Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Efl1'

33922

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GPTase 1

Synonyms

6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.847) question?

Stock #

R0226 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 82693011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137061 (fasta)

Gene Model

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

AlphaFold

Q8C0D5

Predicted Effect

probably benign
Transcript: ENSMUST00000039881

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563

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

noncoding transcript
Transcript: ENSMUST00000125245

Predicted Effect

probably benign
Transcript: ENSMUST00000179489

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209142

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,142,120 (GRCm38)	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,303,425 (GRCm38)	E876V	possibly damaging	Het
Aasdh	A	T	5: 76,902,002 (GRCm38)	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,957,018 (GRCm38)		probably null	Het
Ablim1	A	T	19: 57,043,870 (GRCm38)	L556Q	probably damaging	Het
Afdn	A	G	17: 13,899,146 (GRCm38)	T1700A	probably benign	Het
Agl	G	A	3: 116,752,071 (GRCm38)	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,278,029 (GRCm38)	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,270 (GRCm38)	C180*	probably null	Het
Aim2	A	G	1: 173,462,333 (GRCm38)		probably benign	Het
Angpt1	T	C	15: 42,468,235 (GRCm38)	N320S	probably benign	Het
Ankrd52	T	A	10: 128,389,858 (GRCm38)		probably null	Het
Ap1g1	C	T	8: 109,855,062 (GRCm38)	S654L	probably benign	Het
Bpifa1	T	A	2: 154,146,057 (GRCm38)	S173R	probably benign	Het
Brd8	T	C	18: 34,603,894 (GRCm38)		probably benign	Het
Btbd9	C	T	17: 30,274,942 (GRCm38)	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,490,843 (GRCm38)	T161A	probably benign	Het
Car6	T	C	4: 150,187,508 (GRCm38)	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,400,217 (GRCm38)	L273P	probably damaging	Het
Cit	G	A	5: 115,984,840 (GRCm38)	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,349,276 (GRCm38)	L48P	probably damaging	Het
Cttn	A	G	7: 144,441,852 (GRCm38)		probably benign	Het
Cyp4f18	T	C	8: 71,989,775 (GRCm38)		probably benign	Het
Dtnbp1	A	G	13: 44,923,193 (GRCm38)	L175P	probably damaging	Het
Fbn1	C	T	2: 125,320,910 (GRCm38)	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,801,061 (GRCm38)	S665T	probably benign	Het
Gm884	A	T	11: 103,603,241 (GRCm38)	F663L	probably benign	Het
Gm9843	A	T	16: 76,403,561 (GRCm38)		noncoding transcript	Het
Gpr155	C	T	2: 73,367,592 (GRCm38)	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076 (GRCm38)		probably benign	Het
Hdgfl1	A	T	13: 26,769,996 (GRCm38)	H31Q	probably benign	Het
Heatr1	T	C	13: 12,410,562 (GRCm38)	S628P	probably damaging	Het
Hivep2	A	G	10: 14,129,712 (GRCm38)	T685A	probably benign	Het
Hmgcl	T	G	4: 135,958,728 (GRCm38)	V168G	probably damaging	Het
Itch	T	C	2: 155,199,394 (GRCm38)	I454T	probably benign	Het
Itih2	T	C	2: 10,115,299 (GRCm38)	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,842,952 (GRCm38)	I304V	probably benign	Het
Kcnh1	G	T	1: 192,276,805 (GRCm38)	W222C	probably damaging	Het
Kcnh1	G	A	1: 192,276,804 (GRCm38)	W222*	probably null	Het
Kif24	T	A	4: 41,414,939 (GRCm38)	K287*	probably null	Het
Lrig3	A	G	10: 125,972,117 (GRCm38)		probably benign	Het
Lrp2	A	T	2: 69,537,563 (GRCm38)	C202S	probably null	Het
