Mutagenetix > Incidental Mutations

Incidental Mutation 'R6195:Eif4e1b'

502873

Institutional Source

Beutler Lab

Gene Symbol

Eif4e1b

Ensembl Gene

ENSMUSG00000074895

Gene Name

eukaryotic translation initiation factor 4E family member 1B

Synonyms

Eif4eloo

MMRRC Submission

044335-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54783998-54788459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54784205 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 34 (N34S)

Ref Sequence

ENSEMBL: ENSMUSP00000120733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110003] [ENSMUST00000126525] [ENSMUST00000126785] [ENSMUST00000132005] [ENSMUST00000132415] [ENSMUST00000132728] [ENSMUST00000139184] [ENSMUST00000141398] [ENSMUST00000142158] [ENSMUST00000152204]

Predicted Effect

probably benign
Transcript: ENSMUST00000110003

SMART Domains

Protein: ENSMUSP00000105630
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:IF4E	66	227	2e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124055

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126525
AA Change: N34S

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121625
Gene: ENSMUSG00000074895
AA Change: N34S

Domain	Start	End	E-Value	Type
Pfam:IF4E	63	111	3.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126785

SMART Domains

Protein: ENSMUSP00000118697
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	9	30	N/A	INTRINSIC
Pfam:IF4E	72	234	1.7e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132005

SMART Domains

Protein: ENSMUSP00000116681
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
Pfam:IF4E	71	175	3e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000132415
AA Change: N34S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120733
Gene: ENSMUSG00000074895
AA Change: N34S

Domain	Start	End	E-Value	Type
Pfam:IF4E	63	162	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132728

SMART Domains

Protein: ENSMUSP00000123294
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:IF4E	66	228	4.9e-56	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000139184

SMART Domains

Protein: ENSMUSP00000119305
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:IF4E	66	134	4.4e-27	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000141398

SMART Domains

Protein: ENSMUSP00000114217
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
Pfam:IF4E	1	90	6.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142158

SMART Domains

Protein: ENSMUSP00000117092
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
Pfam:IF4E	71	233	4.8e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152204

