enif1	UTSW	11	3,171,168 (GRCm39)	missense	probably damaging	1.00
R2869:Eif4enif1	UTSW	11	3,192,586 (GRCm39)	missense	probably damaging	1.00
R2869:Eif4enif1	UTSW	11	3,192,586 (GRCm39)	missense	probably damaging	1.00
R2870:Eif4enif1	UTSW	11	3,192,586 (GRCm39)	missense	probably damaging	1.00
R2870:Eif4enif1	UTSW	11	3,192,586 (GRCm39)	missense	probably damaging	1.00
R2871:Eif4enif1	UTSW	11	3,192,586 (GRCm39)	missense	probably damaging	1.00
R2871:Eif4enif1	UTSW	11	3,192,586 (GRCm39)	missense	probably damaging	1.00
R2873:Eif4enif1	UTSW	11	3,192,586 (GRCm39)	missense	probably damaging	1.00
R3147:Eif4enif1	UTSW	11	3,194,003 (GRCm39)	splice site	probably null
R4195:Eif4enif1	UTSW	11	3,193,186 (GRCm39)	missense	possibly damaging	0.89
R4196:Eif4enif1	UTSW	11	3,193,186 (GRCm39)	missense	possibly damaging	0.89
R4708:Eif4enif1	UTSW	11	3,170,323 (GRCm39)	missense	probably damaging	1.00
R5310:Eif4enif1	UTSW	11	3,192,687 (GRCm39)	missense	probably damaging	1.00
R5546:Eif4enif1	UTSW	11	3,193,989 (GRCm39)	missense	probably damaging	0.99
R5816:Eif4enif1	UTSW	11	3,192,401 (GRCm39)	missense	probably benign	0.13
R6018:Eif4enif1	UTSW	11	3,192,481 (GRCm39)	missense	probably damaging	0.97
R6036:Eif4enif1	UTSW	11	3,189,420 (GRCm39)	missense	probably damaging	1.00
R6036:Eif4enif1	UTSW	11	3,189,420 (GRCm39)	missense	probably damaging	1.00
R6267:Eif4enif1	UTSW	11	3,177,793 (GRCm39)	missense	probably damaging	1.00
R6514:Eif4enif1	UTSW	11	3,190,996 (GRCm39)	missense	probably null	0.01
R6638:Eif4enif1	UTSW	11	3,192,463 (GRCm39)	missense	probably damaging	0.96
R7040:Eif4enif1	UTSW	11	3,184,040 (GRCm39)	missense	probably benign	0.33
R7232:Eif4enif1	UTSW	11	3,165,678 (GRCm39)	missense	possibly damaging	0.75
R7385:Eif4enif1	UTSW	11	3,170,269 (GRCm39)	missense	probably damaging	1.00
R7478:Eif4enif1	UTSW	11	3,177,709 (GRCm39)	nonsense	probably null
R7749:Eif4enif1	UTSW	11	3,192,608 (GRCm39)	missense	probably damaging	0.99
R8381:Eif4enif1	UTSW	11	3,177,470 (GRCm39)	missense	probably damaging	1.00
R9029:Eif4enif1	UTSW	11	3,174,716 (GRCm39)	missense	probably damaging	1.00
R9622:Eif4enif1	UTSW	11	3,165,714 (GRCm39)	missense	probably benign	0.26
R9646:Eif4enif1	UTSW	11	3,170,280 (GRCm39)	missense	probably damaging	1.00
R9694:Eif4enif1	UTSW	11	3,170,384 (GRCm39)	missense	probably damaging	0.98
R9747:Eif4enif1	UTSW	11	3,163,267 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTACTTTGCTGCACTGACAC -3'
(R):5'- TATGTGGATCCCCTAAACATCTTC -3'

Sequencing Primer
(F):5'- GCACTGACACTCTTCTCTCCATAG -3'
(R):5'- CACATAGTGTGCTCCAATGTAAAAGC -3'

Posted On

2015-11-11