Mutagenetix > Incidental Mutation

Incidental Mutation 'R7143:Efl1'

553544

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GPTase 1

Synonyms

6030468D11Rik, 4932434J20Rik, D7Ertd791e, Eftud1

MMRRC Submission

045222-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.847) question?

Stock #

R7143 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82648614-82777852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82762680 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 759 (P759L)

Ref Sequence

ENSEMBL: ENSMUSP00000046046 (fasta)

Gene Model

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

AlphaFold

Q8C0D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039881
AA Change: P759L

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

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: P759L

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 damaging
Transcript: ENSMUST00000179489
AA Change: P759L

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

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: P759L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	C	T	7: 104,059,215 (GRCm38)	C129Y	probably damaging	Het
Agbl4	A	G	4: 111,617,136 (GRCm38)	N374S	probably damaging	Het
Agl	A	G	3: 116,792,021 (GRCm38)	S153P	probably damaging	Het
Akap6	T	G	12: 52,887,364 (GRCm38)	D546E	probably benign	Het
Ankrd17	C	A	5: 90,285,961 (GRCm38)	A650S	possibly damaging	Het
Ankrd53	A	G	6: 83,762,911 (GRCm38)	R16G	possibly damaging	Het
Apba2	T	C	7: 64,744,417 (GRCm38)	L570P	probably damaging	Het
Asap1	A	G	15: 64,191,528 (GRCm38)	F101L	probably damaging	Het
Cadm4	T	A	7: 24,499,567 (GRCm38)	I89N	possibly damaging	Het
Cadps	C	T	14: 12,491,838 (GRCm38)	V771I	probably benign	Het
Cenph	A	G	13: 100,761,777 (GRCm38)	V206A	possibly damaging	Het
Cenpn	A	G	8: 116,937,227 (GRCm38)	T253A	probably benign	Het
Cep120	C	T	18: 53,683,385 (GRCm38)	G939R	probably benign	Het
Cfap57	G	A	4: 118,620,709 (GRCm38)		probably benign	Het
Clip1	T	C	5: 123,653,610 (GRCm38)	I166V	probably benign	Het
Cstf3	T	A	2: 104,646,616 (GRCm38)	V144E	probably benign	Het
Cyp21a1	T	A	17: 34,802,326 (GRCm38)	H357L	probably damaging	Het
Cyth3	T	A	5: 143,684,396 (GRCm38)	V12E	unknown	Het
Dgat2	T	C	7: 99,157,124 (GRCm38)	I289V	probably benign	Het
Dip2a	A	G	10: 76,297,791 (GRCm38)	C527R	probably damaging	Het
Dnah17	A	C	11: 118,086,130 (GRCm38)	W1879G	probably damaging	Het
Dnaic2	A	G	11: 114,754,250 (GRCm38)	T504A	possibly damaging	Het
Egfr	A	C	11: 16,871,627 (GRCm38)	I351L	probably benign	Het
Ercc6	G	A	14: 32,570,305 (GRCm38)	E1209K	probably damaging	Het
Fam135b	A	T	15: 71,479,151 (GRCm38)	M292K	probably benign	Het
Fbxl7	C	A	15: 26,543,158 (GRCm38)	V468L	probably benign	Het
Fhl2	G	T	1: 43,141,851 (GRCm38)	H60N	probably damaging	Het
G6pc	G	T	11: 101,370,723 (GRCm38)	R83L	probably damaging	Het
Gata4	C	A	14: 63,204,617 (GRCm38)	R252L	probably damaging	Het
Glt8d1	T	A	14: 31,006,645 (GRCm38)	I10N	probably damaging	Het
Gm10471	T	A	5: 26,085,676 (GRCm38)	I166F	probably benign	Het
Gm10803	T	A	2: 93,563,959 (GRCm38)	Y25*	probably null	Het
Gm19345	T	C	7: 19,857,834 (GRCm38)	F108S	unknown	Het
Gm4952	A	G	19: 12,618,407 (GRCm38)	T54A	possibly damaging	Het