SMART Domains

Protein: ENSMUSP00000120619
Gene: ENSMUSG00000074895

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:IF4E	66	170	9.1e-36	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 193,174,834		probably null	Het
Abtb1	T	C	6: 88,840,736	E50G	probably benign	Het
Agbl2	T	A	2: 90,813,313	D792E	probably benign	Het
Aoc1	C	A	6: 48,908,677	N705K	probably damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Arhgef7	C	T	8: 11,822,017	T701I	probably damaging	Het
Atg10	G	T	13: 91,208,436		probably null	Het
Atp5c1	T	C	2: 10,064,115	I116M	possibly damaging	Het
Baz2b	T	A	2: 59,907,511	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,666,740	*174Q	probably null	Het
Cacna1a	A	G	8: 84,588,753	Y1539C	probably damaging	Het
Creb3	A	G	4: 43,566,346	D260G	probably benign	Het
Cyp1b1	G	T	17: 79,714,266	L16M	probably damaging	Het
Dhx29	T	A	13: 112,964,537	S1205T	probably benign	Het
Dlec1	A	G	9: 119,137,253	K1097E	probably benign	Het
Dnah7b	G	A	1: 46,204,269	D1578N	probably damaging	Het
Dok3	T	C	13: 55,523,576	N394S	probably benign	Het
Efhb	A	G	17: 53,462,552	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 78,871,233	Y137*	probably null	Het
F2rl3	A	G	8: 72,762,885	T247A	probably benign	Het
Fam196a	T	C	7: 134,918,648	D51G	probably damaging	Het
Fan1	A	T	7: 64,354,371	H782Q	probably damaging	Het
Fer1l5	T	C	1: 36,375,286		probably null	Het
Fer1l6	T	C	15: 58,637,957	S1423P	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fgfbp1	T	C	5: 43,979,362	D196G	possibly damaging	Het
Fxn	G	A	19: 24,262,043	R162C	probably damaging	Het
Fxr2	C	T	11: 69,652,273	T632M	probably benign	Het
Gab1	A	T	8: 80,879,532	Y24*	probably null	Het
Gcc2	T	C	10: 58,270,984	S681P	probably damaging	Het
Git2	T	C	5: 114,767,114	N94S	probably benign	Het
Gm17018	A	G	19: 45,577,019	D144G	probably damaging	Het
Gm5538	G	A	3: 59,752,202	V359I	probably damaging	Het
Gm5799	T	G	14: 43,544,631	L87V	probably damaging	Het
Golga7b	A	T	19: 42,263,447	D44V	probably benign	Het
Hace1	T	A	10: 45,670,443	I391N	possibly damaging	Het
Hmcn2	T	C	2: 31,384,115	S1416P	probably damaging	Het
Hoxa11	G	A	6: 52,245,701	R7C	probably damaging	Het
Igkv14-126	A	T	6: 67,896,491	T68S	possibly damaging	Het
Itpr3	T	C	17: 27,086,960	I164T	probably damaging	Het
Kif22	A	G	7: 127,028,959	S540P	probably damaging	Het
Ldlr	T	A	9: 21,731,781	C34*	probably null	Het
Lrrtm4	T	C	6: 80,021,956	L117P	probably damaging	Het
Mad2l1	G	T	6: 66,537,628	G94C	possibly damaging	Het
Malrd1	C	A	2: 15,695,326	H661Q	probably damaging	Het
Mical3	T	A	6: 121,016,835		probably benign	Het
Mipep	T	A	14: 60,872,105	W644R	probably damaging	Het
Mycl	A	G	4: 122,999,920	D171G	probably damaging	Het
Myof	A	G	19: 37,913,357	F997L	possibly damaging	Het
Nagpa	C	T	16: 5,203,749	R46H	probably damaging	Het
Nf1	A	G	11: 79,565,975	Y629C	probably damaging	Het
Obscn	T	A	11: 58,997,207	E2164V	probably damaging	Het
Olfr1061	T	C	2: 86,413,207	I282V	probably damaging	Het
Olfr1152	T	C	2: 87,868,560	S190P	possibly damaging	Het
Olfr205	A	G	16: 59,329,422	V29A	possibly damaging	Het
Olfr648	A	T	7: 104,179,754	V218D	possibly damaging	Het
Pcdh20	T	C	14: 88,468,052	E604G	probably benign	Het
Pcdhb7	G	A	18: 37,342,656	V282I	probably benign	Het
Pcnx4	A	G	12: 72,556,874	D523G	possibly damaging	Het
Pigx	G	A	16: 32,084,586	T219I	probably damaging	Het
Plch1	G	T	3: 63,740,789	P399Q	probably damaging	Het
Pvrig	T	A	5: 138,342,275	F74I	possibly damaging	Het
Rsrp1	T	A	4: 134,926,802	I255K	probably damaging	Het
Scn1a	T	A	2: 66,277,618	Y1588F	possibly damaging	Het
Serpina9	T	A	12: 104,001,407	H243L	probably damaging	Het
Tapbp	T	C	17: 33,919,982	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,210,565	K40*	probably null	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tbc1d23	T	C	16: 57,231,350	E6G	possibly damaging	Het
Tdrd6	A	G	17: 43,629,752	V135A	probably damaging	Het
Tmem87a	A	T	2: 120,392,175		probably null	Het
Tnrc18	T	A	5: 142,765,173	K1217N	unknown	Het
Trim33	G	A	3: 103,337,532		probably null	Het
Ttn	T	A	2: 76,737,653	Y27632F	probably benign	Het
Tubgcp6	A	T	15: 89,122,791	D9E	probably benign	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Zfp655	T	A	5: 145,243,762	F143L	possibly damaging	Het

Other mutations in Eif4e1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01614:Eif4e1b	APN	13	54786916	missense	probably damaging	1.00
R1766:Eif4e1b	UTSW	13	54786891	missense	probably damaging	0.98
R1858:Eif4e1b	UTSW	13	54787278	unclassified	probably null
R4130:Eif4e1b	UTSW	13	54787317	missense	probably benign	0.25
R4426:Eif4e1b	UTSW	13	54784483	missense	probably benign	0.01
R4702:Eif4e1b	UTSW	13	54787325	missense	probably damaging	0.99
R5367:Eif4e1b	UTSW	13	54786944	missense	probably damaging	0.99
R5595:Eif4e1b	UTSW	13	54786716	missense	possibly damaging	0.49
R5976:Eif4e1b	UTSW	13	54784822	missense	probably damaging	1.00
R6574:Eif4e1b	UTSW	13	54784898	missense	probably damaging	1.00
R6610:Eif4e1b	UTSW	13	54784315	intron	probably benign
R6980:Eif4e1b	UTSW	13	54784103	critical splice donor site	probably null
R7131:Eif4e1b	UTSW	13	54784100	missense	probably null	0.97
R7349:Eif4e1b	UTSW	13	54784193	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TTGTGAGTCTACCCCATCCG -3'
(R):5'- TCCGCAGTTGCTTCTGATG -3'

Sequencing Primer
(F):5'- GCCTTTCCCAGAGCAACTG -3'
(R):5'- CAGTTGCTTCTGATGGCTTTTC -3'

Posted On

2018-02-27