Mutagenetix > Incidental Mutation

Incidental Mutation 'R9463:Efl1'

714997

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 #

R9463 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82777525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 1077 (T1077M)

Ref Sequence

ENSEMBL: ENSMUSP00000046046 (fasta)

Gene Model

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

AlphaFold

Q8C0D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039881
AA Change: T1077M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: T1077M

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 damaging
Transcript: ENSMUST00000179489
AA Change: T1077M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: T1077M

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	C	T	14: 8,256,789	E25K	probably damaging	Het
Acss2	A	G	2: 155,550,112	Y218C	probably benign	Het
Armc8	C	T	9: 99,496,150		probably null	Het
Aspg	G	A	12: 112,123,390	G454D	probably damaging	Het
Atp9b	T	C	18: 80,765,836	T623A		Het
BC055324	A	T	1: 163,968,338	M428K	probably benign	Het
Cacna1e	A	G	1: 154,481,665	L655P	probably damaging	Het
Cant1	T	A	11: 118,411,455	N12I	probably damaging	Het
Cep63	T	C	9: 102,598,183	T445A	probably benign	Het
Clstn1	A	T	4: 149,614,107	D50V	possibly damaging	Het
Cnnm2	T	A	19: 46,762,551	I260N	probably damaging	Het
Col4a4	T	C	1: 82,453,355	M1609V	unknown	Het
Dand5	A	T	8: 84,816,309	C179*	probably null	Het
Dbndd1	A	G	8: 123,506,808	L153P	probably damaging	Het
Dnhd1	A	G	7: 105,657,247	I437V	probably benign	Het
Dnhd1	T	A	7: 105,695,016	S1856T	probably benign	Het
Dpp8	T	A	9: 65,066,418	Y641*	probably null	Het
Dthd1	G	A	5: 62,882,283	R676H	probably benign	Het
Eif3e	G	T	15: 43,275,313	Q83K	probably benign	Het
Gfm2	G	A	13: 97,150,402	A170T	probably damaging	Het
Gm14496	T	A	2: 182,000,463	H642Q	probably benign	Het
Gmip	G	A	8: 69,817,043	R596Q	possibly damaging	Het
Hook1	A	T	4: 96,022,273	Q708L	probably damaging	Het
Krtap9-3	G	A	11: 99,597,700	R119C	unknown	Het
Lnpk	A	C	2: 74,551,059		probably null	Het
Lrp1	G	T	10: 127,593,465	Y484*	probably null	Het
Lrrc8e	C	T	8: 4,235,185	P470L	probably damaging	Het
Mapre1	A	G	2: 153,765,040	N231D	probably benign	Het
Muc5b	T	A	7: 141,851,766	N937K	unknown	Het
Ndufaf7	T	C	17: 78,946,471		probably null	Het
Nlrp5	A	T	7: 23,418,800	I650F	probably benign	Het
Notch1	T	C	2: 26,469,833	D1290G	probably benign	Het
Olfr845	C	T	9: 19,339,024	A188V	possibly damaging	Het
Olfr910	T	C	9: 38,539,369	I158T	probably damaging	Het
Orc4	C	T	2: 48,936,771		probably null	Het
Plekhm2	A	G	4: 141,630,638	V664A	probably benign	Het
Pom121l2	T	G	13: 21,984,232	I891S	probably benign	Het
Prkcsh	T	C	9: 22,012,686	Y425H	probably damaging	Het
Prps1l1	A	C	12: 34,985,560	T225P	probably damaging	Het
Prr18	T	G	17: 8,341,492	V160G	probably damaging	Het
Psd2	T	A	18: 36,010,745	F701L	probably damaging	Het
Sclt1	T	C	3: 41,647,496	E593G	probably damaging	Het
Sdk1	T	C	5: 141,962,793	I631T	probably benign	Het
Sirt1	A	T	10: 63,335,708	D231E	probably benign	Het
Slc22a30	C	T	19: 8,400,895	C139Y	probably damaging	Het
Sntg1	T	A	1: 8,554,750	N274I	probably damaging	Het
Spocd1	A	G	4: 129,953,605	Q529R		Het
Trbv3	T	A	6: 41,048,596	L40H	probably damaging	Het
Trpm6	T	C	19: 18,783,900		probably null	Het
Ttn	A	G	2: 76,748,175	Y24125H	probably damaging	Het
Tusc5	T	A	11: 76,680,272	L38Q	probably damaging	Het
Ush1g	C	A	11: 115,318,230	L379F	probably damaging	Het
Vipr1	G	A	9: 121,642,927		probably null	Het
Vmn2r73	A	T	7: 85,857,587	M839K		Het
Wee1	T	C	7: 110,122,710	S121P	probably damaging	Het
Zfp608	T	C	18: 54,897,202	K1222R	probably damaging	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
R3688:Efl1	UTSW	7	82762970	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
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'- GAGAACTCAGAATGACAGATGTTC -3'
(R):5'- CCACCAGCAGTAGTGACTTC -3'

Sequencing Primer
(F):5'- CTCAGAATGACAGATGTTCCAAATC -3'
(R):5'- CACCAGCAGTAGTGACTTCTTTTTAG -3'

Posted On

2022-06-15