Mutagenetix > Incidental Mutation

Incidental Mutation 'R5623:Eif4a2'

441706

Institutional Source

Beutler Lab

Gene Symbol

Eif4a2

Ensembl Gene

ENSMUSG00000022884

Gene Name

eukaryotic translation initiation factor 4A2

Synonyms

4833432N07Rik, Ddx2b, Eif4, BM-010

MMRRC Submission

043162-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.580) question?

Stock #

R5623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22926194-22932886 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 22928969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023598] [ENSMUST00000023599] [ENSMUST00000077605] [ENSMUST00000115338] [ENSMUST00000115341] [ENSMUST00000131871] [ENSMUST00000123413] [ENSMUST00000133847] [ENSMUST00000168891] [ENSMUST00000147117] [ENSMUST00000187168] [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

SMART Domains

Protein: ENSMUSP00000023599
Gene: ENSMUSG00000022884

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

SMART Domains

Protein: ENSMUSP00000090876
Gene: ENSMUSG00000022884

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: ENSMUST00000115341

SMART Domains

Protein: ENSMUSP00000110998
Gene: ENSMUSG00000022884

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: ENSMUST00000130113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142031

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: ENSMUST00000123413

SMART Domains

Protein: ENSMUSP00000115649
Gene: ENSMUSG00000022884

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: ENSMUST00000125553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134816

Predicted Effect

probably benign
Transcript: ENSMUST00000133847

SMART Domains

Protein: ENSMUSP00000115479
Gene: ENSMUSG00000022881

Domain	Start	End	E-Value	Type
Pfam:Rad17	32	97	3.7e-9	PFAM
Pfam:AAA	74	98	2.4e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156227

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

noncoding transcript
Transcript: ENSMUST00000152129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148085

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: ENSMUST00000187168

SMART Domains

Protein: ENSMUSP00000140809
Gene: ENSMUSG00000022884

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: ENSMUST00000149328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144493

