Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01395:Afg3l2'

79404

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Afg3l2

Ensembl Gene

ENSMUSG00000024527

Gene Name

AFG3-like AAA ATPase 2

Synonyms

Emv66, 2310036I02Rik, par

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01395

Quality Score

Status

Chromosome

Chromosomal Location

67537834-67582242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67575880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 52 (R52H)

Ref Sequence

ENSEMBL: ENSMUSP00000025408 (fasta)

Gene Model

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

AlphaFold

Q8JZQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000025408
AA Change: R52H

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: R52H

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	T	A	7: 97,027,383 (GRCm39)	Y84N	possibly damaging	Het
B3gnt4	T	A	5: 123,649,131 (GRCm39)	F165L	probably damaging	Het
Calcrl	T	C	2: 84,198,919 (GRCm39)	I157V	probably benign	Het
Clpx	T	C	9: 65,209,133 (GRCm39)	S83P	probably benign	Het
Col7a1	G	A	9: 108,812,980 (GRCm39)		probably benign	Het
Cttn	A	G	7: 144,011,464 (GRCm39)	V115A	probably damaging	Het
Dcaf1	G	A	9: 106,735,361 (GRCm39)	V770I	possibly damaging	Het
Ddx19a	A	G	8: 111,717,164 (GRCm39)		probably benign	Het
Dennd6a	T	A	14: 26,338,056 (GRCm39)	Y175*	probably null	Het
Dhx58	C	T	11: 100,594,752 (GRCm39)	G48D	probably damaging	Het
Dnah8	T	A	17: 30,854,979 (GRCm39)	F178I	probably benign	Het
Eif5b	T	C	1: 38,076,339 (GRCm39)	I629T	probably damaging	Het
Frrs1	A	G	3: 116,694,654 (GRCm39)	I492V	probably benign	Het
Gm16505	G	A	13: 3,411,242 (GRCm39)		noncoding transcript	Het
Golga4	G	A	9: 118,364,441 (GRCm39)	G259D	probably damaging	Het
Gpatch8	T	C	11: 102,371,534 (GRCm39)	H668R	unknown	Het
Gucy2c	G	T	6: 136,675,027 (GRCm39)	Q1019K	probably damaging	Het
Hivep2	T	C	10: 14,008,544 (GRCm39)		probably null	Het
Jph2	T	C	2: 163,181,847 (GRCm39)	N439S	probably benign	Het
Knl1	T	A	2: 118,902,047 (GRCm39)	D1249E	probably damaging	Het
Lrrc37a	A	G	11: 103,394,687 (GRCm39)	V246A	probably benign	Het
Mast1	T	C	8: 85,639,444 (GRCm39)	D1295G	possibly damaging	Het
Mical2	T	A	7: 111,922,792 (GRCm39)	M599K	probably damaging	Het
Nr3c2	T	C	8: 77,635,477 (GRCm39)	S193P	possibly damaging	Het
Nr4a2	T	A	2: 57,002,165 (GRCm39)	Q33L	probably damaging	Het
Nrap	A	T	19: 56,350,225 (GRCm39)	M514K	probably damaging	Het
Or1d2	T	C	11: 74,255,713 (GRCm39)	F73L	probably damaging	Het
Or5ac16	T	A	16: 59,022,460 (GRCm39)	T110S	possibly damaging	Het
Or9i2	A	T	19: 13,816,316 (GRCm39)	S74T	probably damaging	Het
Pde5a	T	C	3: 122,611,604 (GRCm39)	I514T	probably benign	Het
Plxna4	A	G	6: 32,216,368 (GRCm39)	V569A	probably damaging	Het
Ppm1k	T	C	6: 57,490,943 (GRCm39)	H324R	probably benign	Het
Prdm5	A	G	6: 65,847,374 (GRCm39)	H155R	possibly damaging	Het
Prpf19	C	T	19: 10,878,375 (GRCm39)	T287I	probably damaging	Het
Prpf8	C	A	11: 75,385,121 (GRCm39)	A794D	possibly damaging	Het
Pygb	C	A	2: 150,643,503 (GRCm39)	Q97K	probably benign	Het
Rab27b	T	C	18: 70,118,288 (GRCm39)	K210E	probably benign	Het
Rttn	T	G	18: 89,147,894 (GRCm39)	N2182K	possibly damaging	Het
Rusc1	T	C	3: 88,999,728 (GRCm39)	Q18R	probably damaging	Het
Stat4	C	T	1: 52,051,033 (GRCm39)	R31W	probably damaging	Het
Tas2r135	T	A	6: 42,382,846 (GRCm39)	C128*	probably null	Het
Tm9sf3	T	C	19: 41,244,715 (GRCm39)	E54G	probably damaging	Het
Tmx1	A	T	12: 70,507,251 (GRCm39)		probably null	Het
Tnrc6c	T	A	11: 117,613,939 (GRCm39)	V859E	probably benign	Het
Uggt1	T	C	1: 36,194,158 (GRCm39)	D1360G	probably damaging	Het

