Mutagenetix > Incidental Mutation

Incidental Mutation 'R1933:Efl1'

215564

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GPTase 1

Synonyms

6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1

MMRRC Submission

039951-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.847) question?

Stock #

R1933 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 82763117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 905 (Q905*)

Ref Sequence

ENSEMBL: ENSMUSP00000137061 (fasta)

Gene Model

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

AlphaFold

Q8C0D5

Predicted Effect

probably null
Transcript: ENSMUST00000039881
AA Change: Q905*

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: Q905*

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 null
Transcript: ENSMUST00000179489
AA Change: Q905*

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: Q905*

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: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,754,885 (GRCm38)	Y396F	probably benign	Het
Adra2a	T	A	19: 54,046,406 (GRCm38)	F64L	probably damaging	Het
Ankrd45	A	T	1: 161,151,300 (GRCm38)	N103I	probably damaging	Het
Arhgef7	C	A	8: 11,808,713 (GRCm38)		probably null	Het
Bsn	A	G	9: 108,116,444 (GRCm38)	V703A	possibly damaging	Het
Btaf1	T	A	19: 36,972,957 (GRCm38)	I529K	probably damaging	Het
Ccdc110	A	G	8: 45,943,250 (GRCm38)	N726S	probably damaging	Het
Ccdc78	T	A	17: 25,787,070 (GRCm38)	S71T	probably damaging	Het
Cct5	G	T	15: 31,591,008 (GRCm38)	Q516K	probably benign	Het
Cd300c2	A	T	11: 115,000,859 (GRCm38)	V63E	probably benign	Het
Cdh16	A	G	8: 104,617,963 (GRCm38)	V7A	possibly damaging	Het
Clec16a	T	C	16: 10,688,539 (GRCm38)	F710L	probably damaging	Het
Clpb	T	G	7: 101,779,211 (GRCm38)	F393V	probably damaging	Het
Commd9	G	A	2: 101,901,031 (GRCm38)	R187H	probably damaging	Het
Crx	T	A	7: 15,868,376 (GRCm38)	K126*	probably null	Het
Dcaf13	T	A	15: 39,138,088 (GRCm38)	Y264N	probably damaging	Het
Dnah12	T	A	14: 26,734,495 (GRCm38)	I791N	probably damaging	Het
Dpy19l1	A	T	9: 24,434,387 (GRCm38)	D456E	probably damaging	Het
Dscam	A	G	16: 96,593,214 (GRCm38)	S1963P	probably benign	Het
Fam57b	T	A	7: 126,827,672 (GRCm38)		probably null	Het
Farsa	T	C	8: 84,861,151 (GRCm38)	F104L	probably benign	Het
Fbxl19	C	A	7: 127,750,929 (GRCm38)	A231E	probably benign	Het
Fbxw19	A	T	9: 109,481,650 (GRCm38)	N401K	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,965 (GRCm38)		probably benign	Het
Frem3	A	G	8: 80,612,890 (GRCm38)	N604S	probably benign	Het
Gad1	T	G	2: 70,587,392 (GRCm38)	C312G	possibly damaging	Het
Garem2	G	T	5: 30,114,862 (GRCm38)	E441*	probably null	Het
Glra3	G	T	8: 55,940,907 (GRCm38)	A18S	probably benign	Het
Gm8206	A	T	14: 6,022,475 (GRCm38)	M8K	probably benign	Het
Gpr162	G	A	6: 124,861,447 (GRCm38)	S80F	probably damaging	Het
Grpr	C	A	X: 163,549,141 (GRCm38)	V53L	probably benign	Het
