Mutagenetix > Incidental Mutation

Incidental Mutation 'R6033:Afg3l2'

480538

Institutional Source

Beutler Lab

Gene Symbol

Afg3l2

Ensembl Gene

ENSMUSG00000024527

Gene Name

AFG3-like AAA ATPase 2

Synonyms

2310036I02Rik, Emv66, par

MMRRC Submission

044205-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67404767-67449166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 67421259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 458 (L458M)

Ref Sequence

ENSEMBL: ENSMUSP00000025408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025408]

AlphaFold

Q8JZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000025408
AA Change: L458M

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

SMART Domains

Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: L458M

Domain	Start	End	E-Value	Type
low complexity region	95	121	N/A	INTRINSIC
Pfam:FtsH_ext	144	241	8.8e-12	PFAM
transmembrane domain	251	270	N/A	INTRINSIC
low complexity region	271	286	N/A	INTRINSIC
AAA	339	478	1.37e-23	SMART
Pfam:Peptidase_M41	540	743	4e-77	PFAM
low complexity region	780	794	N/A	INTRINSIC

Meta Mutation Damage Score

0.3865

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.9%
20x: 89.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations in this gene usually die before weaning. Mice develop progressive paralysis as a result of abnormalities in the axons innervating muscle endplates. Mice homozygous for a conditional allele activated in Purkinje cells exhibit abnormal gait and Purkinje cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,178,372	E72G	probably damaging	Het
Adgrl1	T	A	8: 83,918,922	V58E	probably damaging	Het
Alas1	A	G	9: 106,241,204	S240P	probably damaging	Het
Alox12e	C	T	11: 70,316,013	G616D	probably benign	Het
Arhgap8	A	G	15: 84,741,925	E67G	probably damaging	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Ccdc150	G	T	1: 54,285,628		probably null	Het
Cmtm8	T	C	9: 114,796,073	T97A	probably damaging	Het
Cnmd	T	C	14: 79,661,505	S36G	probably benign	Het
Dnah3	A	C	7: 120,071,647	N609K	probably benign	Het
Dph1	C	T	11: 75,191,197		probably benign	Het
Drosha	G	A	15: 12,925,999	A1225T	probably benign	Het
Eid3	T	A	10: 82,867,653	I316K	probably damaging	Het
Erich6	A	G	3: 58,623,201	L449S	probably benign	Het
Fhod1	T	C	8: 105,336,434		probably benign	Het
Glra1	A	G	11: 55,527,419	Y250H	probably damaging	Het
Gm6768	A	G	12: 119,261,740		noncoding transcript	Het
Hivep1	A	G	13: 42,157,107	E941G	probably benign	Het
Homer2	A	C	7: 81,618,679	S78A	possibly damaging	Het
Ica1	T	A	6: 8,630,799		probably null	Het
Ifna12	T	C	4: 88,602,917	E131G	possibly damaging	Het
Igbp1b	T	C	6: 138,658,209	Y79C	probably damaging	Het
Incenp	C	T	19: 9,872,697	V871I	probably damaging	Het
Jaml	G	A	9: 45,088,710	G60D	probably damaging	Het
Kcp	C	T	6: 29,493,194	C110Y	probably damaging	Het
Manba	T	C	3: 135,549,261	V460A	probably benign	Het
Myrfl	A	T	10: 116,849,101	C125S	probably benign	Het
Ncan	T	C	8: 70,112,590	D229G	probably damaging	Het
Nlrp10	A	T	7: 108,924,577	D565E	probably benign	Het
Npas2	T	C	1: 39,338,180	V541A	probably damaging	Het
Nsg2	G	A	11: 32,055,058	V87M	possibly damaging	Het
Olfr1040	A	T	2: 86,146,269	V155E	probably damaging	Het
Prkd2	C	T	7: 16,865,714	R701C	probably damaging	Het
Prss36	T	C	7: 127,934,567	R22G	probably benign	Het
Psmd1	T	C	1: 86,137,095	Y950H	probably damaging	Het
Slc45a4	G	A	15: 73,581,976	A716V	probably damaging	Het
Slc46a1	T	C	11: 78,466,007		probably null	Het
Slc6a5	T	C	7: 49,959,351	I768T	probably benign	Het
Slco6c1	C	T	1: 97,081,316		probably null	Het
Taar2	A	T	10: 23,940,976	H138L	probably benign	Het
Taf2	A	C	15: 55,058,901	L330R	probably damaging	Het
Tgm5	T	C	2: 121,070,729		probably null	Het
Tmed4	A	T	11: 6,274,491	Y56*	probably null	Het
Tmem156	A	T	5: 65,075,621	F135L	probably benign	Het
Ttll6	T	C	11: 96,134,887	S65P	probably damaging	Het
Ttn	C	T	2: 76,726,827	G28199R	probably damaging	Het
Ubn2	T	A	6: 38,470,224		probably null	Het
Unc80	A	T	1: 66,473,260	T110S	possibly damaging	Het
Vmn2r72	A	T	7: 85,737,929	V809E	probably damaging	Het
Zbtb2	A	G	10: 4,368,599	F476L	probably damaging	Het
Zbtb24	T	C	10: 41,464,401	F498L	probably damaging	Het
Zfp280d	T	A	9: 72,329,137	L494Q	probably damaging	Het
Zfp281	T	C	1: 136,626,726	S481P	probably benign	Het

