Mutagenetix > Incidental Mutation

Incidental Mutation 'R1506:Spart'

167915

Institutional Source

Beutler Lab

Gene Symbol

Spart

Ensembl Gene

ENSMUSG00000036580

Gene Name

spartin

Synonyms

TAHCCP1, Spg20

MMRRC Submission

039554-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R1506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55019529-55044743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55024992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 196 (S196P)

Ref Sequence

ENSEMBL: ENSMUSP00000113968 (fasta)

Gene Model

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

AlphaFold

Q8R1X6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044116
AA Change: S196P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: S196P

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

possibly damaging
Transcript: ENSMUST00000107971
AA Change: S196P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
AA Change: S196P

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 damaging
Transcript: ENSMUST00000117341
AA Change: S196P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: S196P

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: S196P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: S196P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200658

Meta Mutation Damage Score

0.6141

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

98% (61/62)

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
Abcc3	G	T	11: 94,248,144 (GRCm39)	T1152K	possibly damaging	Het
Acp3	T	A	9: 104,201,373 (GRCm39)	T82S	probably damaging	Het
Adam23	C	T	1: 63,586,973 (GRCm39)	P445S	probably benign	Het
Ap3b1	T	A	13: 94,582,651 (GRCm39)		probably benign	Het
Artn	A	G	4: 117,784,058 (GRCm39)	V136A	probably damaging	Het
Ash1l	A	G	3: 88,965,806 (GRCm39)	T2403A	probably damaging	Het
Bbof1	G	T	12: 84,470,273 (GRCm39)	V120L	probably damaging	Het
Boc	A	G	16: 44,323,928 (GRCm39)	Y158H	probably damaging	Het
Casp8	A	G	1: 58,863,355 (GRCm39)	E105G	probably damaging	Het
Cers4	T	C	8: 4,570,557 (GRCm39)	F206L	probably benign	Het
Chrna9	A	G	5: 66,126,479 (GRCm39)	T78A	probably benign	Het
Creb3	A	T	4: 43,566,193 (GRCm39)	T263S	possibly damaging	Het
Cyp2c40	A	G	19: 39,766,443 (GRCm39)	V384A	probably damaging	Het
Dip2b	G	A	15: 100,080,994 (GRCm39)	V879M	probably damaging	Het
Dnah17	C	A	11: 118,016,213 (GRCm39)	V14F	possibly damaging	Het
Epb41l4b	T	A	4: 57,088,824 (GRCm39)	K144N	probably damaging	Het
Ercc6	A	T	14: 32,291,821 (GRCm39)	I1062F	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fat2	C	A	11: 55,175,090 (GRCm39)	E1874D	probably benign	Het
Fbxw21	T	A	9: 108,977,257 (GRCm39)	I151F	probably damaging	Het
Fhip2a	A	G	19: 57,357,007 (GRCm39)	I33V	probably benign	Het
Foxn1	A	G	11: 78,256,761 (GRCm39)		probably benign	Het
Gpr63	G	A	4: 25,008,227 (GRCm39)	R317H	probably damaging	Het
Grip1	C	A	10: 119,814,356 (GRCm39)	H296N	probably damaging	Het
Gtdc1	A	T	2: 44,465,506 (GRCm39)	M288K	possibly damaging	Het
