Mutagenetix > Incidental Mutations

Incidental Mutation 'R5377:Eef1d'

425644

Institutional Source

Beutler Lab

Gene Symbol

Eef1d

Ensembl Gene

ENSMUSG00000055762

Gene Name

eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)

Synonyms

MMRRC Submission

042845-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.357) question?

Stock #

R5377 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75894205-75909556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75903189 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 207 (T207N)

Ref Sequence

ENSEMBL: ENSMUSP00000123388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023235] [ENSMUST00000089680] [ENSMUST00000089681] [ENSMUST00000109972] [ENSMUST00000109975] [ENSMUST00000116440] [ENSMUST00000123712] [ENSMUST00000127550] [ENSMUST00000137426] [ENSMUST00000141268] [ENSMUST00000141475] [ENSMUST00000144614] [ENSMUST00000145764] [ENSMUST00000154584] [ENSMUST00000151066]

Predicted Effect

probably benign
Transcript: ENSMUST00000023235

SMART Domains

Protein: ENSMUSP00000023235
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	62	75	N/A	INTRINSIC
coiled coil region	82	120	N/A	INTRINSIC
EF-1_beta_acid	159	186	2.53e-4	SMART
Pfam:EF1_GNE	195	245	3.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000055220

Predicted Effect

probably benign
Transcript: ENSMUST00000089680

SMART Domains

Protein: ENSMUSP00000087109
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	54	70	N/A	INTRINSIC
coiled coil region	77	115	N/A	INTRINSIC
EF-1_beta_acid	154	181	2.53e-4	SMART
EF1_GNE	190	276	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000089681
AA Change: T207N

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000087110
Gene: ENSMUSG00000055762
AA Change: T207N

Domain	Start	End	E-Value	Type
low complexity region	32	52	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
internal_repeat_2	108	136	2.92e-5	PROSPERO
low complexity region	137	156	N/A	INTRINSIC
internal_repeat_2	231	259	2.92e-5	PROSPERO
internal_repeat_1	244	263	2.02e-6	PROSPERO
internal_repeat_1	389	408	2.02e-6	PROSPERO
low complexity region	441	454	N/A	INTRINSIC
coiled coil region	461	499	N/A	INTRINSIC
EF-1_beta_acid	538	565	2.53e-4	SMART
EF1_GNE	574	660	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109972

SMART Domains

Protein: ENSMUSP00000105599
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
coiled coil region	58	96	N/A	INTRINSIC
EF-1_beta_acid	135	162	2.53e-4	SMART
EF1_GNE	171	257	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109975
AA Change: T207N

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105602
Gene: ENSMUSG00000055762
AA Change: T207N

Domain	Start	End	E-Value	Type
low complexity region	32	52	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
internal_repeat_2	108	136	2.92e-5	PROSPERO
low complexity region	137	156	N/A	INTRINSIC
internal_repeat_2	231	259	2.92e-5	PROSPERO
internal_repeat_1	244	263	2.02e-6	PROSPERO
internal_repeat_1	389	408	2.02e-6	PROSPERO
low complexity region	441	454	N/A	INTRINSIC
coiled coil region	461	499	N/A	INTRINSIC
EF-1_beta_acid	538	565	2.53e-4	SMART
EF1_GNE	574	660	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116440

SMART Domains

Protein: ENSMUSP00000112141
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
coiled coil region	58	96	N/A	INTRINSIC
EF-1_beta_acid	135	162	2.53e-4	SMART
EF1_GNE	171	257	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123712

SMART Domains

Protein: ENSMUSP00000122155
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
coiled coil region	58	96	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127550

SMART Domains

Protein: ENSMUSP00000120735
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	32	52	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
low complexity region	137	156	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129800

Predicted Effect

probably benign
Transcript: ENSMUST00000137426
AA Change: T123N

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114753
Gene: ENSMUSG00000055762
AA Change: T123N

Domain	Start	End	E-Value	Type
low complexity region	53	72	N/A	INTRINSIC
internal_repeat_1	160	179	9.48e-6	PROSPERO
internal_repeat_1	305	324	9.48e-6	PROSPERO
low complexity region	330	346	N/A	INTRINSIC
coiled coil region	353	391	N/A	INTRINSIC
EF-1_beta_acid	430	457	2.53e-4	SMART
EF1_GNE	466	552	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141268