Il21	C	T	3: 37,232,486 (GRCm38)	R27H	probably benign	Het
Il21r	C	T	7: 125,628,981 (GRCm38)	T208I	possibly damaging	Het
Kcnab2	T	C	4: 152,435,866 (GRCm38)	T6A	possibly damaging	Het
Klra4	T	A	6: 130,065,244 (GRCm38)	Q20L	possibly damaging	Het
Lrrtm1	A	T	6: 77,244,966 (GRCm38)		probably null	Het
Lrrtm3	A	G	10: 64,088,513 (GRCm38)	F292L	possibly damaging	Het
Mpeg1	A	T	19: 12,462,647 (GRCm38)	K490*	probably null	Het
Myh14	C	T	7: 44,615,348 (GRCm38)	M1671I	probably benign	Het
Nebl	A	T	2: 17,375,292 (GRCm38)	M757K	probably damaging	Het
Olfr1110	T	A	2: 87,135,844 (GRCm38)	H159L	probably damaging	Het
Olfr504	A	C	7: 108,565,523 (GRCm38)	F91V	possibly damaging	Het
Olfr631	G	T	7: 103,929,130 (GRCm38)	M102I	probably damaging	Het
Pkhd1l1	A	T	15: 44,540,884 (GRCm38)	H2303L	possibly damaging	Het
Podxl2	C	T	6: 88,849,605 (GRCm38)	V240M	probably benign	Het
Ppp2r5e	C	G	12: 75,469,567 (GRCm38)	A239P	probably damaging	Het
Prss53	T	C	7: 127,886,262 (GRCm38)	*553W	probably null	Het
Psma3	T	A	12: 70,984,694 (GRCm38)	M43K	probably benign	Het
Rad50	G	T	11: 53,680,061 (GRCm38)	T790K	probably benign	Het
Rasgrf1	G	T	9: 89,953,913 (GRCm38)	Q231H	probably damaging	Het
Rpn1	T	A	6: 88,093,859 (GRCm38)	V237E	probably damaging	Het
Scn10a	T	A	9: 119,609,998 (GRCm38)	M1601L	probably damaging	Het
Sema4f	G	T	6: 82,930,927 (GRCm38)	P180Q	probably damaging	Het
Serpinb5	A	G	1: 106,876,121 (GRCm38)	E8G	probably damaging	Het
Sgcg	C	T	14: 61,232,412 (GRCm38)	V167I	possibly damaging	Het
Slc25a13	C	T	6: 6,109,262 (GRCm38)	V367M	probably damaging	Het
Spata31	T	C	13: 64,920,610 (GRCm38)	S191P	probably benign	Het
Srbd1	A	G	17: 86,102,893 (GRCm38)	V537A	probably damaging	Het
Srgap1	G	T	10: 121,925,903 (GRCm38)	D113E	possibly damaging	Het
Srl	A	G	16: 4,492,350 (GRCm38)	I505T	probably damaging	Het
St14	G	A	9: 31,106,212 (GRCm38)	T226I	probably benign	Het
Stard9	T	A	2: 120,698,656 (GRCm38)	I1798N	possibly damaging	Het
Sugp1	A	G	8: 70,056,575 (GRCm38)	E166G	possibly damaging	Het
Susd1	A	T	4: 59,351,695 (GRCm38)	N455K	possibly damaging	Het
Sytl3	T	A	17: 6,733,046 (GRCm38)	V205E	probably damaging	Het
Tenm4	A	G	7: 96,895,326 (GRCm38)	Y2183C	probably damaging	Het
Tktl2	G	A	8: 66,512,347 (GRCm38)	V186M	probably damaging	Het
Tlr1	T	G	5: 64,925,438 (GRCm38)	T599P	possibly damaging	Het
Trpc6	G	A	9: 8,656,545 (GRCm38)	D658N	probably damaging	Het
Ttc39b	A	G	4: 83,232,720 (GRCm38)	V546A	possibly damaging	Het
Ube3c	T	C	5: 29,619,659 (GRCm38)	Y561H	probably damaging	Het
Vmn1r29	T	A	6: 58,307,420 (GRCm38)	S42T	probably benign	Het
Vps4a	T	C	8: 107,044,558 (GRCm38)	V392A	probably benign	Het
Wdfy4	T	C	14: 33,133,344 (GRCm38)	E771G	probably benign	Het
Whrn	G	A	4: 63,415,639 (GRCm38)	Q415*	probably null	Het
Wnt5a	C	T	14: 28,511,845 (GRCm38)	P10L	probably benign	Het
Zfhx2	T	C	14: 55,075,238 (GRCm38)		probably benign	Het
Zfp451	T	C	1: 33,777,822 (GRCm38)	K132R	probably damaging	Het

