Mutagenetix > Incidental Mutation

Incidental Mutation 'R7453:Efl1'

577891

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: 0.867) question?

Stock #

R7453 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82681467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 283 (V283F)

Ref Sequence

ENSEMBL: ENSMUSP00000046046 (fasta)

Gene Model

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

AlphaFold

Q8C0D5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039881
AA Change: V283F

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: V283F

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

possibly damaging
Transcript: ENSMUST00000179489
AA Change: V283F

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: V283F

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (122/122)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 156,003,389	S32P	possibly damaging	Het
Acaca	T	C	11: 84,245,310	V497A	probably benign	Het
Acox1	T	C	11: 116,180,961	T214A	probably benign	Het
Adgrb2	G	A	4: 130,014,637		probably null	Het
Adh1	G	A	3: 138,289,941		probably null	Het
Angptl1	G	T	1: 156,844,851	M82I	probably benign	Het
Arg1	A	G	10: 24,915,776	L269P	probably damaging	Het
Arid2	T	G	15: 96,370,724	V906G	probably benign	Het
Arid5b	A	T	10: 68,243,164	H114Q	probably benign	Het
Atad5	T	C	11: 80,119,143		probably null	Het
AU040320	G	A	4: 126,835,700		probably null	Het
B230104I21Rik	A	T	4: 154,347,728	T44S	unknown	Het
BC024063	G	A	10: 82,110,157	R537H	possibly damaging	Het
Bfsp2	A	T	9: 103,453,107	L177Q	probably damaging	Het
Birc5	C	A	11: 117,852,681	H80Q	probably damaging	Het
Bpifb9a	T	C	2: 154,264,695	L382P	probably damaging	Het
Ces2c	A	T	8: 104,849,670	N105I	probably benign	Het
Cflar	G	A	1: 58,753,797	V441M		Het
Ckap4	A	G	10: 84,528,599	V200A	probably damaging	Het
Clec16a	C	A	16: 10,644,822	T668N	probably damaging	Het
Cntrl	A	C	2: 35,155,409	E1376D	possibly damaging	Het
Col18a1	A	T	10: 77,085,210		probably null	Het
Coq2	T	C	5: 100,663,586	Y179C	probably benign	Het
Cpne6	A	G	14: 55,512,016	E11G	probably benign	Het
Cr2	A	C	1: 195,165,257		probably null	Het
Csf2rb2	C	T	15: 78,285,291	D555N	probably benign	Het
Cyp2j12	A	T	4: 96,102,126	V401D	possibly damaging	Het
Dbp	C	T	7: 45,705,703	A27V	probably benign	Het
Dll1	C	A	17: 15,374,889	R42L	probably benign	Het
Dst	C	A	1: 34,191,358	H2677Q	possibly damaging	Het
Enah	C	T	1: 181,961,905	C7Y	unknown	Het
Fam193a	A	T	5: 34,464,116	E1139V	possibly damaging	Het
Fbn1	G	A	2: 125,320,959	P2136S	possibly damaging	Het
Fggy	T	C	4: 95,597,690	V91A	probably damaging	Het
Fn1	T	A	1: 71,590,880	D2343V	probably damaging	Het
Galk2	T	C	2: 125,887,861	V54A	possibly damaging	Het
Glb1l	T	A	1: 75,202,706	Y193F	probably damaging	Het
Gm45861	G	T	8: 27,541,658	R867L	unknown	Het
Grin2b	T	C	6: 135,740,949	D715G	possibly damaging	Het
Hltf	A	T	3: 20,082,752	R384S	possibly damaging	Het
Hs3st1	A	G	5: 39,614,967	M111T	probably damaging	Het
Idua	A	G	5: 108,681,496	T388A	probably benign	Het
Kat14	T	C	2: 144,380,734	S136P	possibly damaging	Het
Kif24	A	C	4: 41,394,673	C867W	possibly damaging	Het
Klhdc10	T	A	6: 30,447,990		probably null	Het
Klra10	A	G	6: 130,280,364	V59A	probably damaging	Het
Limk1	T	A	5: 134,669,237	I223F	probably damaging	Het
Lrp10	G	A	14: 54,468,456	G368S	probably damaging	Het
Lrrc7	T	C	3: 158,185,409	R374G	probably benign	Het
Lypd1	T	A	1: 125,873,566	M66L	probably benign	Het
Maats1	A	G	16: 38,321,479	S364P	possibly damaging	Het
Mast4	C	T	13: 102,804,641		probably null	Het
Mbp	C	T	18: 82,554,643	H155Y	probably damaging	Het
Micu3	G	A	8: 40,335,898	C150Y	probably benign	Het
Mras	C	T	9: 99,389,740	V174I	probably benign	Het
