Mutagenetix > Incidental Mutation

Incidental Mutation 'R5956:Efl1'

471188

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GPTase 1

Synonyms

6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1

MMRRC Submission

044144-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.849) question?

Stock #

R5956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82651899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 37 (D37G)

Ref Sequence

ENSEMBL: ENSMUSP00000146350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039881] [ENSMUST00000056728] [ENSMUST00000126478] [ENSMUST00000141726] [ENSMUST00000179489] [ENSMUST00000207693] [ENSMUST00000207868]

AlphaFold

Q8C0D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039881
AA Change: D37G

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

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: D37G

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: ENSMUST00000056728

SMART Domains

Protein: ENSMUSP00000057993
Gene: ENSMUSG00000038570

Domain	Start	End	E-Value	Type
Pfam:STOP	4	201	3.6e-42	PFAM
Pfam:STOP	237	390	4.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125245

Predicted Effect

probably benign
Transcript: ENSMUST00000126478

Predicted Effect

probably damaging
Transcript: ENSMUST00000141726
AA Change: D37G

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

SMART Domains

Protein: ENSMUSP00000121909
Gene: ENSMUSG00000038563
AA Change: D37G

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	17	222	2.3e-57	PFAM
Pfam:MMR_HSR1	21	147	2e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156720

Predicted Effect

probably damaging
Transcript: ENSMUST00000179489
AA Change: D37G

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

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: D37G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207693

Predicted Effect

probably damaging
Transcript: ENSMUST00000207868
AA Change: D37G

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

Meta Mutation Damage Score

0.9378

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (63/64)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,157,119	I398K	possibly damaging	Het
A530099J19Rik	T	G	13: 19,729,130		noncoding transcript	Het
Acad9	A	G	3: 36,075,174		probably benign	Het
Acsm2	T	C	7: 119,554,481	S5P	unknown	Het
Akp3	T	C	1: 87,126,945	I334T	probably damaging	Het
Amy1	C	T	3: 113,563,662	R176H	probably benign	Het
Ank2	A	T	3: 126,942,688		probably benign	Het
Cav1	C	A	6: 17,307,919	N23K	probably damaging	Het
Cep126	A	G	9: 8,112,119	V151A	probably benign	Het
Cnot1	A	G	8: 95,754,978		probably null	Het
Crim1	T	A	17: 78,315,717	V448E	probably damaging	Het
Csmd3	T	C	15: 48,791,882	E8G	possibly damaging	Het
Ddx31	A	T	2: 28,874,173	I464F	probably damaging	Het
Ddx54	A	G	5: 120,626,367		probably benign	Het
Dhx16	A	G	17: 35,882,870	E319G	probably damaging	Het
Epha5	T	C	5: 84,150,369	R444G	probably damaging	Het
Exoc2	C	A	13: 30,820,623	C859F	probably benign	Het
Gbx2	T	C	1: 89,933,186		probably benign	Het
Gm12258	G	A	11: 58,859,459	A9T	probably benign	Het
Gm1966	T	C	7: 106,601,470		noncoding transcript	Het
Grm4	A	G	17: 27,435,155	V607A	probably benign	Het
Ighv1-74	C	A	12: 115,802,835	W55L	probably damaging	Het
Irx4	C	A	13: 73,267,507	Y138*	probably null	Het
Itpr1	C	A	6: 108,506,027	T2352K	probably benign	Het
Kcnk3	T	G	5: 30,588,510	V65G	probably damaging	Het
Mctp2	T	C	7: 72,259,175	E130G	probably benign	Het
Mgat5	C	A	1: 127,382,939	R197S	probably benign	Het
Mpg	T	C	11: 32,227,951		probably null	Het
Muc5b	T	C	7: 141,864,173	C3619R	probably damaging	Het
Myo15b	G	A	11: 115,873,757	V1321I	probably benign	Het
Myo1b	T	C	1: 51,776,232	T658A	probably damaging	Het
Nomo1	T	C	7: 46,042,613	S154P	possibly damaging	Het
Nsd1	T	A	13: 55,263,404	F1423I	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1012	A	G	2: 85,753,839		probably benign	Het
Osbpl6	A	G	2: 76,549,512	R149G	probably damaging	Het
Papola	T	A	12: 105,811,041	W281R	probably damaging	Het
Pole	C	T	5: 110,337,287		probably benign	Het
Rptn	A	G	3: 93,398,027	N889S	possibly damaging	Het
Scn10a	A	G	9: 119,631,560	S1084P	probably damaging	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sertad2	G	A	11: 20,647,884	G27S	probably benign	Het
Siglece	T	C	7: 43,659,336	T198A	probably damaging	Het
Sptb	T	A	12: 76,604,168	M1678L	probably benign	Het
Taf8	A	T	17: 47,498,542	M98K	probably damaging	Het
Tead2	T	A	7: 45,220,714		probably benign	Het
Tmem206	A	G	1: 191,348,371	S263G	probably damaging	Het
Trrap	C	T	5: 144,807,391		silent	Het
Ttn	G	T	2: 76,945,570	N1709K	probably damaging	Het
Ube3a	T	C	7: 59,277,020		probably benign	Het
Ube3c	T	C	5: 29,599,056		probably benign	Het
Unc80	T	C	1: 66,527,964	S910P	probably damaging	Het
Usp30	G	A	5: 114,119,621	R280Q	possibly damaging	Het
Vsx1	T	C	2: 150,688,537	S142G	possibly damaging	Het
Wdr95	T	G	5: 149,594,482	C360G	probably benign	Het
Zbtb4	A	G	11: 69,778,214	I588V	probably benign	Het
Zdhhc4	A	T	5: 143,324,849		probably benign	Het
Zfp568	C	A	7: 29,997,863	N69K	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
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'- ACTCTGTAAAGTCTGTCCCATC -3'
(R):5'- TGCAACAGAACGCAATATGG -3'

Sequencing Primer
(F):5'- TCTGTAAAGTCTGTCCCATCTTAAG -3'
(R):5'- AACTTAATGGGTTGTCAGTCCC -3'

Posted On

2017-03-31