Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01490:Eif6'

88818

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif6

Ensembl Gene

ENSMUSG00000027613

Gene Name

eukaryotic translation initiation factor 6

Synonyms

p27BBP, eIF6, imc-415, Itgb4bp

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01490

Quality Score

Status

Chromosome

Chromosomal Location

155661757-155668845 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155668102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 46 (I46V)

Ref Sequence

ENSEMBL: ENSMUSP00000120206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029142] [ENSMUST00000029143] [ENSMUST00000109638] [ENSMUST00000129830] [ENSMUST00000134278] [ENSMUST00000154841]

AlphaFold

O55135

Predicted Effect

probably benign
Transcript: ENSMUST00000029142
AA Change: I46V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029142
Gene: ENSMUSG00000027613
AA Change: I46V

Domain	Start	End	E-Value	Type
eIF6	3	204	2.72e-136	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000029143

SMART Domains

Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647

Domain	Start	End	E-Value	Type
Pfam:DUF1669	61	337	3.1e-107	PFAM
low complexity region	347	357	N/A	INTRINSIC
low complexity region	368	385	N/A	INTRINSIC
low complexity region	398	411	N/A	INTRINSIC
low complexity region	474	484	N/A	INTRINSIC
low complexity region	570	589	N/A	INTRINSIC
low complexity region	672	685	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109638
AA Change: I46V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105266
Gene: ENSMUSG00000027613
AA Change: I46V

Domain	Start	End	E-Value	Type
Pfam:eIF-6	3	70	1.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129830
AA Change: I46V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120206
Gene: ENSMUSG00000027613
AA Change: I46V

Domain	Start	End	E-Value	Type
eIF6	3	68	4.5e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134278

SMART Domains

Protein: ENSMUSP00000123190
Gene: ENSMUSG00000027613

Domain	Start	End	E-Value	Type
Pfam:eIF-6	1	58	5.1e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141926

Predicted Effect

probably benign
Transcript: ENSMUST00000154841

SMART Domains

Protein: ENSMUSP00000115715
Gene: ENSMUSG00000027613

Domain	Start	End	E-Value	Type
Pfam:eIF-6	3	45	7.8e-10	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a eukaryotic translation initiation factor that regulates both ribosome biogenesis and translation, which are rate-limiting factors for cell growth. The encoded protein binds 60S ribosomes and prevents their association with 40S ribosomes. This gene may play a role in oncogenesis as well. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to E3.5 and mice heterozygous for the allele exhibit reduced body, liver and adipose tissue weights associated with a reduced translation rate and delayed G1/S phase transition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,336,023 (GRCm39)	Y2131C	probably damaging	Het
Ano6	T	A	15: 95,846,291 (GRCm39)	S510T	probably benign	Het
Asb16	A	T	11: 102,167,575 (GRCm39)	N314Y	probably damaging	Het
Atp6v0b	G	A	4: 117,742,303 (GRCm39)	Q150*	probably null	Het
Chct1	A	G	11: 85,069,138 (GRCm39)	D52G	probably damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cmklr2	T	C	1: 63,222,455 (GRCm39)	Y260C	probably damaging	Het
Crim1	A	G	17: 78,642,725 (GRCm39)	D481G	possibly damaging	Het
Dnajb2	T	C	1: 75,213,534 (GRCm39)	S3P	probably damaging	Het
Dnajb9	A	T	12: 44,253,869 (GRCm39)	S179R	possibly damaging	Het
Dock2	A	T	11: 34,596,608 (GRCm39)	I416N	probably damaging	Het
Dock7	G	T	4: 98,833,355 (GRCm39)		probably benign	Het
Fcgr1	T	C	3: 96,191,686 (GRCm39)	D374G	probably benign	Het
Gatad2b	A	G	3: 90,259,385 (GRCm39)	I374V	possibly damaging	Het
Gfpt2	T	C	11: 49,717,954 (GRCm39)		probably benign	Het
H2-M10.2	G	T	17: 36,596,377 (GRCm39)	T156K	probably damaging	Het
Il20rb	T	A	9: 100,355,207 (GRCm39)	I79F	probably damaging	Het
Kcnip3	C	T	2: 127,352,799 (GRCm39)	R44H	probably benign	Het
Lama1	A	T	17: 68,057,579 (GRCm39)	D551V	possibly damaging	Het
Mex3b	C	A	7: 82,519,035 (GRCm39)	P450Q	possibly damaging	Het
Mmp20	T	C	9: 7,628,330 (GRCm39)	L26P	probably benign	Het
Msh3	G	A	13: 92,436,813 (GRCm39)	T499M	probably damaging	Het
Myo18b	T	C	5: 112,957,566 (GRCm39)	S1466G	possibly damaging	Het
Myom3	A	G	4: 135,538,089 (GRCm39)	R1324G	possibly damaging	Het
Nxph3	A	G	11: 95,401,919 (GRCm39)	I165T	possibly damaging	Het
Prex2	G	A	1: 11,254,769 (GRCm39)		probably null	Het
Ptpn6	T	A	6: 124,705,307 (GRCm39)	E208V	probably damaging	Het
Qpct	T	C	17: 79,397,169 (GRCm39)	V354A	probably benign	Het
Rfx4	A	G	10: 84,676,715 (GRCm39)	I108V	possibly damaging	Het
Tmem67	A	G	4: 12,057,422 (GRCm39)		probably benign	Het
Trappc12	A	T	12: 28,796,914 (GRCm39)	I206N	probably damaging	Het
Vmn1r173	A	T	7: 23,402,132 (GRCm39)	K122N	probably benign	Het
Wdr35	G	T	12: 9,027,381 (GRCm39)	G54V	probably damaging	Het
Zfyve26	A	T	12: 79,291,147 (GRCm39)	C2153S	probably damaging	Het

Other mutations in Eif6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01145:Eif6	APN	2	155,668,355 (GRCm39)	utr 5 prime	probably benign
IGL02366:Eif6	APN	2	155,668,092 (GRCm39)	missense	probably benign	0.05
IGL02796:Eif6	UTSW	2	155,668,068 (GRCm39)	missense	probably damaging	1.00
R2151:Eif6	UTSW	2	155,664,810 (GRCm39)	missense	probably benign	0.01
R3776:Eif6	UTSW	2	155,668,296 (GRCm39)	missense	possibly damaging	0.85
R4659:Eif6	UTSW	2	155,668,101 (GRCm39)	missense	probably damaging	0.98
R6808:Eif6	UTSW	2	155,665,206 (GRCm39)	missense	probably damaging	1.00
R7733:Eif6	UTSW	2	155,665,152 (GRCm39)	missense	probably benign	0.13
R8546:Eif6	UTSW	2	155,668,420 (GRCm39)	unclassified	probably benign
R8680:Eif6	UTSW	2	155,664,772 (GRCm39)	missense	probably benign	0.15
R8798:Eif6	UTSW	2	155,664,886 (GRCm39)	missense	probably damaging	1.00
R9062:Eif6	UTSW	2	155,665,928 (GRCm39)	missense	probably benign	0.03
R9177:Eif6	UTSW	2	155,665,852 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-18