Mutagenetix > Incidental Mutation

Incidental Mutation 'R1672:Afg3l2'

187766

Institutional Source

Beutler Lab

Gene Symbol

Afg3l2

Ensembl Gene

ENSMUSG00000024527

Gene Name

AFG3-like AAA ATPase 2

Synonyms

2310036I02Rik, Emv66, par

MMRRC Submission

039708-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1672 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67404767-67449166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67407423 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 672 (I672T)

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: I672T

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: I672T

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	G	A	16: 88,627,208 (GRCm38)	Q132*	probably null	Het
4930430A15Rik	T	A	2: 111,220,774 (GRCm38)	M226L	probably benign	Het
Aadacl4	T	A	4: 144,623,319 (GRCm38)	L382*	probably null	Het
Aftph	A	T	11: 20,726,762 (GRCm38)	D282E	probably benign	Het
Agpat5	A	G	8: 18,870,914 (GRCm38)	N161S	probably benign	Het
Alpk2	C	T	18: 65,280,959 (GRCm38)	E1562K	probably damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754 (GRCm38)		probably null	Het
Apobr	A	G	7: 126,587,551 (GRCm38)	R745G	probably benign	Het
Arrdc5	T	C	17: 56,300,144 (GRCm38)	T34A	possibly damaging	Het
Astl	T	C	2: 127,347,243 (GRCm38)	L163P	probably damaging	Het
Atf7ip2	A	T	16: 10,209,141 (GRCm38)	H91L	probably damaging	Het
Atp13a3	A	T	16: 30,332,274 (GRCm38)	S1073T	possibly damaging	Het
Bcl2a1a	A	T	9: 88,957,450 (GRCm38)	I134L	probably damaging	Het
Brinp1	T	C	4: 68,829,283 (GRCm38)		probably null	Het
Capn9	A	G	8: 124,613,831 (GRCm38)	N578S	probably benign	Het
Casp2	T	A	6: 42,268,908 (GRCm38)	D166E	probably damaging	Het
Ccr1l1	A	T	9: 123,977,507 (GRCm38)	I301N	probably damaging	Het
Chtop	T	A	3: 90,507,567 (GRCm38)	T15S	probably damaging	Het
Coq5	T	A	5: 115,279,916 (GRCm38)		probably null	Het
Crbn	G	A	6: 106,795,925 (GRCm38)	P34L	probably damaging	Het
Crisp1	G	T	17: 40,308,869 (GRCm38)	D59E	possibly damaging	Het
Cyp4f14	A	T	17: 32,909,236 (GRCm38)	D268E	probably benign	Het
D5Ertd579e	T	C	5: 36,613,277 (GRCm38)	D1258G	possibly damaging	Het
Dcp1b	T	C	6: 119,217,911 (GRCm38)	S531P	probably benign	Het
Defb25	T	C	2: 152,622,490 (GRCm38)	M45V	probably benign	Het
Dffa	T	C	4: 149,106,245 (GRCm38)	L77P	probably damaging	Het
