Mutagenetix > Incidental Mutations

Incidental Mutation 'R7040:Eif4enif1'

547009

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R7040 (G1)

Quality Score

103.008

Status

Not validated

Chromosome

Chromosomal Location

3202392-3244588 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 3234040 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 521 (V521G)

Ref Sequence

ENSEMBL: ENSMUSP00000136768 (fasta)

Gene Model

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

AlphaFold

Q9EST3

Predicted Effect

probably benign
Transcript: ENSMUST00000020734

SMART Domains

Protein: ENSMUSP00000020734
Gene: ENSMUSG00000020454

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 benign
Transcript: ENSMUST00000110048

SMART Domains

Protein: ENSMUSP00000105675
Gene: ENSMUSG00000020454

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 benign
Transcript: ENSMUST00000110049
AA Change: V521G

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105676
Gene: ENSMUSG00000020454
AA Change: V521G

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 benign
Transcript: ENSMUST00000120721
AA Change: V346G

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112550
Gene: ENSMUSG00000020454
AA Change: V346G

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

probably benign
Transcript: ENSMUST00000135223
AA Change: V120G

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122912
Gene: ENSMUSG00000020454
AA Change: V120G

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179770
AA Change: V521G

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136768
Gene: ENSMUSG00000020454
AA Change: V521G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Crb2	T	A	2: 37,787,684	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,330,337	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dab2	A	C	15: 6,422,251	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,020,452	*123R	probably null	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nme8	A	T	13: 19,694,328	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Palb2	A	T	7: 122,114,399	M524K	possibly damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Patl1	T	A	19: 11,929,954	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Rpap3	A	G	15: 97,679,112	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ube2o	T	C	11: 116,541,860	E760G	probably benign	Het
Uimc1	T	A	13: 55,075,454		probably null	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp90	T	A	8: 106,425,009	C451*	probably null	Het
Zfp945	A	G	17: 22,852,290	C212R	probably damaging	Het

Other mutations in Eif4enif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Eif4enif1	APN	11	3221143	missense	probably damaging	0.96
IGL02237:Eif4enif1	APN	11	3227876	nonsense	probably null
IGL02372:Eif4enif1	APN	11	3229986	missense	probably benign	0.09
PIT4283001:Eif4enif1	UTSW	11	3234464	missense	probably damaging	1.00
R0079:Eif4enif1	UTSW	11	3242676	nonsense	probably null
R1177:Eif4enif1	UTSW	11	3229902	missense	probably damaging	1.00
R1220:Eif4enif1	UTSW	11	3239493	splice site	probably benign
R1511:Eif4enif1	UTSW	11	3236278	missense	probably benign	0.00
R1675:Eif4enif1	UTSW	11	3215686	missense	probably benign	0.02
R1908:Eif4enif1	UTSW	11	3227455	missense	probably damaging	1.00
R1940:Eif4enif1	UTSW	11	3243279	missense	probably damaging	1.00
R2173:Eif4enif1	UTSW	11	3242367	splice site	probably null
R2215:Eif4enif1	UTSW	11	3227476	missense	probably damaging	1.00
R2517:Eif4enif1	UTSW	11	3221168	missense	probably damaging	1.00
R2869:Eif4enif1	UTSW	11	3242586	missense	probably damaging	1.00
R2869:Eif4enif1	UTSW	11	3242586	missense	probably damaging	1.00
R2870:Eif4enif1	UTSW	11	3242586	missense	probably damaging	1.00
R2870:Eif4enif1	UTSW	11	3242586	missense	probably damaging	1.00
R2871:Eif4enif1	UTSW	11	3242586	missense	probably damaging	1.00
R2871:Eif4enif1	UTSW	11	3242586	missense	probably damaging	1.00
R2873:Eif4enif1	UTSW	11	3242586	missense	probably damaging	1.00
R3147:Eif4enif1	UTSW	11	3244003	splice site	probably null
R4195:Eif4enif1	UTSW	11	3243186	missense	possibly damaging	0.89
R4196:Eif4enif1	UTSW	11	3243186	missense	possibly damaging	0.89
R4708:Eif4enif1	UTSW	11	3220323	missense	probably damaging	1.00
R4755:Eif4enif1	UTSW	11	3244016	missense	probably damaging	1.00
R5310:Eif4enif1	UTSW	11	3242687	missense	probably damaging	1.00
R5546:Eif4enif1	UTSW	11	3243989	missense	probably damaging	0.99
R5816:Eif4enif1	UTSW	11	3242401	missense	probably benign	0.13
R6018:Eif4enif1	UTSW	11	3242481	missense	probably damaging	0.97
R6036:Eif4enif1	UTSW	11	3239420	missense	probably damaging	1.00
R6036:Eif4enif1	UTSW	11	3239420	missense	probably damaging	1.00
R6267:Eif4enif1	UTSW	11	3227793	missense	probably damaging	1.00
R6514:Eif4enif1	UTSW	11	3240996	missense	probably null	0.01
R6638:Eif4enif1	UTSW	11	3242463	missense	probably damaging	0.96
R7232:Eif4enif1	UTSW	11	3215678	missense	possibly damaging	0.75
R7385:Eif4enif1	UTSW	11	3220269	missense	probably damaging	1.00
R7478:Eif4enif1	UTSW	11	3227709	nonsense	probably null
R7749:Eif4enif1	UTSW	11	3242608	missense	probably damaging	0.99
R8381:Eif4enif1	UTSW	11	3227470	missense	probably damaging	1.00
R9029:Eif4enif1	UTSW	11	3224716	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAACGGTCAACTCCCTTGGG -3'
(R):5'- GCTCTAAGTTAGTGCTACAGATACAG -3'

Sequencing Primer
(F):5'- TGGTCTCCAAGCTATAAAGT -3'
(R):5'- TGGTAAACCAGAAACATTAAAAGCC -3'

Posted On

2019-05-13