Mutagenetix > Incidental Mutation

Incidental Mutation 'R4858:Efl1'

372225

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GPTase 1

Synonyms

6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1

MMRRC Submission

042469-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.849) question?

Stock #

R4858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82671627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 89 (N89K)

Ref Sequence

ENSEMBL: ENSMUSP00000137061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039881] [ENSMUST00000141726] [ENSMUST00000179489]

AlphaFold

Q8C0D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039881
AA Change: N89K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: N89K

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: ENSMUST00000141726
AA Change: N89K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121909
Gene: ENSMUSG00000038563
AA Change: N89K

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: ENSMUST00000153265

Predicted Effect

probably damaging
Transcript: ENSMUST00000179489
AA Change: N89K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: N89K

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

Meta Mutation Damage Score

0.7736

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

94% (103/109)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,349,577	Y1415C	probably damaging	Het
Adgrf1	T	C	17: 43,303,672	S216P	probably damaging	Het
Ankrd12	T	C	17: 66,031,433	D197G	probably damaging	Het
Aoc3	C	A	11: 101,331,662	H198Q	probably damaging	Het
Aox1	C	A	1: 58,104,481	H1253N	probably benign	Het
Arg1	T	A	10: 24,922,638	E38V	possibly damaging	Het
Baz2b	T	A	2: 59,907,743	M1741L	probably benign	Het
Bend4	T	C	5: 67,417,572	E322G	probably damaging	Het
Brpf1	T	C	6: 113,317,678	V661A	possibly damaging	Het
C2cd3	A	T	7: 100,454,953	T2058S	probably damaging	Het
Camk4	T	C	18: 33,176,213	V223A	probably damaging	Het
Casp1	C	T	9: 5,306,742	R395C	probably damaging	Het
Ccdc180	T	G	4: 45,923,244	I1066S	probably damaging	Het
Ccne1	A	G	7: 38,099,319	F292L	probably damaging	Het
Ccz1	A	T	5: 144,012,810	M100K	probably damaging	Het
Cep128	T	C	12: 91,260,162	T678A	probably benign	Het
Cep290	G	A	10: 100,494,911	R151Q	probably benign	Het
Crip3	A	G	17: 46,430,747		probably benign	Het
Ddx60	A	G	8: 62,021,314	M1479V	possibly damaging	Het
Defb40	T	A	8: 18,975,077	I38F	probably benign	Het
Diexf	A	G	1: 193,113,764	Y686H	probably damaging	Het
Dnajb2	C	T	1: 75,243,554	T221I	possibly damaging	Het
Dpcr1	G	A	17: 35,637,576	T377I	possibly damaging	Het
Dpysl3	T	C	18: 43,334,014	I279V	probably damaging	Het
Echs1	G	A	7: 140,112,586		probably benign	Het
Extl3	T	C	14: 65,075,994	T580A	probably benign	Het
Fam171a2	C	T	11: 102,440,156	G193E	probably damaging	Het
Fam234a	A	T	17: 26,216,617	D264E	probably benign	Het
Fbxw20	A	T	9: 109,234,695	V3D	possibly damaging	Het
Fig4	G	A	10: 41,233,590	P637L	probably benign	Het
Fnbp1l	G	A	3: 122,546,315	T496I	probably benign	Het
Fry	T	C	5: 150,401,643	V1175A	possibly damaging	Het
Gm5617	C	T	9: 48,495,668	A34V	possibly damaging	Het
Gnai1	A	T	5: 18,291,598	V109E	probably benign	Het
H2-K1	A	T	17: 33,997,324	Y283N	probably benign	Het
Hectd2	A	T	19: 36,605,282	I471F	probably damaging	Het
Hsdl2	T	C	4: 59,612,812		probably null	Het
Igkv3-1	T	C	6: 70,704,044	S76P	probably damaging	Het
Krt15	A	T	11: 100,132,071	S439R	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Lima1	G	A	15: 99,819,576	T23I	probably benign	Het
Map4k1	C	A	7: 28,988,770	H248Q	probably damaging	Het
Mcf2l	C	A	8: 13,013,972	T1004K	probably damaging	Het
Micall1	T	A	15: 79,122,946		probably benign	Het
Ms4a14	A	G	19: 11,301,612	I1194T	probably benign	Het
Mtor	T	C	4: 148,454,816	*257Q	probably null	Het
Ncan	T	A	8: 70,104,055	T961S	probably benign	Het
Olfr1100	T	G	2: 86,978,349	Y149S	probably damaging	Het
Olfr161	T	C	16: 3,592,842	S149P	probably damaging	Het
Olfr311	T	A	11: 58,841,207	L31H	possibly damaging	Het
Olfr331	T	A	11: 58,501,909	I216F	probably damaging	Het
Olfr389	T	A	11: 73,776,546	L260F	probably benign	Het
Olfr419	A	T	1: 174,250,696	I77N	probably damaging	Het
Pcdhgb2	A	G	18: 37,692,100	R715G	probably benign	Het
Pik3c3	T	C	18: 30,344,078		probably null	Het
Pkhd1l1	A	T	15: 44,491,101	D296V	probably damaging	Het
Plekhh2	A	G	17: 84,600,697	I1189V	probably damaging	Het
Psg18	A	T	7: 18,353,484	L83Q	possibly damaging	Het
Rps6kc1	A	G	1: 190,800,318	W496R	probably damaging	Het
Setd5	C	T	6: 113,149,566	T1188I	probably damaging	Het
Slc4a3	T	C	1: 75,555,085	F899L	probably damaging	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Speg	G	T	1: 75,421,735	R1942L	probably damaging	Het
Sulf2	C	A	2: 166,081,604	R565L	probably benign	Het
Tcerg1	T	C	18: 42,523,981	M176T	unknown	Het
Tfcp2l1	T	C	1: 118,669,509	I440T	possibly damaging	Het
Tgm7	A	T	2: 121,098,964		probably null	Het
Tjp2	C	A	19: 24,122,120	G433V	probably damaging	Het
Tldc1	T	G	8: 119,772,523	T77P	probably benign	Het
Tmc7	C	T	7: 118,543,342	G608R	probably damaging	Het
Tmed4	A	G	11: 6,274,456	F68S	possibly damaging	Het
Tmem30b	G	A	12: 73,545,912	P143L	probably damaging	Het
Tnfrsf23	C	T	7: 143,681,480	C49Y	probably damaging	Het
Tnni3k	A	T	3: 154,786,808		probably null	Het
Trav12-2	G	T	14: 53,616,693	M41I	probably benign	Het
Trim6	T	A	7: 104,232,485	Y314*	probably null	Het
Ttc25	A	G	11: 100,550,321	N126S	probably damaging	Het
Vmn2r118	A	G	17: 55,592,894	V670A	probably damaging	Het
Zfp438	A	T	18: 5,213,154	D601E	probably benign	Het
Zfp606	T	A	7: 12,493,056	I310N	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
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
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'- GCATTAAAAGTCTTTTCTGCGGTAC -3'
(R):5'- ACAGAGCAATCAACAGTGGC -3'

Sequencing Primer
(F):5'- TGCGGTACCAGGCATACTCTAAG -3'
(R):5'- ATCAACAGTGGCTGCACTTG -3'

Posted On

2016-03-01