Predicted Effect

probably benign
Transcript: ENSMUST00000232287

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b1	T	G	18: 64,679,165 (GRCm39)	Q772P	possibly damaging	Het
B3gnt2	C	G	11: 22,787,018 (GRCm39)	A57P	probably damaging	Het
Birc6	T	G	17: 74,835,651 (GRCm39)	D63E	probably damaging	Het
Ccdc13	T	C	9: 121,662,799 (GRCm39)	E72G	probably damaging	Het
Cfap221	C	T	1: 119,881,898 (GRCm39)	A297T	probably benign	Het
Chd1	T	A	17: 15,975,194 (GRCm39)	N1081K	probably damaging	Het
Chrm3	C	A	13: 9,927,423 (GRCm39)	V538L	possibly damaging	Het
Clec16a	T	A	16: 10,428,985 (GRCm39)	N37K	probably benign	Het
Cnksr3	T	A	10: 7,070,548 (GRCm39)	I229F	probably damaging	Het
Cspg4b	T	C	13: 113,483,168 (GRCm39)	I1590T	possibly damaging	Het
Dchs1	T	C	7: 105,421,976 (GRCm39)	E148G	probably damaging	Het
Diaph1	A	T	18: 38,029,146 (GRCm39)		probably benign	Het
Dis3l	A	G	9: 64,214,885 (GRCm39)	F895L	possibly damaging	Het
Dnah1	G	T	14: 31,007,980 (GRCm39)	D2142E	possibly damaging	Het
Dst	T	C	1: 34,229,214 (GRCm39)	V1944A	possibly damaging	Het
Ephb6	T	A	6: 41,593,415 (GRCm39)	M487K	probably benign	Het
Fgf18	T	G	11: 33,084,272 (GRCm39)	T61P	probably damaging	Het
G6pc2	A	G	2: 69,056,927 (GRCm39)	E191G	probably damaging	Het
Gm10717	C	T	9: 3,026,318 (GRCm39)	S55L	probably benign	Het
Gm5414	A	G	15: 101,534,246 (GRCm39)	F286S	probably damaging	Het
Gpcpd1	G	T	2: 132,376,637 (GRCm39)	A553E	probably damaging	Het
Gpr153	A	G	4: 152,366,398 (GRCm39)	D321G	possibly damaging	Het
Hecw2	T	A	1: 53,871,782 (GRCm39)	Q1388L	probably null	Het
Ighv14-3	A	C	12: 114,023,710 (GRCm39)	S36A	probably damaging	Het
Inpp5j	C	A	11: 3,444,766 (GRCm39)	G969V	probably damaging	Het
Kat5	G	A	19: 5,657,590 (GRCm39)	R307W	probably damaging	Het
Klk1b21	A	G	7: 43,754,989 (GRCm39)	S95G	probably damaging	Het
Mdm1	G	A	10: 117,986,694 (GRCm39)	V171I	possibly damaging	Het
Nfu1	TCGC	T	6: 86,993,188 (GRCm39)		probably benign	Het
Or5k8	C	T	16: 58,644,706 (GRCm39)	R122H	probably benign	Het
Or6c206	G	A	10: 129,096,901 (GRCm39)	V24M	probably benign	Het
Phkb	T	A	8: 86,569,677 (GRCm39)		probably benign	Het
Pkd1l3	A	T	8: 110,350,351 (GRCm39)	T399S	possibly damaging	Het
Prr14l	A	T	5: 33,001,852 (GRCm39)		probably benign	Het
Psg21	A	C	7: 18,388,939 (GRCm39)	L51R	probably damaging	Het
Ptprg	T	A	14: 12,153,857 (GRCm38)	I526N	probably damaging	Het
Rab1a	T	C	11: 20,151,626 (GRCm39)		probably benign	Het
Rims2	A	T	15: 39,342,011 (GRCm39)	Q620L	probably damaging	Het
Rnf215	T	G	11: 4,085,453 (GRCm39)	S58A	probably benign	Het
Scaper	A	C	9: 55,771,791 (GRCm39)	V375G	probably benign	Het
Sgk3	A	T	1: 9,872,520 (GRCm39)		probably benign	Het
Skic2	T	C	17: 35,066,408 (GRCm39)	K192E	probably benign	Het
Slc34a3	T	A	2: 25,123,312 (GRCm39)		probably null	Het
Sspn	T	A	6: 145,906,952 (GRCm39)	C52S	probably damaging	Het
Strip1	T	C	3: 107,534,142 (GRCm39)	E164G	possibly damaging	Het
Sult5a1	A	C	8: 123,884,181 (GRCm39)	S47A	probably damaging	Het
Svep1	T	C	4: 58,091,964 (GRCm39)	D1557G	possibly damaging	Het
Tdrd6	T	C	17: 43,940,224 (GRCm39)	I275V	probably damaging	Het
Thada	C	T	17: 84,499,411 (GRCm39)	V1929I	probably benign	Het
Tmem132b	G	A	5: 125,700,416 (GRCm39)	R318Q	probably damaging	Het
Tmem176b	T	G	6: 48,811,004 (GRCm39)	I259L	probably benign	Het
Tmppe	C	A	9: 114,234,964 (GRCm39)	P421Q	possibly damaging	Het
Tmprss11e	G	A	5: 86,857,315 (GRCm39)	Q333*	probably null	Het
Tpcn2	T	A	7: 144,821,071 (GRCm39)	R328W	possibly damaging	Het
Trem1	C	T	17: 48,544,083 (GRCm39)	T36I	probably damaging	Het
Trpm2	C	A	10: 77,767,973 (GRCm39)	R842L	probably damaging	Het
Zfp319	A	G	8: 96,052,199 (GRCm39)		probably benign	Het

Other mutations in Eif4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Eif4a2	APN	16	22,927,941 (GRCm39)	missense	probably benign	0.05
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
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

Predicted Primers

PCR Primer
(F):5'- ATGGGAGCAACTTGTCATGC -3'
(R):5'- GGGAACGACAATAGAACACTTC -3'

Sequencing Primer
(F):5'- CATGCTTGCATTGGAGGAAC -3'
(R):5'- TTGTAACTGTACCTGCATGAAACC -3'

Posted On

2016-11-08