Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01868:Afg3l2'

178599

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01868

Quality Score

Status

Chromosome

Chromosomal Location

67404767-67449166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67414148 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 569 (T569M)

Ref Sequence

ENSEMBL: ENSMUSP00000025408 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025408
AA Change: T569M

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: T569M

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l1	A	T	6: 90,583,230	K620*	probably null	Het
Amdhd2	G	T	17: 24,157,530	T346K	probably damaging	Het
Arhgap44	T	C	11: 65,012,078	D521G	probably damaging	Het
Ccdc146	C	A	5: 21,333,054	A91S	probably damaging	Het
Ccdc187	C	A	2: 26,280,948	R506L	probably benign	Het
Cd37	T	C	7: 45,236,179	Q128R	probably benign	Het
Cdh22	T	A	2: 165,157,358	M185L	probably damaging	Het
Cib2	A	T	9: 54,548,475	N68K	probably damaging	Het
Ddx46	C	T	13: 55,639,870	R96*	probably null	Het
Dnajc13	A	T	9: 104,162,745	H2050Q	possibly damaging	Het
Duox1	A	G	2: 122,338,407	H1172R	probably benign	Het
Eftud2	C	T	11: 102,869,127	V132I	probably benign	Het
Fcrl5	G	A	3: 87,443,707	D87N	possibly damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14548	G	A	7: 3,897,175	Q143*	probably null	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Kat6a	T	C	8: 22,926,455	F660L	probably damaging	Het
Lipo2	T	C	19: 33,730,838	M259V	probably benign	Het
Lrrcc1	T	A	3: 14,554,357	L90*	probably null	Het
Lsm1	G	A	8: 25,793,793		probably null	Het
Luzp1	T	C	4: 136,542,737	I757T	probably damaging	Het
Micall1	A	G	15: 79,115,060	I76V	probably benign	Het
Mmp21	A	T	7: 133,675,914	D394E	probably damaging	Het
Mtfr1l	T	C	4: 134,530,707	D68G	probably null	Het
Necab2	A	G	8: 119,462,576	S162G	probably benign	Het
Olfr1186	T	C	2: 88,525,715	V44A	possibly damaging	Het
Olfr429	C	T	1: 174,089,370	T110I	possibly damaging	Het
Olfr64	G	A	7: 103,893,376	R120*	probably null	Het
Olfr96	A	T	17: 37,225,152	Q9L	probably benign	Het
Pde7b	A	T	10: 20,407,165	C376*	probably null	Het
Plcb2	A	G	2: 118,709,590	L1074P	probably damaging	Het
Plcb2	G	T	2: 118,711,387	T914N	probably benign	Het
Prph	C	A	15: 99,056,343	D207E	probably damaging	Het
Prrxl1	C	A	14: 32,608,377	F150L	probably damaging	Het
Rbp4	C	A	19: 38,124,520	R37L	probably damaging	Het
Ryr3	T	C	2: 112,803,158		probably benign	Het
Sardh	T	G	2: 27,227,147	Q496P	probably benign	Het
Serpina1f	T	A	12: 103,693,445	N193Y	probably benign	Het
Slc10a7	G	A	8: 78,697,336		probably null	Het
Spg7	T	C	8: 123,090,236		probably null	Het
Sphkap	T	C	1: 83,280,399		probably null	Het
Tas2r121	T	A	6: 132,700,272	I246L	probably benign	Het
Tbc1d9b	T	C	11: 50,161,633	F889S	probably damaging	Het
Tcp10a	T	C	17: 7,329,864	M140T	possibly damaging	Het
Tctn2	G	A	5: 124,616,528		noncoding transcript	Het
Tfap2b	G	T	1: 19,214,282	R138L	probably damaging	Het
Tnrc18	T	C	5: 142,771,812	T985A	unknown	Het
Treml1	G	A	17: 48,366,007	V211I	probably benign	Het
Ubr4	C	T	4: 139,412,678	Q1191*	probably null	Het
Vim	G	A	2: 13,578,438	R217H	possibly damaging	Het
Vmn2r77	A	G	7: 86,803,016	D468G	probably benign	Het
Vmn2r98	G	T	17: 19,066,286	V349F	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vwa7	A	T	17: 35,021,259	E401V	probably null	Het
Zfp119b	C	A	17: 55,939,866	V75L	possibly damaging	Het
Zfp287	C	T	11: 62,715,257	E275K	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
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
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
Z1176:Afg3l2	UTSW	18	67431707	missense	probably benign	0.44

Posted On

2014-05-07