Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02992:Spg11'

406977

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spg11

Ensembl Gene

ENSMUSG00000033396

Gene Name

SPG11, spatacsin vesicle trafficking associated

Synonyms

C530005A01Rik, 6030465E24Rik

Accession Numbers

Genbank: NM_145531

Is this an essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

IGL02992

Quality Score

Status

Chromosome

Chromosomal Location

122053520-122118386 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122058398 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2164 (D2164G)

Ref Sequence

ENSEMBL: ENSMUSP00000037543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028668] [ENSMUST00000036450]

Predicted Effect

probably benign
Transcript: ENSMUST00000028668

SMART Domains

Protein: ENSMUSP00000028668
Gene: ENSMUSG00000027236

Domain	Start	End	E-Value	Type
Pfam:eIF3_subunit	14	261	7.5e-66	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000036450
AA Change: D2164G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: D2164G

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	254	276	N/A	INTRINSIC
low complexity region	945	958	N/A	INTRINSIC
low complexity region	1250	1264	N/A	INTRINSIC
low complexity region	1305	1313	N/A	INTRINSIC
low complexity region	1673	1684	N/A	INTRINSIC
low complexity region	1772	1784	N/A	INTRINSIC
Pfam:Spatacsin_C	2082	2374	1.1e-105	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a knock-out allele develop a progressive spastic and ataxic gait disorder and show loss of cortical motoneurons and Purkinje cells, a reduced number of lysosomes available for fusion with autophagosomes in degenerating neurons, and accumulation of autolysosome-derived material. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,719,464	L684M	possibly damaging	Het
Abca4	A	G	3: 122,128,286	K1164E	probably damaging	Het
Arhgap42	G	A	9: 8,998,248		probably benign	Het
Arhgef12	T	C	9: 42,999,077	D612G	probably damaging	Het
Cpne3	T	C	4: 19,532,486	D309G	probably benign	Het
Daw1	T	C	1: 83,197,213		probably benign	Het
Daxx	T	A	17: 33,911,748	C246S	probably damaging	Het
Dpp7	T	C	2: 25,354,577	D264G	possibly damaging	Het
Dync2h1	T	A	9: 7,137,074	H1472L	probably benign	Het
Fastkd2	T	C	1: 63,737,924		probably benign	Het
Fcrls	T	G	3: 87,259,466	R73S	probably damaging	Het
Gatb	A	G	3: 85,618,916	D367G	probably damaging	Het
Gm20547	T	A	17: 34,857,119	E654V	probably damaging	Het
Gm839	T	A	6: 89,212,527		noncoding transcript	Het
Gtf2ird2	A	T	5: 134,217,614	M905L	possibly damaging	Het
Hoxb2	A	T	11: 96,353,084	I174F	probably damaging	Het
Hrh3	A	G	2: 180,100,815	V308A	probably benign	Het
Ints9	A	G	14: 64,980,164	K47E	probably benign	Het
Irak3	A	T	10: 120,182,661	Y61N	probably damaging	Het
Itpr1	A	G	6: 108,381,315	E614G	probably damaging	Het
Lgals3	A	T	14: 47,385,525	I214L	probably benign	Het
Msh4	G	T	3: 153,872,325	T444K	possibly damaging	Het
Myh7b	C	A	2: 155,621,410	Q521K	probably damaging	Het
Naip5	T	A	13: 100,223,028	I567F	probably damaging	Het
Nf1	A	G	11: 79,434,933		probably benign	Het
Nlrc3	C	T	16: 3,954,023		probably benign	Het
Nlrc5	A	C	8: 94,506,573	E1353A	possibly damaging	Het
Nr1h3	T	A	2: 91,190,566	I260F	probably damaging	Het
Pcnx	G	A	12: 81,964,120	R1211Q	probably damaging	Het
Pde10a	A	G	17: 8,949,461	K605E	probably damaging	Het
Pdzd2	T	C	15: 12,382,622	E1215G	possibly damaging	Het
Pex12	A	G	11: 83,297,927	S81P	probably damaging	Het
Pik3c2b	C	A	1: 133,066,980	Y227*	probably null	Het
Ppef2	C	T	5: 92,235,900	W450*	probably null	Het
Prkg2	T	G	5: 99,024,506	S117R	probably benign	Het
Prl3d2	A	T	13: 27,127,283	E179D	probably benign	Het
Rxfp2	T	C	5: 150,051,556	V210A	probably benign	Het
Scn10a	T	C	9: 119,609,560	T1748A	possibly damaging	Het
Sept10	T	C	10: 59,192,178	N107S	possibly damaging	Het
Smu1	T	A	4: 40,739,550	N420I	probably damaging	Het
Sos1	A	G	17: 80,419,016	F835L	probably benign	Het
Svbp	A	G	4: 119,195,930	E8G	probably damaging	Het
Tgm3	T	A	2: 130,041,979	M519K	probably damaging	Het
Tspan12	A	G	6: 21,799,877		probably null	Het
Vps52	T	C	17: 33,958,350	V122A	probably damaging	Het
Wipf1	T	C	2: 73,434,083	Y458C	probably damaging	Het
Zfp369	T	A	13: 65,294,451	D286E	possibly damaging	Het

