Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03014:Efl1'

453316

Institutional Source

Beutler Lab

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: 0.888) question?

Stock #

IGL03014 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82651886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 33 (T33A)

Ref Sequence

ENSEMBL: ENSMUSP00000146350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039881] [ENSMUST00000056728] [ENSMUST00000126478] [ENSMUST00000141726] [ENSMUST00000179489] [ENSMUST00000207693] [ENSMUST00000207868]

AlphaFold

Q8C0D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039881
AA Change: T33A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: T33A

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 benign
Transcript: ENSMUST00000056728

SMART Domains

Protein: ENSMUSP00000057993
Gene: ENSMUSG00000038570

Domain	Start	End	E-Value	Type
Pfam:STOP	4	201	3.6e-42	PFAM
Pfam:STOP	237	390	4.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125245

Predicted Effect

probably benign
Transcript: ENSMUST00000126478

Predicted Effect

probably damaging
Transcript: ENSMUST00000141726
AA Change: T33A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121909
Gene: ENSMUSG00000038563
AA Change: T33A

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: ENSMUST00000151632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156720

Predicted Effect

probably damaging
Transcript: ENSMUST00000179489
AA Change: T33A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: T33A

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

probably benign
Transcript: ENSMUST00000207693

Predicted Effect

probably damaging
Transcript: ENSMUST00000207868
AA Change: T33A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.8511

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

96% (51/53)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	G	14: 8,431,608	*675Q	probably null	Het
4933416I08Rik	TCC	TCCC	X: 53,690,895		noncoding transcript	Het
AW112010	A	G	19: 11,048,092		noncoding transcript	Het
BC003331	C	A	1: 150,383,053		probably benign	Het
Ccdc134	T	C	15: 82,130,105	L13P	probably damaging	Het
Ccdc150	G	T	1: 54,290,702	V395F	probably damaging	Het
Cdh22	G	T	2: 165,112,411	S730*	probably null	Het
Chrng	G	T	1: 87,211,037		probably null	Het
Cilp	TGGG	TGG	9: 65,280,130		probably null	Het
Crb1	CG	C	1: 139,237,086		probably null	Het
Csmd2	G	T	4: 128,296,429	M387I	probably benign	Het
Cux1	T	C	5: 136,565,525		probably benign	Het
D130043K22Rik	C	T	13: 24,858,092	P335S	possibly damaging	Het
Dctn1	A	G	6: 83,197,369		probably benign	Het
Dock11	G	T	X: 36,047,046		probably benign	Het
Dsn1	A	T	2: 156,996,819	M292K	possibly damaging	Het
Efemp1	A	G	11: 28,926,218	Y461C	probably damaging	Het
Fbln2	T	C	6: 91,265,919		probably benign	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Hecw1	T	A	13: 14,245,808	Y1010F	probably damaging	Het
Igha	A	G	12: 113,259,093	V236A	unknown	Het
Igsf9b	T	C	9: 27,322,636	M377T	probably benign	Het
Itga9	A	G	9: 118,628,144	T108A	probably benign	Het
Kcna3	A	T	3: 107,037,890	M490L	probably benign	Het
Lama3	A	T	18: 12,539,967	Y886F	possibly damaging	Het
Lcorl	T	C	5: 45,774,029		probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Olfr33	A	T	7: 102,713,546	V289E	probably null	Het
Olfr43	G	A	11: 74,206,827	L130F	probably damaging	Het
Pex10	A	G	4: 155,070,619		probably benign	Het
Plcl2	G	A	17: 50,611,001	V943M	possibly damaging	Het
Prkcd	T	A	14: 30,607,337	T164S	probably damaging	Het
Ptprn2	T	A	12: 117,248,688	L910Q	probably damaging	Het
Rab1b	T	C	19: 5,104,895	I41V	probably benign	Het
Scpep1	T	A	11: 88,933,445		probably null	Het
Sergef	T	C	7: 46,590,756	T288A	probably damaging	Het
Setdb1	G	A	3: 95,341,415	P397S	probably damaging	Het
Setx	T	A	2: 29,139,411	D230E	probably damaging	Het
Sin3a	C	A	9: 57,095,255		probably benign	Het
Smad5	T	C	13: 56,735,941	L380P	probably damaging	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Stard9	A	T	2: 120,702,194		probably benign	Het
Tek	A	G	4: 94,827,263	D346G	probably benign	Het
Trav7d-4	T	A	14: 52,769,896	W12R	unknown	Het
Trmt1l	G	T	1: 151,457,930	W728L	probably damaging	Het
Ubash3a	C	A	17: 31,239,224	T559K	probably damaging	Het
Vmn1r72	T	A	7: 11,669,784	I246F	possibly damaging	Het
Zfp618	A	T	4: 63,080,088	Q109L	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TGGTTTCCCCATCAGTTACAAG -3'
(R):5'- GCAATATGGAAGTGAGCTTTTCTC -3'

Sequencing Primer
(F):5'- CCCCATCAGTTACAAGTCTTACTAAG -3'
(R):5'- AACTTAATGGGTTGTCAGTCCC -3'

Posted On

2017-02-01