Other mutations in Efl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00541:Efl1	APN	7	82,658,111 (GRCm38)	missense	probably damaging	1.00
IGL00696:Efl1	APN	7	82,651,872 (GRCm38)	splice site	probably benign
IGL01344:Efl1	APN	7	82,681,480 (GRCm38)	splice site	probably benign
IGL01871:Efl1	APN	7	82,763,319 (GRCm38)	missense	possibly damaging	0.64
IGL01941:Efl1	APN	7	82,697,976 (GRCm38)	missense	probably benign	0.17
IGL02104:Efl1	APN	7	82,658,055 (GRCm38)	critical splice acceptor site	probably null
IGL02150:Efl1	APN	7	82,686,691 (GRCm38)	missense	probably benign
IGL02484:Efl1	APN	7	82,683,039 (GRCm38)	missense	probably damaging	0.98
IGL03140:Efl1	APN	7	82,692,881 (GRCm38)	missense	probably benign	0.00
IGL03188:Efl1	APN	7	82,671,701 (GRCm38)	missense	probably damaging	1.00
IGL03014:Efl1	UTSW	7	82,651,886 (GRCm38)	missense	probably damaging	1.00
PIT4469001:Efl1	UTSW	7	82,658,165 (GRCm38)	missense	probably benign	0.14
R0148:Efl1	UTSW	7	82,671,670 (GRCm38)	missense	probably damaging	1.00
R0226:Efl1	UTSW	7	82,693,011 (GRCm38)	splice site	probably benign
R0638:Efl1	UTSW	7	82,651,887 (GRCm38)	missense	probably damaging	1.00
R0684:Efl1	UTSW	7	82,651,886 (GRCm38)	missense	probably damaging	1.00
R1018:Efl1	UTSW	7	82,763,013 (GRCm38)	missense	possibly damaging	0.94
R1290:Efl1	UTSW	7	82,671,728 (GRCm38)	missense	probably damaging	1.00
R1720:Efl1	UTSW	7	82,683,721 (GRCm38)	missense	possibly damaging	0.50
R1973:Efl1	UTSW	7	82,762,877 (GRCm38)	missense	probably damaging	1.00
R2016:Efl1	UTSW	7	82,753,709 (GRCm38)	missense	probably damaging	1.00
R2124:Efl1	UTSW	7	82,692,913 (GRCm38)	missense	probably damaging	1.00
R2290:Efl1	UTSW	7	82,777,670 (GRCm38)	missense	probably damaging	1.00
R2415:Efl1	UTSW	7	82,697,967 (GRCm38)	missense	probably damaging	1.00
R3545:Efl1	UTSW	7	82,762,810 (GRCm38)	missense	probably benign	0.00
R3688:Efl1	UTSW	7	82,762,970 (GRCm38)	missense	probably benign	0.00
R4092:Efl1	UTSW	7	82,762,827 (GRCm38)	missense	probably benign	0.00
R4207:Efl1	UTSW	7	82,750,816 (GRCm38)	missense	probably damaging	0.98
R4347:Efl1	UTSW	7	82,697,966 (GRCm38)	missense	probably damaging	1.00
R4425:Efl1	UTSW	7	82,763,283 (GRCm38)	missense	probably damaging	0.99
R4816:Efl1	UTSW	7	82,671,719 (GRCm38)	missense	probably damaging	1.00
R4858:Efl1	UTSW	7	82,671,627 (GRCm38)	missense	probably damaging	1.00
R5077:Efl1	UTSW	7	82,658,087 (GRCm38)	missense	probably damaging	1.00
R5185:Efl1	UTSW	7	82,772,499 (GRCm38)	missense	probably damaging	1.00
R5319:Efl1	UTSW	7	82,674,506 (GRCm38)	missense	probably damaging	1.00
R5771:Efl1	UTSW	7	82,692,524 (GRCm38)	missense	probably benign	0.26
R5857:Efl1	UTSW	7	82,763,189 (GRCm38)	missense	probably benign
R5956:Efl1	UTSW	7	82,651,899 (GRCm38)	missense	probably damaging	1.00
R6433:Efl1	UTSW	7	82,674,568 (GRCm38)	missense	probably damaging	1.00
R7131:Efl1	UTSW	7	82,658,064 (GRCm38)	missense	probably damaging	1.00
R7143:Efl1	UTSW	7	82,762,680 (GRCm38)	missense	probably damaging	1.00
R7312:Efl1	UTSW	7	82,681,444 (GRCm38)	missense	probably benign	0.10
R7409:Efl1	UTSW	7	82,697,913 (GRCm38)	missense	probably damaging	0.98
R7422:Efl1	UTSW	7	82,681,379 (GRCm38)	missense	probably damaging	1.00
R7453:Efl1	UTSW	7	82,681,467 (GRCm38)	missense	possibly damaging	0.76
R7504:Efl1	UTSW	7	82,683,049 (GRCm38)	missense	probably damaging	1.00
R7884:Efl1	UTSW	7	82,658,099 (GRCm38)	missense	probably damaging	1.00
R7969:Efl1	UTSW	7	82,692,970 (GRCm38)	missense	probably benign	0.03
R8394:Efl1	UTSW	7	82,762,778 (GRCm38)	missense	probably benign	0.00
R8702:Efl1	UTSW	7	82,750,790 (GRCm38)	critical splice acceptor site	probably null
R8924:Efl1	UTSW	7	82,762,953 (GRCm38)	missense	probably benign	0.03
R9463:Efl1	UTSW	7	82,777,525 (GRCm38)	missense	probably damaging	1.00
R9762:Efl1	UTSW	7	82,763,388 (GRCm38)	missense	probably benign	0.09
Z1088:Efl1	UTSW	7	82,692,850 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAGAACTCAGTATGGTCTGG -3'
(R):5'- GCAGGCTTCTTTCATGGTAGC -3'

Sequencing Primer
(F):5'- AACTCAGTATGGTCTGGCCCAG -3'
(R):5'- CAGGCTTCTTTCATGGTAGCAATTAG -3'

Posted On

2014-07-14