Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03342:Afg3l2'

417283

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 #

IGL03342

Quality Score

Status

Chromosome

Chromosomal Location

67404767-67449166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67407320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 706 (D706E)

Ref Sequence

ENSEMBL: ENSMUSP00000025408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001513] [ENSMUST00000025408]

AlphaFold

Q8JZQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000001513

SMART Domains

Protein: ENSMUSP00000001513
Gene: ENSMUSG00000001473

Domain	Start	End	E-Value	Type
Tubulin	47	244	6.2e-66	SMART
Tubulin_C	246	383	3.57e-48	SMART
low complexity region	432	447	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025408
AA Change: D706E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: D706E

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,287,691	T1152M	possibly damaging	Het
Abcg2	G	T	6: 58,665,135	R136I	probably damaging	Het
Acap2	A	G	16: 31,105,492	V641A	probably damaging	Het
Bbs1	A	T	19: 4,897,593	L311Q	probably damaging	Het
Cacna1e	A	G	1: 154,466,944		probably null	Het
Car2	A	T	3: 14,895,569	D129V	probably benign	Het
Catsper2	T	C	2: 121,406,736	I228V	probably damaging	Het
Cdhr3	C	A	12: 33,051,055	R452M	probably benign	Het
Chrm1	A	T	19: 8,679,308	Q459L	probably benign	Het
Cnbd1	C	T	4: 19,098,264		probably benign	Het
Coa7	A	G	4: 108,332,229	D42G	probably damaging	Het
Ctsz	T	C	2: 174,429,140	Y187C	possibly damaging	Het
Cxcr6	C	T	9: 123,810,407	Q165*	probably null	Het
Cyp3a11	G	A	5: 145,855,117	P489S	probably damaging	Het
Cyp4f15	A	T	17: 32,697,936	I276F	probably damaging	Het
Dsg1b	T	A	18: 20,409,460	M1008K	probably benign	Het
Dsg4	T	A	18: 20,451,823	I198N	probably damaging	Het
Dtymk	C	A	1: 93,794,819	E87D	probably benign	Het
Dysf	T	A	6: 84,190,872	D1749E	probably benign	Het
Dzip3	G	T	16: 48,929,623	Q1050K	probably damaging	Het
Echs1	C	T	7: 140,110,113		probably benign	Het
Enc1	T	A	13: 97,246,470	I496N	possibly damaging	Het
Epc2	A	T	2: 49,536,646	Y139F	probably benign	Het
Exo1	A	T	1: 175,892,127	N246I	probably benign	Het
Flg2	A	G	3: 93,201,235	K190R	probably damaging	Het
Gm5424	A	T	10: 62,072,192		noncoding transcript	Het
Gpbp1l1	A	C	4: 116,574,543	T133P	probably benign	Het
Gpr155	A	G	2: 73,349,678	F146S	probably damaging	Het
Grm1	T	A	10: 11,079,971	I190L	probably benign	Het
Hif3a	C	T	7: 17,041,122	R515H	possibly damaging	Het
Kdm5b	G	A	1: 134,602,576	D442N	probably benign	Het
Manba	A	T	3: 135,517,987	I212F	possibly damaging	Het
Map3k13	A	G	16: 21,892,231	E88G	possibly damaging	Het
Mapk7	A	G	11: 61,491,390	L163P	probably damaging	Het
Med1	A	T	11: 98,189,180		probably null	Het
Mtrf1	C	T	14: 79,415,871		probably benign	Het
Mtrf1	T	A	14: 79,415,872		probably null	Het
Mtrf1	A	G	14: 79,415,980	D365G	possibly damaging	Het
Myadm	C	T	7: 3,296,887	T55I	possibly damaging	Het
Nlgn1	A	T	3: 26,133,262	I158N	probably damaging	Het
Nlrc4	A	G	17: 74,445,318	L690P	probably damaging	Het
Nlrp1a	A	T	11: 71,122,791	D544E	probably benign	Het
Nlrp2	A	T	7: 5,317,483	L20Q	probably damaging	Het
Olfr1053	A	T	2: 86,315,235	I17N	possibly damaging	Het
Olfr1504	A	G	19: 13,887,437	Y258H	probably damaging	Het
Olfr390	T	A	11: 73,787,483	S182T	probably benign	Het
Padi3	G	A	4: 140,810,598	Q4*	probably null	Het
Pfkl	A	T	10: 78,005,475	I13K	possibly damaging	Het
Pinx1	A	G	14: 63,919,569	D315G	probably benign	Het
Prickle3	A	G	X: 7,663,496	D47G	probably benign	Het
Psmd10	A	T	X: 140,956,654	V5E	probably damaging	Het
Rasgrf2	C	A	13: 91,987,979	V605F	probably damaging	Het
Smarca1	G	T	X: 47,892,269	A84D	probably damaging	Het
Sp2	A	G	11: 96,961,762	V112A	probably damaging	Het
Srgap3	G	A	6: 112,775,687	R279C	probably damaging	Het
Ssfa2	G	A	2: 79,660,452	M971I	probably damaging	Het
Trav21-dv12	T	C	14: 53,876,044	L10P	unknown	Het
Vmn1r236	A	T	17: 21,286,974	H118L	probably benign	Het
Vmn2r120	A	G	17: 57,509,372	M661T	probably benign	Het
Vmn2r17	A	T	5: 109,427,916	I218F	probably damaging	Het
Vmn2r41	G	T	7: 8,138,683	A594D	probably damaging	Het
Zc2hc1a	A	G	3: 7,524,223	E103G	possibly damaging	Het
Zfp62	G	T	11: 49,215,471	G130*	probably null	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
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
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