Mutagenetix > Incidental Mutation

Incidental Mutation 'R4614:Eef1d'

344978

Institutional Source

Beutler Lab

Gene Symbol

Eef1d

Ensembl Gene

ENSMUSG00000055762

Gene Name

eukaryotic translation elongation factor 1 delta

Synonyms

1700026P12Rik, 5730529A16Rik

MMRRC Submission

041825-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.328) question?

Stock #

R4614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75766643-75781425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75775425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 78 (N78S)

Ref Sequence

ENSEMBL: ENSMUSP00000117782 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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: N78S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000087110
Gene: ENSMUSG00000055762
AA Change: N78S

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: N78S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105602
Gene: ENSMUSG00000055762
AA Change: N78S

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: ENSMUST00000145764
AA Change: N78S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117782
Gene: ENSMUSG00000055762
AA Change: N78S

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: ENSMUST00000127550
AA Change: N78S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120735
Gene: ENSMUSG00000055762
AA Change: N78S

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

probably benign
Transcript: ENSMUST00000141475
AA Change: N78S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123388
Gene: ENSMUSG00000055762
AA Change: N78S

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

noncoding transcript
Transcript: ENSMUST00000129800

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

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: ENSMUST00000137426

SMART Domains

Protein: ENSMUSP00000114753
Gene: ENSMUSG00000055762

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: 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: 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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (95/97)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	G	13: 77,402,375 (GRCm39)		probably null	Het
4932414N04Rik	C	A	2: 68,575,804 (GRCm39)	T701K	probably benign	Het
Abcb11	A	T	2: 69,115,025 (GRCm39)	H640Q	possibly damaging	Het
Ago2	C	T	15: 73,002,816 (GRCm39)	V139M	probably damaging	Het
Apol11a	A	T	15: 77,400,772 (GRCm39)	K86N	probably benign	Het
Ass1	T	C	2: 31,404,795 (GRCm39)	Y359H	probably damaging	Het
Bpifa3	A	T	2: 153,978,200 (GRCm39)	N34I	probably damaging	Het
Brwd1	A	T	16: 95,848,559 (GRCm39)	L540H	probably damaging	Het
C3ar1	G	A	6: 122,827,680 (GRCm39)	S179F	probably benign	Het
Ccnb1ip1	T	C	14: 51,029,652 (GRCm39)	T137A	probably benign	Het
Cd5l	A	G	3: 87,275,926 (GRCm39)	T299A	probably benign	Het
Cdk12	T	A	11: 98,140,603 (GRCm39)		probably benign	Het
Cep290	T	C	10: 100,344,602 (GRCm39)	M480T	probably benign	Het
Cep290	G	A	10: 100,395,549 (GRCm39)	R2112K	possibly damaging	Het
Chn2	G	A	6: 54,267,388 (GRCm39)	M292I	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 24,991,095 (GRCm39)		probably null	Het
Cpeb1	A	T	7: 81,086,018 (GRCm39)	D41E	possibly damaging	Het
Csf2rb2	C	G	15: 78,175,902 (GRCm39)	C184S	probably damaging	Het
Ctsc	G	A	7: 87,927,583 (GRCm39)		probably null	Het
Cyp2c40	G	A	19: 39,792,300 (GRCm39)	S191L	probably damaging	Het
Dagla	T	C	19: 10,225,641 (GRCm39)	E841G	probably damaging	Het
Dld	A	T	12: 31,383,944 (GRCm39)	Y386*	probably null	Het
Dpp8	G	A	9: 64,973,678 (GRCm39)	S634N	probably benign	Het
Duox2	A	T	2: 122,120,038 (GRCm39)	V824E	probably damaging	Het
Dync2h1	A	C	9: 7,011,290 (GRCm39)	S3634R	probably benign	Het
