Mutagenetix > Incidental Mutation

Incidental Mutation 'R9762:Efl1'

733074

Institutional Source

Beutler Lab

Gene Symbol

Efl1

Ensembl Gene

ENSMUSG00000038563

Gene Name

elongation factor like GTPase 1

Synonyms

D7Ertd791e, 6030468D11Rik, 4932434J20Rik, Eftud1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R9762 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82297822-82427060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 82412596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 995 (D995A)

Ref Sequence

ENSEMBL: ENSMUSP00000046046 (fasta)

Gene Model

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

AlphaFold

Q8C0D5

Predicted Effect

probably benign
Transcript: ENSMUST00000039881
AA Change: D995A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: D995A

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: ENSMUST00000179489
AA Change: D995A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: D995A

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

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
Ablim1	G	T	19: 57,025,691 (GRCm39)	R851S	probably damaging	Het
Acap2	C	A	16: 30,929,763 (GRCm39)	A407S	probably damaging	Het
Adam26a	A	T	8: 44,021,635 (GRCm39)	S618R	probably benign	Het
Adamtsl5	T	C	10: 80,180,896 (GRCm39)	Y89C	probably damaging	Het
Aebp2	T	A	6: 140,588,021 (GRCm39)	S364T	probably damaging	Het
Ankfy1	A	G	11: 72,621,401 (GRCm39)	E229G	probably benign	Het
Arhgap27	G	T	11: 103,251,511 (GRCm39)	D72E	probably benign	Het
Arhgap33	T	C	7: 30,230,950 (GRCm39)	E191G	probably null	Het
Atp6v0a1	C	T	11: 100,946,427 (GRCm39)	H807Y	possibly damaging	Het
Ccdc113	A	C	8: 96,272,605 (GRCm39)	E237D	probably benign	Het
Cd200r2	T	A	16: 44,729,420 (GRCm39)	I25K	probably benign	Het
Cd300c2	A	G	11: 114,887,775 (GRCm39)	V209A	probably damaging	Het
Cdkn2d	T	A	9: 21,200,383 (GRCm39)	E129D	probably benign	Het
Cfap251	A	G	5: 123,460,533 (GRCm39)	Y1165C	probably damaging	Het
Chd9	A	T	8: 91,712,741 (GRCm39)	N855Y	unknown	Het
Cntn3	A	G	6: 102,254,196 (GRCm39)	C249R	probably damaging	Het
Col12a1	T	C	9: 79,527,266 (GRCm39)	E2688G	possibly damaging	Het
Copb2	C	T	9: 98,464,901 (GRCm39)	T612I	probably benign	Het
Cplx1	A	T	5: 108,673,378 (GRCm39)	D29E	possibly damaging	Het
Cracd	A	G	5: 77,006,555 (GRCm39)	K972R	unknown	Het
Cstf3	A	T	2: 104,494,684 (GRCm39)	R645*	probably null	Het
Ctdp1	A	T	18: 80,492,550 (GRCm39)	Y648*	probably null	Het
Daam1	T	A	12: 71,990,855 (GRCm39)	D156E	unknown	Het
Dbn1	G	A	13: 55,622,824 (GRCm39)	P599L	probably damaging	Het
Diaph1	C	A	18: 37,987,589 (GRCm39)	V1056F	probably damaging	Het
Dzip3	A	T	16: 48,748,707 (GRCm39)	D870E	probably damaging	Het
Efcab12	T	C	6: 115,800,331 (GRCm39)	T231A	possibly damaging	Het
Fam186a	T	C	15: 99,842,393 (GRCm39)	T1284A	possibly damaging	Het
Fbxo33	T	C	12: 59,251,708 (GRCm39)	E269G	probably benign	Het
Foxj3	T	A	4: 119,483,540 (GRCm39)	M604K	unknown	Het
Gabra4	A	G	5: 71,814,463 (GRCm39)	S86P	unknown	Het
Gnas	G	A	2: 174,140,639 (GRCm39)	W269*	probably null	Het
Gpc6	T	G	14: 118,202,258 (GRCm39)	N489K	probably damaging	Het
Gprin3	T	C	6: 59,331,236 (GRCm39)	K357R	possibly damaging	Het
Grip1	G	T	10: 119,811,906 (GRCm39)	A286S	possibly damaging	Het
