Mutagenetix > Incidental Mutation

Incidental Mutation 'R1534:Spg11'

166805

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

039573-MU

Accession Numbers

Essential gene?

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

Stock #

R1534 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121884001-121948867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121922806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 881 (T881M)

Ref Sequence

ENSEMBL: ENSMUSP00000037543 (fasta)

Gene Model

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

AlphaFold

Q3UHA3

Predicted Effect

probably damaging
Transcript: ENSMUST00000036450
AA Change: T881M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: T881M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,345,881 (GRCm39)	I310T	probably damaging	Het
Adcy5	T	C	16: 35,073,629 (GRCm39)	V469A	possibly damaging	Het
Agrn	C	T	4: 156,261,141 (GRCm39)	C652Y	probably damaging	Het
Ankfn1	C	T	11: 89,413,977 (GRCm39)	V133M	probably damaging	Het
Ankrd13c	A	G	3: 157,706,757 (GRCm39)	T448A	probably benign	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
B4galt2	T	C	4: 117,734,669 (GRCm39)	H233R	probably damaging	Het
Bpifb5	T	G	2: 154,071,419 (GRCm39)	Y249D	possibly damaging	Het
Brd1	T	C	15: 88,573,866 (GRCm39)	I1078V	possibly damaging	Het
Celsr3	A	G	9: 108,726,083 (GRCm39)	E3104G	probably damaging	Het
Cyp2c69	T	A	19: 39,839,593 (GRCm39)	K343N	probably benign	Het
Cyp4f18	T	A	8: 72,746,799 (GRCm39)	D331V	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,378 (GRCm39)	V261A	possibly damaging	Het
Dchs1	T	C	7: 105,421,247 (GRCm39)	D391G	probably damaging	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,944,238 (GRCm39)	F1044L	probably damaging	Het
Frrs1	A	T	3: 116,672,057 (GRCm39)	T52S	probably benign	Het
Gan	G	A	8: 117,914,168 (GRCm39)	V189I	probably benign	Het
Hnf1b	A	G	11: 83,784,409 (GRCm39)		probably benign	Het
Itgae	T	C	11: 73,036,431 (GRCm39)	I1123T	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lrrc18	A	G	14: 32,730,478 (GRCm39)	K6E	possibly damaging	Het
Map2	G	A	1: 66,452,339 (GRCm39)	V492I	probably benign	Het
Mtr	A	T	13: 12,250,430 (GRCm39)		probably benign	Het
Ncor1	G	T	11: 62,269,330 (GRCm39)	A689E	possibly damaging	Het
Or52n2c	G	A	7: 104,574,621 (GRCm39)	L117F	possibly damaging	Het
Or5w22	T	A	2: 87,363,016 (GRCm39)	V213D	probably damaging	Het
Palm	T	G	10: 79,652,737 (GRCm39)	V42G	probably damaging	Het
Pcm1	G	A	8: 41,740,738 (GRCm39)	V995I	probably benign	Het
Pfkp	A	G	13: 6,669,574 (GRCm39)	V215A	probably damaging	Het
Prkg2	T	C	5: 99,142,420 (GRCm39)	Y238C	probably damaging	Het
Prr14	C	T	7: 127,073,154 (GRCm39)	A167V	probably benign	Het
Ptprn	A	C	1: 75,234,587 (GRCm39)		probably null	Het
Rexo2	A	T	9: 48,380,190 (GRCm39)	I214N	probably damaging	Het
Rrbp1	A	G	2: 143,830,233 (GRCm39)	S645P	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Satb2	A	T	1: 56,987,392 (GRCm39)	C64*	probably null	Het
Sez6	A	G	11: 77,853,871 (GRCm39)	Y347C	probably damaging	Het
Sos2	A	G	12: 69,663,729 (GRCm39)	I585T	probably damaging	Het
Tiam1	A	T	16: 89,664,396 (GRCm39)		probably null	Het
Tlcd5	A	G	9: 43,022,923 (GRCm39)	W126R	probably damaging	Het
Top1	T	C	2: 160,556,152 (GRCm39)	I537T	probably damaging	Het
Trappc6a	A	G	7: 19,248,138 (GRCm39)	S33G	probably benign	Het
Tspan11	G	C	6: 127,926,768 (GRCm39)	V239L	probably benign	Het
Ubr4	T	C	4: 139,155,462 (GRCm39)	V2190A	possibly damaging	Het
Usp28	A	G	9: 48,896,806 (GRCm39)	D9G	possibly damaging	Het
Uty	A	G	Y: 1,245,440 (GRCm39)	V35A	probably benign	Het
Vmn2r56	A	G	7: 12,427,954 (GRCm39)	S771P	probably benign	Het
Wars2	C	T	3: 99,124,177 (GRCm39)	A346V	probably damaging	Het
Wdr87-ps	G	T	7: 29,229,854 (GRCm39)		noncoding transcript	Het
Zfp142	G	T	1: 74,611,247 (GRCm39)	N849K	probably benign	Het
Zfp180	A	T	7: 23,800,948 (GRCm39)	N66I	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTCTGATCCCGCAGCTACAGTACC -3'
(R):5'- TTCACTGTCGCAGCCTAAGCTC -3'

Sequencing Primer
(F):5'- ATGATGTCAGCACTCAGAGG -3'
(R):5'- AGCCTAAGCTCTTCTGTGTCAG -3'

Posted On

2014-04-13