Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01680:Eif4a2'

103764

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif4a2

Ensembl Gene

ENSMUSG00000022884

Gene Name

eukaryotic translation initiation factor 4A2

Synonyms

4833432N07Rik, Ddx2b, Eif4, BM-010

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.580) question?

Stock #

IGL01680

Quality Score

Status

Chromosome

Chromosomal Location

22926194-22932886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22927941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 94 (Q94K)

Ref Sequence

ENSEMBL: ENSMUSP00000140809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023598] [ENSMUST00000023599] [ENSMUST00000077605] [ENSMUST00000115338] [ENSMUST00000123413] [ENSMUST00000115341] [ENSMUST00000131871] [ENSMUST00000187168] [ENSMUST00000147117] [ENSMUST00000168891] [ENSMUST00000232287]

AlphaFold

P10630

Predicted Effect

probably benign
Transcript: ENSMUST00000023598

SMART Domains

Protein: ENSMUSP00000023598
Gene: ENSMUSG00000022881

Domain	Start	End	E-Value	Type
AAA	70	202	5.8e-13	SMART
Pfam:Rep_fac_C	267	356	2.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023599
AA Change: Q94K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023599
Gene: ENSMUSG00000022884
AA Change: Q94K

Domain	Start	End	E-Value	Type
DEXDc	52	250	4.62e-58	SMART
HELICc	287	368	5.21e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077605
AA Change: Q94K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000090876
Gene: ENSMUSG00000022884
AA Change: Q94K

Domain	Start	End	E-Value	Type
DEXDc	52	250	4.62e-58	SMART
HELICc	287	362	1.86e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083274

Predicted Effect

probably benign
Transcript: ENSMUST00000115338

SMART Domains

Protein: ENSMUSP00000110995
Gene: ENSMUSG00000022881

Domain	Start	End	E-Value	Type
AAA	70	202	5.8e-13	SMART
Pfam:Rep_fac_C	269	344	3.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123413
AA Change: Q94K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000115649
Gene: ENSMUSG00000022884
AA Change: Q94K

Domain	Start	End	E-Value	Type
DEXDc	52	250	4.62e-58	SMART
HELICc	287	362	1.86e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115341
AA Change: Q95K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000110998
Gene: ENSMUSG00000022884
AA Change: Q95K

Domain	Start	End	E-Value	Type
DEXDc	53	251	4.62e-58	SMART
HELICc	288	369	5.21e-34	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144493

Predicted Effect

probably benign
Transcript: ENSMUST00000131871

SMART Domains

Protein: ENSMUSP00000118141
Gene: ENSMUSG00000022884

Domain	Start	End	E-Value	Type
PDB:3EIQ\|D	4	70	2e-33	PDB
Blast:DEXDc	17	73	3e-25	BLAST
SCOP:d1qdea_	25	71	2e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187168
AA Change: Q94K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000140809
Gene: ENSMUSG00000022884
AA Change: Q94K

Domain	Start	End	E-Value	Type
DEXDc	52	250	4.62e-58	SMART
HELICc	287	362	1.86e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156227

Predicted Effect

probably benign
Transcript: ENSMUST00000147117

SMART Domains

Protein: ENSMUSP00000121745
Gene: ENSMUSG00000022884

Domain	Start	End	E-Value	Type
PDB:3EIQ\|D	4	69	4e-33	PDB
Blast:DEXDc	16	72	3e-25	BLAST
SCOP:d1qdea_	24	70	2e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168891