Lrrn2	A	G	1: 132,937,820 (GRCm38)	N208D	probably damaging	Het
Mcm5	C	T	8: 75,126,252 (GRCm38)	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,634,446 (GRCm38)	L365S	probably benign	Het
Mfsd6	A	G	1: 52,658,690 (GRCm38)		probably benign	Het
Mgat4e	A	G	1: 134,541,103 (GRCm38)	V401A	probably benign	Het
Mllt3	C	A	4: 87,840,732 (GRCm38)	V360L	probably benign	Het
Mrm1	G	A	11: 84,819,170 (GRCm38)	A68V	possibly damaging	Het
Myo19	A	G	11: 84,897,732 (GRCm38)		probably benign	Het
Myo3b	A	G	2: 70,217,166 (GRCm38)	T311A	probably benign	Het
Myo5b	T	C	18: 74,742,180 (GRCm38)	F1552L	probably benign	Het
Myo7b	C	T	18: 31,972,896 (GRCm38)	V1353I	probably benign	Het
Myo9b	T	C	8: 71,353,832 (GRCm38)	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,176,134 (GRCm38)	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,353,008 (GRCm38)	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,448,201 (GRCm38)	S703P	probably damaging	Het
Pclo	T	C	5: 14,765,223 (GRCm38)	I1231T	probably damaging	Het
Pex16	A	C	2: 92,375,687 (GRCm38)		probably benign	Het
Pfkl	T	C	10: 77,992,534 (GRCm38)	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,526,784 (GRCm38)	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,456,696 (GRCm38)	T106S	probably benign	Het
Prrc1	A	G	18: 57,363,291 (GRCm38)	M105V	probably benign	Het
Psg26	A	G	7: 18,483,958 (GRCm38)	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,731,437 (GRCm38)	S455C	probably damaging	Het
Ryr2	T	C	13: 11,772,556 (GRCm38)	K977R	probably damaging	Het
Sart1	C	T	19: 5,381,122 (GRCm38)		probably benign	Het
Sec14l5	A	G	16: 5,180,303 (GRCm38)	S509G	probably benign	Het
Sin3b	A	T	8: 72,744,508 (GRCm38)	E361V	probably benign	Het
Slc35e3	C	T	10: 117,740,890 (GRCm38)	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,001,583 (GRCm38)	S388P	probably damaging	Het
Srms	A	G	2: 181,212,382 (GRCm38)	S131P	probably benign	Het
Stxbp5	T	C	10: 9,866,698 (GRCm38)		probably benign	Het
Taar2	T	C	10: 23,941,063 (GRCm38)	V167A	probably damaging	Het
Taar2	G	A	10: 23,941,495 (GRCm38)	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,900 (GRCm38)	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,714,169 (GRCm38)		probably benign	Het
Tmem173	A	T	18: 35,739,088 (GRCm38)	F120L	probably benign	Het
Tnfaip3	T	C	10: 19,002,747 (GRCm38)	K771R	probably damaging	Het
Treml1	C	T	17: 48,360,458 (GRCm38)	L124F	probably damaging	Het
Ttn	G	T	2: 76,780,797 (GRCm38)	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,230,711 (GRCm38)	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,703,083 (GRCm38)	V248L	possibly damaging	Het
Vps35	T	C	8: 85,273,575 (GRCm38)	Q474R	probably damaging	Het
Wdr17	T	A	8: 54,663,008 (GRCm38)	T580S	probably benign	Het
Xpnpep1	T	C	19: 53,010,152 (GRCm38)	K222E	probably benign	Het
Ylpm1	A	G	12: 85,049,737 (GRCm38)	T1446A	probably benign	Het
Zfp277	A	G	12: 40,364,162 (GRCm38)	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,813,275 (GRCm38)	K57M	probably damaging	Het
Zmpste24	A	T	4: 121,081,209 (GRCm38)	S244R	probably benign	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
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
R1933:Efl1	UTSW	7	82,763,117 (GRCm38)	nonsense	probably null
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'- TGAACCAGATGTGGCAAGTGTAAGC -3'
(R):5'- AATAGACTCCAGGCAATGCAGGC -3'

Sequencing Primer
(F):5'- AAGTGTAAGCCGCCAGC -3'
(R):5'- GCCAGAAAAGTTGTTCACTTGC -3'

Posted On

2013-05-09