Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03188:Efl1'

412523

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GPTase 1

Synonyms

6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.843) question?

Stock #

IGL03188

Quality Score

Status

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82671701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 114 (I114N)

Ref Sequence

ENSEMBL: ENSMUSP00000137061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039881] [ENSMUST00000141726] [ENSMUST00000179489]

AlphaFold

Q8C0D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039881
AA Change: I114N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: I114N

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

possibly damaging
Transcript: ENSMUST00000141726
AA Change: I114N

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121909
Gene: ENSMUSG00000038563
AA Change: I114N

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	17	222	2.3e-57	PFAM
Pfam:MMR_HSR1	21	147	2e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153265

Predicted Effect

probably damaging
Transcript: ENSMUST00000179489
AA Change: I114N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: I114N

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,225	Y186C	possibly damaging	Het
Adamts18	C	A	8: 113,699,024	C1202F	probably damaging	Het
Ago2	C	T	15: 73,123,333	V466I	probably benign	Het
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Aptx	A	T	4: 40,695,143		probably null	Het
Aurka	A	T	2: 172,363,768	D123E	possibly damaging	Het
AW549877	A	G	15: 3,988,705	Y163H	probably damaging	Het
Btaf1	T	C	19: 36,949,108	I60T	possibly damaging	Het
Ccdc154	A	T	17: 25,164,093		probably null	Het
Cct5	T	C	15: 31,598,002	N55S	probably benign	Het
Cntnap3	A	G	13: 64,781,745	S547P	probably damaging	Het
Gprin1	T	C	13: 54,738,652	D603G	probably benign	Het
Il16	A	G	7: 83,688,163	S115P	probably benign	Het
Kalrn	C	A	16: 34,314,192	V401L	probably benign	Het
Kcnq4	T	A	4: 120,704,426	K482I	possibly damaging	Het
L3mbtl3	C	T	10: 26,342,617	A114T	unknown	Het
Lig1	G	A	7: 13,311,107		probably benign	Het
Lnx1	G	A	5: 74,620,263	T199M	probably damaging	Het
Mapk13	A	G	17: 28,776,583		probably benign	Het
Mfsd2b	A	T	12: 4,866,538		probably null	Het
Mrpl3	A	G	9: 105,057,065	D137G	probably benign	Het
Muc15	A	G	2: 110,731,699	D160G	probably benign	Het
Myh4	T	C	11: 67,246,543		probably null	Het
Nipa2	T	G	7: 55,932,932	N355T	probably benign	Het
Olfr1396	T	C	11: 49,113,709	N6D	probably damaging	Het
Olfr484	T	C	7: 108,124,634	T210A	probably benign	Het
Olfr644	A	G	7: 104,068,738	S98P	possibly damaging	Het
Olfr749	A	T	14: 50,736,858	Y101*	probably null	Het
Pfkm	G	T	15: 98,123,243		probably null	Het
Ppip5k1	A	G	2: 121,326,846		probably benign	Het
Ppp1r18	A	G	17: 35,867,965	D244G	possibly damaging	Het
Scn2a	T	C	2: 65,671,653	S107P	probably damaging	Het
Scn5a	A	T	9: 119,522,566	I783N	probably damaging	Het
Snx1	A	G	9: 66,094,452	W307R	probably damaging	Het
Stk11ip	G	A	1: 75,534,435	V928M	probably benign	Het
Tgm4	A	G	9: 123,045,036	M114V	probably null	Het
Trpm2	G	A	10: 77,918,909	R1248C	probably benign	Het
Txnrd1	T	C	10: 82,885,046	I347T	possibly damaging	Het
Unc5a	A	G	13: 54,999,503	S106G	probably damaging	Het
Vmn2r85	T	C	10: 130,418,743	M691V	probably benign	Het
Zfp58	T	A	13: 67,491,409	Q321L	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
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
R9762:Efl1	UTSW	7	82763388	missense	probably benign	0.09
Z1088:Efl1	UTSW	7	82692850	missense	probably benign	0.00

Posted On

2016-08-02