Mutagenetix > Incidental Mutation

Incidental Mutation 'R8929:Spg20'

679725

Institutional Source

Beutler Lab

Gene Symbol

Spg20

Ensembl Gene

ENSMUSG00000036580

Gene Name

spastic paraplegia 20, spartin (Troyer syndrome) homolog (human)

Synonyms

TAHCCP1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R8929 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55112108-55137322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55128558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 572 (S572P)

Ref Sequence

ENSEMBL: ENSMUSP00000042367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044116] [ENSMUST00000107971] [ENSMUST00000117341] [ENSMUST00000118118]

AlphaFold

Q8R1X6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044116
AA Change: S572P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: S572P

Domain	Start	End	E-Value	Type
MIT	16	94	4.64e-18	SMART
SCOP:d1bw0a_	158	254	8e-4	SMART
low complexity region	369	381	N/A	INTRINSIC
low complexity region	408	426	N/A	INTRINSIC
Pfam:Senescence	431	616	9.7e-52	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107971
AA Change: S515P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
AA Change: S515P

Domain	Start	End	E-Value	Type
MIT	16	94	4.64e-18	SMART
SCOP:d1bw0a_	158	254	9e-4	SMART
low complexity region	351	369	N/A	INTRINSIC
Pfam:Senescence	373	560	3.2e-56	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117341
AA Change: S572P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: S572P

Domain	Start	End	E-Value	Type
MIT	16	94	4.64e-18	SMART
SCOP:d1bw0a_	158	254	8e-4	SMART
low complexity region	369	381	N/A	INTRINSIC
low complexity region	408	426	N/A	INTRINSIC
Pfam:Senescence	430	582	9.3e-42	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118118
AA Change: S572P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: S572P

Domain	Start	End	E-Value	Type
MIT	16	94	4.64e-18	SMART
SCOP:d1bw0a_	158	254	8e-4	SMART
low complexity region	369	381	N/A	INTRINSIC
low complexity region	408	426	N/A	INTRINSIC
Pfam:Senescence	430	617	3.8e-56	PFAM

Meta Mutation Damage Score

0.4877

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (61/61)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired lipid droplet amintenance, cytokinesis and impaired motor coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	A	G	2: 180,172,937	K99E	unknown	Het
Agxt2	C	A	15: 10,393,744	L375I	probably benign	Het
Akap13	T	C	7: 75,609,004	S459P	probably benign	Het
Arfgef3	T	A	10: 18,603,455	T1471S	probably damaging	Het
Atxn2l	C	G	7: 126,493,756		probably benign	Het
Azi2	C	A	9: 118,049,976	T141K	probably damaging	Het
B4galt6	A	G	18: 20,688,365	S369P	possibly damaging	Het
BC051019	C	T	7: 109,716,026	E341K	probably damaging	Het
Bdh1	G	A	16: 31,456,894	D278N	probably benign	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 106,666,238		probably benign	Het
Cdipt	T	G	7: 126,979,653	D205E	probably damaging	Het
Clec4b1	G	T	6: 123,069,769		probably null	Het
Clip4	T	C	17: 71,831,208	L467S	probably damaging	Het
Cndp2	A	G	18: 84,675,173	I154T	probably benign	Het
Cyp2j5	T	C	4: 96,658,740	N179S	possibly damaging	Het
Dpf1	A	T	7: 29,309,749	I100F	probably benign	Het
Dppa5a	A	G	9: 78,367,883	S46P	probably benign	Het
Epyc	A	G	10: 97,675,745	D200G	probably benign	Het
Ern2	C	T	7: 122,170,140	A888T	probably benign	Het
Fndc3b	C	T	3: 27,542,104	S112N	probably damaging	Het
Fras1	T	C	5: 96,769,507	V3462A	probably damaging	Het
Fstl5	T	C	3: 76,707,831	I733T	probably damaging	Het
Gdf3	C	T	6: 122,609,797	R57Q		Het
Grwd1	A	T	7: 45,830,632	D50E	probably damaging	Het
Hgf	G	T	5: 16,593,990	D339Y	probably benign	Het
Kat7	T	C	11: 95,306,156	D19G	probably damaging	Het
Lefty1	A	G	1: 180,937,725	E286G	probably damaging	Het
Lrriq3	T	C	3: 155,188,182	F507L	probably damaging	Het
Mcm4	T	A	16: 15,630,425	T423S	probably benign	Het
Metap1	T	C	3: 138,468,882	K247E	probably benign	Het
Muc4	T	G	16: 32,753,994	I1290S	probably benign	Het
Muc4	A	T	16: 32,754,017	T1298S	possibly damaging	Het
Nars	G	T	18: 64,511,824	H82Q	probably benign	Het
Ncapg2	A	T	12: 116,452,363	E1121V	probably damaging	Het
Nebl	C	A	2: 17,393,180	E481*	probably null	Het
Pdap1	T	C	5: 145,132,862	E111G	probably damaging	Het
Pds5b	T	C	5: 150,719,914	F67S	probably damaging	Het
Pole	T	C	5: 110,297,788	F510S	probably damaging	Het
Ptpn21	A	T	12: 98,689,137	Y524N	probably damaging	Het
Ptpn4	A	T	1: 119,667,548	M887K	probably damaging	Het
Sec24b	T	C	3: 130,009,858	D414G	possibly damaging	Het
Sema5b	C	A	16: 35,647,367		probably benign	Het
Slain1	A	T	14: 103,685,728	T252S	probably damaging	Het
Slc36a3	A	G	11: 55,137,311	F164S	probably damaging	Het
Slc39a7	T	C	17: 34,030,990	H90R	unknown	Het
Slc44a4	A	T	17: 34,917,532	D58V	probably damaging	Het
Slc5a4a	A	G	10: 76,170,783	T340A	probably benign	Het
Sod2	C	A	17: 13,015,087	N195K	probably damaging	Het
Sytl2	C	T	7: 90,375,602	A266V	probably benign	Het
Tbx15	T	A	3: 99,314,903	D227E	probably damaging	Het
Tfap2a	A	G	13: 40,728,832	V26A	probably benign	Het
Trank1	T	A	9: 111,378,935	F1749L	possibly damaging	Het
Trpc6	A	G	9: 8,643,410		probably benign	Het
Ttn	A	T	2: 76,876,580	I9089N	unknown	Het
Unc13a	T	C	8: 71,651,191	T866A	probably benign	Het
Vmn1r212	T	A	13: 22,883,324	S280C	possibly damaging	Het
Vmn2r82	A	G	10: 79,396,707	T847A	probably benign	Het
Zcchc6	A	G	13: 59,800,128	V793A	probably benign	Het
Zer1	A	G	2: 30,110,869	L180P	probably damaging	Het
Zfp445	T	G	9: 122,853,667	Y403S	probably benign	Het

