Mutagenetix > Incidental Mutation

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

6030465E24Rik, C530005A01Rik, spastic paraplegia 11

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

IGL02992

Quality Score

Status

Chromosome

Chromosomal Location

121884001-121948867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121888879 bp (GRCm39)

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]

AlphaFold

Q3UHA3

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
Abca4	A	G	3: 121,921,935 (GRCm39)	K1164E	probably damaging	Het
Arhgap42	G	A	9: 8,998,249 (GRCm39)		probably benign	Het
Arhgef12	T	C	9: 42,910,373 (GRCm39)	D612G	probably damaging	Het
Cpne3	T	C	4: 19,532,486 (GRCm39)	D309G	probably benign	Het
Daw1	T	C	1: 83,174,934 (GRCm39)		probably benign	Het
Daxx	T	A	17: 34,130,722 (GRCm39)	C246S	probably damaging	Het
Dpp7	T	C	2: 25,244,589 (GRCm39)	D264G	possibly damaging	Het
Dync2h1	T	A	9: 7,137,074 (GRCm39)	H1472L	probably benign	Het
Fastkd2	T	C	1: 63,777,083 (GRCm39)		probably benign	Het
Fcrl2	T	G	3: 87,166,773 (GRCm39)	R73S	probably damaging	Het
Gatb	A	G	3: 85,526,223 (GRCm39)	D367G	probably damaging	Het
Gm20547	T	A	17: 35,076,095 (GRCm39)	E654V	probably damaging	Het
Gm839	T	A	6: 89,189,509 (GRCm39)		noncoding transcript	Het
Gtf2ird2	A	T	5: 134,246,456 (GRCm39)	M905L	possibly damaging	Het
Hoxb2	A	T	11: 96,243,910 (GRCm39)	I174F	probably damaging	Het
Hrh3	A	G	2: 179,742,608 (GRCm39)	V308A	probably benign	Het
Ints9	A	G	14: 65,217,613 (GRCm39)	K47E	probably benign	Het
Irak3	A	T	10: 120,018,566 (GRCm39)	Y61N	probably damaging	Het
Itpr1	A	G	6: 108,358,276 (GRCm39)	E614G	probably damaging	Het
Lgals3	A	T	14: 47,622,982 (GRCm39)	I214L	probably benign	Het
Msh4	G	T	3: 153,577,962 (GRCm39)	T444K	possibly damaging	Het
Myh7b	C	A	2: 155,463,330 (GRCm39)	Q521K	probably damaging	Het
Naip5	T	A	13: 100,359,536 (GRCm39)	I567F	probably damaging	Het
Nf1	A	G	11: 79,325,759 (GRCm39)		probably benign	Het
Nlrc3	C	T	16: 3,771,887 (GRCm39)		probably benign	Het
Nlrc5	A	C	8: 95,233,201 (GRCm39)	E1353A	possibly damaging	Het
Nr1h3	T	A	2: 91,020,911 (GRCm39)	I260F	probably damaging	Het
Pcnx1	G	A	12: 82,010,894 (GRCm39)	R1211Q	probably damaging	Het
Pde10a	A	G	17: 9,168,293 (GRCm39)	K605E	probably damaging	Het
Pdzd2	T	C	15: 12,382,708 (GRCm39)	E1215G	possibly damaging	Het
Pex12	A	G	11: 83,188,753 (GRCm39)	S81P	probably damaging	Het
Pik3c2b	C	A	1: 132,994,718 (GRCm39)	Y227*	probably null	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Prkg2	T	G	5: 99,172,365 (GRCm39)	S117R	probably benign	Het
Prl3d2	A	T	13: 27,311,266 (GRCm39)	E179D	probably benign	Het
Relch	T	A	1: 105,647,189 (GRCm39)	L684M	possibly damaging	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Scn10a	T	C	9: 119,438,626 (GRCm39)	T1748A	possibly damaging	Het
Septin10	T	C	10: 59,028,000 (GRCm39)	N107S	possibly damaging	Het
Smu1	T	A	4: 40,739,550 (GRCm39)	N420I	probably damaging	Het
Sos1	A	G	17: 80,726,445 (GRCm39)	F835L	probably benign	Het
Svbp	A	G	4: 119,053,127 (GRCm39)	E8G	probably damaging	Het
Tgm3	T	A	2: 129,883,899 (GRCm39)	M519K	probably damaging	Het
Tspan12	A	G	6: 21,799,876 (GRCm39)		probably null	Het
Vps52	T	C	17: 34,177,324 (GRCm39)	V122A	probably damaging	Het
Wipf1	T	C	2: 73,264,427 (GRCm39)	Y458C	probably damaging	Het
Zfp369	T	A	13: 65,442,265 (GRCm39)	D286E	possibly damaging	Het

