Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02212:Spg11'

285547

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: 0.237) question?

Stock #

IGL02212

Quality Score

Status

Chromosome

Chromosomal Location

122053520-122118386 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122108157 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 439 (T439A)

Ref Sequence

ENSEMBL: ENSMUSP00000037543 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036450
AA Change: T439A

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: T439A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135847

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,248,889	D1079V	probably damaging	Het
Adam18	T	C	8: 24,637,179	H467R	probably benign	Het
Ambra1	T	G	2: 91,917,361	D1056E	probably damaging	Het
Aoah	A	C	13: 21,002,901	N456T	probably benign	Het
Batf2	T	A	19: 6,171,961	F267Y	probably damaging	Het
Bbs7	C	T	3: 36,594,409	V397I	probably benign	Het
Bbs9	T	A	9: 22,812,512	D824E	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Brip1	A	T	11: 86,139,015	V601E	possibly damaging	Het
Bub1	A	G	2: 127,805,351	F773L	probably damaging	Het
Cadps	A	T	14: 12,522,345	D606E	possibly damaging	Het
Cenps	T	G	4: 149,128,846	D54A	probably damaging	Het
Cep170	T	A	1: 176,735,936	N1504I	probably damaging	Het
Cttnbp2	A	G	6: 18,382,749	V1340A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,210,171	S667T	probably benign	Het
Dgkb	A	G	12: 38,139,414	Y272C	probably damaging	Het
Dlx3	A	G	11: 95,120,641	D107G	probably benign	Het
Drd3	A	T	16: 43,762,312	N56I	probably benign	Het
Elavl4	T	A	4: 110,206,412	I331F	probably damaging	Het
Fam167a	T	G	14: 63,462,629	S213A	probably damaging	Het
Fasn	A	T	11: 120,807,903	I2489N	probably damaging	Het
Fbxo43	T	C	15: 36,151,811	K587E	probably damaging	Het
Fscn2	A	G	11: 120,362,055	D116G	probably damaging	Het
Galm	T	C	17: 80,150,117	V194A	probably benign	Het
Gm14851	C	T	8: 21,095,260		probably benign	Het
Gpr180	T	A	14: 118,160,176	F361I	probably damaging	Het
Gpx2	A	T	12: 76,792,908	C105*	probably null	Het
Gsdmc2	A	T	15: 63,828,062		probably benign	Het
Hes2	T	G	4: 152,160,525	S150R	probably damaging	Het
Ighv1-56	C	T	12: 115,242,797		probably benign	Het
Inhbb	A	T	1: 119,417,983	V192D	probably benign	Het
Itgal	A	T	7: 127,300,980	M137L	probably benign	Het
Jak2	A	G	19: 29,287,982	N470D	probably benign	Het
Jph1	T	C	1: 17,091,757	E227G	probably damaging	Het
Kcnj6	A	T	16: 94,832,487	I237N	probably damaging	Het
Kctd8	G	T	5: 69,340,688	P205Q	probably benign	Het
Klhdc1	A	T	12: 69,250,766	N37I	probably damaging	Het
Lrp2	T	A	2: 69,451,264	H3921L	probably benign	Het
Lrp8os2	T	C	4: 107,807,048		probably benign	Het
Man2a2	A	C	7: 80,362,308	D700E	probably benign	Het
Mast1	A	T	8: 84,921,397	L485Q	probably damaging	Het
Mmp3	A	G	9: 7,450,165	D299G	probably damaging	Het
Mptx2	T	A	1: 173,274,681	D147V	possibly damaging	Het
Mrpl9	T	A	3: 94,443,817		probably null	Het
Mup21	T	G	4: 62,148,592	E137A	probably damaging	Het
Mutyh	T	A	4: 116,815,606	V52D	probably damaging	Het
Nalcn	T	A	14: 123,515,330	S340C	probably damaging	Het
Neb	A	G	2: 52,308,311	Y474H	probably damaging	Het
Nol8	A	G	13: 49,662,150	E560G	possibly damaging	Het
Ntn4	A	G	10: 93,644,849	D145G	possibly damaging	Het
Nup93	G	A	8: 94,311,662		probably null	Het
Olfr133	C	A	17: 38,148,855	T89K	probably benign	Het
Olfr1384	A	T	11: 49,513,910	I91F	probably damaging	Het
Olfr346	A	G	2: 36,688,182	Y60C	probably damaging	Het
Olfr691	C	T	7: 105,337,143	C191Y	probably damaging	Het
Pcdhb8	T	A	18: 37,356,412	V40E	possibly damaging	Het
Peg3	C	T	7: 6,711,416	R269H	probably benign	Het
Piwil1	T	A	5: 128,750,270	F648I	possibly damaging	Het
Psd4	A	T	2: 24,405,314	K827*	probably null	Het
Retsat	T	A	6: 72,601,710	L135*	probably null	Het
Rtp3	A	G	9: 110,987,321		probably benign	Het
Samd14	A	G	11: 95,023,350	Y305C	probably damaging	Het
Satb1	T	A	17: 51,775,291	Q445L	possibly damaging	Het
Shbg	A	G	11: 69,617,209	L110P	probably damaging	Het
Slc17a6	T	A	7: 51,667,470	I413N	possibly damaging	Het
Slu7	A	T	11: 43,440,642	Q201L	probably benign	Het
Sstr5	A	T	17: 25,491,673	L194Q	possibly damaging	Het
Tjp2	A	T	19: 24,138,786	L13Q	probably damaging	Het
Tnk2	G	A	16: 32,680,142	V758I	probably damaging	Het
Ttll8	C	A	15: 88,917,247	V413L	probably benign	Het
Wiz	T	C	17: 32,368,135	D67G	probably 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
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
IGL02992:Spg11	APN	2	122058398	missense	probably damaging	1.00
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

2015-04-16