Mutagenetix > Incidental Mutation

Incidental Mutation 'R2124:Efl1'

229661

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GPTase 1

Synonyms

6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1

MMRRC Submission

040127-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R2124 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82692913 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 510 (R510C)

Ref Sequence

ENSEMBL: ENSMUSP00000137061 (fasta)

Gene Model

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

AlphaFold

Q8C0D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039881
AA Change: R510C

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

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: R510C

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

noncoding transcript
Transcript: ENSMUST00000125245

Predicted Effect

probably damaging
Transcript: ENSMUST00000179489
AA Change: R510C

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

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: R510C

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

noncoding transcript
Transcript: ENSMUST00000209142

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (80/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,538,872	L143M	possibly damaging	Het
Abca13	T	C	11: 9,309,013		probably benign	Het
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Adgrg6	T	C	10: 14,467,186	D339G	probably damaging	Het
Ahctf1	C	A	1: 179,769,452	R43L	probably damaging	Het
Ambn	T	A	5: 88,460,758		probably benign	Het
Arap3	A	C	18: 37,973,350	L1480R	probably damaging	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Aspg	G	A	12: 112,121,174	V8I	probably benign	Het
Aven	T	A	2: 112,625,196	W26R	probably damaging	Het
Car4	T	A	11: 84,964,085		probably benign	Het
Cd163	C	T	6: 124,318,856	R720C	probably damaging	Het
Cdh1	A	G	8: 106,664,210	I653V	probably benign	Het
Cdh3	A	T	8: 106,552,888	H712L	probably damaging	Het
Cdr2	T	C	7: 120,982,027	E9G	probably damaging	Het
Chrnb2	T	C	3: 89,769,341		probably benign	Het
Col4a2	C	A	8: 11,416,070	P443Q	probably damaging	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Ddias	T	C	7: 92,858,256	Q817R	probably benign	Het
Ddx6	C	T	9: 44,624,519	Q182*	probably null	Het
Dhrs7	A	G	12: 72,653,177	I227T	probably damaging	Het
Dhx8	A	T	11: 101,762,245	M970L	probably damaging	Het
Dnah7a	A	T	1: 53,496,942	D2647E	possibly damaging	Het
Dstyk	G	A	1: 132,453,119	G451R	possibly damaging	Het
Ednrb	T	A	14: 103,821,768	D274V	probably benign	Het
Eif4g3	A	G	4: 138,184,742	E1409G	probably damaging	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fcgbp	T	C	7: 28,092,019	Y902H	probably benign	Het
Fgf18	A	C	11: 33,118,003	F129C	probably damaging	Het
Gbp9	T	A	5: 105,094,543	D110V	probably damaging	Het
Gm10477	A	G	X: 56,524,832	K31E	probably damaging	Het
Gm10542	T	A	18: 44,201,288	W9R	probably null	Het
Gm7173	T	C	X: 79,510,321	I267V	probably benign	Het
Gpaa1	A	G	15: 76,333,352	Y330C	probably damaging	Het
Hectd4	T	C	5: 121,318,639	L689P	probably damaging	Het
Hoxd3	C	A	2: 74,744,234	P75T	possibly damaging	Het
Ikbkb	A	G	8: 22,666,020	L570P	probably damaging	Het
Ikbkb	T	C	8: 22,667,217		probably benign	Het
Il1rap	A	T	16: 26,710,565	H379L	probably damaging	Het
Ints6l	T	A	X: 56,504,868	S718T	probably benign	Het
Jaml	T	A	9: 45,101,064	I283N	probably damaging	Het
Kidins220	G	A	12: 25,041,303		probably null	Het
Kif1b	T	C	4: 149,222,296	D869G	probably benign	Het
Loxl2	T	C	14: 69,692,410	Y746H	probably benign	Het
Ltbr	A	G	6: 125,309,477	S249P	probably benign	Het
Mageb5	A	G	X: 91,780,095	I226T	probably damaging	Het
Msantd2	C	T	9: 37,522,931	R357W	probably damaging	Het
Neb	A	G	2: 52,264,064	F2345S	probably damaging	Het
Olfr866	T	G	9: 20,027,501	I146L	probably benign	Het
Pabpc4l	T	C	3: 46,446,841	T123A	probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 105,376,452		probably benign	Het
Prkdc	T	C	16: 15,719,433	V1716A	probably benign	Het
Prss37	G	A	6: 40,515,360	R186*	probably null	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Rasgrp2	T	A	19: 6,404,395	M156K	probably benign	Het
Rims1	T	A	1: 22,404,508	R200*	probably null	Het
Rnf168	T	G	16: 32,278,218	L37R	probably damaging	Het
Sall3	C	T	18: 80,971,797	G972D	probably benign	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Scamp5	C	A	9: 57,447,225	V49F	possibly damaging	Het
Sdk1	C	A	5: 142,185,188	D1935E	possibly damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Soga1	T	C	2: 157,033,325	E835G	probably damaging	Het
Syt16	T	A	12: 74,238,235	S401T	probably damaging	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tbcd	A	G	11: 121,603,320	Y983C	probably damaging	Het
Tenm3	A	G	8: 48,417,006		probably null	Het
Tll1	T	C	8: 64,085,557	E351G	probably benign	Het
Tmem44	T	A	16: 30,547,444	K55*	probably null	Het
Top2a	T	C	11: 99,004,228	I849V	probably benign	Het
Ttn	A	G	2: 76,794,448	V13516A	probably damaging	Het
Uxs1	A	G	1: 43,774,846	L77P	probably damaging	Het
Vmn2r121	A	T	X: 124,133,742		probably null	Het
Vmn2r84	A	C	10: 130,391,231	M246R	probably damaging	Het
Vps13b	T	A	15: 35,646,080	N1443K	probably benign	Het
Wfdc6b	C	T	2: 164,617,443	R142C	probably benign	Het
Zfp616	A	G	11: 74,083,043		probably null	Het
Zmym1	T	C	4: 127,049,570	T244A	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
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
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'- GCTTAACTTGGTACATTGTCCC -3'
(R):5'- TACCAAGGCAATGCAACAGG -3'

Sequencing Primer
(F):5'- TTATCAGACCAGATATTCATGTTCAC -3'
(R):5'- CACAGGAATTGGGGTATCTTTTAC -3'

Posted On

2014-09-17