Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00776:Eif4a1'

10464

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif4a1

Ensembl Gene

ENSMUSG00000059796

Gene Name

eukaryotic translation initiation factor 4A1

Synonyms

initiation factor eIF-4A long form, Eif4

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL00776

Quality Score

Status

Chromosome

Chromosomal Location

69557762-69563249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69559922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 166 (L166F)

Ref Sequence

ENSEMBL: ENSMUSP00000127034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005336] [ENSMUST00000018918] [ENSMUST00000066760] [ENSMUST00000102589] [ENSMUST00000108654] [ENSMUST00000163666]

AlphaFold

P60843

Predicted Effect

probably benign
Transcript: ENSMUST00000005336

SMART Domains

Protein: ENSMUSP00000005336
Gene: ENSMUSG00000005204

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
low complexity region	42	53	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
low complexity region	183	195	N/A	INTRINSIC
Pfam:Peptidase_C48	394	566	4.9e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000018918

SMART Domains

Protein: ENSMUSP00000018918
Gene: ENSMUSG00000018774

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Lamp	28	326	5.6e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066760

SMART Domains

Protein: ENSMUSP00000066581
Gene: ENSMUSG00000005204

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
low complexity region	42	53	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
low complexity region	183	195	N/A	INTRINSIC
Pfam:Peptidase_C48	394	566	4.9e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083928

Predicted Effect

probably benign
Transcript: ENSMUST00000102589

Predicted Effect

probably benign
Transcript: ENSMUST00000108654

SMART Domains

Protein: ENSMUSP00000104294
Gene: ENSMUSG00000018774

Domain	Start	End	E-Value	Type
Pfam:Lamp	16	335	3.1e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123995

Predicted Effect

probably benign
Transcript: ENSMUST00000134942

SMART Domains

Protein: ENSMUSP00000114791
Gene: ENSMUSG00000005204

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C48	5	167	4.1e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163666
AA Change: L166F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127034
Gene: ENSMUSG00000059796
AA Change: L166F

Domain	Start	End	E-Value	Type
DEXDc	51	249	3.61e-60	SMART
HELICc	286	367	1.04e-33	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158917

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	T	2: 19,545,182 (GRCm39)	D90E	probably benign	Het
Abcb5	T	C	12: 118,883,589 (GRCm39)	S560G	probably damaging	Het
Ankrd24	A	C	10: 81,478,979 (GRCm39)		probably benign	Het
Atp8a1	A	T	5: 67,906,486 (GRCm39)	I461N	probably benign	Het
Herc1	T	A	9: 66,328,320 (GRCm39)	H1542Q	probably benign	Het
Itih4	G	A	14: 30,611,561 (GRCm39)	V95I	probably benign	Het
Kcnh7	A	G	2: 62,680,720 (GRCm39)	I289T	probably benign	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Mterf1a	A	C	5: 3,941,809 (GRCm39)	W20G	possibly damaging	Het
Slc24a5	T	C	2: 124,922,809 (GRCm39)	S161P	probably damaging	Het
Slc25a21	G	A	12: 56,816,990 (GRCm39)	T99I	probably benign	Het
Smurf1	A	G	5: 144,818,584 (GRCm39)	S619P	probably benign	Het
Sorbs1	C	T	19: 40,332,795 (GRCm39)		probably null	Het
Strn4	C	T	7: 16,564,377 (GRCm39)	R185C	probably damaging	Het
Tctn3	A	G	19: 40,585,865 (GRCm39)	F560S	probably damaging	Het

Other mutations in Eif4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01923:Eif4a1	APN	11	69,563,129 (GRCm39)	missense	possibly damaging	0.81
Tour	UTSW	11	69,561,490 (GRCm39)	missense	probably damaging	0.99
R0709:Eif4a1	UTSW	11	69,561,078 (GRCm39)	missense	probably damaging	1.00
R3407:Eif4a1	UTSW	11	69,561,089 (GRCm39)	missense	probably damaging	1.00
R4361:Eif4a1	UTSW	11	69,558,290 (GRCm39)	utr 3 prime	probably benign
R4398:Eif4a1	UTSW	11	69,560,070 (GRCm39)	missense	possibly damaging	0.62
R4896:Eif4a1	UTSW	11	69,559,423 (GRCm39)	intron	probably benign
R4936:Eif4a1	UTSW	11	69,563,251 (GRCm39)	unclassified	probably benign
R4941:Eif4a1	UTSW	11	69,558,640 (GRCm39)	intron	probably benign
R6366:Eif4a1	UTSW	11	69,561,781 (GRCm39)	missense	probably benign
R7077:Eif4a1	UTSW	11	69,561,490 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-12-06