Mutagenetix > Incidental Mutation

Incidental Mutation 'R5972:Afg3l2'

471500

Institutional Source

Beutler Lab

Gene Symbol

Afg3l2

Ensembl Gene

ENSMUSG00000024527

Gene Name

AFG3-like AAA ATPase 2

Synonyms

Emv66, 2310036I02Rik, par

MMRRC Submission

044155-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67537834-67582242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 67554329 bp (GRCm39)

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: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

100% (51/51)

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
Abcg2	T	A	6: 58,649,070 (GRCm39)	M305K	probably benign	Het
Accs	G	T	2: 93,669,572 (GRCm39)	H283N	probably damaging	Het
Actl6b	A	T	5: 137,564,818 (GRCm39)	H283L	possibly damaging	Het
Adgra1	T	C	7: 139,425,583 (GRCm39)	L32P	probably damaging	Het
Arfgef2	T	C	2: 166,733,756 (GRCm39)	I1672T	probably damaging	Het
Bambi	T	A	18: 3,512,354 (GRCm39)	V246E	probably damaging	Het
BC048679	A	G	7: 81,145,479 (GRCm39)	L29P	probably damaging	Het
Bmal2	A	G	6: 146,711,187 (GRCm39)	M64V	probably damaging	Het
Camk4	T	C	18: 33,240,979 (GRCm39)	L92P	probably damaging	Het
Ddx11	C	A	17: 66,455,085 (GRCm39)	Q655K	probably benign	Het
Ddx52	A	G	11: 83,844,051 (GRCm39)		probably null	Het
Entrep3	T	A	3: 89,093,115 (GRCm39)	V213D	probably damaging	Het
Eps8l3	T	C	3: 107,791,763 (GRCm39)		probably null	Het
Erap1	T	A	13: 74,810,423 (GRCm39)		probably null	Het
Flg	T	A	3: 93,186,849 (GRCm39)	N100K	probably benign	Het
Grip2	A	T	6: 91,784,262 (GRCm39)	V13E	probably benign	Het
Iars1	T	C	13: 49,863,108 (GRCm39)	V520A	possibly damaging	Het
Impa1	A	G	3: 10,394,064 (GRCm39)	M1T	probably null	Het
Ip6k3	T	C	17: 27,368,934 (GRCm39)	T179A	possibly damaging	Het
Krt87	T	A	15: 101,385,467 (GRCm39)	M302L	probably benign	Het
Lrp8	T	C	4: 107,726,267 (GRCm39)	Y899H	probably damaging	Het
Lrpprc	A	T	17: 85,020,250 (GRCm39)	I1145N	possibly damaging	Het
Mapk11	A	T	15: 89,028,387 (GRCm39)	D324E	probably benign	Het
Melk	C	T	4: 44,351,007 (GRCm39)	T516I	probably benign	Het
Mia2	C	T	12: 59,193,723 (GRCm39)	H130Y	probably damaging	Het
Mroh5	C	T	15: 73,662,568 (GRCm39)		probably null	Het
Ncam1	T	C	9: 49,418,829 (GRCm39)	T824A	possibly damaging	Het
Neurog1	T	C	13: 56,399,211 (GRCm39)	S179G	probably damaging	Het
Ntrk2	T	A	13: 58,985,633 (GRCm39)	L79Q	probably damaging	Het
Patj	T	A	4: 98,457,290 (GRCm39)	M46K	probably damaging	Het
Pdcd6ip	T	C	9: 113,491,366 (GRCm39)	K626E	probably benign	Het
Pdss2	T	A	10: 43,174,922 (GRCm39)	Y143N	probably damaging	Het
Pkhd1l1	G	A	15: 44,408,812 (GRCm39)	S2433N	probably damaging	Het
Plekha5	A	G	6: 140,518,639 (GRCm39)	T309A	possibly damaging	Het
Prdm4	C	T	10: 85,743,365 (GRCm39)	V297M	probably damaging	Het
Rab15	T	C	12: 76,847,377 (GRCm39)	Y148C	probably damaging	Het
Ryr3	A	T	2: 112,664,409 (GRCm39)	N1627K	probably damaging	Het
Scn1a	G	T	2: 66,181,454 (GRCm39)	A23E	possibly damaging	Het
Smtn	A	T	11: 3,483,486 (GRCm39)	I30N	probably damaging	Het
Sympk	A	G	7: 18,780,749 (GRCm39)	K751E	probably benign	Het
Usp24	C	T	4: 106,225,264 (GRCm39)	P632L	probably damaging	Het
Vmn2r106	A	G	17: 20,498,738 (GRCm39)	I391T	probably benign	Het
Vmn2r54	G	A	7: 12,349,279 (GRCm39)	P768S	probably damaging	Het
Vmn2r54	C	T	7: 12,369,874 (GRCm39)	C63Y	probably damaging	Het
Zfhx3	T	G	8: 109,677,483 (GRCm39)	C2844W	possibly 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
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
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

Predicted Primers

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

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

Posted On

2017-03-31