Gprc6a	C	T	10: 51,614,890 (GRCm38)	R921H	probably benign	Het
Hc	A	T	2: 35,050,438 (GRCm38)	H129Q	probably benign	Het
Heatr5a	T	C	12: 51,961,468 (GRCm38)	R31G	probably benign	Het
Hephl1	T	C	9: 15,060,810 (GRCm38)	K945E	possibly damaging	Het
Ik	G	T	18: 36,751,177 (GRCm38)	M237I	probably damaging	Het
Izumo1	T	A	7: 45,627,095 (GRCm38)	S361T	probably benign	Het
Kcnq4	A	G	4: 120,711,239 (GRCm38)	F427L	probably benign	Het
Kifap3	A	T	1: 163,825,859 (GRCm38)	N338I	possibly damaging	Het
Kifap3	T	A	1: 163,856,040 (GRCm38)	M430K	possibly damaging	Het
Lamb3	A	G	1: 193,304,565 (GRCm38)	E53G	probably damaging	Het
Lrp1b	A	T	2: 41,312,643 (GRCm38)	I1266K		Het
Nat8	A	T	6: 85,830,503 (GRCm38)	I216K	probably benign	Het
Ncapd2	T	C	6: 125,179,561 (GRCm38)	I454V	probably benign	Het
Nlrp4f	A	T	13: 65,195,306 (GRCm38)	V153E	probably damaging	Het
Nlrp4f	G	C	13: 65,199,352 (GRCm38)	Q9E	possibly damaging	Het
Npy2r	A	T	3: 82,540,943 (GRCm38)	I175N	probably benign	Het
Nutm1	G	A	2: 112,250,056 (GRCm38)	R505C	probably damaging	Het
Olfr1247	T	C	2: 89,610,019 (GRCm38)	M28V	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,874 (GRCm38)	T221A	probably benign	Het
Olfr665	C	T	7: 104,881,186 (GRCm38)	P160S	probably damaging	Het
Pcdh9	T	C	14: 93,888,272 (GRCm38)	N154S	probably damaging	Het
Pcdhb2	A	T	18: 37,295,881 (GRCm38)	E302D	probably benign	Het
Pclo	T	A	5: 14,858,822 (GRCm38)	V5048E	unknown	Het
Pcnt	A	G	10: 76,389,060 (GRCm38)	L1870S	possibly damaging	Het
Pigc	T	C	1: 161,970,592 (GRCm38)	Y48H	probably damaging	Het
Pisd	C	T	5: 32,738,502 (GRCm38)	V241I	possibly damaging	Het
Pkhd1l1	A	T	15: 44,573,637 (GRCm38)	M3464L	possibly damaging	Het
Pofut2	T	A	10: 77,259,426 (GRCm38)	I35N	probably benign	Het
Prss27	A	G	17: 24,045,658 (GRCm38)	Y265C	probably damaging	Het
Prss56	T	A	1: 87,188,153 (GRCm38)	I583K	probably benign	Het
Rnpep	T	C	1: 135,283,749 (GRCm38)	E87G	probably benign	Het
Shtn1	T	C	19: 59,018,906 (GRCm38)	H304R	probably damaging	Het
Slc23a4	A	T	6: 34,978,913 (GRCm38)	I62N	probably damaging	Het
Slc35e2	A	T	4: 155,618,594 (GRCm38)	I355F	probably benign	Het
Snx25	T	C	8: 46,035,715 (GRCm38)	I868V	possibly damaging	Het
Spatc1l	T	A	10: 76,569,931 (GRCm38)	L323Q	probably damaging	Het
Taok1	A	G	11: 77,537,988 (GRCm38)	V962A	probably benign	Het
Tas2r140	A	G	6: 133,055,519 (GRCm38)	I92T	probably benign	Het
Trim17	C	A	11: 58,965,184 (GRCm38)	Y22*	probably null	Het
Tti1	T	A	2: 158,007,676 (GRCm38)	M548L	probably benign	Het
Unc93b1	T	C	19: 3,935,204 (GRCm38)	V4A	unknown	Het
Utp3	G	C	5: 88,554,517 (GRCm38)		probably benign	Het
Vmn1r225	A	T	17: 20,502,384 (GRCm38)	Y29F	probably benign	Het
Vmn1r34	A	T	6: 66,637,664 (GRCm38)	I30N	probably benign	Het
Vmn2r67	T	A	7: 85,152,638 (GRCm38)	M152L	probably benign	Het
Wdr20rt	T	G	12: 65,225,918 (GRCm38)	F52V	probably benign	Het
Zfp869	G	T	8: 69,706,656 (GRCm38)	H422Q	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
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
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
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'- ACCTCCCAAAGTTGACATGG -3'
(R):5'- CACATTTCCTTGGGCCAAATGAC -3'

Sequencing Primer
(F):5'- TGACATGGTCAATGAAGAAATAGGC -3'
(R):5'- CTTGGGCCAAATGACCAGATCTG -3'

Posted On

2019-05-15