Other mutations in Spg11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Spg11	APN	2	121,896,041 (GRCm39)	missense	probably damaging	0.96
IGL00495:Spg11	APN	2	121,924,937 (GRCm39)	critical splice donor site	probably null
IGL00757:Spg11	APN	2	121,901,440 (GRCm39)	missense	probably benign	0.05
IGL01304:Spg11	APN	2	121,902,771 (GRCm39)	missense	probably damaging	1.00
IGL01355:Spg11	APN	2	121,943,637 (GRCm39)	missense	probably benign
IGL01626:Spg11	APN	2	121,891,452 (GRCm39)	missense	probably damaging	0.98
IGL01739:Spg11	APN	2	121,945,152 (GRCm39)	missense	probably damaging	1.00
IGL01835:Spg11	APN	2	121,918,705 (GRCm39)	missense	probably benign	0.36
IGL02129:Spg11	APN	2	121,926,167 (GRCm39)	missense	probably damaging	0.99
IGL02178:Spg11	APN	2	121,927,783 (GRCm39)	missense	probably damaging	1.00
IGL02199:Spg11	APN	2	121,890,034 (GRCm39)	missense	probably damaging	1.00
IGL02212:Spg11	APN	2	121,938,638 (GRCm39)	missense	probably benign	0.31
IGL02605:Spg11	APN	2	121,922,741 (GRCm39)	missense	probably benign	0.00
IGL02635:Spg11	APN	2	121,943,549 (GRCm39)	missense	possibly damaging	0.52
IGL02743:Spg11	APN	2	121,889,988 (GRCm39)	missense	probably damaging	0.97
IGL02822:Spg11	APN	2	121,905,015 (GRCm39)	missense	probably damaging	0.99
IGL03010:Spg11	APN	2	121,918,801 (GRCm39)	missense	probably damaging	0.96
3-1:Spg11	UTSW	2	121,917,371 (GRCm39)	missense	probably damaging	0.98
PIT4354001:Spg11	UTSW	2	121,918,666 (GRCm39)	missense	probably damaging	0.98
R0131:Spg11	UTSW	2	121,901,449 (GRCm39)	missense	probably damaging	1.00
R0206:Spg11	UTSW	2	121,886,177 (GRCm39)	critical splice donor site	probably null
R0208:Spg11	UTSW	2	121,886,177 (GRCm39)	critical splice donor site	probably null
R0302:Spg11	UTSW	2	121,922,668 (GRCm39)	missense	possibly damaging	0.90
R0347:Spg11	UTSW	2	121,927,850 (GRCm39)	missense	probably damaging	0.99
R0357:Spg11	UTSW	2	121,896,713 (GRCm39)	splice site	probably benign
R0372:Spg11	UTSW	2	121,889,928 (GRCm39)	frame shift	probably null
R0715:Spg11	UTSW	2	121,915,464 (GRCm39)	missense	probably benign	0.03
R0927:Spg11	UTSW	2	121,924,968 (GRCm39)	missense	probably damaging	0.99
R1163:Spg11	UTSW	2	121,901,422 (GRCm39)	missense	probably damaging	1.00
R1534:Spg11	UTSW	2	121,922,806 (GRCm39)	missense	probably damaging	1.00
R1555:Spg11	UTSW	2	121,927,858 (GRCm39)	missense	probably damaging	0.99
R1569:Spg11	UTSW	2	121,932,187 (GRCm39)	missense	probably damaging	0.99
R1840:Spg11	UTSW	2	121,932,237 (GRCm39)	missense	probably damaging	1.00
R1929:Spg11	UTSW	2	121,890,688 (GRCm39)	missense	probably damaging	1.00
R2265:Spg11	UTSW	2	121,938,788 (GRCm39)	missense	possibly damaging	0.48
R2303:Spg11	UTSW	2	121,899,318 (GRCm39)	missense	probably damaging	0.99
R2510:Spg11	UTSW	2	121,905,791 (GRCm39)	missense	probably benign	0.03
R2760:Spg11	UTSW	2	121,927,840 (GRCm39)	missense	probably damaging	0.99
R2918:Spg11	UTSW	2	121,905,782 (GRCm39)	missense	probably damaging	0.99
R3195:Spg11	UTSW	2	121,913,879 (GRCm39)	critical splice donor site	probably null
R3423:Spg11	UTSW	2	121,901,534 (GRCm39)	missense	probably benign	0.00
R4353:Spg11	UTSW	2	121,943,675 (GRCm39)	missense	possibly damaging	0.92
R4407:Spg11	UTSW	2	121,905,813 (GRCm39)	missense	probably benign	0.00
R4644:Spg11	UTSW	2	121,891,510 (GRCm39)	missense	probably benign	0.03
R4663:Spg11	UTSW	2	121,928,580 (GRCm39)	critical splice donor site	probably null
R4684:Spg11	UTSW	2	121,895,557 (GRCm39)	missense	probably damaging	1.00
R4771:Spg11	UTSW	2	121,895,963 (GRCm39)	nonsense	probably null
R4810:Spg11	UTSW	2	121,890,277 (GRCm39)	missense	probably damaging	1.00
