Mutagenetix > Incidental Mutation

Incidental Mutation 'R3688:Efl1'

269618

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GPTase 1

Synonyms

6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R3688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82762970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 856 (S856T)

Ref Sequence

ENSEMBL: ENSMUSP00000137061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039881] [ENSMUST00000179489]

AlphaFold

Q8C0D5

Predicted Effect

probably benign
Transcript: ENSMUST00000039881
AA Change: S856T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: S856T

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	17	365	7.4e-62	PFAM
low complexity region	435	451	N/A	INTRINSIC
Pfam:EFG_II	614	687	4.3e-9	PFAM
EFG_C	986	1075	1.03e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179489
AA Change: S856T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: S856T

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	17	364	8.7e-58	PFAM
low complexity region	435	451	N/A	INTRINSIC
Pfam:GTP_EFTU_D2	504	599	1e-7	PFAM
Pfam:EFG_II	614	687	1.8e-9	PFAM
EFG_C	986	1075	1.03e-12	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit late-onset and progressive gait abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,267,849	I687T	possibly damaging	Het
7420426K07Rik	A	T	9: 98,903,464	M61L	probably benign	Het
A1cf	T	A	19: 31,911,169	F100I	probably damaging	Het
Adam12	A	T	7: 133,964,796	Y308*	probably null	Het
Adam3	T	C	8: 24,703,848	T383A	probably benign	Het
Adcy8	T	C	15: 64,871,707	T351A	probably damaging	Het
Atp11c	T	C	X: 60,281,644	Y431C	probably benign	Het
Atp7b	T	C	8: 22,004,230	H956R	probably damaging	Het
Bptf	C	A	11: 107,074,198	R1275L	probably benign	Het
Cept1	G	T	3: 106,520,015	N236K	probably benign	Het
Col15a1	C	T	4: 47,258,689	T360I	probably benign	Het
Efcab6	G	A	15: 83,871,278	Q1323*	probably null	Het
Eftud2	T	C	11: 102,844,201	E624G	probably damaging	Het
Fat2	T	C	11: 55,281,101	T2929A	probably damaging	Het
Gm4884	A	G	7: 41,043,486	H293R	possibly damaging	Het
Hdac10	C	T	15: 89,123,564		probably null	Het
Il17rd	C	A	14: 27,039,148	N15K	probably null	Het
Kcnt1	C	T	2: 25,894,359	T258I	probably damaging	Het
Kif5a	T	G	10: 127,242,774	N334T	probably damaging	Het
Ksr2	A	G	5: 117,554,979	Q164R	probably damaging	Het
Map4k4	T	A	1: 39,985,171		probably null	Het
Nat6	T	C	9: 107,583,350	V148A	possibly damaging	Het
Olfr459	G	T	6: 41,772,226	Y24*	probably null	Het
Pard3b	A	G	1: 62,479,569	T938A	probably benign	Het
Pcdhga6	T	A	18: 37,708,541	I438N	probably damaging	Het
Pfkm	T	A	15: 98,131,517	N697K	probably benign	Het
Pus10	T	C	11: 23,667,334	F16L	probably benign	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rangap1	A	T	15: 81,718,762	M154K	possibly damaging	Het
Slc25a17	A	G	15: 81,327,284	F177S	probably benign	Het
Slc34a2	G	A	5: 53,064,832	G289S	probably benign	Het
Strn4	A	G	7: 16,822,581	Y123C	probably damaging	Het
Swt1	A	T	1: 151,391,489	M647K	probably damaging	Het
Trpm5	A	G	7: 143,078,456	V872A	probably damaging	Het
Ubqln4	T	C	3: 88,563,159	S313P	probably damaging	Het
Vmn1r17	T	A	6: 57,360,559	T225S	probably damaging	Het
Vmn2r75	T	A	7: 86,148,421	H728L	probably damaging	Het
Vps33a	T	C	5: 123,535,211		probably null	Het
Vwde	T	A	6: 13,186,892	R865S	probably damaging	Het
Zfp408	T	A	2: 91,646,432	M126L	probably benign	Het

