Mutagenetix > Incidental Mutation

Incidental Mutation 'R6574:Eif4e1b'

523365

Institutional Source

Beutler Lab

Gene Symbol

Eif4e1b

Ensembl Gene

ENSMUSG00000074895

Gene Name

eukaryotic translation initiation factor 4E family member 1B

Synonyms

Eif4eloo

MMRRC Submission

044698-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6574 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54931811-54936272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54932711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 100 (F100S)

Ref Sequence

ENSEMBL: ENSMUSP00000120619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026993] [ENSMUST00000099503] [ENSMUST00000110003] [ENSMUST00000126525] [ENSMUST00000126785] [ENSMUST00000131692] [ENSMUST00000139184] [ENSMUST00000132005] [ENSMUST00000132415] [ENSMUST00000132728] [ENSMUST00000142158] [ENSMUST00000152204] [ENSMUST00000141398] [ENSMUST00000163915] [ENSMUST00000163796]

AlphaFold

Q3UTA9

Predicted Effect

probably benign
Transcript: ENSMUST00000026993

SMART Domains

Protein: ENSMUSP00000026993
Gene: ENSMUSG00000025875

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	16	263	6.9e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099503

SMART Domains

Protein: ENSMUSP00000097102
Gene: ENSMUSG00000025875

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	16	266	1.3e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110003
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105630
Gene: ENSMUSG00000074895
AA Change: F100S

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

probably damaging
Transcript: ENSMUST00000126525
AA Change: F96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121625
Gene: ENSMUSG00000074895
AA Change: F96S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126785
AA Change: F106S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118697
Gene: ENSMUSG00000074895
AA Change: F106S

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: ENSMUST00000131692

SMART Domains

Protein: ENSMUSP00000115287
Gene: ENSMUSG00000025875

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	15	263	8.9e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000139184
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119305
Gene: ENSMUSG00000074895
AA Change: F100S

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 damaging
Transcript: ENSMUST00000132005
AA Change: F105S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116681
Gene: ENSMUSG00000074895
AA Change: F105S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000132415
AA Change: F96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120733
Gene: ENSMUSG00000074895
AA Change: F96S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000132728
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123294
Gene: ENSMUSG00000074895
AA Change: F100S

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 damaging
Transcript: ENSMUST00000142158
AA Change: F105S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117092
Gene: ENSMUSG00000074895
AA Change: F105S

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 damaging
Transcript: ENSMUST00000152204
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120619
Gene: ENSMUSG00000074895
AA Change: F100S

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

Predicted Effect

probably benign
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: ENSMUST00000163915

SMART Domains

Protein: ENSMUSP00000130765
Gene: ENSMUSG00000025875

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	13	143	5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163796

SMART Domains

Protein: ENSMUSP00000131671
Gene: ENSMUSG00000025875

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	13	193	4.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171859