Fcrl5	T	A	3: 87,355,733 (GRCm39)	I482N	probably damaging	Het
Fezf1	A	T	6: 23,247,857 (GRCm39)	C73S	possibly damaging	Het
Fgfr1	A	G	8: 26,047,813 (GRCm39)	D53G	probably benign	Het
Fmn1	T	C	2: 113,195,494 (GRCm39)	L398S	unknown	Het
Gm17175	T	C	14: 51,809,042 (GRCm39)	Q108R	probably benign	Het
Gm28042	G	A	2: 119,871,639 (GRCm39)	G669D	probably damaging	Het
Gm6185	A	G	1: 161,050,669 (GRCm39)		noncoding transcript	Het
Gucy2g	A	T	19: 55,190,579 (GRCm39)	C1018*	probably null	Het
H2-Q10	A	T	17: 35,784,917 (GRCm39)		probably benign	Het
H2-T22	T	G	17: 36,351,429 (GRCm39)	Q267P	probably benign	Het
Hibadh	A	G	6: 52,523,915 (GRCm39)	Y328H	possibly damaging	Het
Hsd3b3	T	A	3: 98,649,396 (GRCm39)	Y309F	probably benign	Het
Ighv1-37	C	T	12: 114,859,863 (GRCm39)	A116T	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Igkv8-21	A	T	6: 70,292,141 (GRCm39)	S34T	probably benign	Het
Insyn1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,406,715 (GRCm39)		probably benign	Het
Iqch	A	G	9: 63,389,863 (GRCm39)	M733T	probably benign	Het
Jakmip2	T	A	18: 43,695,657 (GRCm39)	D539V	probably damaging	Het
Lgi2	A	G	5: 52,695,775 (GRCm39)	S395P	probably damaging	Het
Lrrc40	A	T	3: 157,760,271 (GRCm39)	N344I	probably damaging	Het
Ltbp1	G	A	17: 75,596,989 (GRCm39)		probably benign	Het
Metap1d	C	T	2: 71,355,292 (GRCm39)	P332L	probably benign	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mis18bp1	T	A	12: 65,200,303 (GRCm39)		probably benign	Het
Mta2	T	C	19: 8,925,492 (GRCm39)		probably null	Het
Mtmr4	T	C	11: 87,501,761 (GRCm39)	L548S	probably damaging	Het
Muc4	A	G	16: 32,577,432 (GRCm39)	K241E	probably benign	Het
Mup18	T	A	4: 61,590,154 (GRCm39)	I125F	possibly damaging	Het
Nfs1	A	G	2: 155,985,970 (GRCm39)	S31P	probably benign	Het
Or10g6	T	A	9: 39,934,255 (GRCm39)	C189S	probably damaging	Het
Or10z1	A	G	1: 174,078,188 (GRCm39)	F102L	possibly damaging	Het
Or2f1b	G	T	6: 42,739,352 (GRCm39)	R122L	probably benign	Het
Otogl	A	T	10: 107,727,985 (GRCm39)	C245*	probably null	Het
Pcdhb16	G	A	18: 37,613,398 (GRCm39)	G786D	probably benign	Het
Pdcd5	C	T	7: 35,346,472 (GRCm39)		probably benign	Het
Phkg2	C	T	7: 127,176,792 (GRCm39)	R61W	probably damaging	Het
Piezo1	A	T	8: 123,213,150 (GRCm39)	I1871N	probably benign	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Plxnd1	T	C	6: 115,949,486 (GRCm39)	T767A	possibly damaging	Het
Polr3c	T	G	3: 96,623,787 (GRCm39)	I322L	probably benign	Het
Ppp1r26	C	A	2: 28,340,860 (GRCm39)	H163Q	probably benign	Het
Prox1	T	G	1: 189,894,205 (GRCm39)	Y80S	probably damaging	Het
Pygl	T	C	12: 70,257,753 (GRCm39)		probably null	Het
Rab23	T	C	1: 33,778,466 (GRCm39)	V236A	probably benign	Het
Setd2	T	C	9: 110,398,881 (GRCm39)		probably null	Het
Slc5a7	A	G	17: 54,583,587 (GRCm39)	S568P	probably benign	Het
Smpd3	A	G	8: 106,986,371 (GRCm39)	L477P	probably damaging	Het
Spg21	A	G	9: 65,387,671 (GRCm39)		probably null	Het
Spta1	A	T	1: 174,020,543 (GRCm39)	I551F	probably damaging	Het
Supt5	A	T	7: 28,025,397 (GRCm39)	I135N	possibly damaging	Het
Tacstd2	A	G	6: 67,512,170 (GRCm39)	F174S	probably damaging	Het
Tas1r2	A	T	4: 139,387,098 (GRCm39)	T186S	probably damaging	Het
Tie1	A	G	4: 118,336,248 (GRCm39)	Y673H	probably damaging	Het
Tom1l1	A	T	11: 90,561,952 (GRCm39)	N190K	probably damaging	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Tox4	C	T	14: 52,524,924 (GRCm39)	T249I	probably damaging	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Vmn1r49	A	G	6: 90,049,534 (GRCm39)	V156A	probably benign	Het
Vmn2r13	A	T	5: 109,323,065 (GRCm39)	F75I	probably benign	Het
Washc2	T	A	6: 116,215,135 (GRCm39)	S502T	possibly damaging	Het
Wnk4	A	T	11: 101,164,937 (GRCm39)	E755D	probably benign	Het
Zfp207	T	A	11: 80,286,016 (GRCm39)		probably benign	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het

