Mutagenetix > Incidental Mutation

Incidental Mutation 'R2918:Spg11'

255362

Institutional Source

Beutler Lab

Gene Symbol

Spg11

Ensembl Gene

ENSMUSG00000033396

Gene Name

SPG11, spatacsin vesicle trafficking associated

Synonyms

6030465E24Rik, C530005A01Rik, spastic paraplegia 11

MMRRC Submission

040503-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R2918 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121884001-121948867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121905782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1288 (S1288P)

Ref Sequence

ENSEMBL: ENSMUSP00000037543 (fasta)

Gene Model

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

AlphaFold

Q3UHA3

Predicted Effect

probably damaging
Transcript: ENSMUST00000036450
AA Change: S1288P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: S1288P

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	G	2: 22,989,579 (GRCm39)	N401D	probably benign	Het
Agtpbp1	T	A	13: 59,644,829 (GRCm39)	D679V	possibly damaging	Het
Akap8	A	G	17: 32,524,622 (GRCm39)	V558A	probably benign	Het
Arrdc2	C	T	8: 71,290,171 (GRCm39)	R170Q	probably benign	Het
Atg10	A	T	13: 91,189,027 (GRCm39)	H94Q	probably damaging	Het
Atg4a-ps	G	A	3: 103,552,837 (GRCm39)	A168V	probably damaging	Het
Crb2	G	T	2: 37,673,395 (GRCm39)	R97L	probably benign	Het
Dnaja1	C	T	4: 40,724,052 (GRCm39)	A71V	possibly damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
G6pd2	A	G	5: 61,966,869 (GRCm39)	R215G	probably damaging	Het
Hcn3	A	G	3: 89,054,920 (GRCm39)	S776P	probably benign	Het
Ift140	C	A	17: 25,254,805 (GRCm39)	N159K	possibly damaging	Het
Mafa	A	G	15: 75,619,147 (GRCm39)	S209P	probably benign	Het
Mug2	A	G	6: 122,051,683 (GRCm39)		probably null	Het
Myh14	T	C	7: 44,265,687 (GRCm39)	D1564G	possibly damaging	Het
Ncor2	T	A	5: 125,102,824 (GRCm39)	I1792F	probably damaging	Het
Nod2	T	C	8: 89,379,519 (GRCm39)	F7L	probably benign	Het
Odad2	G	A	18: 7,222,625 (GRCm39)	S548L	probably benign	Het
Or10d5	A	G	9: 39,861,660 (GRCm39)	S136P	probably benign	Het
Or1m1	T	A	9: 18,666,775 (GRCm39)	D52V	probably damaging	Het
Or2aa1	T	C	11: 59,480,265 (GRCm39)	T217A	probably benign	Het
Pak3	T	C	X: 142,547,972 (GRCm39)	V318A	probably damaging	Het
Pik3ap1	T	C	19: 41,290,970 (GRCm39)	T521A	probably benign	Het
Pkdcc	G	C	17: 83,523,378 (GRCm39)	A162P	probably benign	Het
Rassf4	A	G	6: 116,618,701 (GRCm39)	V194A	probably damaging	Het
Scp2d1	T	A	2: 144,665,868 (GRCm39)	I69N	probably damaging	Het
Sptb	A	G	12: 76,645,532 (GRCm39)	S2019P	probably damaging	Het
Stxbp5l	A	T	16: 37,021,004 (GRCm39)	L630*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,707,084 (GRCm39)		probably benign	Het
Trpc1	C	T	9: 95,605,182 (GRCm39)	R159H	probably damaging	Het
Zbtb14	C	T	17: 69,695,214 (GRCm39)	P304L	probably 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
IGL02992:Spg11	APN	2	121,888,879 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAATTAATGAGGCTCAGGGTCATTC -3'
(R):5'- TATTTTCTAGGATCCAGCAAGTAGG -3'

Sequencing Primer
(F):5'- TGAGGCTCAGGGTCATTCAAACC -3'
(R):5'- GCAAGGAGGCCTATACCTTAG -3'

Posted On

2014-12-29