SMART Domains

Protein: ENSMUSP00000128568
Gene: ENSMUSG00000025875

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	1	79	3.6e-17	PFAM
Pfam:Tetraspannin	78	144	1.5e-13	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	C	3: 146,356,613 (GRCm39)	D98E	probably benign	Het
Ackr3	T	C	1: 90,141,790 (GRCm39)	I83T	probably damaging	Het
Ahnak	A	T	19: 8,994,411 (GRCm39)	M5232L	probably benign	Het
Ano1	A	C	7: 144,161,653 (GRCm39)		probably null	Het
Arap1	T	A	7: 101,053,208 (GRCm39)	I532N	probably damaging	Het
Bsn	A	G	9: 107,991,153 (GRCm39)	V1533A	possibly damaging	Het
Ccdc83	T	C	7: 89,875,885 (GRCm39)	S329G	possibly damaging	Het
Ccno	T	A	13: 113,124,719 (GRCm39)	D96E	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Degs1	T	C	1: 182,106,638 (GRCm39)	Y207C	probably damaging	Het
Dnah7a	A	T	1: 53,495,693 (GRCm39)		probably null	Het
Dnah9	C	T	11: 66,059,107 (GRCm39)	A63T	probably benign	Het
Eps8	A	T	6: 137,460,596 (GRCm39)	Y722*	probably null	Het
Etfa	A	T	9: 55,402,910 (GRCm39)	I96N	probably damaging	Het
Flt4	A	G	11: 49,516,199 (GRCm39)	T101A	probably benign	Het
Gabra4	A	G	5: 71,781,268 (GRCm39)	I381T	probably benign	Het
Gria2	A	G	3: 80,596,603 (GRCm39)	V821A	probably damaging	Het
Gss	G	T	2: 155,423,931 (GRCm39)	T51K	probably damaging	Het
Igkv13-84	C	A	6: 68,916,977 (GRCm39)	Y91*	probably null	Het
Iqcb1	A	T	16: 36,691,863 (GRCm39)	Q487H	probably damaging	Het
Itga8	G	A	2: 12,234,972 (GRCm39)	H429Y	probably benign	Het
Myo1c	T	G	11: 75,547,124 (GRCm39)		probably benign	Het
Odad2	C	A	18: 7,129,394 (GRCm39)		probably null	Het
Pcdhga5	T	C	18: 37,828,434 (GRCm39)	L294P	probably damaging	Het
Pkd2l2	T	C	18: 34,558,134 (GRCm39)	L271P	probably damaging	Het
Plcb2	T	C	2: 118,549,654 (GRCm39)	D290G	probably damaging	Het
Pmp22	C	T	11: 63,049,099 (GRCm39)	A114V	probably damaging	Het
Ppp1r15a	T	C	7: 45,173,533 (GRCm39)	D425G	probably benign	Het
Ppp2r3d	G	A	9: 101,071,584 (GRCm39)	P678L	probably benign	Het
Ptbp2	T	G	3: 119,541,596 (GRCm39)	Q147P	probably damaging	Het
Sez6l	A	G	5: 112,724,692 (GRCm39)	S15P	possibly damaging	Het
Slc25a10	T	C	11: 120,387,903 (GRCm39)	F199L	probably benign	Het
Slc4a8	A	G	15: 100,705,197 (GRCm39)	N801S	probably damaging	Het
Sucnr1	T	C	3: 59,994,020 (GRCm39)	Y183H	probably damaging	Het
Tmem67	T	C	4: 12,063,086 (GRCm39)	D520G	possibly damaging	Het
Trgc3	G	T	13: 19,445,293 (GRCm39)	R80S	probably benign	Het
Trrap	G	T	5: 144,752,360 (GRCm39)		probably null	Het
Tubgcp5	C	T	7: 55,473,331 (GRCm39)	P803L	probably benign	Het
Ubash3a	A	T	17: 31,451,370 (GRCm39)	Q423L	probably damaging	Het
Ucp1	G	A	8: 84,020,718 (GRCm39)		probably null	Het
Vmn2r94	G	T	17: 18,476,421 (GRCm39)	N425K	probably damaging	Het
Vps52	A	G	17: 34,181,452 (GRCm39)	M418V	probably null	Het

Other mutations in Eif4e1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01614:Eif4e1b	APN	13	54,934,729 (GRCm39)	missense	probably damaging	1.00
R1766:Eif4e1b	UTSW	13	54,934,704 (GRCm39)	missense	probably damaging	0.98
R1858:Eif4e1b	UTSW	13	54,935,091 (GRCm39)	splice site	probably null
R4130:Eif4e1b	UTSW	13	54,935,130 (GRCm39)	missense	probably benign	0.25
R4426:Eif4e1b	UTSW	13	54,932,296 (GRCm39)	missense	probably benign	0.01
R4702:Eif4e1b	UTSW	13	54,935,138 (GRCm39)	missense	probably damaging	0.99
R5367:Eif4e1b	UTSW	13	54,934,757 (GRCm39)	missense	probably damaging	0.99
R5595:Eif4e1b	UTSW	13	54,934,529 (GRCm39)	missense	possibly damaging	0.49
R5976:Eif4e1b	UTSW	13	54,932,635 (GRCm39)	missense	probably damaging	1.00
R6195:Eif4e1b	UTSW	13	54,932,018 (GRCm39)	missense	probably null	0.13
R6610:Eif4e1b	UTSW	13	54,932,128 (GRCm39)	intron	probably benign
R6980:Eif4e1b	UTSW	13	54,931,916 (GRCm39)	critical splice donor site	probably null
R7131:Eif4e1b	UTSW	13	54,931,913 (GRCm39)	missense	probably null	0.97
R7349:Eif4e1b	UTSW	13	54,932,006 (GRCm39)	missense	probably benign	0.33
R9311:Eif4e1b	UTSW	13	54,932,332 (GRCm39)	missense	probably benign	0.06
R9540:Eif4e1b	UTSW	13	54,933,338 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGCGTGTCCCAGATCTCAC -3'
(R):5'- ACAAAGCCACAGAGTCTCGG -3'

Sequencing Primer
(F):5'- CCTCCTACTTTACAAACATGGCAG -3'
(R):5'- GCTTCTTCCAGACCCCAGG -3'

Posted On

2018-06-22