Dixdc1	T	C	9: 50,689,864 (GRCm38)	Q361R	probably damaging	Het
Dnah1	A	G	14: 31,276,200 (GRCm38)	L2560P	probably damaging	Het
Fabp5	A	G	3: 10,015,541 (GRCm38)	T108A	probably benign	Het
Fam149a	T	G	8: 45,339,374 (GRCm38)		probably null	Het
Fam20c	A	G	5: 138,807,301 (GRCm38)	Y430C	probably damaging	Het
Fat1	A	G	8: 45,036,835 (GRCm38)	T3595A	probably damaging	Het
Fbp1	A	G	13: 62,867,431 (GRCm38)	Y245H	probably damaging	Het
Frem1	C	T	4: 82,998,891 (GRCm38)	R605H	probably benign	Het
Fscb	A	G	12: 64,471,518 (GRCm38)	I1058T	unknown	Het
Fyb2	A	G	4: 104,950,862 (GRCm38)	K373R	probably benign	Het
Ggta1	A	T	2: 35,402,133 (GRCm38)	Y387*	probably null	Het
Gm18856	T	C	13: 13,965,757 (GRCm38)		probably benign	Het
Gm572	T	C	4: 148,668,509 (GRCm38)	S282P	possibly damaging	Het
Gpd2	A	T	2: 57,357,700 (GRCm38)	I552F	probably damaging	Het
Grk5	T	C	19: 61,086,215 (GRCm38)		probably null	Het
Hivep1	T	C	13: 42,160,284 (GRCm38)	V2000A	probably damaging	Het
Ipo5	C	T	14: 120,933,302 (GRCm38)	L466F	probably damaging	Het
Itgb1	G	A	8: 128,732,045 (GRCm38)	S785N	probably damaging	Het
Itpr3	G	A	17: 27,089,013 (GRCm38)	R258K	probably benign	Het
Kcnk12	A	G	17: 87,746,319 (GRCm38)	V305A	probably benign	Het
Klf5	C	T	14: 99,301,550 (GRCm38)	T133I	probably damaging	Het
Lrig2	A	G	3: 104,491,812 (GRCm38)	I178T	probably damaging	Het
Lyrm4	A	T	13: 36,092,924 (GRCm38)	M30K	probably benign	Het
Mpv17	A	G	5: 31,153,719 (GRCm38)	Y7H	probably damaging	Het
Mrps22	T	C	9: 98,596,816 (GRCm38)		probably null	Het
Myof	A	T	19: 37,943,479 (GRCm38)	W967R	probably damaging	Het
Naip1	C	T	13: 100,423,149 (GRCm38)	D1116N	probably benign	Het
Olfr150	G	A	9: 39,737,196 (GRCm38)	C127Y	probably damaging	Het
Olfr393	T	C	11: 73,847,955 (GRCm38)	T57A	probably benign	Het
Olfr792	C	A	10: 129,540,692 (GRCm38)	H52N	probably benign	Het
Olfr826	T	C	10: 130,180,392 (GRCm38)	T163A	probably benign	Het
Ovol2	T	C	2: 144,305,790 (GRCm38)	Y180C	probably damaging	Het
Pacs1	T	C	19: 5,152,309 (GRCm38)	S418G	probably benign	Het
Pcdh1	T	C	18: 38,192,180 (GRCm38)	E903G	probably damaging	Het
Pcdhb15	A	T	18: 37,474,660 (GRCm38)	Y315F	probably damaging	Het
Pex1	T	C	5: 3,626,085 (GRCm38)	L891P	probably damaging	Het
Ppfia2	G	A	10: 106,830,568 (GRCm38)	M378I	possibly damaging	Het
Ppp1r9a	T	A	6: 5,143,491 (GRCm38)		probably null	Het
Prm3	T	C	16: 10,790,699 (GRCm38)	E64G	possibly damaging	Het
