Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01626:Spg11'

92761

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 #

IGL01626

Quality Score

Status

Chromosome

Chromosomal Location

121884001-121948867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121891452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1973 (H1973L)

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: H1973L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: H1973L

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,926,595 (GRCm39)	D188G	probably damaging	Het
Aoc1	A	G	6: 48,883,465 (GRCm39)	Y447C	probably damaging	Het
Brd1	A	T	15: 88,585,090 (GRCm39)	L915M	probably damaging	Het
Cacna2d3	T	A	14: 28,665,564 (GRCm39)	E152D	possibly damaging	Het
Dnase2b	A	G	3: 146,290,371 (GRCm39)		probably null	Het
Ecpas	G	A	4: 58,832,814 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,005,181 (GRCm39)	V1860A	probably damaging	Het
Fbxl5	C	A	5: 43,916,047 (GRCm39)	G455V	probably benign	Het
Fpr-rs4	G	A	17: 18,242,493 (GRCm39)	V167M	probably damaging	Het
Fut7	C	A	2: 25,315,343 (GRCm39)	Y153*	probably null	Het
Gnptab	A	G	10: 88,273,357 (GRCm39)	T1045A	probably damaging	Het
Gucy1a1	T	A	3: 82,015,926 (GRCm39)	D354V	probably damaging	Het
Gucy2e	A	G	11: 69,123,681 (GRCm39)	V406A	possibly damaging	Het
Herc2	T	C	7: 55,734,890 (GRCm39)	F160S	probably benign	Het
Ice2	T	G	9: 69,314,614 (GRCm39)	V42G	probably benign	Het
L3mbtl4	A	G	17: 68,937,197 (GRCm39)	Y406C	probably damaging	Het
Lepr	C	T	4: 101,590,731 (GRCm39)	T103I	probably benign	Het
Ly75	T	A	2: 60,131,359 (GRCm39)	M1589L	probably benign	Het
Map4k3	A	G	17: 80,913,238 (GRCm39)	V644A	probably damaging	Het
Micall1	A	G	15: 79,014,712 (GRCm39)	D696G	possibly damaging	Het
Muc4	T	C	16: 32,555,220 (GRCm39)	V8A	possibly damaging	Het
Myo1h	A	G	5: 114,453,027 (GRCm39)	D9G	probably damaging	Het
Nop14	T	A	5: 34,806,689 (GRCm39)	K472*	probably null	Het
Npat	T	A	9: 53,467,871 (GRCm39)	D275E	possibly damaging	Het
Nt5c1b	A	G	12: 10,424,798 (GRCm39)	T115A	probably benign	Het
Or2d3c	A	T	7: 106,526,627 (GRCm39)	I13N	probably benign	Het
Or6n1	A	G	1: 173,917,122 (GRCm39)	N172S	probably damaging	Het
Pnpla7	T	A	2: 24,940,905 (GRCm39)	S1086T	possibly damaging	Het
Pold1	C	T	7: 44,182,796 (GRCm39)		probably null	Het
Ppfia1	A	G	7: 144,035,456 (GRCm39)	F1165L	probably benign	Het
Prlr	T	A	15: 10,328,804 (GRCm39)	D426E	probably benign	Het
Ptgs2	G	A	1: 149,979,478 (GRCm39)	R231H	probably damaging	Het
Rorc	A	G	3: 94,296,094 (GRCm39)	D91G	probably damaging	Het
Scaper	C	T	9: 55,819,335 (GRCm39)	V127M	possibly damaging	Het
Sema3g	A	T	14: 30,943,684 (GRCm39)	Y188F	probably damaging	Het
Slc45a3	G	T	1: 131,906,725 (GRCm39)	A400S	possibly damaging	Het
Slc9b2	C	A	3: 135,042,156 (GRCm39)	H478Q	probably benign	Het
Srgap3	A	G	6: 112,750,609 (GRCm39)	Y359H	probably damaging	Het
Stx16	T	G	2: 173,935,813 (GRCm39)	I248S	probably damaging	Het
Sytl3	A	G	17: 7,002,839 (GRCm39)	R287G	probably damaging	Het
Tiam1	T	C	16: 89,609,856 (GRCm39)	T82A	probably damaging	Het
Trpm1	T	C	7: 63,918,637 (GRCm39)	L659P	probably damaging	Het
Ttc13	G	A	8: 125,400,477 (GRCm39)		probably benign	Het
Unc80	T	C	1: 66,590,213 (GRCm39)		probably null	Het
Vldlr	G	T	19: 27,221,173 (GRCm39)	R613L	probably damaging	Het
Wdr77	C	T	3: 105,867,002 (GRCm39)	R35*	probably null	Het
Zc3h14	T	G	12: 98,745,445 (GRCm39)	I478R	possibly damaging	Het
Zfp366	A	G	13: 99,364,920 (GRCm39)	H27R	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
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
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

2013-12-09