Mutagenetix > Incidental Mutation

Incidental Mutation 'R0715:Spg11'

62805

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

038898-MU

Accession Numbers

Essential gene?

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

Stock #

R0715 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

121884001-121948867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121915464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1060 (N1060S)

Ref Sequence

ENSEMBL: ENSMUSP00000037543 (fasta)

Gene Model

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

AlphaFold

Q3UHA3

Predicted Effect

probably benign
Transcript: ENSMUST00000036450
AA Change: N1060S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: N1060S

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

Meta Mutation Damage Score

0.0639

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (61/62)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	G	11: 58,179,176 (GRCm39)	Y170C	probably damaging	Het
Adcy2	C	T	13: 69,036,161 (GRCm39)	V167I	probably benign	Het
Agl	A	G	3: 116,545,825 (GRCm39)	Y1324H	probably damaging	Het
Arhgef37	G	T	18: 61,641,860 (GRCm39)	Q170K	probably damaging	Het
Asah2	A	G	19: 31,994,176 (GRCm39)	S390P	probably damaging	Het
Atp8a1	A	T	5: 67,932,068 (GRCm39)	H240Q	probably benign	Het
Btbd16	T	A	7: 130,390,557 (GRCm39)	N151K	probably damaging	Het
Ccdc73	T	A	2: 104,803,499 (GRCm39)		probably benign	Het
Cecr2	G	T	6: 120,735,159 (GRCm39)	M21I	probably benign	Het
Ckap2l	T	C	2: 129,127,636 (GRCm39)	T181A	probably benign	Het
Col4a3	T	C	1: 82,629,879 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,252,576 (GRCm39)	C1933S	probably benign	Het
Dnah9	A	G	11: 65,972,074 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,611,706 (GRCm39)	L516P	possibly damaging	Het
Fat3	T	C	9: 16,286,419 (GRCm39)	T1035A	probably benign	Het
Fzd8	A	G	18: 9,212,947 (GRCm39)	T10A	unknown	Het
Gm9631	C	A	11: 121,833,328 (GRCm39)	C636F	probably damaging	Het
Gp1ba	A	G	11: 70,531,614 (GRCm39)		probably benign	Het
Gsk3a	A	G	7: 24,931,134 (GRCm39)	V277A	probably damaging	Het
H2-M1	T	A	17: 36,981,120 (GRCm39)		probably benign	Het
Hesx1	T	A	14: 26,722,809 (GRCm39)	W45R	probably damaging	Het
Il23r	T	A	6: 67,463,317 (GRCm39)	M59L	possibly damaging	Het
Insc	T	A	7: 114,444,312 (GRCm39)	V433E	probably benign	Het
Itga8	T	C	2: 12,196,053 (GRCm39)		probably benign	Het
Kif13a	T	A	13: 46,966,299 (GRCm39)	E436V	probably damaging	Het
Liph	A	G	16: 21,814,100 (GRCm39)	F7S	probably benign	Het
Lpar2	T	C	8: 70,276,823 (GRCm39)	V204A	probably damaging	Het
Lrfn4	T	A	19: 4,662,668 (GRCm39)		probably null	Het
Man2b2	A	T	5: 36,983,402 (GRCm39)	D182E	probably benign	Het
Mmp27	T	C	9: 7,581,156 (GRCm39)		probably benign	Het
Mrm1	A	G	11: 84,705,639 (GRCm39)		probably benign	Het
Mtx3	T	C	13: 92,986,869 (GRCm39)	S271P	probably damaging	Het
Myh11	A	T	16: 14,044,480 (GRCm39)	M641K	possibly damaging	Het
Necab2	A	G	8: 120,197,670 (GRCm39)	D332G	probably damaging	Het
Ngfr	A	G	11: 95,465,065 (GRCm39)	I261T	possibly damaging	Het
Nrap	T	C	19: 56,345,757 (GRCm39)	E617G	probably damaging	Het
Obscn	G	T	11: 58,941,306 (GRCm39)	T4505K	probably benign	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Or8b57	A	G	9: 40,003,807 (GRCm39)	Y148H	probably damaging	Het
Osbpl11	T	A	16: 33,062,100 (GRCm39)		probably benign	Het
Otof	A	G	5: 30,552,041 (GRCm39)	V301A	probably damaging	Het
Phf3	A	T	1: 30,850,919 (GRCm39)	L1145Q	probably damaging	Het
Phospho2	T	A	2: 69,626,540 (GRCm39)	I232N	possibly damaging	Het
Pomgnt2	T	A	9: 121,811,127 (GRCm39)	K551N	probably damaging	Het
Ptchd3	A	G	11: 121,721,984 (GRCm39)	T286A	possibly damaging	Het
Rnf213	A	G	11: 119,331,976 (GRCm39)	D2396G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,373,341 (GRCm39)	E836G	possibly damaging	Het
Simc1	G	T	13: 54,673,468 (GRCm39)	M605I	possibly damaging	Het
Slc12a3	G	A	8: 95,056,061 (GRCm39)	E66K	possibly damaging	Het
Supt5	A	T	7: 28,028,462 (GRCm39)	W178R	probably damaging	Het
Tmem41a	G	T	16: 21,756,740 (GRCm39)	F126L	probably benign	Het
Ube2m	T	A	7: 12,771,553 (GRCm39)	Q35L	probably benign	Het
Usp33	A	G	3: 152,086,211 (GRCm39)	D658G	probably damaging	Het
Vmn2r12	A	T	5: 109,238,373 (GRCm39)	C456S	probably benign	Het
Vmn2r81	T	A	10: 79,104,434 (GRCm39)	D352E	probably damaging	Het
Zfp516	A	G	18: 83,005,388 (GRCm39)	Y764C	probably damaging	Het
Zswim7	A	G	11: 62,167,473 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- CATGCTCACCGATCTAACAGGATGC -3'
(R):5'- AATCACTGCTGCTCCAGTTGACC -3'

Sequencing Primer
(F):5'- CACTTTAGCACCAACTGAGATTTAC -3'
(R):5'- TTTATGAAGGTGAATCCCCCAC -3'

Posted On

2013-07-30