Mutagenetix > Incidental Mutation

Incidental Mutation 'R1290:Efl1'

150758

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GTPase 1

Synonyms

D7Ertd791e, 6030468D11Rik, 4932434J20Rik, Eftud1

MMRRC Submission

039356-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R1290 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82297822-82427060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82320936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 123 (V123A)

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: V123A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: V123A

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 damaging
Transcript: ENSMUST00000141726
AA Change: V123A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121909
Gene: ENSMUSG00000038563
AA Change: V123A

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: V123A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: V123A

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfrp1	C	T	2: 181,006,397 (GRCm39)		probably null	Het
Borcs5	A	G	6: 134,621,331 (GRCm39)	D34G	possibly damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Exd2	T	A	12: 80,531,100 (GRCm39)	L99Q	probably benign	Het
Fnip2	T	C	3: 79,373,000 (GRCm39)	D1026G	probably damaging	Het
Gprin3	A	G	6: 59,331,449 (GRCm39)	F286S	possibly damaging	Het
Gramd1b	A	G	9: 40,228,117 (GRCm39)		probably null	Het
Ints1	A	T	5: 139,757,165 (GRCm39)	L417*	probably null	Het
Iqgap2	A	T	13: 95,805,021 (GRCm39)	V845E	probably damaging	Het
Kcnh3	G	A	15: 99,125,001 (GRCm39)		probably null	Het
Mbd1	T	C	18: 74,402,557 (GRCm39)	S20P	possibly damaging	Het
Mef2c	A	T	13: 83,810,478 (GRCm39)	T375S	probably benign	Het
Mmp16	A	T	4: 18,051,725 (GRCm39)	N238I	probably damaging	Het
Neurod2	A	T	11: 98,218,114 (GRCm39)	V350E	possibly damaging	Het
P3h2	C	T	16: 25,805,953 (GRCm39)	E297K	probably damaging	Het
Pcdhb1	A	G	18: 37,398,283 (GRCm39)	H78R	possibly damaging	Het
Slc22a14	A	C	9: 119,007,518 (GRCm39)	L297R	probably damaging	Het
Slc22a8	G	A	19: 8,587,275 (GRCm39)	G445D	probably damaging	Het
Spink5	A	G	18: 44,140,778 (GRCm39)	D659G	probably damaging	Het
St6gal1	A	G	16: 23,140,411 (GRCm39)	Q194R	probably benign	Het
Tas2r104	A	T	6: 131,661,808 (GRCm39)	C300*	probably null	Het
Ttc6	G	A	12: 57,707,199 (GRCm39)	S702N	probably benign	Het
Wnk4	C	G	11: 101,167,166 (GRCm39)		probably benign	Het
Zfyve28	A	T	5: 34,356,145 (GRCm39)	D785E	probably benign	Het

