Mutagenetix > Incidental Mutation

Incidental Mutation 'R4361:Eif4a1'

324923

Institutional Source

Beutler Lab

Gene Symbol

Eif4a1

Ensembl Gene

ENSMUSG00000059796

Gene Name

eukaryotic translation initiation factor 4A1

Synonyms

initiation factor eIF-4A long form, Eif4

MMRRC Submission

041112-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R4361 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

69557762-69563249 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

G to A at 69558290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018905] [ENSMUST00000018918] [ENSMUST00000102589] [ENSMUST00000108654] [ENSMUST00000163666] [ENSMUST00000155200] [ENSMUST00000148242]

AlphaFold

P60843

Predicted Effect

probably benign
Transcript: ENSMUST00000018905

SMART Domains

Protein: ENSMUSP00000018905
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART
low complexity region	141	157	N/A	INTRINSIC
CTNS	167	198	5.56e-7	SMART

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

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: ENSMUST00000123995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142214

Predicted Effect

probably benign
Transcript: ENSMUST00000125389

SMART Domains

Protein: ENSMUSP00000129025
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
CTNS	39	70	1.69e-6	SMART
low complexity region	89	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129224

SMART Domains

Protein: ENSMUSP00000120001
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
CTNS	54	85	1.69e-6	SMART
low complexity region	138	163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154124

Predicted Effect

probably benign
Transcript: ENSMUST00000163666

SMART Domains

Protein: ENSMUSP00000127034
Gene: ENSMUSG00000059796

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155200

SMART Domains

Protein: ENSMUSP00000117715
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148242

SMART Domains

Protein: ENSMUSP00000133074
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART
low complexity region	98	109	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,139,688 (GRCm39)	T538A	probably damaging	Het
4930578I07Rik	T	C	14: 67,175,850 (GRCm39)		noncoding transcript	Het
Aadac	T	A	3: 59,947,182 (GRCm39)	S293R	probably benign	Het
Cc2d1b	G	A	4: 108,481,947 (GRCm39)		probably benign	Het
Ccdc157	C	T	11: 4,096,550 (GRCm39)	A400T	probably damaging	Het
Cdc42ep5	A	G	7: 4,154,779 (GRCm39)	V3A	possibly damaging	Het
Cyp11b1	T	A	15: 74,710,865 (GRCm39)	M232L	possibly damaging	Het
Dhrs2	G	A	14: 55,478,646 (GRCm39)	D264N	probably damaging	Het
Dram2	T	C	3: 106,473,531 (GRCm39)		probably benign	Het
Dtx4	C	A	19: 12,462,660 (GRCm39)	S373I	probably benign	Het
Eps15	T	C	4: 109,237,228 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,362,676 (GRCm39)	Q235L	probably damaging	Het
Fgfr3	T	C	5: 33,880,676 (GRCm39)		probably benign	Het
Gabra4	C	T	5: 71,790,888 (GRCm39)		probably null	Het
Gins1	A	G	2: 150,767,821 (GRCm39)	Y117C	probably damaging	Het
Gm12253	T	A	11: 58,325,687 (GRCm39)	S53T	probably benign	Het
Gne	C	A	4: 44,059,947 (GRCm39)	A149S	possibly damaging	Het
Gpc2	A	T	5: 138,276,552 (GRCm39)	C191*	probably null	Het
Has2	G	T	15: 56,545,344 (GRCm39)	A86E	probably damaging	Het
Ift80	A	T	3: 68,870,982 (GRCm39)	S205T	probably damaging	Het
Irx5	G	T	8: 93,085,025 (GRCm39)	A72S	probably damaging	Het
Kcnmb4	A	T	10: 116,309,410 (GRCm39)	V6E	probably benign	Het
Kcnt1	A	T	2: 25,768,044 (GRCm39)	Q51L	probably benign	Het
Klk1b11	A	G	7: 43,645,378 (GRCm39)		probably null	Het
Kmt2d	T	G	15: 98,761,551 (GRCm39)	M600L	unknown	Het
Lmtk2	T	A	5: 144,084,482 (GRCm39)	S172R	probably damaging	Het
Lrrc37	CTTTT	CTTTTT	11: 103,508,327 (GRCm39)		probably null	Het
Lrrc46	G	A	11: 96,925,496 (GRCm39)		probably benign	Het
Mab21l2	C	T	3: 86,454,497 (GRCm39)	V168M	probably damaging	Het
Magea3	A	C	X: 153,731,850 (GRCm39)	C218G	possibly damaging	Het
Magea3	C	A	X: 153,731,849 (GRCm39)	C218F	probably benign	Het
Man1a2	T	C	3: 100,563,358 (GRCm39)	K96E	probably benign	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Myf6	GGGGGCAG	GG	10: 107,330,293 (GRCm39)		probably benign	Het
Myom2	G	A	8: 15,162,018 (GRCm39)	V984I	possibly damaging	Het
Nav1	G	A	1: 135,535,175 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,688,847 (GRCm39)	K477E	probably damaging	Het
Nup98	T	A	7: 101,794,921 (GRCm39)	H862L	probably damaging	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pcnx2	G	T	8: 126,495,037 (GRCm39)	S1608*	probably null	Het
Pramel16	A	G	4: 143,677,433 (GRCm39)	F49L	possibly damaging	Het
Ren1	A	G	1: 133,286,779 (GRCm39)	I303V	probably benign	Het
Retreg3	T	A	11: 100,994,713 (GRCm39)		probably null	Het
Rnf6	C	A	5: 146,148,089 (GRCm39)	V310F	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scrn2	C	T	11: 96,923,064 (GRCm39)	A169V	probably null	Het
Slc4a10	T	C	2: 62,073,729 (GRCm39)	S264P	probably benign	Het
Tex26	A	T	5: 149,384,388 (GRCm39)	Q102L	probably benign	Het
Tex38	A	G	4: 115,637,420 (GRCm39)	S128P	probably benign	Het
Trmt1l	A	G	1: 151,311,626 (GRCm39)		probably benign	Het
Tyr	G	T	7: 87,078,284 (GRCm39)	H525Q	probably benign	Het
Veph1	T	C	3: 66,066,737 (GRCm39)	N417S	probably benign	Het
Zfp597	A	T	16: 3,683,764 (GRCm39)	S331T	probably damaging	Het

Other mutations in Eif4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Eif4a1	APN	11	69,559,922 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GGGTGTCTAAAATGTTCACGGTTC -3'
(R):5'- CCCCTATGCTGAAACCCAAGTG -3'

Sequencing Primer
(F):5'- AAAATGTTCACGGTTCCTTCTTTTTG -3'
(R):5'- TATGCTGAAACCCAAGTGTTCCATC -3'

Posted On

2015-07-06