Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00696:Efl1'

13440

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: 0.847) question?

Stock #

IGL00696

Quality Score

Status

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 82651872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 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

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 benign
Transcript: ENSMUST00000141726

SMART Domains

Protein: ENSMUSP00000121909
Gene: ENSMUSG00000038563

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 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

probably benign
Transcript: ENSMUST00000207693

Predicted Effect

probably benign
Transcript: ENSMUST00000207868

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,171,426 (GRCm38)	E83G	probably damaging	Het
C1galt1	T	C	6: 7,866,475 (GRCm38)	V107A	probably damaging	Het
Dnah9	T	C	11: 65,841,238 (GRCm38)		probably benign	Het
Dnm1l	A	G	16: 16,342,715 (GRCm38)	S91P	probably benign	Het
Foxa1	T	C	12: 57,542,657 (GRCm38)	Y259C	probably damaging	Het
Inpp5b	T	G	4: 124,742,535 (GRCm38)	M1R	probably null	Het
Magea5	A	G	X: 155,053,436 (GRCm38)	F320S	possibly damaging	Het
Megf8	A	G	7: 25,342,392 (GRCm38)	I1244V	probably benign	Het
Scgb3a2	T	A	18: 43,767,029 (GRCm38)		probably benign	Het
Spats2	A	G	15: 99,210,894 (GRCm38)	K375R	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
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
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

Posted On

2012-12-06