Mroh1	T	A	15: 76,433,545	I827N	probably damaging	Het
Ms4a12	C	A	19: 11,225,662	G101*	probably null	Het
Mylk2	A	T	2: 152,912,433	K149M	probably damaging	Het
Myom3	T	A	4: 135,801,035	L1064I	probably damaging	Het
Naa30	A	G	14: 49,187,687	*365W	probably null	Het
Ncoa1	C	T	12: 4,259,307	G1330R	probably damaging	Het
Nhlh1	T	A	1: 172,054,279	T7S	probably benign	Het
Nipsnap3a	A	G	4: 52,995,882	Q110R	probably benign	Het
Nostrin	T	C	2: 69,183,896	Y399H	possibly damaging	Het
Nsfl1c	C	A	2: 151,509,511	T263K	possibly damaging	Het
Nup153	T	C	13: 46,681,181	T1456A	probably damaging	Het
Olfr116	G	T	17: 37,624,385	D83E	probably benign	Het
Olfr154	T	A	2: 85,664,180	M85L	probably benign	Het
Olfr558	T	A	7: 102,709,517	I86N	probably damaging	Het
Olfr67	T	A	7: 103,787,672	I202F	possibly damaging	Het
Olfr933	A	T	9: 38,976,204	H176L	probably damaging	Het
Olfr97	T	C	17: 37,231,980	Y130C	probably damaging	Het
Pan3	G	A	5: 147,526,681		probably null	Het
Pcdhgb2	C	T	18: 37,691,015	T353I	probably damaging	Het
Pcif1	A	T	2: 164,888,364	H339L	probably damaging	Het
Pcif1	A	G	2: 164,889,630	H501R	possibly damaging	Het
Pcnt	T	C	10: 76,389,450	H1740R	probably benign	Het
Polr1b	T	A	2: 129,125,663	I992N	probably damaging	Het
Ppfia2	C	T	10: 106,927,830	T1228M	possibly damaging	Het
Ppp2r5e	A	G	12: 75,462,342	F388L	probably damaging	Het
Ptpre	G	T	7: 135,538,074	R4L	unknown	Het
Pzp	G	T	6: 128,486,916	P1410T	probably damaging	Het
Qrich1	A	C	9: 108,556,476	K656T	possibly damaging	Het
Rabep1	C	T	11: 70,917,660	P481S	probably damaging	Het
Rgs9	T	A	11: 109,227,268	R579W	probably damaging	Het
Rhot1	T	C	11: 80,248,540		probably null	Het
Rnf123	T	A	9: 108,070,408		probably null	Het
Rreb1	T	G	13: 37,941,569	C1284G	probably damaging	Het
Rsph4a	A	G	10: 33,909,293	E400G	probably benign	Het
Rufy4	T	A	1: 74,129,334		probably null	Het
S100pbp	A	G	4: 129,182,085	L149P	probably damaging	Het
Sall3	T	C	18: 80,972,040	D891G	probably benign	Het
Scn10a	C	T	9: 119,638,552	V841I	probably benign	Het
Scn5a	T	A	9: 119,522,590	Y775F	possibly damaging	Het
Sec62	A	T	3: 30,809,796		probably null	Het
Slc24a1	A	T	9: 64,949,301	M108K	unknown	Het
Spata22	T	A	11: 73,335,990		probably null	Het
Stk4	A	G	2: 164,086,602	N118S	probably benign	Het
Stt3a	A	T	9: 36,747,970	S358T	possibly damaging	Het
Tbc1d31	T	A	15: 57,950,995	F531I	probably damaging	Het
Tfrc	A	G	16: 32,619,049	T307A	probably damaging	Het
Thegl	A	G	5: 77,060,786	H387R	probably damaging	Het
Tnpo2	T	C	8: 85,055,022	I811T	probably damaging	Het
Ttc23l	T	C	15: 10,533,767	Y230C	probably damaging	Het
Ttll13	A	G	7: 80,260,434	D775G	probably benign	Het
Ttn	T	C	2: 76,944,929	K1969R	unknown	Het
Ube2s	G	A	7: 4,810,436	R110*	probably null	Het
Ubxn11	G	A	4: 134,126,229	R364Q	probably benign	Het
Unc13d	T	C	11: 116,067,871	Q773R	probably benign	Het
Ush2a	T	C	1: 188,553,111	V1948A	probably damaging	Het
Vmn1r205	A	T	13: 22,592,761	I57N	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,411,560		probably null	Het
Vmn2r71	A	T	7: 85,624,089	T704S	probably benign	Het
Vmn2r93	T	A	17: 18,313,318	S495T	probably benign	Het
Wiz	T	A	17: 32,379,075	I102F	probably benign	Het
Zan	A	C	5: 137,466,002	L514V	probably damaging	Het
Zfp106	T	A	2: 120,510,527	N1857I	probably damaging	Het
Zfp106	A	T	2: 120,545,919		probably null	Het
Zfp738	T	C	13: 67,670,355	T506A	probably benign	Het
Zfp934	T	C	13: 62,518,703	N53S	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
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
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'- GCATTCTGAATGGTATATGGCAAAG -3'
(R):5'- GCTCACTGTCTTTACAAAGCG -3'

Sequencing Primer
(F):5'- GAAACAGTGAAGGGTTAGCTGTATTC -3'
(R):5'- CTCACTGTCTTTACAAAGCGAAAGTC -3'

Posted On

2019-10-07