Mutagenetix > Incidental Mutation

Incidental Mutation 'R5185:Efl1'

397815

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GPTase 1

Synonyms

6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1

MMRRC Submission

042764-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.849) question?

Stock #

R5185 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82772499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1018 (L1018P)

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: L1018P

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

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: L1018P

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: L1018P

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

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: L1018P

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

0.7819

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

95% (70/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	T	C	11: 94,562,911	Y408C	probably damaging	Het
Aox4	T	C	1: 58,254,318	L943S	probably damaging	Het
Ap1g1	G	A	8: 109,863,326		probably benign	Het
Arsb	T	C	13: 93,794,159	S212P	probably damaging	Het
Arsi	A	G	18: 60,916,912	N289S	probably damaging	Het
Atp6v1h	T	A	1: 5,095,642	F72I	probably damaging	Het
Atxn7	T	C	14: 14,090,063	I336T	probably benign	Het
Bak1	G	A	17: 27,022,748	P65L	possibly damaging	Het
Bcl6	A	T	16: 23,972,947	M219K	possibly damaging	Het
Brd3	T	C	2: 27,462,448	K157E	probably damaging	Het
Ccdc171	T	G	4: 83,663,655	S674A	possibly damaging	Het
Cfap43	A	G	19: 47,780,394	I737T	probably benign	Het
Cul9	A	T	17: 46,525,832	V1089D	possibly damaging	Het
Dffa	C	A	4: 149,117,430	A155E	probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Efcab12	T	A	6: 115,823,490	M191L	probably benign	Het
Fcho1	A	G	8: 71,714,956		probably benign	Het
Fndc3b	T	A	3: 27,457,070	T764S	probably benign	Het
Gm29125	T	C	1: 80,384,231		noncoding transcript	Het
Gm5108	A	G	5: 67,944,610		probably benign	Het
Gm9949	T	G	18: 62,180,565		probably benign	Het
Golgb1	T	C	16: 36,875,141		probably benign	Het
Gpd2	T	C	2: 57,340,204	Y323H	probably damaging	Het
Grip1	T	G	10: 119,931,259	D96E	probably benign	Het
Hmcn1	T	C	1: 150,656,741	I3132V	probably benign	Het
Hsd17b1	T	C	11: 101,080,198	W327R	possibly damaging	Het
Htra2	G	A	6: 83,054,242	P62L	probably benign	Het
Kdr	A	T	5: 75,952,417		probably null	Het
Kif14	T	A	1: 136,527,469	C1626*	probably null	Het
Kmt2a	A	T	9: 44,820,246		probably benign	Het
Krt15	T	C	11: 100,133,433	T321A	probably damaging	Het
Lactbl1	A	T	4: 136,631,045	H109L	probably benign	Het
Lilra6	T	A	7: 3,914,636	H120L	probably benign	Het
Lpcat2	G	A	8: 92,869,737	S134N	probably benign	Het
Mpp4	T	C	1: 59,125,583	D465G	probably benign	Het
Naip2	A	T	13: 100,189,351	D16E	probably damaging	Het
Nek5	C	T	8: 22,083,381	A520T	possibly damaging	Het
Nfatc2	A	G	2: 168,570,707	F132L	possibly damaging	Het
Nlrp3	C	A	11: 59,565,084	T902N	probably benign	Het
Olfr1097	T	C	2: 86,890,602	D191G	probably benign	Het
Olfr1230	A	T	2: 89,296,387	H294Q	probably benign	Het
Olfr149	A	T	9: 39,701,876	W298R	probably benign	Het
Olfr58	T	C	9: 19,783,376	M81T	probably damaging	Het
Pcdhb16	T	C	18: 37,480,089	S701P	possibly damaging	Het
Phf7	A	G	14: 31,248,037		probably null	Het
Plpp4	G	A	7: 129,316,304	V68M	probably damaging	Het
Pnma2	A	T	14: 66,916,129	M1L	possibly damaging	Het
Pnmal2	A	T	7: 16,945,976	D295V	probably damaging	Het
Rad21l	T	C	2: 151,657,462	D270G	probably benign	Het
Ralgapa2	C	A	2: 146,388,486		probably null	Het
Rasal3	A	T	17: 32,396,790	L334Q	probably damaging	Het
Rfx4	G	T	10: 84,863,250	R240L	probably damaging	Het
Rnf19b	T	A	4: 129,083,920	C642*	probably null	Het
Slc28a2	G	A	2: 122,458,194	E594K	probably benign	Het
Spata31	G	T	13: 64,917,526	W15L	possibly damaging	Het
Spink5	T	C	18: 44,015,644	S925P	probably damaging	Het
Svep1	C	T	4: 58,084,534	G1865S	probably damaging	Het
Tg	T	C	15: 66,773,474	L791P	probably damaging	Het
Thbs4	A	C	13: 92,775,167	V247G	probably damaging	Het
Tpcn2	A	T	7: 145,255,454	F705Y	probably damaging	Het
Try10	A	T	6: 41,356,549	H76L	probably damaging	Het
Ttn	C	T	2: 76,939,221	V2695I	probably damaging	Het
Tut1	C	A	19: 8,955,450	T49N	probably benign	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Xdh	G	A	17: 73,925,011	R235C	probably damaging	Het
Yipf4	A	G	17: 74,492,475	D70G	probably null	Het
Zfp108	G	T	7: 24,260,738	K251N	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
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
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'- GGGCACATTTTGGACTCTTG -3'
(R):5'- AACAGCCAGCTTCACGTAG -3'

Sequencing Primer
(F):5'- GGCACATTTTGGACTCTTGTTATC -3'
(R):5'- AGCTTCACGTAGCCTCTGC -3'

Posted On

2016-07-06