Mutagenetix > Incidental Mutations

Incidental Mutation 'R7116:Afg3l1'

551780

Institutional Source

Beutler Lab

Gene Symbol

Afg3l1

Ensembl Gene

ENSMUSG00000031967

Gene Name

AFG3-like AAA ATPase 1

Synonyms

3110061K15Rik, 1700047G05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123477903-123503916 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 123489862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 280 (L280R)

Ref Sequence

ENSEMBL: ENSMUSP00000001520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001520] [ENSMUST00000098320] [ENSMUST00000127664]

AlphaFold

Q920A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000001520
AA Change: L280R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: L280R

Domain	Start	End	E-Value	Type
low complexity region	79	88	N/A	INTRINSIC
low complexity region	106	120	N/A	INTRINSIC
Pfam:FtsH_ext	141	235	1.2e-8	PFAM
low complexity region	265	279	N/A	INTRINSIC
AAA	332	471	3.67e-24	SMART
Pfam:Peptidase_M41	533	736	6.1e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098320
AA Change: L280R

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

SMART Domains

Protein: ENSMUSP00000095924
Gene: ENSMUSG00000031967
AA Change: L280R

Domain	Start	End	E-Value	Type
low complexity region	79	88	N/A	INTRINSIC
low complexity region	106	120	N/A	INTRINSIC
Pfam:FtsH_ext	141	235	6.5e-9	PFAM
low complexity region	265	279	N/A	INTRINSIC
AAA	332	471	3.67e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no detectable myelination defects or axonal degeneration in the brain and spinal cord and normal mitochondria in the spinal cord. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	Het

Other mutations in Afg3l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Afg3l1	APN	8	123487389	missense	probably benign	0.01
IGL01547:Afg3l1	APN	8	123501351	missense	probably benign	0.17
IGL01612:Afg3l1	APN	8	123494853	missense	probably benign	0.01
IGL01616:Afg3l1	APN	8	123502007	missense	probably damaging	1.00
IGL01969:Afg3l1	APN	8	123480431	missense	probably damaging	1.00
IGL01996:Afg3l1	APN	8	123501894	missense	probably damaging	0.99
IGL02591:Afg3l1	APN	8	123486009	missense	probably damaging	1.00
R0370:Afg3l1	UTSW	8	123501554	missense	probably damaging	1.00
R1775:Afg3l1	UTSW	8	123492900	missense	possibly damaging	0.89
R1817:Afg3l1	UTSW	8	123501931	missense	probably damaging	0.99
R2152:Afg3l1	UTSW	8	123494836	missense	probably damaging	1.00
R2516:Afg3l1	UTSW	8	123501954	missense	probably damaging	0.99
R2844:Afg3l1	UTSW	8	123494939	intron	probably benign
R3013:Afg3l1	UTSW	8	123484677	missense	probably benign	0.27
R3732:Afg3l1	UTSW	8	123501233	missense	probably damaging	1.00
R4565:Afg3l1	UTSW	8	123501869	nonsense	probably null
R4603:Afg3l1	UTSW	8	123501935	missense	probably benign	0.43
R4888:Afg3l1	UTSW	8	123488326	critical splice donor site	probably null
R4932:Afg3l1	UTSW	8	123501380	missense	probably damaging	1.00
R4970:Afg3l1	UTSW	8	123498653	missense	probably benign	0.04
R5027:Afg3l1	UTSW	8	123489814	missense	probably benign	0.00
R5133:Afg3l1	UTSW	8	123489793	missense	probably benign	0.16
R5457:Afg3l1	UTSW	8	123489968	missense	possibly damaging	0.88
R5911:Afg3l1	UTSW	8	123500039	missense	possibly damaging	0.79
R6268:Afg3l1	UTSW	8	123492926	missense	probably damaging	1.00
R7303:Afg3l1	UTSW	8	123501269	missense	probably damaging	1.00
R7646:Afg3l1	UTSW	8	123493027	missense	possibly damaging	0.85
R7945:Afg3l1	UTSW	8	123489922	missense	probably benign	0.01
R8466:Afg3l1	UTSW	8	123489909	missense	probably benign	0.31
R8694:Afg3l1	UTSW	8	123501234	missense	probably damaging	1.00
R8806:Afg3l1	UTSW	8	123493918	missense	probably damaging	1.00
Z1088:Afg3l1	UTSW	8	123488242	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- AGAAACTGCCTCTTTCGTGC -3'
(R):5'- CTGTTTCCTGAACATGATACCTTTG -3'

Sequencing Primer
(F):5'- CTTTCGTGCAGTGAAAGTTTTAGTG -3'
(R):5'- ACCTTTGGAATTTTGGCTCCTAAG -3'

Posted On

2019-05-15