Mutagenetix > Incidental Mutation

Incidental Mutation 'R9540:Eif4e1b'

719844

Institutional Source

Beutler Lab

Gene Symbol

Eif4e1b

Ensembl Gene

ENSMUSG00000074895

Gene Name

eukaryotic translation initiation factor 4E family member 1B

Synonyms

Eif4eloo

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9540 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54931811-54936272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54933338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 118 (D118G)

Ref Sequence

ENSEMBL: ENSMUSP00000119305 (fasta)

Gene Model

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

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: D118G

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

SMART Domains

Protein: ENSMUSP00000105630
Gene: ENSMUSG00000074895
AA Change: D118G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126525

SMART Domains

Protein: ENSMUSP00000121625
Gene: ENSMUSG00000074895

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126785
AA Change: D124G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118697
Gene: ENSMUSG00000074895
AA Change: D124G

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: ENSMUST00000132005
AA Change: D123G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116681
Gene: ENSMUSG00000074895
AA Change: D123G

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: ENSMUST00000139184
AA Change: D118G

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

SMART Domains

Protein: ENSMUSP00000119305
Gene: ENSMUSG00000074895
AA Change: D118G

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: ENSMUST00000132415
AA Change: D114G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120733
Gene: ENSMUSG00000074895
AA Change: D114G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000132728
AA Change: D118G

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

SMART Domains

Protein: ENSMUSP00000123294
Gene: ENSMUSG00000074895
AA Change: D118G

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 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 damaging
Transcript: ENSMUST00000142158
AA Change: D123G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117092
Gene: ENSMUSG00000074895
AA Change: D123G

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: D118G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120619
Gene: ENSMUSG00000074895
AA Change: D118G

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: 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: 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: 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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,134,237 (GRCm39)	M450K	probably damaging	Het
Akr1e1	A	T	13: 4,657,393 (GRCm39)	S68R	probably damaging	Het
Alg1	A	G	16: 5,061,595 (GRCm39)	K411E	probably benign	Het
Bcl3	T	A	7: 19,556,445 (GRCm39)	D53V	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cpne6	T	C	14: 55,750,108 (GRCm39)	F80L	probably benign	Het
Crybg2	T	C	4: 133,816,225 (GRCm39)	V1334A	probably damaging	Het
Epha10	T	C	4: 124,779,751 (GRCm39)	V199A	probably damaging	Het
Fat4	A	G	3: 39,063,346 (GRCm39)	H4434R	probably benign	Het
Or10ak7	T	C	4: 118,792,034 (GRCm39)	I4V	probably benign	Het
Pcdhb16	A	G	18: 37,613,320 (GRCm39)	D760G	probably benign	Het
Pcx	T	A	19: 4,651,682 (GRCm39)	S20T	probably benign	Het
Pkhd1	A	C	1: 20,269,570 (GRCm39)	S3325A	probably benign	Het
Ppp1r3c	T	C	19: 36,711,461 (GRCm39)	D103G	probably benign	Het
Sds	G	T	5: 120,618,927 (GRCm39)	W130L	probably benign	Het
Trappc14	A	G	5: 138,260,127 (GRCm39)	I338T	probably benign	Het
Ugt2b1	A	T	5: 87,069,771 (GRCm39)	N323K	possibly damaging	Het
Vcam1	A	G	3: 115,911,019 (GRCm39)	S460P	possibly damaging	Het
Zap70	A	G	1: 36,817,869 (GRCm39)	Y290C	possibly damaging	Het
Zzz3	G	A	3: 152,156,306 (GRCm39)	W687*	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
R6574:Eif4e1b	UTSW	13	54,932,711 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TAGTTCAGACAAGTTCCCAGAG -3'
(R):5'- TCCAAGGTGAGACCAGACAC -3'

Sequencing Primer
(F):5'- ATTCCAGGTGGCAGGGC -3'
(R):5'- ACACGGTGAGGAATGCCC -3'

Posted On

2022-07-18