Other mutations in Spg11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Spg11	APN	2	122065560	missense	probably damaging	0.96
IGL00495:Spg11	APN	2	122094456	critical splice donor site	probably null
IGL00757:Spg11	APN	2	122070959	missense	probably benign	0.05
IGL01304:Spg11	APN	2	122072290	missense	probably damaging	1.00
IGL01355:Spg11	APN	2	122113156	missense	probably benign
IGL01626:Spg11	APN	2	122060971	missense	probably damaging	0.98
IGL01739:Spg11	APN	2	122114671	missense	probably damaging	1.00
IGL01835:Spg11	APN	2	122088224	missense	probably benign	0.36
IGL02129:Spg11	APN	2	122095686	missense	probably damaging	0.99
IGL02178:Spg11	APN	2	122097302	missense	probably damaging	1.00
IGL02199:Spg11	APN	2	122059553	missense	probably damaging	1.00
IGL02212:Spg11	APN	2	122108157	missense	probably benign	0.31
IGL02605:Spg11	APN	2	122092260	missense	probably benign	0.00
IGL02635:Spg11	APN	2	122113068	missense	possibly damaging	0.52
IGL02743:Spg11	APN	2	122059507	missense	probably damaging	0.97
IGL02822:Spg11	APN	2	122074534	missense	probably damaging	0.99
IGL03010:Spg11	APN	2	122088320	missense	probably damaging	0.96
3-1:Spg11	UTSW	2	122086890	missense	probably damaging	0.98
PIT4354001:Spg11	UTSW	2	122088185	missense	probably damaging	0.98
R0131:Spg11	UTSW	2	122070968	missense	probably damaging	1.00
R0206:Spg11	UTSW	2	122055696	critical splice donor site	probably null
R0208:Spg11	UTSW	2	122055696	critical splice donor site	probably null
R0302:Spg11	UTSW	2	122092187	missense	possibly damaging	0.90
R0347:Spg11	UTSW	2	122097369	missense	probably damaging	0.99
R0357:Spg11	UTSW	2	122066232	splice site	probably benign
R0372:Spg11	UTSW	2	122059447	frame shift	probably null
R0715:Spg11	UTSW	2	122084983	missense	probably benign	0.03
R0927:Spg11	UTSW	2	122094487	missense	probably damaging	0.99
R1163:Spg11	UTSW	2	122070941	missense	probably damaging	1.00
R1534:Spg11	UTSW	2	122092325	missense	probably damaging	1.00
R1555:Spg11	UTSW	2	122097377	missense	probably damaging	0.99
R1569:Spg11	UTSW	2	122101706	missense	probably damaging	0.99
R1840:Spg11	UTSW	2	122101756	missense	probably damaging	1.00
R1929:Spg11	UTSW	2	122060207	missense	probably damaging	1.00
R2265:Spg11	UTSW	2	122108307	missense	possibly damaging	0.48
R2303:Spg11	UTSW	2	122068837	missense	probably damaging	0.99
R2510:Spg11	UTSW	2	122075310	missense	probably benign	0.03
R2760:Spg11	UTSW	2	122097359	missense	probably damaging	0.99
R2918:Spg11	UTSW	2	122075301	missense	probably damaging	0.99
R3195:Spg11	UTSW	2	122083398	critical splice donor site	probably null
R3423:Spg11	UTSW	2	122071053	missense	probably benign	0.00
R4353:Spg11	UTSW	2	122113194	missense	possibly damaging	0.92
R4407:Spg11	UTSW	2	122075332	missense	probably benign	0.00
