Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Spg11'

657459

Institutional Source

Beutler Lab

Gene Symbol

Spg11

Ensembl Gene

ENSMUSG00000033396

Gene Name

SPG11, spatacsin vesicle trafficking associated

Synonyms

C530005A01Rik, 6030465E24Rik

MMRRC Submission

067924-MU

Accession Numbers

Genbank: NM_145531

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122053520-122118386 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 122113079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 197 (D197E)

Ref Sequence

ENSEMBL: ENSMUSP00000037543 (fasta)

Gene Model

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

AlphaFold

Q3UHA3

Predicted Effect

probably damaging
Transcript: ENSMUST00000036450
AA Change: D197E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: D197E

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

0.0903

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,187,458 (GRCm38)	P720Q	possibly damaging	Het
Acvr1b	G	A	15: 101,210,839 (GRCm38)	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459 (GRCm38)	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164 (GRCm38)	E60K	probably benign	Het
Alb	T	C	5: 90,462,771 (GRCm38)	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427 (GRCm38)		probably benign	Het
Aste1	G	A	9: 105,396,990 (GRCm38)	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,397,796 (GRCm38)	T351S	probably damaging	Het
Bace2	T	A	16: 97,413,470 (GRCm38)	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275 (GRCm38)	G235R	probably damaging	Het
Brwd1	A	T	16: 96,047,430 (GRCm38)	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144 (GRCm38)		probably null	Het
Cdh22	T	A	2: 165,146,726 (GRCm38)	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085 (GRCm38)	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902 (GRCm38)	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394 (GRCm38)	D1234G	probably benign	Het
Cpt2	A	G	4: 107,907,760 (GRCm38)	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793 (GRCm38)	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400 (GRCm38)	Q436K	probably benign	Het
Dlec1	G	A	9: 119,143,267 (GRCm38)		probably null	Het
Dock5	T	A	14: 67,836,410 (GRCm38)	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968 (GRCm38)	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506 (GRCm38)	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926 (GRCm38)	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570 (GRCm38)		probably null	Het
Hsph1	A	T	5: 149,627,564 (GRCm38)	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382 (GRCm38)	G27R	possibly damaging	Het
Impad1	C	T	4: 4,769,376 (GRCm38)	M246I	probably benign	Het
Krt26	T	C	11: 99,337,600 (GRCm38)	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145 (GRCm38)		probably null	Het
Krt36	T	C	11: 100,102,809 (GRCm38)	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131 (GRCm38)	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936 (GRCm38)	N758S	probably damaging	Het
Mkl2	A	T	16: 13,384,192 (GRCm38)		probably null	Het
Muc4	C	T	16: 32,752,993 (GRCm38)	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235 (GRCm38)	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644 (GRCm38)	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370 (GRCm38)	L72F	possibly damaging	Het
Olfr1316	A	T	2: 112,129,985 (GRCm38)	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065 (GRCm38)	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280 (GRCm38)	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505 (GRCm38)	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,263,418 (GRCm38)	M814K	probably benign	Het
Sh3d19	T	G	3: 86,084,877 (GRCm38)	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166 (GRCm38)	Y759C	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069 (GRCm38)		probably null	Het
Ssc5d	A	T	7: 4,936,329 (GRCm38)	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116 (GRCm38)	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818 (GRCm38)	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873 (GRCm38)		probably null	Het
Ube2e3	T	C	2: 78,918,814 (GRCm38)	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768 (GRCm38)	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899 (GRCm38)	P670Q	probably damaging	Het
Zw10	C	T	9: 49,074,999 (GRCm38)	A660V	probably benign	Het

