Mutagenetix > Incidental Mutations

Incidental Mutation 'R7349:Eif4e1b'

570448

Institutional Source

Beutler Lab

Gene Symbol

Eif4e1b

Ensembl Gene

ENSMUSG00000074895

Gene Name

eukaryotic translation initiation factor 4E family member 1B

Synonyms

Eif4eloo

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7349 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54783998-54788459 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54784193 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

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

probably benign
Transcript: ENSMUST00000126525
AA Change: V30A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121625
Gene: ENSMUSG00000074895
AA Change: V30A

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 benign
Transcript: ENSMUST00000132415
AA Change: V30A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120733
Gene: ENSMUSG00000074895
AA Change: V30A

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 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: 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,842,903	T326S	possibly damaging	Het
Acly	A	T	11: 100,521,991	H91Q	probably benign	Het
Acpp	T	A	9: 104,291,458	I403F	probably benign	Het
Angpt2	T	A	8: 18,692,074	M489L	probably damaging	Het
Arap1	T	C	7: 101,390,228	I565T	possibly damaging	Het
Atg16l2	T	C	7: 101,290,266	D563G	probably damaging	Het
Atp6v0a2	T	A	5: 124,712,328	Y386*	probably null	Het
Atp8b4	A	G	2: 126,325,345	V1078A	probably benign	Het
BC100530	A	G	16: 36,364,312	V23A	probably damaging	Het
Bsn	T	C	9: 108,110,783	D2590G	unknown	Het
Casp12	T	C	9: 5,345,527		probably null	Het
Ccdc87	T	C	19: 4,841,840	S787P	probably damaging	Het
Cdh13	A	G	8: 119,242,358	T485A	probably damaging	Het
Dip2a	T	C	10: 76,285,592	H810R	probably damaging	Het
Dmbt1	A	T	7: 131,041,124	Y120F	unknown	Het
Dmgdh	C	T	13: 93,752,233	T793I	possibly damaging	Het
Dnhd1	A	G	7: 105,710,123	D3555G	probably damaging	Het
Ercc5	T	G	1: 44,180,908	D1113E	possibly damaging	Het
Fbn1	T	C	2: 125,315,401	N2321D	possibly damaging	Het
Fbrs	T	C	7: 127,482,799	L237P	probably damaging	Het
Flg2	T	A	3: 93,220,206	S2142T	unknown	Het
Ftsj3	G	A	11: 106,249,746	T761I	probably damaging	Het
Gdi2	C	A	13: 3,556,395	T157N	probably benign	Het
Gm8122	C	A	14: 43,230,601		probably null	Het
Gtpbp10	T	C	5: 5,555,379	E108G	possibly damaging	Het
Hectd4	T	C	5: 121,310,663	L358P	probably damaging	Het
Herc3	T	C	6: 58,858,986	C271R	probably benign	Het
Hspb1	C	T	5: 135,889,333	T178M	possibly damaging	Het
Htr3b	C	T	9: 48,936,019	V399M	probably benign	Het
Hydin	A	G	8: 110,398,171		probably null	Het
Itpr3	T	A	17: 27,107,812		probably null	Het
Iyd	G	T	10: 3,545,638	V99F	possibly damaging	Het
Lrrc36	G	A	8: 105,452,268	G365D	probably damaging	Het
Map1b	T	A	13: 99,433,640	I858F	unknown	Het
Med12l	A	T	3: 59,258,325	D1488V	probably damaging	Het
Ms4a6c	T	A	19: 11,478,191	N121K	probably damaging	Het
Nlrp1b	T	G	11: 71,182,117	Q300P	probably benign	Het
Nlrp3	G	A	11: 59,548,086	R163H	probably damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Olfr1411	T	C	1: 92,597,182	V221A	possibly damaging	Het
Olfr652	A	G	7: 104,564,650	H143R	probably benign	Het
Optc	T	G	1: 133,897,879	D356A	probably damaging	Het
Pdzd2	C	G	15: 12,399,205	V812L	probably damaging	Het
Phlpp2	T	C	8: 109,928,646	F691S	probably damaging	Het
Pigk	T	C	3: 152,747,601	F319L	probably benign	Het
Pkhd1l1	A	G	15: 44,514,954	T1035A	probably damaging	Het
Plekhg3	A	G	12: 76,564,565	T261A	probably benign	Het
Plekhm1	A	G	11: 103,387,334	F312S	probably damaging	Het
Pms2	T	A	5: 143,925,836	I587N	probably benign	Het
Ppl	T	A	16: 5,104,729	H272L	probably damaging	Het
Prkce	G	A	17: 86,493,355	A400T	probably benign	Het
Ptpn9	T	C	9: 57,044,376	S324P	probably benign	Het
Ptprk	A	T	10: 28,592,838	N1432I	possibly damaging	Het
R3hdm2	T	C	10: 127,492,646	S746P	probably benign	Het
Rnf220	G	A	4: 117,277,818	A412V	probably damaging	Het
Scel	G	A	14: 103,543,879	A154T	probably benign	Het
Sirpb1a	A	T	3: 15,410,604	N290K	probably damaging	Het
Sirpb1c	A	T	3: 15,832,146		probably null	Het
Sorbs2	A	T	8: 45,795,823	R704*	probably null	Het
Spast	T	C	17: 74,373,324	V427A	probably damaging	Het
Stxbp4	A	T	11: 90,592,111		probably null	Het
Thsd7a	C	A	6: 12,352,068	G1043C		Het
Tmem205	C	T	9: 21,921,114	C167Y	probably damaging	Het
Trappc9	A	T	15: 72,736,869	L897*	probably null	Het
Trim36	A	G	18: 46,169,428	F518L	probably benign	Het
Ttc12	T	G	9: 49,447,967	T402P	possibly damaging	Het
Twnk	T	C	19: 45,010,161	V506A	possibly damaging	Het
Vmn2r18	A	T	5: 151,562,217	L604*	probably null	Het
Wdr83	T	C	8: 85,079,831	N113D	possibly damaging	Het
Zfp628	G	A	7: 4,921,818	G1013E	probably 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
R6195:Eif4e1b	UTSW	13	54784205	missense	probably null	0.13
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

Predicted Primers

PCR Primer
(F):5'- TGAGGTTGTGAGTCTACCCC -3'
(R):5'- CTCCGCAGTTGCTTCTGATG -3'

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

Posted On

2019-09-13