Mutagenetix > Incidental Mutation

Incidental Mutation 'R4130:Eif4e1b'

315514

Institutional Source

Beutler Lab

Gene Symbol

Eif4e1b

Ensembl Gene

ENSMUSG00000074895

Gene Name

eukaryotic translation initiation factor 4E family member 1B

Synonyms

Eif4eloo

MMRRC Submission

041636-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54931811-54936272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54935130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 219 (T219M)

Ref Sequence

ENSEMBL: ENSMUSP00000123294 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000110003
AA Change: T219M

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105630
Gene: ENSMUSG00000074895
AA Change: T219M

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 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 benign
Transcript: ENSMUST00000126785
AA Change: T225M

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118697
Gene: ENSMUSG00000074895
AA Change: T225M

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 benign
Transcript: ENSMUST00000132728
AA Change: T219M

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123294
Gene: ENSMUSG00000074895
AA Change: T219M

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
AA Change: T81M

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114217
Gene: ENSMUSG00000074895
AA Change: T81M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142158
AA Change: T224M

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117092
Gene: ENSMUSG00000074895
AA Change: T224M

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

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: ENSMUST00000132415

SMART Domains

Protein: ENSMUSP00000120733
Gene: ENSMUSG00000074895

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

Predicted Effect

probably benign
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 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021A07Rik	T	C	10: 21,301,441 (GRCm39)		noncoding transcript	Het
A4gnt	A	G	9: 99,502,671 (GRCm39)	D277G	possibly damaging	Het
Adam12	C	T	7: 133,514,653 (GRCm39)	V345I	probably damaging	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Arpp21	T	A	9: 111,984,376 (GRCm39)		probably benign	Het
Bbx	T	C	16: 50,045,221 (GRCm39)	K447E	probably damaging	Het
Bcar1	A	G	8: 112,440,797 (GRCm39)	L399P	possibly damaging	Het
Cytl1	T	C	5: 37,892,985 (GRCm39)	S32P	probably damaging	Het
F10	A	G	8: 13,105,584 (GRCm39)	D383G	possibly damaging	Het
Gm37267	T	G	1: 180,336,643 (GRCm39)		noncoding transcript	Het
Golga2	G	A	2: 32,178,178 (GRCm39)	R29H	probably benign	Het
Gpd1	A	T	15: 99,617,158 (GRCm39)		probably null	Het
Lrrk2	G	A	15: 91,639,997 (GRCm39)	R1514Q	probably benign	Het
Map1b	T	C	13: 99,568,188 (GRCm39)	E1511G	unknown	Het
Nup35	G	A	2: 80,486,443 (GRCm39)		probably benign	Het
Or13n4	C	T	7: 106,422,792 (GRCm39)	G314S	probably benign	Het
Pdzd9	A	T	7: 120,262,092 (GRCm39)	D123E	possibly damaging	Het
Pramel29	T	A	4: 143,935,379 (GRCm39)	I121F	probably damaging	Het
Rab3gap2	A	G	1: 184,936,494 (GRCm39)	D19G	possibly damaging	Het
Rnf213	T	C	11: 119,373,832 (GRCm39)	S4972P	probably damaging	Het
Skap1	A	G	11: 96,416,871 (GRCm39)	Y52C	probably damaging	Het
Sphkap	T	C	1: 83,255,619 (GRCm39)	N710S	probably damaging	Het
Tedc1	T	A	12: 113,126,828 (GRCm39)	D363E	probably benign	Het
Vmn2r44	T	A	7: 8,370,918 (GRCm39)	Q709H	probably damaging	Het
Wdr5	G	T	2: 27,410,441 (GRCm39)		probably benign	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
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
R9540:Eif4e1b	UTSW	13	54,933,338 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTGAGGGATTCTATGACAGG -3'
(R):5'- TGCTTATACATGTTCCAAGAGAGG -3'

Sequencing Primer
(F):5'- GGTACTGGTCTATGAGTAAGACATG -3'
(R):5'- TAAAGAACCAGGCTGTCTGC -3'

Posted On

2015-05-14