Prmt6	T	C	3: 110,250,571 (GRCm38)	D134G	possibly damaging	Het
Prss42	G	A	9: 110,800,928 (GRCm38)	G250D	probably damaging	Het
Pwwp2b	G	A	7: 139,254,831 (GRCm38)	V63I	probably benign	Het
Rbm17	T	C	2: 11,585,719 (GRCm38)	D375G	possibly damaging	Het
Rhbdl1	A	T	17: 25,836,409 (GRCm38)		probably null	Het
Rims2	T	A	15: 39,292,189 (GRCm38)	D128E	probably benign	Het
Rock2	A	G	12: 16,965,652 (GRCm38)	K850R	probably benign	Het
Rreb1	T	C	13: 37,930,537 (GRCm38)	I624T	probably benign	Het
Rrp36	A	T	17: 46,672,414 (GRCm38)	D91E	probably damaging	Het
Scn7a	C	T	2: 66,697,600 (GRCm38)	D849N	possibly damaging	Het
Sec24a	A	T	11: 51,743,948 (GRCm38)	Y50*	probably null	Het
Sh2d4b	A	G	14: 40,892,964 (GRCm38)	M1T	probably null	Het
Slc4a7	A	G	14: 14,760,247 (GRCm38)	I561V	possibly damaging	Het
Slc7a12	T	C	3: 14,499,277 (GRCm38)	V70A	possibly damaging	Het
Slfnl1	A	T	4: 120,535,775 (GRCm38)	I355F	probably damaging	Het
Spata2	C	T	2: 167,483,519 (GRCm38)	R460H	probably damaging	Het
Stk11ip	C	T	1: 75,528,985 (GRCm38)	Q433*	probably null	Het
Susd1	T	C	4: 59,411,395 (GRCm38)	Y146C	probably damaging	Het
Susd5	A	T	9: 114,068,822 (GRCm38)	D115V	probably damaging	Het
Tas2r110	T	A	6: 132,868,066 (GRCm38)	V20E	probably damaging	Het
Tbc1d4	T	C	14: 101,475,215 (GRCm38)	Y694C	possibly damaging	Het
Tmem131	T	C	1: 36,824,759 (GRCm38)	E640G	probably damaging	Het
Togaram1	A	G	12: 65,021,568 (GRCm38)	T1782A	probably benign	Het
Trim24	T	C	6: 37,915,279 (GRCm38)	L249P	probably damaging	Het
Ttf1	T	C	2: 29,067,152 (GRCm38)	I478T	probably damaging	Het
Upf2	T	A	2: 6,040,097 (GRCm38)		probably null	Het
Urb1	A	T	16: 90,787,397 (GRCm38)	C566S	probably damaging	Het
Vmn1r191	T	C	13: 22,179,092 (GRCm38)	N164S	probably benign	Het
Vmn2r81	T	A	10: 79,268,278 (GRCm38)	V245E	probably damaging	Het
Vwce	T	A	19: 10,653,095 (GRCm38)	F506Y	possibly damaging	Het
Wnt8b	T	C	19: 44,511,276 (GRCm38)	F155L	probably damaging	Het
Xrra1	A	T	7: 99,898,440 (GRCm38)	I279F	probably benign	Het
Zfp229	T	C	17: 21,745,847 (GRCm38)	S353P	probably damaging	Het
Zfp607b	C	T	7: 27,692,523 (GRCm38)	H8Y	possibly damaging	Het
Zfp933	A	T	4: 147,826,019 (GRCm38)	H373Q	probably damaging	Het
Zfp938	A	G	10: 82,225,148 (GRCm38)	L546P	probably benign	Het
Zfp988	C	T	4: 147,331,282 (GRCm38)	R58C	probably benign	Het
Zkscan14	C	T	5: 145,201,654 (GRCm38)	V8I	probably benign	Het

