Mutagenetix > Incidental Mutations

Incidental Mutation 'R8005:Spg20'

616555

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?

Possibly non essential (E-score: 0.275) question?

Stock #

R8005 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55112108-55137322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55117352 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 123 (C123S)

Ref Sequence

ENSEMBL: ENSMUSP00000042367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044116] [ENSMUST00000107971] [ENSMUST00000117341] [ENSMUST00000118118] [ENSMUST00000146109] [ENSMUST00000149767]

Predicted Effect

probably benign
Transcript: ENSMUST00000044116
AA Change: C123S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: C123S

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
AA Change: C123S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
AA Change: C123S

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

probably benign
Transcript: ENSMUST00000117341
AA Change: C123S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: C123S

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

probably benign
Transcript: ENSMUST00000118118
AA Change: C123S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: C123S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146109

SMART Domains

Protein: ENSMUSP00000121683
Gene: ENSMUSG00000036580

Domain	Start	End	E-Value	Type
MIT	16	94	4.64e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149767

SMART Domains

Protein: ENSMUSP00000119719
Gene: ENSMUSG00000036580

Domain	Start	End	E-Value	Type
MIT	16	92	6.83e-16	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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
Acot1	A	G	12: 84,017,000	D294G	probably benign	Het
Ak8	A	T	2: 28,712,302	S83C	probably benign	Het
Ankrd34b	C	A	13: 92,438,722	A154E	possibly damaging	Het
Anks1	A	G	17: 28,059,367	D1175G	probably damaging	Het
Ano4	T	A	10: 88,971,321	L799F	probably benign	Het
Aplp1	T	C	7: 30,436,045		probably null	Het
Apob	A	T	12: 8,009,744	H2742L	probably benign	Het
Apol7e	C	T	15: 77,718,077	Q292*	probably null	Het
Atp2b1	G	A	10: 98,994,799	G374D	probably damaging	Het
B020004J07Rik	A	G	4: 101,837,251	V145A	probably damaging	Het
B4galt5	A	G	2: 167,301,464	S347P	probably damaging	Het
Bcl11b	T	C	12: 107,916,197	T620A	probably benign	Het
Bco2	T	A	9: 50,538,913	D329V	probably damaging	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Copg2	T	A	6: 30,896,697	M1L	possibly damaging	Het
D430041D05Rik	G	A	2: 104,258,254	H164Y	possibly damaging	Het
Dscaml1	G	T	9: 45,717,510	G1121C	probably damaging	Het
Fam208b	C	T	13: 3,575,681	S1423N	probably benign	Het
Gas2l1	A	T	11: 5,061,552	S426T	probably benign	Het
Gm17783	T	C	16: 45,532,037		probably benign	Het
Gm9195	T	A	14: 72,426,400	I2740F	probably benign	Het
Irgm1	A	G	11: 48,866,390	I214T	probably damaging	Het
Kbtbd3	C	T	9: 4,330,655	T343I	probably damaging	Het
Ldlrad1	G	A	4: 107,209,491	A8T	probably benign	Het
Ly75	A	T	2: 60,332,934	Y804N	probably damaging	Het
Mgat2	A	G	12: 69,185,948	H432R	probably damaging	Het
Nsrp1	A	T	11: 77,045,786	M528K	probably damaging	Het
Nup54	T	C	5: 92,428,147	I162V	probably benign	Het
Obsl1	T	A	1: 75,505,452	N258I	probably damaging	Het
Olfr10	G	T	11: 49,318,141	M198I	probably benign	Het
Olfr350	A	G	2: 36,850,144	T33A	probably benign	Het
Olfr478	T	C	7: 108,032,263	R27G	possibly damaging	Het
Olfr498	T	C	7: 108,465,486	V54A	probably benign	Het
Pax2	G	A	19: 44,760,889	V20M	probably damaging	Het
Pigb	A	T	9: 73,015,264	M13K	unknown	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Pik3c2a	T	C	7: 116,418,036	Y162C	probably damaging	Het
Pik3c2g	A	T	6: 139,622,069	D61V	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Prss46	A	G	9: 110,856,076	D256G	probably benign	Het
Rims1	G	T	1: 22,412,213	D196E		Het
Sbf1	A	G	15: 89,294,205	L1498P	probably damaging	Het
Sh2b1	T	C	7: 126,469,307	D444G	possibly damaging	Het
Slc7a15	T	G	12: 8,539,395	M51L	probably damaging	Het
Slitrk1	T	C	14: 108,913,265	I5V	probably benign	Het
Sry	C	T	Y: 2,663,303	R119K	possibly damaging	Het
Tbcc	T	C	17: 46,890,760	V24A	possibly damaging	Het
Tfap2a	T	A	13: 40,719,208	M331L	possibly damaging	Het
Thnsl1	A	G	2: 21,211,944	I170V	probably benign	Het
Ticrr	T	G	7: 79,694,048	S1220R	probably damaging	Het
Tmem262	T	C	19: 6,080,477	M77T	possibly damaging	Het
Tmem67	A	G	4: 12,047,821	S771P	probably damaging	Het
Tsc2	G	A	17: 24,599,596	A1423V	probably damaging	Het
Ubr4	T	A	4: 139,412,630	Y1175N	probably damaging	Het
Usp25	G	A	16: 77,077,068	A511T	probably benign	Het
Vmn2r115	T	A	17: 23,344,150	Y58*	probably null	Het
Wt1	T	C	2: 105,127,444		probably null	Het
Zfp735	A	T	11: 73,712,314	K695*	probably null	Het
Zkscan14	A	G	5: 145,195,758	F321S	possibly damaging	Het
Zswim9	T	C	7: 13,261,138	E364G	probably 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
R8458:Spg20	UTSW	3	55124894	missense	probably damaging	1.00
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'- TGCTTAGGGGCATCAGCATC -3'
(R):5'- CATAGGAAACAGTGTAGTGGCCC -3'

Sequencing Primer
(F):5'- GCATCGCGGCTGCAGAG -3'
(R):5'- AAACAGTGTAGTGGCCCTCAGC -3'

Posted On

2020-01-23