Mutagenetix > Incidental Mutation

Incidental Mutation 'R5105:Eif4b'

402005

Institutional Source

Beutler Lab

Gene Symbol

Eif4b

Ensembl Gene

ENSMUSG00000058655

Gene Name

eukaryotic translation initiation factor 4B

Synonyms

2310046H11Rik

MMRRC Submission

042693-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R5105 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101982208-102005608 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101992631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 63 (Y63H)

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: Y63H

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127774
Gene: ENSMUSG00000058655
AA Change: Y63H

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: ENSMUST00000229122

Predicted Effect

unknown
Transcript: ENSMUST00000229400
AA Change: Y63H

Meta Mutation Damage Score

0.1251

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btbd8	T	G	5: 107,658,337 (GRCm39)	S1124A	possibly damaging	Het
Camsap1	A	G	2: 25,830,941 (GRCm39)	S445P	probably damaging	Het
Ccdc92	G	A	5: 124,912,858 (GRCm39)	P224S	probably damaging	Het
Cep135	T	C	5: 76,741,939 (GRCm39)	V125A	probably benign	Het
Cep192	T	A	18: 67,999,612 (GRCm39)	C2159S	probably benign	Het
Col1a1	G	T	11: 94,833,211 (GRCm39)	R404L	unknown	Het
Col6a3	A	T	1: 90,725,862 (GRCm39)	M1382K	possibly damaging	Het
Cyp4a12b	T	C	4: 115,290,958 (GRCm39)	S329P	probably damaging	Het
Dclk1	T	G	3: 55,163,360 (GRCm39)	S151A	probably benign	Het
Ddhd1	A	T	14: 45,894,864 (GRCm39)	V202E	probably benign	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,888,546 (GRCm39)	E3050G	probably benign	Het
Dync1h1	T	A	12: 110,584,366 (GRCm39)	F590I	probably damaging	Het
Fscb	T	C	12: 64,520,110 (GRCm39)	E452G	possibly damaging	Het
Gpx3	A	T	11: 54,797,980 (GRCm39)	T39S	possibly damaging	Het
Grin2b	T	A	6: 135,709,439 (GRCm39)	Y1369F	probably benign	Het
Kank4	A	T	4: 98,667,396 (GRCm39)	N350K	probably benign	Het
Kdm5d	A	G	Y: 941,752 (GRCm39)	K1318E	probably benign	Het
Large1	A	T	8: 73,578,872 (GRCm39)	Y444*	probably null	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,091,435 (GRCm39)		probably null	Het
Lrrc47	A	G	4: 154,096,673 (GRCm39)	Q156R	probably damaging	Het
Lrriq4	T	C	3: 30,704,632 (GRCm39)	L220P	probably damaging	Het
Matn2	A	G	15: 34,355,814 (GRCm39)	D273G	possibly damaging	Het
Myo18b	T	A	5: 112,988,644 (GRCm39)	I981F	probably damaging	Het
Or1q1	G	A	2: 36,887,469 (GRCm39)		probably null	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or5aq1	A	G	2: 86,966,554 (GRCm39)	I37T	probably benign	Het
Or6b13	A	G	7: 139,782,462 (GRCm39)	Y74H	probably damaging	Het
Or8d6	T	C	9: 39,853,694 (GRCm39)	V46A	probably benign	Het
Pkdrej	T	C	15: 85,700,585 (GRCm39)	T1784A	probably damaging	Het
Ppp3cb	A	G	14: 20,559,490 (GRCm39)	V422A	possibly damaging	Het
Rlf	G	A	4: 121,007,564 (GRCm39)	T472I	probably damaging	Het
Scaf11	T	C	15: 96,318,313 (GRCm39)	E417G	probably damaging	Het
Shisa2	A	T	14: 59,867,263 (GRCm39)	T172S	possibly damaging	Het
Siglec1	T	A	2: 130,922,320 (GRCm39)	Q585L	possibly damaging	Het
Sorcs1	A	T	19: 50,213,579 (GRCm39)	M716K	possibly damaging	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Stxbp5l	C	A	16: 36,962,734 (GRCm39)	V774F	probably benign	Het
Tcaf3	A	G	6: 42,568,259 (GRCm39)	F699S	probably damaging	Het
Tmem87b	T	C	2: 128,673,509 (GRCm39)	V251A	probably damaging	Het
Trpc6	T	A	9: 8,649,471 (GRCm39)	N560K	probably benign	Het
Trpv4	T	A	5: 114,764,981 (GRCm39)	I678F	probably damaging	Het
Ttc3	A	T	16: 94,267,793 (GRCm39)	H1935L	possibly damaging	Het
Vmn2r59	T	A	7: 41,696,529 (GRCm39)	Y71F	probably benign	Het
Wdfy3	A	G	5: 102,003,415 (GRCm39)	I2900T	probably damaging	Het
Zfp184	A	G	13: 22,143,799 (GRCm39)	T502A	possibly damaging	Het
Zmym6	A	G	4: 127,017,551 (GRCm39)	I1019V	probably benign	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
IGL01896:Eif4b	APN	15	102,003,721 (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
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

Predicted Primers

PCR Primer
(F):5'- GCCTCTACACTATGACTGCTGG -3'
(R):5'- ATCCTCAATATCCCACAGTTTGAC -3'

Sequencing Primer
(F):5'- CTACACTATGACTGCTGGATTTTG -3'
(R):5'- TATCCCACAGTTTGACACAAAAAG -3'

Posted On

2016-07-22