Other mutations in Afg3l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Afg3l2	APN	18	67431653	critical splice donor site	probably null
IGL01395:Afg3l2	APN	18	67442810	missense	probably benign	0.21
IGL01533:Afg3l2	APN	18	67405418	nonsense	probably null
IGL01814:Afg3l2	APN	18	67405474	missense	probably benign	0.23
IGL01868:Afg3l2	APN	18	67414148	missense	possibly damaging	0.83
IGL02399:Afg3l2	APN	18	67429040	missense	possibly damaging	0.82
IGL02827:Afg3l2	APN	18	67425945	missense	probably damaging	1.00
IGL03342:Afg3l2	APN	18	67407320	missense	probably benign
IGL03392:Afg3l2	APN	18	67414069	splice site	probably benign
radicle	UTSW	18	67422953	missense	probably damaging	1.00
rootlet	UTSW	18	67421259	missense	probably damaging	1.00
R0057:Afg3l2	UTSW	18	67423086	missense	probably damaging	1.00
R0107:Afg3l2	UTSW	18	67431766	missense	probably damaging	1.00
R0650:Afg3l2	UTSW	18	67415557	missense	possibly damaging	0.77
R0831:Afg3l2	UTSW	18	67421227	missense	probably damaging	1.00
R0899:Afg3l2	UTSW	18	67422977	missense	possibly damaging	0.65
R0962:Afg3l2	UTSW	18	67405427	missense	possibly damaging	0.77
R1672:Afg3l2	UTSW	18	67407423	missense	probably benign	0.31
R1815:Afg3l2	UTSW	18	67415573	nonsense	probably null
R1838:Afg3l2	UTSW	18	67414172	missense	probably damaging	0.99
R2013:Afg3l2	UTSW	18	67431772	missense	probably damaging	0.99
R2383:Afg3l2	UTSW	18	67422956	missense	possibly damaging	0.91
R2906:Afg3l2	UTSW	18	67440222	missense	probably damaging	1.00
R4763:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R4765:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R4775:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5193:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5196:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5197:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5257:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5361:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5362:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5363:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5397:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5588:Afg3l2	UTSW	18	67440207	missense	possibly damaging	0.88
R5605:Afg3l2	UTSW	18	67442355	nonsense	probably null
R5696:Afg3l2	UTSW	18	67407459	missense	probably damaging	1.00
R5722:Afg3l2	UTSW	18	67440199	missense	probably benign	0.44
R5779:Afg3l2	UTSW	18	67440443	missense	probably null	0.12
R5972:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5973:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5974:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5979:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R5994:Afg3l2	UTSW	18	67429070	missense	probably damaging	1.00
R6026:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6027:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6028:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6029:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6033:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6035:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6035:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6075:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6077:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6081:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6131:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6132:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6134:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6152:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6154:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6169:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6178:Afg3l2	UTSW	18	67409528	missense	possibly damaging	0.91
R6187:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6216:Afg3l2	UTSW	18	67421259	missense	probably damaging	1.00
R6718:Afg3l2	UTSW	18	67421276	missense	probably damaging	1.00
R7388:Afg3l2	UTSW	18	67422953	missense	probably damaging	1.00
R8479:Afg3l2	UTSW	18	67448916	missense	probably benign	0.05
R8531:Afg3l2	UTSW	18	67407369	missense	probably damaging	0.99
R9017:Afg3l2	UTSW	18	67409480	missense	possibly damaging	0.81
R9220:Afg3l2	UTSW	18	67429196	missense	probably benign
R9222:Afg3l2	UTSW	18	67434187	missense	probably benign	0.05
R9371:Afg3l2	UTSW	18	67434192	missense	possibly damaging	0.84
R9381:Afg3l2	UTSW	18	67442381	missense	probably damaging	1.00
R9562:Afg3l2	UTSW	18	67421295	missense	probably damaging	1.00
Z1176:Afg3l2	UTSW	18	67431707	missense	probably benign	0.44

Predicted Primers

Posted On

2017-06-26