Mutagenetix > Incidental Mutation

Incidental Mutation 'R9172:Spg20'

696451

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

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R9172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55112108-55137322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55124846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 367 (V367D)

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: V367D

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: V367D

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 benign
Transcript: ENSMUST00000107971

SMART Domains

Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580

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: V367D

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: V367D

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: V367D

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: V367D

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

0.1712

Coding Region Coverage

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

Validation Efficiency

100% (63/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	C	7: 127,385,454	K159E	probably benign	Het
Accsl	A	T	2: 93,861,488	L332Q	probably damaging	Het
Adcy1	A	G	11: 7,160,317	N855D	probably damaging	Het
Adgrl3	T	A	5: 81,774,404	C1199S	probably benign	Het
Alyref	G	A	11: 120,596,016	R140C	probably benign	Het
Arhgap26	A	T	18: 39,245,329	I92F	probably damaging	Het
Atp9b	G	A	18: 80,917,778	R73*	probably null	Het
Btaf1	G	A	19: 37,000,230	A1483T	probably damaging	Het
Casc1	A	G	6: 145,177,449	F564L	probably benign	Het
Cmtr2	T	C	8: 110,222,129	L357P	probably damaging	Het
Commd7	A	T	2: 153,628,554	L51Q	possibly damaging	Het
Cpd	T	A	11: 76,784,426	I1290L	probably benign	Het
Cry2	C	A	2: 92,413,648	E393D	probably damaging	Het
Ctsm	A	T	13: 61,537,829	M74K		Het
Dync2h1	T	C	9: 7,031,771	Y3491C	probably damaging	Het
Erc1	A	C	6: 119,824,881	N58K	possibly damaging	Het
Fbxw21	T	C	9: 109,146,696	T211A	probably benign	Het
Fry	T	C	5: 150,413,328	V1388A	probably benign	Het
Fuk	A	G	8: 110,883,925	W949R	probably damaging	Het
Gca	T	G	2: 62,690,024	I176S	probably damaging	Het
Gimap7	A	T	6: 48,723,827	K116*	probably null	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,710		probably benign	Het
Gm5415	G	T	1: 32,546,084	H248Q	probably benign	Het
Gm906	A	G	13: 50,247,381	F303S	probably benign	Het
Gm9195	A	C	14: 72,473,714	L428R	probably damaging	Het
Grin2b	A	G	6: 135,779,257	I490T	possibly damaging	Het
Kif24	T	C	4: 41,400,442	T499A	probably benign	Het
Mbtps1	G	A	8: 119,533,369	T413I	probably damaging	Het
Med4	A	T	14: 73,513,925	S105C	probably benign	Het
Mgat1	G	A	11: 49,261,083	R131Q	probably damaging	Het
Mroh4	T	C	15: 74,606,112	*984W	probably null	Het
Mybpc1	T	C	10: 88,543,753	E628G	possibly damaging	Het
Myh8	C	T	11: 67,292,434	P713L	possibly damaging	Het
Myo7a	T	C	7: 98,083,162	D706G	probably benign	Het
Nbas	T	A	12: 13,374,750	C997S	possibly damaging	Het
Nkx2-1	C	A	12: 56,534,967	G32C	probably damaging	Het
Npas3	A	G	12: 54,065,870	T466A	probably benign	Het
Olfr1085	T	A	2: 86,657,535	I308L	probably benign	Het
Olfr487	T	C	7: 108,211,962	E189G	probably benign	Het
Opa1	C	T	16: 29,620,414	R683C	probably benign	Het
Opa3	C	T	7: 19,255,541	R110C	probably damaging	Het
Ppfibp2	T	A	7: 107,738,318	L609*	probably null	Het
Pygo2	T	A	3: 89,433,310	D338E	possibly damaging	Het
Pzp	A	T	6: 128,525,209	M59K	probably benign	Het
Reln	A	G	5: 21,950,817		probably null	Het
Ripor1	A	G	8: 105,621,201	D1097G	unknown	Het
Rmdn3	T	C	2: 119,138,382	K443E	probably benign	Het
Rnf145	A	G	11: 44,557,435	D373G	possibly damaging	Het
Sec23b	A	T	2: 144,559,259	E13D	probably benign	Het
Slc39a6	A	G	18: 24,582,342	F707S	probably damaging	Het
Sox11	G	A	12: 27,341,537	A291V	possibly damaging	Het
Strap	A	T	6: 137,741,367	K156N	probably benign	Het
Stxbp5	T	A	10: 9,769,408	I951F	possibly damaging	Het
Taar7a	T	C	10: 23,992,779	I235V	probably benign	Het
Tek	T	A	4: 94,804,346	N230K	probably benign	Het
Tyw1	T	A	5: 130,296,679	C469*	probably null	Het
Vcan	T	C	13: 89,679,931	H3132R	probably damaging	Het
Vmn2r24	A	G	6: 123,806,473	D544G	probably damaging	Het
Vmn2r3	A	T	3: 64,278,982	M94K	possibly damaging	Het
Vps33a	T	C	5: 123,536,541	T388A	probably benign	Het
Vta1	A	G	10: 14,675,999	I152T	probably damaging	Het
Vtcn1	A	G	3: 100,892,549	D242G	probably benign	Het
Zfp12	T	A	5: 143,245,465	C548S	probably damaging	Het
Zfp263	A	G	16: 3,749,459	D546G	probably benign	Het
Zfp324	T	A	7: 12,970,762	C293S	probably damaging	Het
Zscan4c	A	T	7: 11,009,892	I473F	possibly damaging	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
R8929:Spg20	UTSW	3	55128558	missense	possibly damaging	0.96
R9060:Spg20	UTSW	3	55124854	missense	probably benign	0.02
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'- TCAGACACACTGGCATCTGAAC -3'
(R):5'- AAGCAGTTTGAGCACAAATGTG -3'

Sequencing Primer
(F):5'- CACTGGCATCTGAACATGTG -3'
(R):5'- ACAAATGTGTGGTGACCCTAG -3'

Posted On

2022-02-07