Mutagenetix > Incidental Mutation

Incidental Mutation 'R9062:Eif6'

689019

Institutional Source

Beutler Lab

Gene Symbol

Eif6

Ensembl Gene

ENSMUSG00000027613

Gene Name

eukaryotic translation initiation factor 6

Synonyms

p27BBP, eIF6, imc-415, Itgb4bp

MMRRC Submission

068888-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155661757-155668845 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155665928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 76 (T76A)

Ref Sequence

ENSEMBL: ENSMUSP00000029142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029142] [ENSMUST00000029143] [ENSMUST00000109638] [ENSMUST00000124586] [ENSMUST00000129830] [ENSMUST00000134278] [ENSMUST00000154841]

AlphaFold

O55135

Predicted Effect

probably benign
Transcript: ENSMUST00000029142
AA Change: T76A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029142
Gene: ENSMUSG00000027613
AA Change: T76A

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

SMART Domains

Protein: ENSMUSP00000105266
Gene: ENSMUSG00000027613

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124586

SMART Domains

Protein: ENSMUSP00000145349
Gene: ENSMUSG00000074649

Domain	Start	End	E-Value	Type
low complexity region	7	37	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129830

SMART Domains

Protein: ENSMUSP00000120206
Gene: ENSMUSG00000027613

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134278
AA Change: T15A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000123190
Gene: ENSMUSG00000027613
AA Change: T15A

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

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambra1	A	G	2: 91,740,662 (GRCm39)	E1047G	possibly damaging	Het
Ankfn1	T	G	11: 89,325,583 (GRCm39)	I530L	probably benign	Het
Apob	A	T	12: 8,058,046 (GRCm39)	Y2176F	possibly damaging	Het
Atp5f1a	C	T	18: 77,866,459 (GRCm39)	R171*	probably null	Het
Atxn10	T	C	15: 85,275,918 (GRCm39)	V325A	probably benign	Het
B3galt1	T	C	2: 67,948,890 (GRCm39)	Y202H		Het
Calhm1	A	T	19: 47,129,828 (GRCm39)	D231E	possibly damaging	Het
Cel	C	A	2: 28,451,214 (GRCm39)	V48F	probably benign	Het
Cep78	T	A	19: 15,956,318 (GRCm39)	Y207F	probably benign	Het
Cnst	T	C	1: 179,434,100 (GRCm39)		probably null	Het
Cpeb2	C	A	5: 43,391,171 (GRCm39)	N122K		Het
Cyth1	T	C	11: 118,023,142 (GRCm39)	Q432R	unknown	Het
Eif2ak1	T	C	5: 143,803,548 (GRCm39)		probably benign	Het
Etfrf1	A	T	6: 145,161,153 (GRCm39)	N41I	probably damaging	Het
Etl4	T	G	2: 20,748,616 (GRCm39)	L318R	probably damaging	Het
Fam151a	G	T	4: 106,605,306 (GRCm39)	W556L	probably benign	Het
Gas2l1	A	G	11: 5,011,497 (GRCm39)	V444A	probably benign	Het
Gbp8	A	G	5: 105,179,124 (GRCm39)	I125T	possibly damaging	Het
Jrkl	A	G	9: 13,245,338 (GRCm39)	F108L	probably benign	Het
Kif13a	G	T	13: 46,941,536 (GRCm39)	D980E	possibly damaging	Het
Leng9	C	T	7: 4,151,666 (GRCm39)	A337T	probably damaging	Het
Lipo3	A	C	19: 33,757,714 (GRCm39)	C252G	probably damaging	Het
Lrp4	C	A	2: 91,303,925 (GRCm39)	D113E	possibly damaging	Het
Mapk8ip1	T	C	2: 92,217,527 (GRCm39)	Y265C	probably damaging	Het
Mios	A	T	6: 8,233,221 (GRCm39)	I790F	probably benign	Het
Mlf2	G	A	6: 124,911,334 (GRCm39)		silent	Het
Mycbp2	T	A	14: 103,479,796 (GRCm39)	Y1226F	probably benign	Het
Ncoa6	T	A	2: 155,263,348 (GRCm39)	Q362L	probably benign	Het
Notch3	T	C	17: 32,341,692 (GRCm39)	D2020G	possibly damaging	Het
Or4a73	T	C	2: 89,420,923 (GRCm39)	M179V	probably benign	Het
Or4c111	T	A	2: 88,843,548 (GRCm39)	T287S	probably damaging	Het
Or52z1	T	A	7: 103,437,155 (GRCm39)	I110L	probably benign	Het
Or8d1b	A	T	9: 38,887,421 (GRCm39)	I150F	probably benign	Het
Otop2	C	A	11: 115,214,465 (GRCm39)	A74E	probably benign	Het
Pgm1	T	C	4: 99,843,954 (GRCm39)	I579T	probably damaging	Het
Preb	A	G	5: 31,116,196 (GRCm39)	V137A	probably benign	Het
Psap	G	T	10: 60,131,738 (GRCm39)	V244L	possibly damaging	Het
Setbp1	A	G	18: 78,900,266 (GRCm39)	S1134P	probably benign	Het
Skp2	G	T	15: 9,113,821 (GRCm39)	P399Q	probably damaging	Het
Slc47a1	T	G	11: 61,253,924 (GRCm39)	I222L	probably benign	Het
Spata31h1	A	G	10: 82,126,945 (GRCm39)	W2022R	probably benign	Het
Spef2	A	G	15: 9,601,717 (GRCm39)	L1515S	unknown	Het
Sri	T	C	5: 8,106,625 (GRCm39)	Y13H	unknown	Het
Tcf25	T	C	8: 124,116,448 (GRCm39)	F248L		Het
Tdrd12	T	C	7: 35,179,694 (GRCm39)	T885A	unknown	Het
Ttn	T	C	2: 76,600,944 (GRCm39)	T18813A	probably damaging	Het
Usp42	A	G	5: 143,703,740 (GRCm39)	V441A	possibly damaging	Het
Vwa1	A	T	4: 155,854,820 (GRCm39)	S405T	probably benign	Het
Zbbx	A	T	3: 74,989,124 (GRCm39)	H326Q	possibly damaging	Het
Zfp64	T	C	2: 168,767,747 (GRCm39)	T622A	probably benign	Het
Zfp677	T	G	17: 21,612,815 (GRCm39)		probably null	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
IGL01490:Eif6	APN	2	155,668,102 (GRCm39)	missense	probably benign	0.05
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
R9177:Eif6	UTSW	2	155,665,852 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGTGATAACTGCCAACCAC -3'
(R):5'- TTAGGCGACCATGGTTCATATATG -3'

Sequencing Primer
(F):5'- AGGCTAGTCCTGTAACTTCCAGAC -3'
(R):5'- CGACCATGGTTCATATATGGATCTG -3'

Posted On

2021-11-19