Mutagenetix > Incidental Mutation

Incidental Mutation 'R9762:Efl1'

733074

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GPTase 1

Synonyms

6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

R9762 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 82763388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 995 (D995A)

Ref Sequence

ENSEMBL: ENSMUSP00000046046 (fasta)

Gene Model

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

AlphaFold

Q8C0D5

Predicted Effect

probably benign
Transcript: ENSMUST00000039881
AA Change: D995A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: D995A

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: ENSMUST00000179489
AA Change: D995A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: D995A

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	T	19: 57,037,259	R851S	probably damaging	Het
Acap2	C	A	16: 31,110,945	A407S	probably damaging	Het
Adam26a	A	T	8: 43,568,598	S618R	probably benign	Het
Adamtsl5	T	C	10: 80,345,062	Y89C	probably damaging	Het
Aebp2	T	A	6: 140,642,295	S364T	probably damaging	Het
Ankfy1	A	G	11: 72,730,575	E229G	probably benign	Het
Arhgap27	G	T	11: 103,360,685	D72E	probably benign	Het
Arhgap33	T	C	7: 30,531,525	E191G	probably null	Het
Atp6v0a1	C	T	11: 101,055,601	H807Y	possibly damaging	Het
C530008M17Rik	A	G	5: 76,858,708	K972R	unknown	Het
Ccdc113	A	C	8: 95,545,977	E237D	probably benign	Het
Cd200r2	T	A	16: 44,909,057	I25K	probably benign	Het
Cd300c2	A	G	11: 114,996,949	V209A	probably damaging	Het
Cdkn2d	T	A	9: 21,289,087	E129D	probably benign	Het
Chd9	A	T	8: 90,986,113	N855Y	unknown	Het
Cntn3	A	G	6: 102,277,235	C249R	probably damaging	Het
Col12a1	T	C	9: 79,619,984	E2688G	possibly damaging	Het
Copb2	C	T	9: 98,582,848	T612I	probably benign	Het
Cplx1	A	T	5: 108,525,512	D29E	possibly damaging	Het
Cstf3	A	T	2: 104,664,339	R645*	probably null	Het
Ctdp1	A	T	18: 80,449,335	Y648*	probably null	Het
Daam1	T	A	12: 71,944,081	D156E	unknown	Het
Dbn1	G	A	13: 55,475,011	P599L	probably damaging	Het
Diaph1	C	A	18: 37,854,536	V1056F	probably damaging	Het
Dzip3	A	T	16: 48,928,344	D870E	probably damaging	Het
Efcab12	T	C	6: 115,823,370	T231A	possibly damaging	Het
Fam186a	T	C	15: 99,944,512	T1284A	possibly damaging	Het
Fbxo33	T	C	12: 59,204,922	E269G	probably benign	Het
Foxj3	T	A	4: 119,626,343	M604K	unknown	Het
Gabra4	A	G	5: 71,657,120	S86P	unknown	Het
Gnas	G	A	2: 174,298,846	W269*	probably null	Het
Gpc6	T	G	14: 117,964,846	N489K	probably damaging	Het
Gprin3	T	C	6: 59,354,251	K357R	possibly damaging	Het
Grip1	G	T	10: 119,976,001	A286S	possibly damaging	Het
Grm4	A	T	17: 27,502,714	V151E	probably damaging	Het
Gucy1b1	A	T	3: 82,034,758	S565T	possibly damaging	Het
Hace1	T	C	10: 45,648,918	V260A	probably benign	Het
Hepacam2	A	G	6: 3,486,940	I139T	probably damaging	Het
Hspa4l	T	C	3: 40,772,625	I486T	probably benign	Het
Igkv8-19	T	C	6: 70,340,882	Y120C	probably damaging	Het
Iglv2	C	T	16: 19,260,798		probably benign	Het
Igsf10	A	T	3: 59,329,685	L1025H	probably damaging	Het
Itpkb	A	G	1: 180,334,187	N626S	probably benign	Het
Jarid2	C	T	13: 44,914,777	R1092W	possibly damaging	Het
Klc3	C	T	7: 19,398,098	W118*	probably null	Het
Klhl25	C	T	7: 75,866,993	T549I	probably damaging	Het
Krtap6-2	T	A	16: 89,419,875	Y68F	unknown	Het
Mtcl1	T	C	17: 66,366,352	N1121D	probably benign	Het
Ncbp3	A	G	11: 73,070,842	K314R	probably benign	Het
Nop2	T	C	6: 125,144,309	W685R	probably benign	Het
Orc1	T	A	4: 108,590,677	D40E	probably benign	Het
Pappa2	G	T	1: 158,857,378	N730K	probably damaging	Het
Parpbp	A	G	10: 88,124,953	S224P	possibly damaging	Het
Pdgfc	A	G	3: 81,037,485	R17G	probably benign	Het
Pfpl	G	C	19: 12,428,933	E183Q	probably damaging	Het
Pik3r6	T	A	11: 68,533,532	L321*	probably null	Het
Pnp2	T	C	14: 50,959,549	W31R	probably damaging	Het
Prr12	T	C	7: 45,047,530	Y987C	unknown	Het
Prr27	C	A	5: 87,843,135	P202Q	probably benign	Het
Prss23	T	C	7: 89,510,475	I129V	probably damaging	Het
Rhno1	T	C	6: 128,359,156	T39A	probably damaging	Het
Rps2	A	T	17: 24,721,836	R279*	probably null	Het
Ski	T	C	4: 155,159,887	K427R	probably damaging	Het
Slc23a3	ATT	ATTT	1: 75,133,281		probably null	Het
Slc26a7	C	T	4: 14,546,372	G319D	probably damaging	Het
Slc7a6os	A	G	8: 106,210,891	V8A	probably damaging	Het
Smim8	A	C	4: 34,771,265	I43S	probably damaging	Het
Sox5	T	C	6: 143,874,116	K400R	probably damaging	Het
Tab1	G	A	15: 80,148,742	V76M	probably damaging	Het
Taf2	A	C	15: 55,031,044		probably null	Het
Taf5	G	A	19: 47,070,995	V193M	probably damaging	Het
Tm2d1	A	T	4: 98,358,024	S180R	probably damaging	Het
Ttc12	A	G	9: 49,456,866	F287S	probably damaging	Het
Ubqln4	G	A	3: 88,565,878		probably null	Het
Ubr3	T	C	2: 70,009,153	V1537A	probably benign	Het
Ugt8a	A	G	3: 125,915,251	L70P	probably damaging	Het
Vps26a	A	T	10: 62,480,654	N51K	probably benign	Het
Wdr66	A	G	5: 123,322,470	Y1165C	probably damaging	Het
Xkr5	T	A	8: 18,940,733	T173S	probably benign	Het
Zfp354c	A	G	11: 50,815,412	C279R	probably damaging	Het
Zfp65	T	A	13: 67,708,359	H267L	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
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
Z1088:Efl1	UTSW	7	82692850	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGTCACGTTGGAGATGAAAAC -3'
(R):5'- AGCCATGTATTTTCCATGCTGAG -3'

Sequencing Primer
(F):5'- CCAAGAGCAACAAGATGTCTG -3'
(R):5'- GAGAATTTAAGATACAGGTCTCTGGC -3'

Posted On

2022-11-14