R4829:Spg11	UTSW	2	121,938,936 (GRCm39)	missense	probably benign	0.44
R5089:Spg11	UTSW	2	121,945,198 (GRCm39)	nonsense	probably null
R5362:Spg11	UTSW	2	121,891,481 (GRCm39)	missense	probably damaging	0.99
R5684:Spg11	UTSW	2	121,923,984 (GRCm39)	missense	probably damaging	1.00
R5899:Spg11	UTSW	2	121,928,680 (GRCm39)	missense	possibly damaging	0.67
R5923:Spg11	UTSW	2	121,923,959 (GRCm39)	missense	probably damaging	0.98
R6052:Spg11	UTSW	2	121,927,837 (GRCm39)	missense	probably damaging	0.99
R6111:Spg11	UTSW	2	121,923,963 (GRCm39)	missense	probably damaging	0.98
R6174:Spg11	UTSW	2	121,917,286 (GRCm39)	splice site	probably null
R6226:Spg11	UTSW	2	121,918,743 (GRCm39)	missense	possibly damaging	0.69
R6336:Spg11	UTSW	2	121,943,440 (GRCm39)	splice site	probably null
R6480:Spg11	UTSW	2	121,922,786 (GRCm39)	missense	probably benign	0.03
R6494:Spg11	UTSW	2	121,943,706 (GRCm39)	missense	probably damaging	0.98
R6582:Spg11	UTSW	2	121,922,773 (GRCm39)	missense	probably damaging	0.99
R6714:Spg11	UTSW	2	121,926,212 (GRCm39)	missense	probably damaging	0.99
R6791:Spg11	UTSW	2	121,923,924 (GRCm39)	missense	probably damaging	0.99
R6836:Spg11	UTSW	2	121,890,016 (GRCm39)	missense	probably damaging	1.00
R6928:Spg11	UTSW	2	121,900,385 (GRCm39)	missense	probably benign	0.37
R7179:Spg11	UTSW	2	121,932,270 (GRCm39)	splice site	probably null
R7229:Spg11	UTSW	2	121,938,585 (GRCm39)	missense	probably damaging	0.98
R7337:Spg11	UTSW	2	121,915,474 (GRCm39)	missense	probably benign	0.09
R7338:Spg11	UTSW	2	121,885,858 (GRCm39)	missense	probably damaging	1.00
R7351:Spg11	UTSW	2	121,900,412 (GRCm39)	missense	possibly damaging	0.95
R7378:Spg11	UTSW	2	121,888,910 (GRCm39)	missense	probably damaging	1.00
R7448:Spg11	UTSW	2	121,924,026 (GRCm39)	critical splice acceptor site	probably null
R7505:Spg11	UTSW	2	121,905,832 (GRCm39)	nonsense	probably null
R7665:Spg11	UTSW	2	121,896,748 (GRCm39)	missense	probably damaging	0.99
R7685:Spg11	UTSW	2	121,899,361 (GRCm39)	missense	probably damaging	0.99
R7779:Spg11	UTSW	2	121,901,420 (GRCm39)	missense	probably damaging	1.00
R7947:Spg11	UTSW	2	121,922,803 (GRCm39)	missense	probably damaging	1.00
R7958:Spg11	UTSW	2	121,923,426 (GRCm39)	splice site	probably null
R8024:Spg11	UTSW	2	121,927,802 (GRCm39)	missense	possibly damaging	0.67
R8033:Spg11	UTSW	2	121,917,432 (GRCm39)	missense	probably damaging	1.00
R8069:Spg11	UTSW	2	121,943,637 (GRCm39)	missense	probably benign
R8121:Spg11	UTSW	2	121,900,348 (GRCm39)	critical splice donor site	probably null
R8252:Spg11	UTSW	2	121,918,820 (GRCm39)	splice site	probably benign
R8358:Spg11	UTSW	2	121,910,739 (GRCm39)	missense	possibly damaging	0.69
R8362:Spg11	UTSW	2	121,948,842 (GRCm39)	missense	unknown
R8385:Spg11	UTSW	2	121,927,802 (GRCm39)	missense	probably benign	0.22
R8406:Spg11	UTSW	2	121,923,923 (GRCm39)	missense	probably damaging	0.99
R8480:Spg11	UTSW	2	121,943,560 (GRCm39)	missense	probably damaging	1.00
R8810:Spg11	UTSW	2	121,901,425 (GRCm39)	missense	probably damaging	0.98
R8883:Spg11	UTSW	2	121,943,561 (GRCm39)	missense	probably damaging	1.00
R8968:Spg11	UTSW	2	121,922,687 (GRCm39)	missense	probably damaging	0.99
R9008:Spg11	UTSW	2	121,900,413 (GRCm39)	missense	probably benign	0.05
R9059:Spg11	UTSW	2	121,918,788 (GRCm39)	missense	probably damaging	0.99
R9296:Spg11	UTSW	2	121,945,175 (GRCm39)	missense	probably benign	0.34
R9333:Spg11	UTSW	2	121,932,244 (GRCm39)	missense	probably damaging	0.99
R9657:Spg11	UTSW	2	121,910,781 (GRCm39)	missense	probably damaging	1.00
R9774:Spg11	UTSW	2	121,938,965 (GRCm39)	missense	probably damaging	0.99
Z1177:Spg11	UTSW	2	121,903,466 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02