R4644:Spg11	UTSW	2	122061029	missense	probably benign	0.03
R4663:Spg11	UTSW	2	122098099	critical splice donor site	probably null
R4684:Spg11	UTSW	2	122065076	missense	probably damaging	1.00
R4771:Spg11	UTSW	2	122065482	nonsense	probably null
R4810:Spg11	UTSW	2	122059796	missense	probably damaging	1.00
R4829:Spg11	UTSW	2	122108455	missense	probably benign	0.44
R5089:Spg11	UTSW	2	122114717	nonsense	probably null
R5362:Spg11	UTSW	2	122061000	missense	probably damaging	0.99
R5684:Spg11	UTSW	2	122093503	missense	probably damaging	1.00
R5899:Spg11	UTSW	2	122098199	missense	possibly damaging	0.67
R5923:Spg11	UTSW	2	122093478	missense	probably damaging	0.98
R6052:Spg11	UTSW	2	122097356	missense	probably damaging	0.99
R6111:Spg11	UTSW	2	122093482	missense	probably damaging	0.98
R6174:Spg11	UTSW	2	122086805	splice site	probably null
R6226:Spg11	UTSW	2	122088262	missense	possibly damaging	0.69
R6336:Spg11	UTSW	2	122112959	splice site	probably null
R6480:Spg11	UTSW	2	122092305	missense	probably benign	0.03
R6494:Spg11	UTSW	2	122113225	missense	probably damaging	0.98
R6582:Spg11	UTSW	2	122092292	missense	probably damaging	0.99
R6714:Spg11	UTSW	2	122095731	missense	probably damaging	0.99
R6791:Spg11	UTSW	2	122093443	missense	probably damaging	0.99
R6836:Spg11	UTSW	2	122059535	missense	probably damaging	1.00
R6928:Spg11	UTSW	2	122069904	missense	probably benign	0.37
R7179:Spg11	UTSW	2	122101789	splice site	probably null
R7229:Spg11	UTSW	2	122108104	missense	probably damaging	0.98
R7337:Spg11	UTSW	2	122084993	missense	probably benign	0.09
R7338:Spg11	UTSW	2	122055377	missense	probably damaging	1.00
R7351:Spg11	UTSW	2	122069931	missense	possibly damaging	0.95
R7378:Spg11	UTSW	2	122058429	missense	probably damaging	1.00
R7448:Spg11	UTSW	2	122093545	critical splice acceptor site	probably null
R7505:Spg11	UTSW	2	122075351	nonsense	probably null
R7665:Spg11	UTSW	2	122066267	missense	probably damaging	0.99
R7685:Spg11	UTSW	2	122068880	missense	probably damaging	0.99
R7779:Spg11	UTSW	2	122070939	missense	probably damaging	1.00
R7947:Spg11	UTSW	2	122092322	missense	probably damaging	1.00
R7958:Spg11	UTSW	2	122092945	splice site	probably null
R8024:Spg11	UTSW	2	122097321	missense	possibly damaging	0.67
R8033:Spg11	UTSW	2	122086951	missense	probably damaging	1.00
R8069:Spg11	UTSW	2	122113156	missense	probably benign
R8121:Spg11	UTSW	2	122069867	critical splice donor site	probably null
R8252:Spg11	UTSW	2	122088339	splice site	probably benign
R8358:Spg11	UTSW	2	122080258	missense	possibly damaging	0.69
R8362:Spg11	UTSW	2	122118361	missense	unknown
R8385:Spg11	UTSW	2	122097321	missense	probably benign	0.22
R8406:Spg11	UTSW	2	122093442	missense	probably damaging	0.99
Z1177:Spg11	UTSW	2	122072985	missense	probably damaging	0.98

Posted On

2016-08-02