Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01896:Eif4b'

179404

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif4b

Ensembl Gene

ENSMUSG00000058655

Gene Name

eukaryotic translation initiation factor 4B

Synonyms

2310046H11Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL01896

Quality Score

Status

Chromosome

Chromosomal Location

101982208-102005608 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102003721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 597 (S597P)

Ref Sequence

ENSEMBL: ENSMUSP00000127774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169681] [ENSMUST00000229400]

AlphaFold

Q8BGD9

Predicted Effect

probably benign
Transcript: ENSMUST00000169681
AA Change: S597P

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127774
Gene: ENSMUSG00000058655
AA Change: S597P

Domain	Start	End	E-Value	Type
low complexity region	6	13	N/A	INTRINSIC
RRM	97	169	1.54e-15	SMART
low complexity region	221	273	N/A	INTRINSIC
low complexity region	282	327	N/A	INTRINSIC
low complexity region	347	359	N/A	INTRINSIC
low complexity region	372	391	N/A	INTRINSIC
low complexity region	408	428	N/A	INTRINSIC
low complexity region	574	581	N/A	INTRINSIC
low complexity region	584	597	N/A	INTRINSIC
low complexity region	599	608	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229254

Predicted Effect

probably benign
Transcript: ENSMUST00000229400

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
9330159F19Rik	T	A	10: 29,101,154 (GRCm39)	F509Y	possibly damaging	Het
Acot11	T	A	4: 106,628,564 (GRCm39)	I75F	probably damaging	Het
Atp1a2	T	A	1: 172,113,578 (GRCm39)	N427Y	probably damaging	Het
Cd19	T	C	7: 126,013,522 (GRCm39)	D89G	possibly damaging	Het
Clca3a1	T	A	3: 144,721,438 (GRCm39)	T378S	possibly damaging	Het
Cltc	A	T	11: 86,615,959 (GRCm39)	C436S	probably damaging	Het
Def8	G	A	8: 124,186,634 (GRCm39)	V429M	probably benign	Het
Dnah9	A	T	11: 66,021,492 (GRCm39)	D311E	possibly damaging	Het
Dpy19l4	T	C	4: 11,267,752 (GRCm39)	K396R	possibly damaging	Het
Ezh1	A	T	11: 101,104,581 (GRCm39)	N155K	probably benign	Het
Glud1	A	G	14: 34,041,862 (GRCm39)	S157G	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5600	T	C	7: 113,307,221 (GRCm39)		noncoding transcript	Het
Hnf4g	T	A	3: 3,716,470 (GRCm39)	V298E	probably damaging	Het
Hspd1	C	T	1: 55,118,268 (GRCm39)	R446Q	probably benign	Het
Lyst	A	G	13: 13,810,162 (GRCm39)	I611V	probably benign	Het
Map4k3	T	C	17: 80,921,360 (GRCm39)	E524G	probably benign	Het
Mepe	A	G	5: 104,486,135 (GRCm39)	D425G	possibly damaging	Het
Myo1a	G	T	10: 127,555,773 (GRCm39)	V921L	probably benign	Het
Plxdc1	A	T	11: 97,815,408 (GRCm39)	M470K	probably damaging	Het
Prim1	A	G	10: 127,858,758 (GRCm39)	Y222C	probably damaging	Het
Ptpn13	A	G	5: 103,649,389 (GRCm39)	N264S	possibly damaging	Het
Qrsl1	T	C	10: 43,752,500 (GRCm39)	D441G	probably benign	Het
Samd9l	G	T	6: 3,375,120 (GRCm39)	Q714K	probably benign	Het
Scrib	T	C	15: 75,937,967 (GRCm39)	E293G	possibly damaging	Het
Slc12a2	T	A	18: 58,029,380 (GRCm39)	N255K	probably benign	Het
Slc6a6	T	C	6: 91,703,050 (GRCm39)	I141T	probably damaging	Het
Slc9a1	T	C	4: 133,145,370 (GRCm39)	L485P	probably damaging	Het
Slfn8	A	T	11: 82,894,522 (GRCm39)	Y706N	probably damaging	Het
Tlr5	T	C	1: 182,802,444 (GRCm39)	F583L	possibly damaging	Het
Tmprss15	A	G	16: 78,887,678 (GRCm39)	V43A	probably benign	Het
Ttc24	T	C	3: 87,977,720 (GRCm39)		probably null	Het
Ttc7	A	G	17: 87,666,552 (GRCm39)	T606A	probably damaging	Het
Ubap2	G	T	4: 41,202,362 (GRCm39)	P689T	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wfdc8	A	T	2: 164,447,700 (GRCm39)	M120K	probably damaging	Het

Other mutations in Eif4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Eif4b	APN	15	101,999,858 (GRCm39)	missense	probably benign	0.23
IGL03348:Eif4b	APN	15	102,001,466 (GRCm39)	unclassified	probably benign
R1577:Eif4b	UTSW	15	101,998,336 (GRCm39)	nonsense	probably null
R1727:Eif4b	UTSW	15	101,998,497 (GRCm39)	missense	possibly damaging	0.71
R1931:Eif4b	UTSW	15	101,997,411 (GRCm39)	missense	unknown
R3927:Eif4b	UTSW	15	101,992,745 (GRCm39)	missense	probably damaging	1.00
R4051:Eif4b	UTSW	15	101,995,039 (GRCm39)	missense	probably benign	0.31
R4392:Eif4b	UTSW	15	101,995,076 (GRCm39)	critical splice donor site	probably null
R5105:Eif4b	UTSW	15	101,992,631 (GRCm39)	missense	probably benign	0.42
R5716:Eif4b	UTSW	15	101,990,494 (GRCm39)	missense	probably benign	0.36
R6488:Eif4b	UTSW	15	102,001,422 (GRCm39)	unclassified	probably benign
R7048:Eif4b	UTSW	15	102,001,571 (GRCm39)	unclassified	probably benign
R7647:Eif4b	UTSW	15	101,997,129 (GRCm39)	missense	unknown
R7648:Eif4b	UTSW	15	101,997,435 (GRCm39)	missense	unknown
R8145:Eif4b	UTSW	15	102,001,423 (GRCm39)	missense	unknown
R8709:Eif4b	UTSW	15	102,002,116 (GRCm39)	missense	unknown
R9079:Eif4b	UTSW	15	102,003,177 (GRCm39)	missense	unknown
R9298:Eif4b	UTSW	15	101,990,449 (GRCm39)	missense	possibly damaging	0.72
R9716:Eif4b	UTSW	15	101,990,443 (GRCm39)	missense	probably benign	0.31

Posted On

2014-05-07