Grm4	A	T	17: 27,721,688 (GRCm39)	V151E	probably damaging	Het
Gucy1b1	A	T	3: 81,942,065 (GRCm39)	S565T	possibly damaging	Het
Hace1	T	C	10: 45,525,014 (GRCm39)	V260A	probably benign	Het
Hepacam2	A	G	6: 3,486,940 (GRCm39)	I139T	probably damaging	Het
Hspa4l	T	C	3: 40,727,057 (GRCm39)	I486T	probably benign	Het
Igkv8-19	T	C	6: 70,317,866 (GRCm39)	Y120C	probably damaging	Het
Iglv2	C	T	16: 19,079,548 (GRCm39)		probably benign	Het
Igsf10	A	T	3: 59,237,106 (GRCm39)	L1025H	probably damaging	Het
Itpkb	A	G	1: 180,161,752 (GRCm39)	N626S	probably benign	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Klc3	C	T	7: 19,132,023 (GRCm39)	W118*	probably null	Het
Klhl25	C	T	7: 75,516,741 (GRCm39)	T549I	probably damaging	Het
Krtap6-2	T	A	16: 89,216,763 (GRCm39)	Y68F	unknown	Het
Mtcl1	T	C	17: 66,673,347 (GRCm39)	N1121D	probably benign	Het
Ncbp3	A	G	11: 72,961,668 (GRCm39)	K314R	probably benign	Het
Nop2	T	C	6: 125,121,272 (GRCm39)	W685R	probably benign	Het
Orc1	T	A	4: 108,447,874 (GRCm39)	D40E	probably benign	Het
Pappa2	G	T	1: 158,684,948 (GRCm39)	N730K	probably damaging	Het
Parpbp	A	G	10: 87,960,815 (GRCm39)	S224P	possibly damaging	Het
Pdgfc	A	G	3: 80,944,792 (GRCm39)	R17G	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pik3r6	T	A	11: 68,424,358 (GRCm39)	L321*	probably null	Het
Pnp2	T	C	14: 51,197,006 (GRCm39)	W31R	probably damaging	Het
Prr12	T	C	7: 44,696,954 (GRCm39)	Y987C	unknown	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Prss23	T	C	7: 89,159,683 (GRCm39)	I129V	probably damaging	Het
Rhno1	T	C	6: 128,336,119 (GRCm39)	T39A	probably damaging	Het
Rps2	A	T	17: 24,940,810 (GRCm39)	R279*	probably null	Het
Ski	T	C	4: 155,244,344 (GRCm39)	K427R	probably damaging	Het
Slc23a3	ATT	ATTT	1: 75,109,925 (GRCm39)		probably null	Het
Slc26a7	C	T	4: 14,546,372 (GRCm39)	G319D	probably damaging	Het
Slc7a6os	A	G	8: 106,937,523 (GRCm39)	V8A	probably damaging	Het
Smim8	A	C	4: 34,771,265 (GRCm39)	I43S	probably damaging	Het
Sox5	T	C	6: 143,819,842 (GRCm39)	K400R	probably damaging	Het
Tab1	G	A	15: 80,032,943 (GRCm39)	V76M	probably damaging	Het
Taf2	A	C	15: 54,894,440 (GRCm39)		probably null	Het
Taf5	G	A	19: 47,059,434 (GRCm39)	V193M	probably damaging	Het
Tm2d1	A	T	4: 98,246,261 (GRCm39)	S180R	probably damaging	Het
Ttc12	A	G	9: 49,368,166 (GRCm39)	F287S	probably damaging	Het
Ubqln4	G	A	3: 88,473,185 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,839,497 (GRCm39)	V1537A	probably benign	Het
Ugt8a	A	G	3: 125,708,900 (GRCm39)	L70P	probably damaging	Het
Vps26a	A	T	10: 62,316,433 (GRCm39)	N51K	probably benign	Het
Xkr5	T	A	8: 18,990,749 (GRCm39)	T173S	probably benign	Het
Zfp354c	A	G	11: 50,706,239 (GRCm39)	C279R	probably damaging	Het
Zfp65	T	A	13: 67,856,478 (GRCm39)	H267L	probably damaging	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
R1290:Efl1	UTSW	7	82,320,936 (GRCm39)	missense	probably damaging	1.00
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
Z1088:Efl1	UTSW	7	82,342,058 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGTCACGTTGGAGATGAAAAC -3'
(R):5'- AGCCATGTATTTTCCATGCTGAG -3'

Sequencing Primer
(F):5'- CCAAGAGCAACAAGATGTCTG -3'
(R):5'- GAGAATTTAAGATACAGGTCTCTGGC -3'

Posted On

2022-11-14