Other mutations in Afg3l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Afg3l2	APN	18	67,431,653 (GRCm38)	critical splice donor site	probably null
IGL01395:Afg3l2	APN	18	67,442,810 (GRCm38)	missense	probably benign	0.21
IGL01533:Afg3l2	APN	18	67,405,418 (GRCm38)	nonsense	probably null
IGL01814:Afg3l2	APN	18	67,405,474 (GRCm38)	missense	probably benign	0.23
IGL01868:Afg3l2	APN	18	67,414,148 (GRCm38)	missense	possibly damaging	0.83
IGL02399:Afg3l2	APN	18	67,429,040 (GRCm38)	missense	possibly damaging	0.82
IGL02827:Afg3l2	APN	18	67,425,945 (GRCm38)	missense	probably damaging	1.00
IGL03342:Afg3l2	APN	18	67,407,320 (GRCm38)	missense	probably benign
IGL03392:Afg3l2	APN	18	67,414,069 (GRCm38)	splice site	probably benign
radicle	UTSW	18	67,422,953 (GRCm38)	missense	probably damaging	1.00
rootlet	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R0057:Afg3l2	UTSW	18	67,423,086 (GRCm38)	missense	probably damaging	1.00
R0107:Afg3l2	UTSW	18	67,431,766 (GRCm38)	missense	probably damaging	1.00
R0650:Afg3l2	UTSW	18	67,415,557 (GRCm38)	missense	possibly damaging	0.77
R0831:Afg3l2	UTSW	18	67,421,227 (GRCm38)	missense	probably damaging	1.00
R0899:Afg3l2	UTSW	18	67,422,977 (GRCm38)	missense	possibly damaging	0.65
R0962:Afg3l2	UTSW	18	67,405,427 (GRCm38)	missense	possibly damaging	0.77
R1815:Afg3l2	UTSW	18	67,415,573 (GRCm38)	nonsense	probably null
R1838:Afg3l2	UTSW	18	67,414,172 (GRCm38)	missense	probably damaging	0.99
R2013:Afg3l2	UTSW	18	67,431,772 (GRCm38)	missense	probably damaging	0.99
R2383:Afg3l2	UTSW	18	67,422,956 (GRCm38)	missense	possibly damaging	0.91
R2906:Afg3l2	UTSW	18	67,440,222 (GRCm38)	missense	probably damaging	1.00
R4763:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R4765:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R4775:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5193:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5196:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5197:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5257:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5361:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5362:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5363:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5397:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5588:Afg3l2	UTSW	18	67,440,207 (GRCm38)	missense	possibly damaging	0.88
R5605:Afg3l2	UTSW	18	67,442,355 (GRCm38)	nonsense	probably null
R5696:Afg3l2	UTSW	18	67,407,459 (GRCm38)	missense	probably damaging	1.00
R5722:Afg3l2	UTSW	18	67,440,199 (GRCm38)	missense	probably benign	0.44
R5779:Afg3l2	UTSW	18	67,440,443 (GRCm38)	missense	probably null	0.12
R5972:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5973:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5974:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5979:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R5994:Afg3l2	UTSW	18	67,429,070 (GRCm38)	missense	probably damaging	1.00
R6026:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6027:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6028:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6029:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6033:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6033:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6035:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6035:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6075:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6077:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6081:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6131:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6132:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6134:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6152:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6154:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6169:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6178:Afg3l2	UTSW	18	67,409,528 (GRCm38)	missense	possibly damaging	0.91
R6187:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6216:Afg3l2	UTSW	18	67,421,259 (GRCm38)	missense	probably damaging	1.00
R6718:Afg3l2	UTSW	18	67,421,276 (GRCm38)	missense	probably damaging	1.00
R7388:Afg3l2	UTSW	18	67,422,953 (GRCm38)	missense	probably damaging	1.00
R8479:Afg3l2	UTSW	18	67,448,916 (GRCm38)	missense	probably benign	0.05
R8531:Afg3l2	UTSW	18	67,407,369 (GRCm38)	missense	probably damaging	0.99
R9017:Afg3l2	UTSW	18	67,409,480 (GRCm38)	missense	possibly damaging	0.81
R9220:Afg3l2	UTSW	18	67,429,196 (GRCm38)	missense	probably benign
R9222:Afg3l2	UTSW	18	67,434,187 (GRCm38)	missense	probably benign	0.05
R9371:Afg3l2	UTSW	18	67,434,192 (GRCm38)	missense	possibly damaging	0.84
R9381:Afg3l2	UTSW	18	67,442,381 (GRCm38)	missense	probably damaging	1.00
R9562:Afg3l2	UTSW	18	67,421,295 (GRCm38)	missense	probably damaging	1.00
Z1176:Afg3l2	UTSW	18	67,431,707 (GRCm38)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TATGCAGGCACGTACCTTCTCCAC -3'
(R):5'- GCAGTTTGCTCACATCAAGAGCTTC -3'

Sequencing Primer
(F):5'- ACGTACCTTCTCCACGTCAG -3'
(R):5'- CCTCACAGGTAGAGAAGTCTTCG -3'

Posted On

2014-05-09