Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Efl1'

56814

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GPTase 1

Synonyms

6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1

MMRRC Submission

038827-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.849) question?

Stock #

R0638 (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 82651887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 33 (T33I)

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: T33I

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

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: T33I

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: T33I

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

SMART Domains

Protein: ENSMUSP00000121909
Gene: ENSMUSG00000038563
AA Change: T33I

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: T33I

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

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: T33I

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: T33I

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

Meta Mutation Damage Score

0.7694

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,200,418	E382G	probably damaging	Het
4932414N04Rik	C	A	2: 68,717,228	Q161K	probably benign	Het
Aatk	A	T	11: 120,009,922	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,503,671	F463L	possibly damaging	Het
Antxr2	C	T	5: 97,960,637	W338*	probably null	Het
Apc2	T	C	10: 80,304,967	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,308,188		probably null	Het
Arrdc5	A	G	17: 56,300,020	V75A	possibly damaging	Het
Atg16l2	A	T	7: 101,300,110		probably null	Het
Cacna1i	A	G	15: 80,381,080	N1511S	possibly damaging	Het
Cad	T	C	5: 31,077,688	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,128,437		probably benign	Het
Crybg2	A	G	4: 134,074,454	D975G	probably damaging	Het
Dagla	T	C	19: 10,254,883	I480V	probably damaging	Het
Esp36	A	G	17: 38,417,169	F74L	probably benign	Het
Faim	T	C	9: 98,992,096		probably benign	Het
Fam83h	G	T	15: 76,003,927	H520Q	probably benign	Het
Fbn2	A	T	18: 58,045,374	C1931S	probably damaging	Het
Frs3	A	G	17: 47,701,656	D96G	probably benign	Het
Gbp4	A	G	5: 105,121,840	M374T	probably damaging	Het
Gimap1	C	T	6: 48,741,425		probably benign	Het
Gm10010	A	G	6: 128,200,613		noncoding transcript	Het
Gm10355	T	C	3: 101,306,898		noncoding transcript	Het
Gmip	C	T	8: 69,811,445		probably benign	Het
Gpc2	A	T	5: 138,278,534	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,762,759	V45M	probably benign	Het
Il15	T	C	8: 82,343,261	E58G	probably damaging	Het
Kat2b	T	C	17: 53,644,743		probably benign	Het
Kcnh7	C	A	2: 62,777,510	V576L	probably benign	Het
Lrrc66	T	A	5: 73,615,473		probably benign	Het
Mical1	A	G	10: 41,482,239	E416G	probably benign	Het
Mroh3	A	G	1: 136,191,002	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,869,290		probably benign	Het
Naip6	A	T	13: 100,300,528	Y496N	probably benign	Het
Nfyc	A	G	4: 120,768,884	S73P	probably benign	Het
Olfr1418	C	T	19: 11,855,123	V277M	probably damaging	Het
Olfr1418	A	C	19: 11,855,368	V195G	probably damaging	Het
Olfr382	T	A	11: 73,516,924	I92F	probably damaging	Het
Olfr810	T	A	10: 129,791,232	D119V	probably damaging	Het
Olfr995	A	G	2: 85,438,501	I219T	probably benign	Het
P2ry14	A	G	3: 59,115,448	V206A	probably benign	Het
Polg	G	A	7: 79,460,148		probably benign	Het
Ptgs1	G	A	2: 36,240,856		probably benign	Het
Pus7l	A	G	15: 94,523,417	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,342,192	T1547A	probably benign	Het
Rif1	T	C	2: 52,111,588	S1685P	probably benign	Het
Rnf213	T	C	11: 119,470,210	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,756,521	D229G	probably benign	Het
Serpina3j	T	C	12: 104,314,819	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,213,244		probably benign	Het
Sorbs2	A	G	8: 45,796,310	D847G	probably damaging	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Steap4	T	C	5: 7,977,030		probably benign	Het
Tg	A	C	15: 66,717,208	T13P	probably damaging	Het
Timeless	T	A	10: 128,244,673	Y474*	probably null	Het
Tmem94	T	C	11: 115,792,060		probably null	Het
Trdmt1	G	A	2: 13,516,648		probably benign	Het
Trim23	T	C	13: 104,201,309	Y522H	probably benign	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Txnl1	A	G	18: 63,692,064		probably benign	Het
Unkl	T	C	17: 25,208,083		probably benign	Het
Usp54	T	A	14: 20,589,369		probably benign	Het
Vcam1	T	C	3: 116,117,259	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,072,666	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,608,466	K495E	probably benign	Het
Wrnip1	G	A	13: 32,821,090	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,933,547	R660G	probably benign	Het
Zfp280c	A	G	X: 48,548,703		probably benign	Het
Zfp707	G	A	15: 75,975,129	A291T	possibly 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
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
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'- AATGTCAGCCAGGGTCACACAC -3'
(R):5'- TGAAGACTTGCGATCATGGAACAGC -3'

Sequencing Primer
(F):5'- TGATGGTTTACCCAGAATGCC -3'
(R):5'- CGCAATATGGAAGTGAGCTTTTCTC -3'

Posted On

2013-07-11