Other mutations in Spg11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Spg11	APN	2	122,065,560 (GRCm38)	missense	probably damaging	0.96
IGL00495:Spg11	APN	2	122,094,456 (GRCm38)	critical splice donor site	probably null
IGL00757:Spg11	APN	2	122,070,959 (GRCm38)	missense	probably benign	0.05
IGL01304:Spg11	APN	2	122,072,290 (GRCm38)	missense	probably damaging	1.00
IGL01355:Spg11	APN	2	122,113,156 (GRCm38)	missense	probably benign
IGL01626:Spg11	APN	2	122,060,971 (GRCm38)	missense	probably damaging	0.98
IGL01739:Spg11	APN	2	122,114,671 (GRCm38)	missense	probably damaging	1.00
IGL01835:Spg11	APN	2	122,088,224 (GRCm38)	missense	probably benign	0.36
IGL02129:Spg11	APN	2	122,095,686 (GRCm38)	missense	probably damaging	0.99
IGL02178:Spg11	APN	2	122,097,302 (GRCm38)	missense	probably damaging	1.00
IGL02199:Spg11	APN	2	122,059,553 (GRCm38)	missense	probably damaging	1.00
IGL02212:Spg11	APN	2	122,108,157 (GRCm38)	missense	probably benign	0.31
IGL02605:Spg11	APN	2	122,092,260 (GRCm38)	missense	probably benign	0.00
IGL02635:Spg11	APN	2	122,113,068 (GRCm38)	missense	possibly damaging	0.52
IGL02743:Spg11	APN	2	122,059,507 (GRCm38)	missense	probably damaging	0.97
IGL02822:Spg11	APN	2	122,074,534 (GRCm38)	missense	probably damaging	0.99
IGL02992:Spg11	APN	2	122,058,398 (GRCm38)	missense	probably damaging	1.00
IGL03010:Spg11	APN	2	122,088,320 (GRCm38)	missense	probably damaging	0.96
3-1:Spg11	UTSW	2	122,086,890 (GRCm38)	missense	probably damaging	0.98
PIT4354001:Spg11	UTSW	2	122,088,185 (GRCm38)	missense	probably damaging	0.98
R0131:Spg11	UTSW	2	122,070,968 (GRCm38)	missense	probably damaging	1.00
R0206:Spg11	UTSW	2	122,055,696 (GRCm38)	critical splice donor site	probably null
R0208:Spg11	UTSW	2	122,055,696 (GRCm38)	critical splice donor site	probably null
R0302:Spg11	UTSW	2	122,092,187 (GRCm38)	missense	possibly damaging	0.90
R0347:Spg11	UTSW	2	122,097,369 (GRCm38)	missense	probably damaging	0.99
R0357:Spg11	UTSW	2	122,066,232 (GRCm38)	splice site	probably benign
R0372:Spg11	UTSW	2	122,059,447 (GRCm38)	frame shift	probably null
R0715:Spg11	UTSW	2	122,084,983 (GRCm38)	missense	probably benign	0.03
R0927:Spg11	UTSW	2	122,094,487 (GRCm38)	missense	probably damaging	0.99
R1163:Spg11	UTSW	2	122,070,941 (GRCm38)	missense	probably damaging	1.00
R1534:Spg11	UTSW	2	122,092,325 (GRCm38)	missense	probably damaging	1.00
R1555:Spg11	UTSW	2	122,097,377 (GRCm38)	missense	probably damaging	0.99
R1569:Spg11	UTSW	2	122,101,706 (GRCm38)	missense	probably damaging	0.99
R1840:Spg11	UTSW	2	122,101,756 (GRCm38)	missense	probably damaging	1.00
R1929:Spg11	UTSW	2	122,060,207 (GRCm38)	missense	probably damaging	1.00
R2265:Spg11	UTSW	2	122,108,307 (GRCm38)	missense	possibly damaging	0.48
R2303:Spg11	UTSW	2	122,068,837 (GRCm38)	missense	probably damaging	0.99
R2510:Spg11	UTSW	2	122,075,310 (GRCm38)	missense	probably benign	0.03
R2760:Spg11	UTSW	2	122,097,359 (GRCm38)	missense	probably damaging	0.99
R2918:Spg11	UTSW	2	122,075,301 (GRCm38)	missense	probably damaging	0.99
R3195:Spg11	UTSW	2	122,083,398 (GRCm38)	critical splice donor site	probably null
R3423:Spg11	UTSW	2	122,071,053 (GRCm38)	missense	probably benign	0.00
R4353:Spg11	UTSW	2	122,113,194 (GRCm38)	missense	possibly damaging	0.92
R4407:Spg11	UTSW	2	122,075,332 (GRCm38)	missense	probably benign	0.00
R4644:Spg11	UTSW	2	122,061,029 (GRCm38)	missense	probably benign	0.03
R4663:Spg11	UTSW	2	122,098,099 (GRCm38)	critical splice donor site	probably null
R4684:Spg11	UTSW	2	122,065,076 (GRCm38)	missense	probably damaging	1.00
R4771:Spg11	UTSW	2	122,065,482 (GRCm38)	nonsense	probably null
R4810:Spg11	UTSW	2	122,059,796 (GRCm38)	missense	probably damaging	1.00
R4829:Spg11	UTSW	2	122,108,455 (GRCm38)	missense	probably benign	0.44