Other mutations in Spg20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Spg20	APN	3	55121756	missense	probably damaging	1.00
IGL01539:Spg20	APN	3	55117302	missense	possibly damaging	0.95
IGL01982:Spg20	APN	3	55128490	splice site	probably null
IGL02345:Spg20	APN	3	55117726	splice site	probably null
IGL03217:Spg20	APN	3	55128491	splice site	probably benign
IGL03344:Spg20	APN	3	55121685	missense	probably benign	0.03
BB007:Spg20	UTSW	3	55128276	missense	probably damaging	1.00
BB017:Spg20	UTSW	3	55128276	missense	probably damaging	1.00
R0145:Spg20	UTSW	3	55127671	nonsense	probably null
R0522:Spg20	UTSW	3	55128365	missense	probably damaging	1.00
R1506:Spg20	UTSW	3	55117571	missense	probably damaging	0.99
R2043:Spg20	UTSW	3	55127548	missense	probably damaging	1.00
R2183:Spg20	UTSW	3	55117133	missense	probably benign	0.43
R4022:Spg20	UTSW	3	55117736	missense	probably damaging	1.00
R5154:Spg20	UTSW	3	55117329	missense	probably damaging	1.00
R5869:Spg20	UTSW	3	55135510	missense	probably benign	0.00
R5987:Spg20	UTSW	3	55126541	missense	probably benign	0.00
R6142:Spg20	UTSW	3	55117248	missense	probably damaging	1.00
R6185:Spg20	UTSW	3	55117219	missense	probably damaging	1.00
R6652:Spg20	UTSW	3	55124827	missense	probably benign	0.00
R6791:Spg20	UTSW	3	55127561	missense	probably damaging	1.00
R7131:Spg20	UTSW	3	55121799	critical splice donor site	probably null
R7930:Spg20	UTSW	3	55128276	missense	probably damaging	1.00
R8005:Spg20	UTSW	3	55117352	missense	probably benign	0.00
R8458:Spg20	UTSW	3	55124894	missense	probably damaging	1.00
R8734:Spg20	UTSW	3	55124879	missense	possibly damaging	0.92
R8791:Spg20	UTSW	3	55121679	missense	probably benign	0.19
R9060:Spg20	UTSW	3	55124854	missense	probably benign	0.02
R9172:Spg20	UTSW	3	55124846	missense	possibly damaging	0.68
R9539:Spg20	UTSW	3	55127503	missense	probably damaging	1.00
R9695:Spg20	UTSW	3	55126534	missense	probably benign
RF009:Spg20	UTSW	3	55127606	missense	probably benign	0.00
X0018:Spg20	UTSW	3	55135499	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGCAGCGAGTAGTGTTCAAG -3'
(R):5'- CTCAGGAGTTCGGTCAGTAGAC -3'

Sequencing Primer
(F):5'- TGTTCAAGGTAACAAAAGGCCTG -3'
(R):5'- CGGTCAGTAGACTAAAAATGTTCCC -3'

Posted On

2021-08-02