SMART Domains

Protein: ENSMUSP00000127030
Gene: ENSMUSG00000022884

Domain	Start	End	E-Value	Type
DEXDc	1	155	1.92e-14	SMART
HELICc	192	273	5.21e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000232287
AA Change: Q95K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	C	17: 57,709,620 (GRCm39)	W121R	unknown	Het
Adprh	C	T	16: 38,270,578 (GRCm39)	G76S	possibly damaging	Het
Arhgap31	T	C	16: 38,423,976 (GRCm39)	T697A	probably benign	Het
Ces2f	T	C	8: 105,680,705 (GRCm39)	M489T	probably benign	Het
Clec5a	A	G	6: 40,561,314 (GRCm39)	Y44H	probably benign	Het
Csmd3	T	C	15: 47,833,426 (GRCm39)	H950R	probably damaging	Het
Dennd10	A	G	19: 60,805,972 (GRCm39)	T86A	possibly damaging	Het
Dgkz	G	T	2: 91,766,210 (GRCm39)	P784T	probably benign	Het
Dok1	T	C	6: 83,008,293 (GRCm39)	D463G	possibly damaging	Het
Epg5	T	C	18: 78,055,956 (GRCm39)	L1710P	probably damaging	Het
Fign	A	G	2: 63,808,988 (GRCm39)		probably benign	Het
Gbp10	T	C	5: 105,372,137 (GRCm39)		probably null	Het
Gga2	G	T	7: 121,597,299 (GRCm39)	D363E	probably benign	Het
Glis2	T	A	16: 4,429,195 (GRCm39)	F133I	possibly damaging	Het
Isg20	A	G	7: 78,566,333 (GRCm39)	D94G	probably damaging	Het
Kif23	T	C	9: 61,839,096 (GRCm39)	D319G	probably benign	Het
Lbr	C	A	1: 181,663,759 (GRCm39)	R87L	probably damaging	Het
Map3k9	T	C	12: 81,771,513 (GRCm39)	T715A	probably benign	Het
Mapk14	T	C	17: 28,944,820 (GRCm39)		probably null	Het
Mpp4	A	C	1: 59,169,226 (GRCm39)	C341W	probably benign	Het
Mroh9	C	T	1: 162,875,551 (GRCm39)		probably null	Het
Myo16	T	C	8: 10,322,630 (GRCm39)	V20A	probably damaging	Het
Or12e8	T	C	2: 87,188,249 (GRCm39)	S154P	probably damaging	Het
Or52p2	A	T	7: 102,237,436 (GRCm39)	C171*	probably null	Het
Or7c19	A	T	8: 85,957,308 (GRCm39)	L61F	probably benign	Het
Pofut2	C	T	10: 77,099,127 (GRCm39)	R186W	probably damaging	Het
Ppp1r1b	T	A	11: 98,241,392 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,218,218 (GRCm39)	I166V	probably damaging	Het
Slc4a2	A	G	5: 24,637,928 (GRCm39)	T375A	probably benign	Het
Slitrk5	C	A	14: 111,916,432 (GRCm39)	H19N	probably benign	Het
Sptb	T	A	12: 76,677,456 (GRCm39)	Q126L	probably damaging	Het
Stoml1	T	C	9: 58,163,996 (GRCm39)	V105A	probably damaging	Het
Stt3b	C	A	9: 115,075,329 (GRCm39)		probably benign	Het
Thbs4	T	C	13: 92,913,488 (GRCm39)	E144G	probably benign	Het
Tns3	A	G	11: 8,498,937 (GRCm39)	Y49H	probably damaging	Het
Vmn2r87	C	T	10: 130,315,586 (GRCm39)	W160*	probably null	Het
Zfp647	T	A	15: 76,801,968 (GRCm39)		probably benign	Het

Other mutations in Eif4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02426:Eif4a2	APN	16	22,929,399 (GRCm39)	missense	probably benign	0.00
unflappable	UTSW	16	22,929,390 (GRCm39)	frame shift	probably null
R3903:Eif4a2	UTSW	16	22,929,390 (GRCm39)	frame shift	probably null
R4880:Eif4a2	UTSW	16	22,927,650 (GRCm39)	intron	probably benign
R5623:Eif4a2	UTSW	16	22,928,969 (GRCm39)	splice site	probably benign
R7350:Eif4a2	UTSW	16	22,932,012 (GRCm39)	missense	possibly damaging	0.95
R7574:Eif4a2	UTSW	16	22,928,877 (GRCm39)	missense	probably benign	0.45
R8290:Eif4a2	UTSW	16	22,927,372 (GRCm39)	missense	probably damaging	1.00
R9072:Eif4a2	UTSW	16	22,929,403 (GRCm39)	missense	probably benign	0.00
R9073:Eif4a2	UTSW	16	22,929,403 (GRCm39)	missense	probably benign	0.00
RF006:Eif4a2	UTSW	16	22,929,028 (GRCm39)	missense	possibly damaging	0.93

Posted On

2014-01-21