R5089:Spg11	UTSW	2	122,114,717 (GRCm38)	nonsense	probably null
R5362:Spg11	UTSW	2	122,061,000 (GRCm38)	missense	probably damaging	0.99
R5684:Spg11	UTSW	2	122,093,503 (GRCm38)	missense	probably damaging	1.00
R5899:Spg11	UTSW	2	122,098,199 (GRCm38)	missense	possibly damaging	0.67
R5923:Spg11	UTSW	2	122,093,478 (GRCm38)	missense	probably damaging	0.98
R6052:Spg11	UTSW	2	122,097,356 (GRCm38)	missense	probably damaging	0.99
R6111:Spg11	UTSW	2	122,093,482 (GRCm38)	missense	probably damaging	0.98
R6174:Spg11	UTSW	2	122,086,805 (GRCm38)	splice site	probably null
R6226:Spg11	UTSW	2	122,088,262 (GRCm38)	missense	possibly damaging	0.69
R6336:Spg11	UTSW	2	122,112,959 (GRCm38)	splice site	probably null
R6480:Spg11	UTSW	2	122,092,305 (GRCm38)	missense	probably benign	0.03
R6494:Spg11	UTSW	2	122,113,225 (GRCm38)	missense	probably damaging	0.98
R6582:Spg11	UTSW	2	122,092,292 (GRCm38)	missense	probably damaging	0.99
R6714:Spg11	UTSW	2	122,095,731 (GRCm38)	missense	probably damaging	0.99
R6791:Spg11	UTSW	2	122,093,443 (GRCm38)	missense	probably damaging	0.99
R6836:Spg11	UTSW	2	122,059,535 (GRCm38)	missense	probably damaging	1.00
R6928:Spg11	UTSW	2	122,069,904 (GRCm38)	missense	probably benign	0.37
R7179:Spg11	UTSW	2	122,101,789 (GRCm38)	splice site	probably null
R7229:Spg11	UTSW	2	122,108,104 (GRCm38)	missense	probably damaging	0.98
R7337:Spg11	UTSW	2	122,084,993 (GRCm38)	missense	probably benign	0.09
R7338:Spg11	UTSW	2	122,055,377 (GRCm38)	missense	probably damaging	1.00
R7351:Spg11	UTSW	2	122,069,931 (GRCm38)	missense	possibly damaging	0.95
R7378:Spg11	UTSW	2	122,058,429 (GRCm38)	missense	probably damaging	1.00
R7448:Spg11	UTSW	2	122,093,545 (GRCm38)	critical splice acceptor site	probably null
R7505:Spg11	UTSW	2	122,075,351 (GRCm38)	nonsense	probably null
R7665:Spg11	UTSW	2	122,066,267 (GRCm38)	missense	probably damaging	0.99
R7685:Spg11	UTSW	2	122,068,880 (GRCm38)	missense	probably damaging	0.99
R7779:Spg11	UTSW	2	122,070,939 (GRCm38)	missense	probably damaging	1.00
R7947:Spg11	UTSW	2	122,092,322 (GRCm38)	missense	probably damaging	1.00
R7958:Spg11	UTSW	2	122,092,945 (GRCm38)	splice site	probably null
R8024:Spg11	UTSW	2	122,097,321 (GRCm38)	missense	possibly damaging	0.67
R8033:Spg11	UTSW	2	122,086,951 (GRCm38)	missense	probably damaging	1.00
R8069:Spg11	UTSW	2	122,113,156 (GRCm38)	missense	probably benign
R8121:Spg11	UTSW	2	122,069,867 (GRCm38)	critical splice donor site	probably null
R8252:Spg11	UTSW	2	122,088,339 (GRCm38)	splice site	probably benign
R8358:Spg11	UTSW	2	122,080,258 (GRCm38)	missense	possibly damaging	0.69
R8362:Spg11	UTSW	2	122,118,361 (GRCm38)	missense	unknown
R8385:Spg11	UTSW	2	122,097,321 (GRCm38)	missense	probably benign	0.22
R8406:Spg11	UTSW	2	122,093,442 (GRCm38)	missense	probably damaging	0.99
R8810:Spg11	UTSW	2	122,070,944 (GRCm38)	missense	probably damaging	0.98
R8883:Spg11	UTSW	2	122,113,080 (GRCm38)	missense	probably damaging	1.00
R8968:Spg11	UTSW	2	122,092,206 (GRCm38)	missense	probably damaging	0.99
R9008:Spg11	UTSW	2	122,069,932 (GRCm38)	missense	probably benign	0.05
R9059:Spg11	UTSW	2	122,088,307 (GRCm38)	missense	probably damaging	0.99
R9296:Spg11	UTSW	2	122,114,694 (GRCm38)	missense	probably benign	0.34
R9333:Spg11	UTSW	2	122,101,763 (GRCm38)	missense	probably damaging	0.99
R9657:Spg11	UTSW	2	122,080,300 (GRCm38)	missense	probably damaging	1.00
R9774:Spg11	UTSW	2	122,108,484 (GRCm38)	missense	probably damaging	0.99
Z1177:Spg11	UTSW	2	122,072,985 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAATCTAACCACTCTCCCTTCGC -3'
(R):5'- GTCACATTTACCAACTGTGAAATTGTG -3'

Sequencing Primer
(F):5'- GCTCTAGTTCCCCCAACTGAG -3'
(R):5'- CCAACTGTGAAATTGTGATCAGTG -3'

Posted On

2021-01-18