Other mutations in Afg3l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Afg3l2	APN	18	67,564,723 (GRCm39)	critical splice donor site	probably null
IGL01533:Afg3l2	APN	18	67,538,488 (GRCm39)	nonsense	probably null
IGL01814:Afg3l2	APN	18	67,538,544 (GRCm39)	missense	probably benign	0.23
IGL01868:Afg3l2	APN	18	67,547,218 (GRCm39)	missense	possibly damaging	0.83
IGL02399:Afg3l2	APN	18	67,562,110 (GRCm39)	missense	possibly damaging	0.82
IGL02827:Afg3l2	APN	18	67,559,015 (GRCm39)	missense	probably damaging	1.00
IGL03342:Afg3l2	APN	18	67,540,390 (GRCm39)	missense	probably benign
IGL03392:Afg3l2	APN	18	67,547,139 (GRCm39)	splice site	probably benign
radicle	UTSW	18	67,556,023 (GRCm39)	missense	probably damaging	1.00
rootlet	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R0057:Afg3l2	UTSW	18	67,556,156 (GRCm39)	missense	probably damaging	1.00
R0107:Afg3l2	UTSW	18	67,564,836 (GRCm39)	missense	probably damaging	1.00
R0650:Afg3l2	UTSW	18	67,548,627 (GRCm39)	missense	possibly damaging	0.77
R0831:Afg3l2	UTSW	18	67,554,297 (GRCm39)	missense	probably damaging	1.00
R0899:Afg3l2	UTSW	18	67,556,047 (GRCm39)	missense	possibly damaging	0.65
R0962:Afg3l2	UTSW	18	67,538,497 (GRCm39)	missense	possibly damaging	0.77
R1672:Afg3l2	UTSW	18	67,540,493 (GRCm39)	missense	probably benign	0.31
R1815:Afg3l2	UTSW	18	67,548,643 (GRCm39)	nonsense	probably null
R1838:Afg3l2	UTSW	18	67,547,242 (GRCm39)	missense	probably damaging	0.99
R2013:Afg3l2	UTSW	18	67,564,842 (GRCm39)	missense	probably damaging	0.99
R2383:Afg3l2	UTSW	18	67,556,026 (GRCm39)	missense	possibly damaging	0.91
R2906:Afg3l2	UTSW	18	67,573,292 (GRCm39)	missense	probably damaging	1.00
R4763:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R4765:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R4775:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5193:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5196:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5197:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5257:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5361:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5362:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5363:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5397:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5588:Afg3l2	UTSW	18	67,573,277 (GRCm39)	missense	possibly damaging	0.88
R5605:Afg3l2	UTSW	18	67,575,425 (GRCm39)	nonsense	probably null
R5696:Afg3l2	UTSW	18	67,540,529 (GRCm39)	missense	probably damaging	1.00
R5722:Afg3l2	UTSW	18	67,573,269 (GRCm39)	missense	probably benign	0.44
R5779:Afg3l2	UTSW	18	67,573,513 (GRCm39)	missense	probably null	0.12
R5972:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5973:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5974:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5979:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R5994:Afg3l2	UTSW	18	67,562,140 (GRCm39)	missense	probably damaging	1.00
R6026:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6027:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6028:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6029:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6033:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6033:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6035:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6035:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6075:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6077:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6081:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6131:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6132:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6134:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6152:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6154:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6169:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6178:Afg3l2	UTSW	18	67,542,598 (GRCm39)	missense	possibly damaging	0.91
R6187:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6216:Afg3l2	UTSW	18	67,554,329 (GRCm39)	missense	probably damaging	1.00
R6718:Afg3l2	UTSW	18	67,554,346 (GRCm39)	missense	probably damaging	1.00
R7388:Afg3l2	UTSW	18	67,556,023 (GRCm39)	missense	probably damaging	1.00
R8479:Afg3l2	UTSW	18	67,581,986 (GRCm39)	missense	probably benign	0.05
R8531:Afg3l2	UTSW	18	67,540,439 (GRCm39)	missense	probably damaging	0.99
R9017:Afg3l2	UTSW	18	67,542,550 (GRCm39)	missense	possibly damaging	0.81
R9220:Afg3l2	UTSW	18	67,562,266 (GRCm39)	missense	probably benign
R9222:Afg3l2	UTSW	18	67,567,257 (GRCm39)	missense	probably benign	0.05
R9371:Afg3l2	UTSW	18	67,567,262 (GRCm39)	missense	possibly damaging	0.84
R9381:Afg3l2	UTSW	18	67,575,451 (GRCm39)	missense	probably damaging	1.00
R9562:Afg3l2	UTSW	18	67,554,365 (GRCm39)	missense	probably damaging	1.00
Z1176:Afg3l2	UTSW	18	67,564,777 (GRCm39)	missense	probably benign	0.44

Posted On

2013-11-05