SMART Domains

Protein: ENSMUSP00000115553
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	78	94	N/A	INTRINSIC
coiled coil region	101	139	N/A	INTRINSIC
EF-1_beta_acid	178	205	2.53e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141475
AA Change: T207N

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123388
Gene: ENSMUSG00000055762
AA Change: T207N

Domain	Start	End	E-Value	Type
low complexity region	32	52	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
internal_repeat_1	122	136	7.17e-5	PROSPERO
low complexity region	137	156	N/A	INTRINSIC
internal_repeat_1	174	188	7.17e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000144614

SMART Domains

Protein: ENSMUSP00000123005
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	62	75	N/A	INTRINSIC
coiled coil region	82	120	N/A	INTRINSIC
EF-1_beta_acid	159	186	2.53e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145764

SMART Domains

Protein: ENSMUSP00000117782
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	32	52	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154584

SMART Domains

Protein: ENSMUSP00000116360
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	62	75	N/A	INTRINSIC
coiled coil region	82	120	N/A	INTRINSIC
EF-1_beta_acid	159	186	1.2e-8	SMART
EF1_GNE	195	280	4.9e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151066

SMART Domains

Protein: ENSMUSP00000118889
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
EF-1_beta_acid	68	95	2.53e-4	SMART
EF1_GNE	104	190	4.87e-41	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,645,253	V372F	probably benign	Het
Adcy10	G	A	1: 165,519,895	C393Y	probably damaging	Het
Adgrg7	A	C	16: 56,730,306	I681S	possibly damaging	Het
Akap8l	T	C	17: 32,321,511		probably benign	Het
Akr1a1	A	T	4: 116,639,895	V156E	probably damaging	Het
Alk	T	G	17: 71,895,739	D1167A	probably damaging	Het
Ankrd11	T	C	8: 122,893,714		probably null	Het
Aspm	T	A	1: 139,457,483	N288K	probably damaging	Het
Aspm	A	G	1: 139,470,395		probably null	Het
Asxl2	G	A	12: 3,474,618		probably null	Het
Atp6v0a1	A	G	11: 101,055,587	H802R	probably damaging	Het
B4galnt1	A	G	10: 127,171,822	T531A	possibly damaging	Het
Ccdc114	C	T	7: 45,942,082	R257*	probably null	Het
Cecr2	A	G	6: 120,756,569	N506D	possibly damaging	Het
Crebrf	T	C	17: 26,759,865	V509A	probably damaging	Het
Cyp4f40	A	T	17: 32,675,616	I413F	probably null	Het
Defb12	C	A	8: 19,114,326		probably null	Het
Dnah2	T	C	11: 69,421,848	E4297G	probably damaging	Het
Dpysl5	A	T	5: 30,791,513	N371Y	probably damaging	Het
Esrrb	C	T	12: 86,519,009	Q416*	probably null	Het
Exd2	T	C	12: 80,489,448	L284P	probably damaging	Het
Fat3	T	A	9: 16,376,443	I595F	probably benign	Het
Gm9920	A	G	15: 55,108,975		probably benign	Het
Hephl1	T	C	9: 15,069,788	K783E	probably damaging	Het
Irs2	A	G	8: 11,005,277	S1052P	probably benign	Het
Kctd18	T	C	1: 57,963,093	I192V	probably benign	Het
Lama3	A	G	18: 12,453,746	D722G	probably damaging	Het
Lepr	T	C	4: 101,815,019	V1080A	possibly damaging	Het
Lpin1	C	T	12: 16,563,655	G504S	probably damaging	Het
Lrit2	A	C	14: 37,069,183	Q273P	possibly damaging	Het
Mgea5	A	T	19: 45,758,022	Y779*	probably null	Het
Mlkl	T	A	8: 111,327,937	E189D	probably benign	Het
Mttp	C	T	3: 138,105,029	R608H	probably benign	Het
Nav2	T	C	7: 49,589,160	V2011A	probably benign	Het
Nos2	A	T	11: 78,957,491	I1075F	probably benign	Het
Npat	A	G	9: 53,550,036		probably null	Het
Nucks1	T	C	1: 131,919,033	F16L	probably damaging	Het
Nus1	T	C	10: 52,429,213	S150P	possibly damaging	Het
Olfr1230	G	T	2: 89,297,162	T36K	probably damaging	Het
Olfr881	A	T	9: 37,992,612	Y40F	probably benign	Het
Pclo	A	G	5: 14,681,353	T3290A	unknown	Het
Pign	A	T	1: 105,657,812	F4Y	probably benign	Het
Rfx4	A	G	10: 84,860,542	N233D	possibly damaging	Het
Rpgrip1	A	T	14: 52,160,195	M1325L	possibly damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scaf11	T	A	15: 96,417,120	H1227L	possibly damaging	Het
Sec31b	G	T	19: 44,518,637	P840T	probably damaging	Het
Slc16a9	T	A	10: 70,283,128	L426I	probably damaging	Het
Slc17a2	T	C	13: 23,812,592	S27P	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Tacc1	A	G	8: 25,182,283	S310P	possibly damaging	Het
Tmem245	G	A	4: 56,947,084	R110C	probably damaging	Het
Trip12	T	C	1: 84,757,431	Y953C	probably damaging	Het
Trpm7	C	A	2: 126,842,855		probably null	Het
Ush2a	G	A	1: 188,912,123	V4561I	probably benign	Het
Vmn1r192	C	T	13: 22,187,631	V140I	probably benign	Het
Vmn2r66	A	T	7: 85,006,818	I330N	probably damaging	Het
Vmn2r99	T	C	17: 19,379,269	V405A	probably damaging	Het
Wdhd1	A	C	14: 47,272,221	V172G	probably benign	Het
Zfhx3	C	T	8: 108,951,185	R2956C	possibly damaging	Het
Zfp446	T	C	7: 12,982,251	L283P	possibly damaging	Het
Zfp82	T	C	7: 30,057,166	K164E	probably damaging	Het