Other mutations in Eef1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02066:Eef1d	APN	15	75,768,704 (GRCm39)	missense	probably benign	0.10
IGL02265:Eef1d	APN	15	75,775,283 (GRCm39)	missense	probably benign	0.00
IGL02609:Eef1d	APN	15	75,768,162 (GRCm39)	missense	probably null	1.00
IGL02671:Eef1d	APN	15	75,767,654 (GRCm39)	missense	probably damaging	1.00
IGL02728:Eef1d	APN	15	75,774,945 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Eef1d	UTSW	15	75,775,581 (GRCm39)	missense	probably benign	0.01
R0034:Eef1d	UTSW	15	75,774,808 (GRCm39)	missense	probably benign
R0523:Eef1d	UTSW	15	75,775,005 (GRCm39)	missense	probably benign
R0831:Eef1d	UTSW	15	75,768,655 (GRCm39)	unclassified	probably benign
R1164:Eef1d	UTSW	15	75,774,526 (GRCm39)	critical splice donor site	probably null
R1467:Eef1d	UTSW	15	75,767,770 (GRCm39)	missense	probably damaging	1.00
R1467:Eef1d	UTSW	15	75,767,770 (GRCm39)	missense	probably damaging	1.00
R1594:Eef1d	UTSW	15	75,768,195 (GRCm39)	missense	probably damaging	1.00
R1796:Eef1d	UTSW	15	75,773,024 (GRCm39)	missense	probably damaging	1.00
R2039:Eef1d	UTSW	15	75,767,618 (GRCm39)	missense	probably damaging	1.00
R2093:Eef1d	UTSW	15	75,774,550 (GRCm39)	missense	probably benign	0.00
R2119:Eef1d	UTSW	15	75,775,062 (GRCm39)	missense	probably benign	0.43
R2372:Eef1d	UTSW	15	75,768,166 (GRCm39)	missense	probably damaging	1.00
R4401:Eef1d	UTSW	15	75,774,769 (GRCm39)	missense	probably benign
R4403:Eef1d	UTSW	15	75,774,769 (GRCm39)	missense	probably benign
R4425:Eef1d	UTSW	15	75,774,648 (GRCm39)	missense	possibly damaging	0.92
R4791:Eef1d	UTSW	15	75,775,531 (GRCm39)	missense	possibly damaging	0.85
R4864:Eef1d	UTSW	15	75,775,255 (GRCm39)	missense	possibly damaging	0.73
R5376:Eef1d	UTSW	15	75,775,038 (GRCm39)	missense	probably benign	0.25
R5377:Eef1d	UTSW	15	75,775,038 (GRCm39)	missense	probably benign	0.25
R5415:Eef1d	UTSW	15	75,775,030 (GRCm39)	missense	probably benign	0.00
R6966:Eef1d	UTSW	15	75,775,558 (GRCm39)	missense	probably benign	0.06
R7640:Eef1d	UTSW	15	75,774,556 (GRCm39)	missense	probably damaging	1.00
R8210:Eef1d	UTSW	15	75,768,309 (GRCm39)	missense	probably damaging	1.00
R8988:Eef1d	UTSW	15	75,768,160 (GRCm39)	missense	probably damaging	1.00
R9316:Eef1d	UTSW	15	75,781,130 (GRCm39)	unclassified	probably benign
Z1177:Eef1d	UTSW	15	75,774,727 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CTTTCTGCCTGGTCGAAGAGTG -3'
(R):5'- TAATGCTGCGCCCGAAGATG -3'

Sequencing Primer
(F):5'- CGAAGAGTGGCTTGTCTAACCATAC -3'
(R):5'- AAGGCCTCTTGTGCACTG -3'

Posted On

2015-09-25