Mutagenetix > Incidental Mutation

Incidental Mutation 'R6366:Eif4a1'

512701

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

044516-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R6366 (G1)

Quality Score

182.009

Status

Not validated

Chromosome

Chromosomal Location

69557762-69563249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 69561781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 15 (D15E)

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

silent
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: ENSMUST00000142206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142214

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

noncoding transcript
Transcript: ENSMUST00000123995

Predicted Effect

probably benign
Transcript: ENSMUST00000163666
AA Change: D15E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127034
Gene: ENSMUSG00000059796
AA Change: D15E

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: ENSMUST00000145289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158917

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.0%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,584,766 (GRCm39)	F185L	probably damaging	Het
Ank3	A	G	10: 69,835,188 (GRCm39)	D131G	probably damaging	Het
Boc	T	C	16: 44,308,015 (GRCm39)	K947E	probably benign	Het
Ccdc110	A	G	8: 46,396,425 (GRCm39)	E772G	probably damaging	Het
Ccdc7a	A	G	8: 129,582,473 (GRCm39)	V1055A	unknown	Het
Chd1l	A	G	3: 97,501,476 (GRCm39)	V190A	probably benign	Het
Chl1	C	A	6: 103,706,197 (GRCm39)	N396K	possibly damaging	Het
CN725425	T	G	15: 91,131,124 (GRCm39)	Y420D	possibly damaging	Het
Col6a1	A	T	10: 76,546,804 (GRCm39)	I806N	unknown	Het
Csmd2	A	G	4: 128,377,245 (GRCm39)	K2042E	probably benign	Het
Etfb	T	C	7: 43,102,365 (GRCm39)	L119S	probably damaging	Het
Fbxo42	T	A	4: 140,927,260 (GRCm39)	S513R	probably benign	Het
Gys2	C	A	6: 142,409,120 (GRCm39)	C45F	probably benign	Het
Hspa1a	G	A	17: 35,189,500 (GRCm39)	P468S	probably damaging	Het
Kdm2a	G	T	19: 4,374,960 (GRCm39)	Q724K	probably benign	Het
Lama3	G	T	18: 12,615,194 (GRCm39)	G1373W	probably damaging	Het
Lhx1	A	T	11: 84,413,034 (GRCm39)	F84Y	probably damaging	Het
Lpxn	G	A	19: 12,802,163 (GRCm39)	V163M	probably benign	Het
Lrrc7	T	C	3: 157,841,012 (GRCm39)	Q1389R	probably benign	Het
Lrtm2	T	C	6: 119,294,238 (GRCm39)	R298G	probably damaging	Het
Ltv1	A	G	10: 13,056,739 (GRCm39)	V268A	probably benign	Het
Mgat4d	T	A	8: 84,095,580 (GRCm39)		probably null	Het
Mknk2	C	A	10: 80,507,767 (GRCm39)	R33L	probably damaging	Het
Ms4a1	A	G	19: 11,236,062 (GRCm39)	S42P	probably damaging	Het
Muc16	T	C	9: 18,557,340 (GRCm39)	I2984M	unknown	Het
Mup12	A	C	4: 60,696,657 (GRCm39)	F74V	probably damaging	Het
Nacad	A	C	11: 6,551,196 (GRCm39)	L665R	probably benign	Het
Pde6a	T	A	18: 61,398,142 (GRCm39)		probably null	Het
Plb1	A	G	5: 32,471,429 (GRCm39)	N579D	possibly damaging	Het
Podn	T	A	4: 107,876,001 (GRCm39)	I552F	possibly damaging	Het
Potefam1	A	G	2: 110,999,937 (GRCm39)		probably null	Het
Pramel32	T	A	4: 88,547,102 (GRCm39)	I106F	probably damaging	Het
Prl3b1	A	T	13: 27,427,875 (GRCm39)	M62L	probably benign	Het
Ptpn13	G	T	5: 103,698,919 (GRCm39)	R1134L	probably damaging	Het
Rpl37	T	A	15: 5,147,990 (GRCm39)		probably null	Het
Samd4	T	A	14: 47,311,607 (GRCm39)		probably null	Het
Sh3rf2	T	C	18: 42,286,130 (GRCm39)	V541A	probably benign	Het
Shcbp1	A	G	8: 4,799,380 (GRCm39)	V335A	probably damaging	Het
Slc7a7	T	C	14: 54,612,057 (GRCm39)	Y282C	probably damaging	Het
Spag7	T	C	11: 70,555,418 (GRCm39)	K125E	possibly damaging	Het
Spata31e4	T	C	13: 50,855,972 (GRCm39)	Y537H	probably benign	Het
Sptan1	T	C	2: 29,910,467 (GRCm39)	S1831P	possibly damaging	Het
Stab1	T	C	14: 30,863,395 (GRCm39)	K2097R	probably benign	Het
Stk38	A	G	17: 29,193,338 (GRCm39)	W364R	probably benign	Het
Tectb	G	A	19: 55,170,350 (GRCm39)	G67D	probably damaging	Het
Ttll9	G	T	2: 152,833,525 (GRCm39)	D208Y	probably damaging	Het
Tyro3	G	A	2: 119,647,156 (GRCm39)	D758N	probably damaging	Het
Tyw1	T	C	5: 130,310,792 (GRCm39)		probably benign	Het
Unc5b	C	T	10: 60,614,091 (GRCm39)	A253T	probably benign	Het
Wtap	A	T	17: 13,186,945 (GRCm39)		probably null	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
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
R7077:Eif4a1	UTSW	11	69,561,490 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AATCTCGTTCCAGTTACTCTGCAG -3'
(R):5'- AGTCCTTTACAGCCGCTTGATC -3'

Sequencing Primer
(F):5'- ACTTAGGCACTTCGAGTAACGTG -3'
(R):5'- CGCTTGATCTTAAAGGAGCGTCAC -3'

Posted On

2018-04-27