Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03392:Afg3l2'

421126

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Afg3l2

Ensembl Gene

ENSMUSG00000024527

Gene Name

AFG3-like AAA ATPase 2

Synonyms

2310036I02Rik, Emv66, par

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03392

Quality Score

Status

Chromosome

Chromosomal Location

67404767-67449166 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 67414069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025408 (fasta)

Gene Model

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

AlphaFold

Q8JZQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000025408

SMART Domains

Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527

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

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,562,011	D692E	probably damaging	Het
Adgrb3	T	A	1: 25,504,448	R366S	probably damaging	Het
Cd5	T	C	19: 10,726,289		probably benign	Het
Cnbd1	A	G	4: 18,862,111	S360P	probably damaging	Het
Col13a1	A	T	10: 61,885,711	L305I	possibly damaging	Het
Commd7	A	T	2: 153,622,764		probably benign	Het
Cpsf6	A	T	10: 117,367,979	Y23N	probably damaging	Het
Cry1	A	G	10: 85,157,129	V75A	possibly damaging	Het
Cyp2c39	A	G	19: 39,513,323	N107D	probably benign	Het
Dcaf11	T	A	14: 55,561,421	V45E	probably damaging	Het
Dnm2	A	G	9: 21,474,611	E310G	probably damaging	Het
Fat3	T	A	9: 16,003,862	I1597L	probably benign	Het
Fcamr	A	G	1: 130,800,948		probably benign	Het
Fer	A	G	17: 63,991,642	I529V	probably damaging	Het
Fhdc1	T	C	3: 84,444,519	K1133R	possibly damaging	Het
Foxd3	A	G	4: 99,657,195	K191E	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gbp8	A	G	5: 105,016,544		probably null	Het
Glb1	T	G	9: 114,430,321	N106K	probably damaging	Het
Hpx	A	G	7: 105,592,402	I295T	probably damaging	Het
Ipo5	T	A	14: 120,942,687	D844E	probably damaging	Het
Krt17	T	C	11: 100,259,735	I159V	possibly damaging	Het
Lgi4	G	A	7: 31,063,180		probably null	Het
Lrrc49	T	C	9: 60,666,280		probably benign	Het
Ltn1	T	C	16: 87,425,611	K178R	probably damaging	Het
Myh8	T	A	11: 67,294,418	W832R	probably damaging	Het
Nbn	A	G	4: 15,962,362	N30S	probably damaging	Het
Olfr1245	A	T	2: 89,575,249	V159D	probably damaging	Het
Olfr1312	T	A	2: 112,042,976	N19Y	probably benign	Het
Olfr137	A	G	17: 38,304,895	S189P	probably benign	Het
Olfr632	T	C	7: 103,938,025	V215A	probably benign	Het
Pcdh15	A	T	10: 74,624,272	I1314F	probably damaging	Het
Phf14	G	A	6: 11,962,659	S435N	probably damaging	Het
Prss45	T	A	9: 110,840,550	Y231*	probably null	Het
Pus7l	T	C	15: 94,536,568	D339G	probably damaging	Het
Sbk2	A	G	7: 4,957,409	F254S	probably damaging	Het
Serpina1b	T	G	12: 103,732,070	K173N	possibly damaging	Het
Slc13a5	G	A	11: 72,245,178	T469I	probably damaging	Het
Spon1	A	G	7: 114,034,287	E655G	probably damaging	Het
Sv2b	T	C	7: 75,156,760		probably null	Het
Treh	A	G	9: 44,685,931	D514G	probably damaging	Het
Umodl1	T	A	17: 30,996,355	L1051Q	probably damaging	Het
Usp5	A	G	6: 124,826,387	F4S	probably damaging	Het
Vmn1r16	A	G	6: 57,322,894	S248P	probably damaging	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
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
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

Posted On

2016-08-02