Mutagenetix > Incidental Mutation

Incidental Mutation 'R2290:Efl1'

244268

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GPTase 1

Synonyms

6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1

MMRRC Submission

040289-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R2290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82777670 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1125 (K1125N)

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: K1125N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: K1125N

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: K1125N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: K1125N

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

0.0723

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (73/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	C	10: 83,527,313	D62G	probably damaging	Het
Ambp	T	C	4: 63,143,687	Y335C	probably damaging	Het
Arid4a	G	T	12: 71,061,541	G40V	probably damaging	Het
Asb13	G	A	13: 3,649,418	G206D	probably damaging	Het
Ccdc7b	A	G	8: 129,131,106		probably benign	Het
Cdh15	A	T	8: 122,859,317	N145I	probably damaging	Het
Celsr3	T	C	9: 108,843,224	I2565T	probably damaging	Het
Cfap43	A	T	19: 47,773,135	M840K	probably damaging	Het
Clip4	T	C	17: 71,810,953	V331A	possibly damaging	Het
Cnnm1	A	G	19: 43,491,502	T829A	probably benign	Het
Col24a1	G	A	3: 145,513,195	G1457E	probably damaging	Het
D6Ertd527e	A	G	6: 87,111,545	N230S	unknown	Het
Dll1	T	C	17: 15,374,748	D89G	probably benign	Het
Dst	T	A	1: 34,229,200	V2901E	probably damaging	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Efr3a	T	A	15: 65,849,839	F437L	probably benign	Het
Eqtn	GTTCTTCTTC	GTTCTTC	4: 94,926,942		probably benign	Het
Ermp1	T	C	19: 29,623,778	D523G	probably damaging	Het
Gm38999	A	G	7: 43,427,699	E5G	probably benign	Het
Gm5828	C	T	1: 16,768,344		noncoding transcript	Het
Gnas	T	C	2: 174,300,010	F717L	probably benign	Het
H6pd	T	A	4: 149,981,881	S683C	probably damaging	Het
Il23r	G	A	6: 67,423,861	T495I	probably benign	Het
Itpr2	T	C	6: 146,422,828	N135D	probably damaging	Het
Kcns2	T	A	15: 34,838,509	L6Q	possibly damaging	Het
Khdrbs3	C	T	15: 69,029,761	R132C	probably damaging	Het
Kif2b	A	G	11: 91,575,696	V587A	probably benign	Het
Kng1	A	T	16: 23,079,125	H425L	possibly damaging	Het
Letm1	A	AG	5: 33,769,515		probably null	Het
Lrrc8e	T	C	8: 4,231,770	M35T	probably damaging	Het
Med12l	A	G	3: 59,244,938	N1048S	probably damaging	Het
Mex3c	A	C	18: 73,590,693	N619T	probably damaging	Het
Mfsd4b1	G	A	10: 40,003,331	T190I	probably damaging	Het
Ncam1	A	G	9: 49,523,651		probably benign	Het
Nlrp6	G	A	7: 140,922,163	G133S	probably damaging	Het
Olfr1385	A	G	11: 49,495,030	M166V	probably benign	Het
Olfr385	G	T	11: 73,588,919	A273D	probably benign	Het
Olfr957	A	G	9: 39,511,678	L14P	possibly damaging	Het
Olfr994	C	T	2: 85,430,200	V210M	possibly damaging	Het
Oplah	A	G	15: 76,302,725	V630A	probably benign	Het
Papd5	T	C	8: 88,251,975	S435P	probably damaging	Het
Pcnx2	A	T	8: 125,877,595		probably benign	Het
Pkhd1l1	A	T	15: 44,528,250	T1571S	probably benign	Het
Pramef12	T	A	4: 144,394,699	T252S	probably benign	Het
Pramef12	G	T	4: 144,395,122	H111N	probably benign	Het
Prr22	T	G	17: 56,771,884	F346V	probably benign	Het
Prr30	T	C	14: 101,198,775	N117S	possibly damaging	Het
Ptgfrn	A	G	3: 101,077,361	S172P	possibly damaging	Het
Ptprc	C	T	1: 138,111,188	V364I	probably benign	Het
Ptprz1	T	C	6: 23,000,991	S1027P	probably damaging	Het
Rinl	T	C	7: 28,792,271	V83A	probably benign	Het
Ros1	A	T	10: 52,118,381	S1268T	probably damaging	Het
Scly	T	C	1: 91,298,450		probably null	Het
Slc25a1	C	T	16: 17,925,848	V186M	possibly damaging	Het
Stk36	T	G	1: 74,626,144		probably benign	Het
Syn2	A	G	6: 115,274,229	T449A	possibly damaging	Het
Tecpr1	T	C	5: 144,214,063	D309G	probably damaging	Het
Tns2	T	A	15: 102,112,023	Y775N	probably damaging	Het
Tril	G	T	6: 53,818,027	R737S	probably damaging	Het
Ttl	G	A	2: 129,081,270	G177D	possibly damaging	Het
Twf1	A	G	15: 94,586,519	S41P	probably damaging	Het
Unc79	C	T	12: 103,146,366	T2174M	probably damaging	Het
Vangl2	T	A	1: 172,008,546	K340*	probably null	Het
Vmn2r72	T	A	7: 85,738,341	T672S	probably damaging	Het
Vwa7	A	G	17: 35,017,211	D47G	probably damaging	Het
Zc3h12d	A	G	10: 7,867,459	H331R	probably benign	Het
Zfa-ps	T	C	10: 52,545,016		noncoding transcript	Het
Zfp141	A	T	7: 42,475,225	C608S	probably damaging	Het
Zfp422	A	G	6: 116,626,642	I132T	possibly damaging	Het
Zfp652	A	G	11: 95,750,023	Y258C	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
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'- TACAAGGTCATTCCCAGCG -3'
(R):5'- GTGATCAACTCCGTGAAACAG -3'

Sequencing Primer
(F):5'- TCATTCCCAGCGACCCG -3'
(R):5'- CAAACGGTTTGGAAGTTATGTTCTC -3'

Posted On

2014-10-30