Mutagenetix > Incidental Mutation

Incidental Mutation 'R6718:Afg3l2'

529476

Institutional Source

Beutler Lab

Gene Symbol

Afg3l2

Ensembl Gene

ENSMUSG00000024527

Gene Name

AFG3-like AAA ATPase 2

Synonyms

Emv66, 2310036I02Rik, par

MMRRC Submission

044836-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6718 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67537834-67582242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67554346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 452 (T452I)

Ref Sequence

ENSEMBL: ENSMUSP00000025408 (fasta)

Gene Model

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

AlphaFold

Q8JZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000025408
AA Change: T452I

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

SMART Domains

Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: T452I

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb8	A	G	15: 98,034,015 (GRCm39)	I180T	probably benign	Het
Cdh18	A	G	15: 23,226,835 (GRCm39)	T45A	probably benign	Het
Col12a1	T	A	9: 79,606,887 (GRCm39)	Y512F	probably damaging	Het
Col6a1	A	G	10: 76,560,884 (GRCm39)	F38S	probably damaging	Het
Hoxc5	A	G	15: 102,922,698 (GRCm39)		probably null	Het
Kmt2d	TATGCTGCTG	TATGCTGCTGATGCTGCTG	15: 98,747,467 (GRCm39)		probably benign	Het
Kmt2d	C	T	15: 98,748,420 (GRCm39)		probably benign	Het
Lrp2	G	T	2: 69,314,124 (GRCm39)	H2202Q	probably benign	Het
Maf	C	A	8: 116,433,539 (GRCm39)	V22F	unknown	Het
Mrgpra3	C	T	7: 47,239,444 (GRCm39)	V161M	probably benign	Het
Or7g33	G	T	9: 19,448,495 (GRCm39)	H244N	probably damaging	Het
Otx1	T	C	11: 21,946,412 (GRCm39)		probably benign	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pex11a	A	G	7: 79,387,230 (GRCm39)	F201L	probably benign	Het
Pigu	A	G	2: 155,143,206 (GRCm39)	Y232H	possibly damaging	Het
Pms2	T	C	5: 143,860,307 (GRCm39)	I40T	probably damaging	Het
Pura	A	G	18: 36,420,696 (GRCm39)	N161S	probably damaging	Het
Ranbp10	A	G	8: 106,501,260 (GRCm39)	V330A	possibly damaging	Het
Slc30a9	T	C	5: 67,490,443 (GRCm39)	V218A	probably damaging	Het
Spindoc	C	T	19: 7,335,781 (GRCm39)	V336I	probably damaging	Het
Tmprss9	A	G	10: 80,726,198 (GRCm39)	T483A	probably benign	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
IGL01395:Afg3l2	APN	18	67,575,880 (GRCm39)	missense	probably benign	0.21
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
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

Predicted Primers

PCR Primer
(F):5'- GGCACTGTCCAGCTTCAATG -3'
(R):5'- AGTTTACATCTTGATTGTAGCTCCC -3'

Sequencing Primer
(F):5'- TCCAGCTTCAATGGTCGAAG -3'
(R):5'- GATTGTAGCTCCCCTCTCCAG -3'

Posted On

2018-08-01