Other mutations in Efl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00541:Efl1	APN	7	82658111	missense	probably damaging	1.00
IGL00696:Efl1	APN	7	82651872	splice site	probably benign
IGL01344:Efl1	APN	7	82681480	splice site	probably benign
IGL01871:Efl1	APN	7	82763319	missense	possibly damaging	0.64
IGL01941:Efl1	APN	7	82697976	missense	probably benign	0.17
IGL02104:Efl1	APN	7	82658055	critical splice acceptor site	probably null
IGL02150:Efl1	APN	7	82686691	missense	probably benign
IGL02484:Efl1	APN	7	82683039	missense	probably damaging	0.98
IGL03140:Efl1	APN	7	82692881	missense	probably benign	0.00
IGL03188:Efl1	APN	7	82671701	missense	probably damaging	1.00
IGL03014:Efl1	UTSW	7	82651886	missense	probably damaging	1.00
PIT4469001:Efl1	UTSW	7	82658165	missense	probably benign	0.14
R0148:Efl1	UTSW	7	82671670	missense	probably damaging	1.00
R0226:Efl1	UTSW	7	82693011	splice site	probably benign
R0638:Efl1	UTSW	7	82651887	missense	probably damaging	1.00
R0684:Efl1	UTSW	7	82651886	missense	probably damaging	1.00
R1018:Efl1	UTSW	7	82763013	missense	possibly damaging	0.94
R1290:Efl1	UTSW	7	82671728	missense	probably damaging	1.00
R1720:Efl1	UTSW	7	82683721	missense	possibly damaging	0.50
R1933:Efl1	UTSW	7	82763117	nonsense	probably null
R1973:Efl1	UTSW	7	82762877	missense	probably damaging	1.00
R2016:Efl1	UTSW	7	82753709	missense	probably damaging	1.00
R2124:Efl1	UTSW	7	82692913	missense	probably damaging	1.00
R2290:Efl1	UTSW	7	82777670	missense	probably damaging	1.00
R2415:Efl1	UTSW	7	82697967	missense	probably damaging	1.00
R3545:Efl1	UTSW	7	82762810	missense	probably benign	0.00
R4092:Efl1	UTSW	7	82762827	missense	probably benign	0.00
R4207:Efl1	UTSW	7	82750816	missense	probably damaging	0.98
R4347:Efl1	UTSW	7	82697966	missense	probably damaging	1.00
R4425:Efl1	UTSW	7	82763283	missense	probably damaging	0.99
R4816:Efl1	UTSW	7	82671719	missense	probably damaging	1.00
R4858:Efl1	UTSW	7	82671627	missense	probably damaging	1.00
R5077:Efl1	UTSW	7	82658087	missense	probably damaging	1.00
R5185:Efl1	UTSW	7	82772499	missense	probably damaging	1.00
R5319:Efl1	UTSW	7	82674506	missense	probably damaging	1.00
R5771:Efl1	UTSW	7	82692524	missense	probably benign	0.26
R5857:Efl1	UTSW	7	82763189	missense	probably benign
R5956:Efl1	UTSW	7	82651899	missense	probably damaging	1.00
R6433:Efl1	UTSW	7	82674568	missense	probably damaging	1.00
R7131:Efl1	UTSW	7	82658064	missense	probably damaging	1.00
R7143:Efl1	UTSW	7	82762680	missense	probably damaging	1.00
R7312:Efl1	UTSW	7	82681444	missense	probably benign	0.10
R7409:Efl1	UTSW	7	82697913	missense	probably damaging	0.98
R7422:Efl1	UTSW	7	82681379	missense	probably damaging	1.00
R7453:Efl1	UTSW	7	82681467	missense	possibly damaging	0.76
R7504:Efl1	UTSW	7	82683049	missense	probably damaging	1.00
R7884:Efl1	UTSW	7	82658099	missense	probably damaging	1.00
R7969:Efl1	UTSW	7	82692970	missense	probably benign	0.03
R8394:Efl1	UTSW	7	82762778	missense	probably benign	0.00
R8702:Efl1	UTSW	7	82750790	critical splice acceptor site	probably null
R8924:Efl1	UTSW	7	82762953	missense	probably benign	0.03
R9463:Efl1	UTSW	7	82777525	missense	probably damaging	1.00
R9762:Efl1	UTSW	7	82763388	missense	probably benign	0.09
Z1088:Efl1	UTSW	7	82692850	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATCCTCCTTGAACGAGGGTAG -3'
(R):5'- ACTGACCTTGGTGCTGTTTATC -3'

Sequencing Primer
(F):5'- TCCTCCTTGAACGAGGGTAGAAATAC -3'
(R):5'- GACCTTGGTGCTGTTTATCACTTGC -3'

Posted On

2015-02-19