Other mutations in Eef1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02066:Eef1d	APN	15	75896855	missense	probably benign	0.10
IGL02265:Eef1d	APN	15	75903434	missense	probably benign	0.00
IGL02609:Eef1d	APN	15	75896313	missense	probably null	1.00
IGL02671:Eef1d	APN	15	75895805	missense	probably damaging	1.00
IGL02728:Eef1d	APN	15	75903096	missense	probably damaging	1.00
PIT4131001:Eef1d	UTSW	15	75903732	missense	probably benign	0.01
R0034:Eef1d	UTSW	15	75902959	missense	probably benign
R0523:Eef1d	UTSW	15	75903156	missense	probably benign
R0831:Eef1d	UTSW	15	75896806	unclassified	probably benign
R1164:Eef1d	UTSW	15	75902677	critical splice donor site	probably null
R1467:Eef1d	UTSW	15	75895921	missense	probably damaging	1.00
R1467:Eef1d	UTSW	15	75895921	missense	probably damaging	1.00
R1594:Eef1d	UTSW	15	75896346	missense	probably damaging	1.00
R1796:Eef1d	UTSW	15	75901175	missense	probably damaging	1.00
R2039:Eef1d	UTSW	15	75895769	missense	probably damaging	1.00
R2093:Eef1d	UTSW	15	75902701	missense	probably benign	0.00
R2119:Eef1d	UTSW	15	75903213	missense	probably benign	0.43
R2372:Eef1d	UTSW	15	75896317	missense	probably damaging	1.00
R4401:Eef1d	UTSW	15	75902920	missense	probably benign
R4403:Eef1d	UTSW	15	75902920	missense	probably benign
R4425:Eef1d	UTSW	15	75902799	missense	possibly damaging	0.92
R4614:Eef1d	UTSW	15	75903576	missense	probably benign	0.00
R4791:Eef1d	UTSW	15	75903682	missense	possibly damaging	0.85
R4864:Eef1d	UTSW	15	75903406	missense	possibly damaging	0.73
R5376:Eef1d	UTSW	15	75903189	missense	probably benign	0.25
R5415:Eef1d	UTSW	15	75903181	missense	probably benign	0.00
R6966:Eef1d	UTSW	15	75903709	missense	probably benign	0.06
R7640:Eef1d	UTSW	15	75902707	missense	probably damaging	1.00
R8210:Eef1d	UTSW	15	75896460	missense	probably damaging	1.00
Z1177:Eef1d	UTSW	15	75902878	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGACCATCAAACAGGGCCTC -3'
(R):5'- AAAGCTCCTACCGTCAGAGG -3'

Sequencing Primer
(F):5'- AGGGCCTCATAGAAGCCC -3'
(R):5'- AGATGTAGCTGCCCAGGC -3'

Posted On

2016-08-04