Mutagenetix > Incidental Mutation

Incidental Mutation 'R8362:Spg11'

645986

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

067808-MU

Accession Numbers

Essential gene?

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

Stock #

R8362 (G1)

Quality Score

129.008

Status

Not validated

Chromosome

Chromosomal Location

121884001-121948867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121948842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 3 (A3D)

Ref Sequence

ENSEMBL: ENSMUSP00000037543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028665] [ENSMUST00000036450]

AlphaFold

Q3UHA3

Predicted Effect

probably benign
Transcript: ENSMUST00000028665

SMART Domains

Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233

Domain	Start	End	E-Value	Type
low complexity region	33	41	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
Pfam:PAT1	247	490	6.7e-12	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000036450
AA Change: A3D

SMART Domains

Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: A3D

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	A	19: 8,867,395 (GRCm39)	S65T	probably damaging	Het
Abcb1b	A	T	5: 8,848,758 (GRCm39)	N6I	probably benign	Het
Abr	A	T	11: 76,369,954 (GRCm39)	I145N	probably benign	Het
Alcam	A	T	16: 52,115,387 (GRCm39)	Y244N	probably damaging	Het
Amotl1	G	A	9: 14,556,218 (GRCm39)	A36V	probably benign	Het
Ankrd11	A	T	8: 123,618,797 (GRCm39)	L1685Q	probably damaging	Het
Ascc3	A	C	10: 50,518,692 (GRCm39)	Q332H	possibly damaging	Het
Cdc42bpa	C	T	1: 179,989,690 (GRCm39)	L1720F	probably damaging	Het
Clec4b1	T	C	6: 123,027,602 (GRCm39)	S20P	probably benign	Het
Cpt1a	C	T	19: 3,420,744 (GRCm39)	R401*	probably null	Het
Dnah12	T	A	14: 26,576,788 (GRCm39)	Y3013N	probably damaging	Het
Dop1a	G	A	9: 86,395,941 (GRCm39)	R801H	probably benign	Het
Flywch1	G	T	17: 23,975,682 (GRCm39)	T520N	probably damaging	Het
Fndc1	A	G	17: 8,001,207 (GRCm39)	S190P	unknown	Het
Gabra1	G	T	11: 42,066,831 (GRCm39)	Q28K	probably benign	Het
Gria2	T	C	3: 80,615,197 (GRCm39)	M428V	possibly damaging	Het
H13	T	A	2: 152,528,311 (GRCm39)	I220N	unknown	Het
Hars2	T	A	18: 36,923,228 (GRCm39)	F412L	probably benign	Het
Hecw2	A	T	1: 54,079,650 (GRCm39)	M1K	probably null	Het
Homer1	T	A	13: 93,502,797 (GRCm39)	S192T	unknown	Het
Itga2b	T	A	11: 102,352,189 (GRCm39)	D464V	probably damaging	Het
Ivd	T	A	2: 118,708,422 (GRCm39)	C379S	probably damaging	Het
Khdc3	A	T	9: 73,010,848 (GRCm39)	N233Y	possibly damaging	Het
Lrrc37	A	G	11: 103,506,163 (GRCm39)	V1935A	probably benign	Het
Lrrfip1	T	A	1: 90,981,423 (GRCm39)	L15Q	probably damaging	Het
Megf8	C	A	7: 25,039,943 (GRCm39)	P986Q	probably benign	Het
Morc2b	G	T	17: 33,357,295 (GRCm39)	T159K	possibly damaging	Het
Nudt5	A	G	2: 5,858,322 (GRCm39)		probably null	Het
Or6c211	G	T	10: 129,506,100 (GRCm39)	A96E	possibly damaging	Het
Paqr5	A	T	9: 61,879,945 (GRCm39)	Y116*	probably null	Het
Pcnx1	A	C	12: 82,013,830 (GRCm39)	S623R		Het
Polr1a	T	C	6: 71,941,651 (GRCm39)	V1053A	probably benign	Het
Ptprt	A	T	2: 161,393,667 (GRCm39)	D1252E	probably damaging	Het
Qser1	A	G	2: 104,620,246 (GRCm39)	S189P	probably damaging	Het
Rasal1	C	T	5: 120,813,485 (GRCm39)	R620W	probably damaging	Het
Rbms1	C	T	2: 60,793,083 (GRCm39)	M9I	probably benign	Het
Ska3	T	C	14: 58,054,105 (GRCm39)	N282D	probably benign	Het
Slc25a24	T	A	3: 109,065,878 (GRCm39)	I245N	possibly damaging	Het
Slc26a4	C	T	12: 31,594,506 (GRCm39)	V281I	probably benign	Het
Smg8	A	T	11: 86,968,881 (GRCm39)	Y958*	probably null	Het
Spata31	A	G	13: 65,070,044 (GRCm39)	T731A	possibly damaging	Het
Srgap1	A	G	10: 121,691,383 (GRCm39)	Y284H	possibly damaging	Het
Stt3b	A	G	9: 115,083,988 (GRCm39)	I396T	probably damaging	Het
Tnxb	A	G	17: 34,931,946 (GRCm39)	T2160A	probably damaging	Het
Tprg1l	G	C	4: 154,244,815 (GRCm39)	T91S	possibly damaging	Het
Ush2a	G	A	1: 188,689,650 (GRCm39)	V5071I	probably damaging	Het
Vmn2r60	T	A	7: 41,844,954 (GRCm39)	N772K	probably damaging	Het
Vmn2r81	T	A	10: 79,103,283 (GRCm39)	W159R	probably benign	Het
Vmn2r93	G	A	17: 18,546,353 (GRCm39)	V742I	probably benign	Het
Zc3h13	C	A	14: 75,561,909 (GRCm39)	H654N	unknown	Het
Zfp516	T	C	18: 83,005,019 (GRCm39)	L641P	probably benign	Het
Zfp623	T	C	15: 75,819,488 (GRCm39)	V148A	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
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
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'- AAAGCACTTGGAGACTGCC -3'
(R):5'- CTTTGGTAGCAAGGACAGCAC -3'

Sequencing Primer
(F):5'- GTCTCCTCAGCTGGGAT -3'
(R):5'- AAAGGCCCTGGCGTATTATTG -3'

Posted On

2020-09-02