Other mutations in Efl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00541:Efl1	APN	7	82,307,319 (GRCm39)	missense	probably damaging	1.00
IGL00696:Efl1	APN	7	82,301,080 (GRCm39)	splice site	probably benign
IGL01344:Efl1	APN	7	82,330,688 (GRCm39)	splice site	probably benign
IGL01871:Efl1	APN	7	82,412,527 (GRCm39)	missense	possibly damaging	0.64
IGL01941:Efl1	APN	7	82,347,184 (GRCm39)	missense	probably benign	0.17
IGL02104:Efl1	APN	7	82,307,263 (GRCm39)	critical splice acceptor site	probably null
IGL02150:Efl1	APN	7	82,335,899 (GRCm39)	missense	probably benign
IGL02484:Efl1	APN	7	82,332,247 (GRCm39)	missense	probably damaging	0.98
IGL03140:Efl1	APN	7	82,342,089 (GRCm39)	missense	probably benign	0.00
IGL03188:Efl1	APN	7	82,320,909 (GRCm39)	missense	probably damaging	1.00
IGL03014:Efl1	UTSW	7	82,301,094 (GRCm39)	missense	probably damaging	1.00
PIT4469001:Efl1	UTSW	7	82,307,373 (GRCm39)	missense	probably benign	0.14
R0148:Efl1	UTSW	7	82,320,878 (GRCm39)	missense	probably damaging	1.00
R0226:Efl1	UTSW	7	82,342,219 (GRCm39)	splice site	probably benign
R0638:Efl1	UTSW	7	82,301,095 (GRCm39)	missense	probably damaging	1.00
R0684:Efl1	UTSW	7	82,301,094 (GRCm39)	missense	probably damaging	1.00
R1018:Efl1	UTSW	7	82,412,221 (GRCm39)	missense	possibly damaging	0.94
R1720:Efl1	UTSW	7	82,332,929 (GRCm39)	missense	possibly damaging	0.50
R1933:Efl1	UTSW	7	82,412,325 (GRCm39)	nonsense	probably null
R1973:Efl1	UTSW	7	82,412,085 (GRCm39)	missense	probably damaging	1.00
R2016:Efl1	UTSW	7	82,402,917 (GRCm39)	missense	probably damaging	1.00
R2124:Efl1	UTSW	7	82,342,121 (GRCm39)	missense	probably damaging	1.00
R2290:Efl1	UTSW	7	82,426,878 (GRCm39)	missense	probably damaging	1.00
R2415:Efl1	UTSW	7	82,347,175 (GRCm39)	missense	probably damaging	1.00
R3545:Efl1	UTSW	7	82,412,018 (GRCm39)	missense	probably benign	0.00
R3688:Efl1	UTSW	7	82,412,178 (GRCm39)	missense	probably benign	0.00
R4092:Efl1	UTSW	7	82,412,035 (GRCm39)	missense	probably benign	0.00
R4207:Efl1	UTSW	7	82,400,024 (GRCm39)	missense	probably damaging	0.98
R4347:Efl1	UTSW	7	82,347,174 (GRCm39)	missense	probably damaging	1.00
R4425:Efl1	UTSW	7	82,412,491 (GRCm39)	missense	probably damaging	0.99
R4816:Efl1	UTSW	7	82,320,927 (GRCm39)	missense	probably damaging	1.00
R4858:Efl1	UTSW	7	82,320,835 (GRCm39)	missense	probably damaging	1.00
R5077:Efl1	UTSW	7	82,307,295 (GRCm39)	missense	probably damaging	1.00
R5185:Efl1	UTSW	7	82,421,707 (GRCm39)	missense	probably damaging	1.00
R5319:Efl1	UTSW	7	82,323,714 (GRCm39)	missense	probably damaging	1.00
R5771:Efl1	UTSW	7	82,341,732 (GRCm39)	missense	probably benign	0.26
R5857:Efl1	UTSW	7	82,412,397 (GRCm39)	missense	probably benign
R5956:Efl1	UTSW	7	82,301,107 (GRCm39)	missense	probably damaging	1.00
R6433:Efl1	UTSW	7	82,323,776 (GRCm39)	missense	probably damaging	1.00
R7131:Efl1	UTSW	7	82,307,272 (GRCm39)	missense	probably damaging	1.00
R7143:Efl1	UTSW	7	82,411,888 (GRCm39)	missense	probably damaging	1.00
R7312:Efl1	UTSW	7	82,330,652 (GRCm39)	missense	probably benign	0.10
R7409:Efl1	UTSW	7	82,347,121 (GRCm39)	missense	probably damaging	0.98
R7422:Efl1	UTSW	7	82,330,587 (GRCm39)	missense	probably damaging	1.00
R7453:Efl1	UTSW	7	82,330,675 (GRCm39)	missense	possibly damaging	0.76
R7504:Efl1	UTSW	7	82,332,257 (GRCm39)	missense	probably damaging	1.00
R7884:Efl1	UTSW	7	82,307,307 (GRCm39)	missense	probably damaging	1.00
R7969:Efl1	UTSW	7	82,342,178 (GRCm39)	missense	probably benign	0.03
R8394:Efl1	UTSW	7	82,411,986 (GRCm39)	missense	probably benign	0.00
R8702:Efl1	UTSW	7	82,399,998 (GRCm39)	critical splice acceptor site	probably null
R8924:Efl1	UTSW	7	82,412,161 (GRCm39)	missense	probably benign	0.03
R9463:Efl1	UTSW	7	82,426,733 (GRCm39)	missense	probably damaging	1.00
R9762:Efl1	UTSW	7	82,412,596 (GRCm39)	missense	probably benign	0.09
Z1088:Efl1	UTSW	7	82,342,058 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTCTGCCCAGCTATAAATGTGTCTTC -3'
(R):5'- CCGGCCTTAATGGAAAATTCTTCCAAC -3'

Sequencing Primer
(F):5'- AACAGCGGTTCGCATTTG -3'
(R):5'- CTTTTGTGAGACTAGAAACACTGGG -3'

Posted On

2014-01-29