Guf1	T	A	5: 69,724,509 (GRCm39)	D488E	possibly damaging	Het
Gvin3	C	T	7: 106,200,788 (GRCm39)	D819N	probably benign	Het
Heatr5b	C	A	17: 79,060,576 (GRCm39)	R2033L	probably damaging	Het
Hsd17b2	T	A	8: 118,429,004 (GRCm39)		probably null	Het
Ino80	A	T	2: 119,255,746 (GRCm39)	L913*	probably null	Het
Inppl1	A	C	7: 101,473,174 (GRCm39)	S1159A	probably benign	Het
Kcnk7	G	A	19: 5,756,140 (GRCm39)	C122Y	probably damaging	Het
Mtor	A	G	4: 148,620,962 (GRCm39)		probably benign	Het
Muc4	A	T	16: 32,574,033 (GRCm39)	S704C	possibly damaging	Het
Nckap5	A	T	1: 125,953,650 (GRCm39)	C967*	probably null	Het
Nek10	T	C	14: 14,999,078 (GRCm38)		probably benign	Het
Oas1h	A	T	5: 121,009,951 (GRCm39)	D342V	possibly damaging	Het
Or10j2	A	G	1: 173,098,336 (GRCm39)	N198S	probably benign	Het
Or2ak7	T	A	11: 58,575,014 (GRCm39)	L105Q	probably benign	Het
Or2n1	A	T	17: 38,486,091 (GRCm39)	M39L	probably benign	Het
Or4m1	A	G	14: 50,557,941 (GRCm39)	V117A	probably benign	Het
Or8b1b	T	C	9: 38,375,439 (GRCm39)	M34T	probably benign	Het
Prex1	A	T	2: 166,429,001 (GRCm39)	V694E	probably damaging	Het
Rad50	G	A	11: 53,570,312 (GRCm39)	A810V	probably damaging	Het
Rcor1	T	C	12: 111,076,271 (GRCm39)	S410P	probably damaging	Het
Rps14	A	T	18: 60,909,551 (GRCm39)	N26I	probably benign	Het
Slc38a1	T	C	15: 96,483,431 (GRCm39)	D299G	probably benign	Het
Slc5a1	T	A	5: 33,312,052 (GRCm39)	N481K	possibly damaging	Het
Slco3a1	A	T	7: 74,009,683 (GRCm39)		probably null	Het
Speg	A	G	1: 75,394,307 (GRCm39)	T1701A	probably benign	Het
Sugt1	A	G	14: 79,862,365 (GRCm39)	N271S	probably benign	Het
Tbx15	A	T	3: 99,259,228 (GRCm39)	L366F	possibly damaging	Het
Tnc	G	A	4: 63,925,921 (GRCm39)	T953I	possibly damaging	Het
Uqcc1	A	G	2: 155,753,738 (GRCm39)	S46P	probably damaging	Het
Vmn2r18	T	C	5: 151,499,099 (GRCm39)		probably null	Het
Vmn2r7	T	A	3: 64,614,500 (GRCm39)	Y438F	probably benign	Het
Vmn2r72	T	A	7: 85,398,419 (GRCm39)	K520N	probably benign	Het
Vps52	T	C	17: 34,176,868 (GRCm39)	L74P	probably damaging	Het
Xpo5	G	T	17: 46,538,814 (GRCm39)	M673I	probably benign	Het
Zscan18	A	G	7: 12,508,129 (GRCm39)	V457A	probably damaging	Het

Other mutations in Spart

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Spart	APN	3	55,029,177 (GRCm39)	missense	probably damaging	1.00
IGL01539:Spart	APN	3	55,024,723 (GRCm39)	missense	possibly damaging	0.95
IGL01982:Spart	APN	3	55,035,911 (GRCm39)	splice site	probably null
IGL02345:Spart	APN	3	55,025,147 (GRCm39)	splice site	probably null
IGL03217:Spart	APN	3	55,035,912 (GRCm39)	splice site	probably benign
IGL03344:Spart	APN	3	55,029,106 (GRCm39)	missense	probably benign	0.03
BB007:Spart	UTSW	3	55,035,697 (GRCm39)	missense	probably damaging	1.00
BB017:Spart	UTSW	3	55,035,697 (GRCm39)	missense	probably damaging	1.00
R0145:Spart	UTSW	3	55,035,092 (GRCm39)	nonsense	probably null
R0522:Spart	UTSW	3	55,035,786 (GRCm39)	missense	probably damaging	1.00
R2043:Spart	UTSW	3	55,034,969 (GRCm39)	missense	probably damaging	1.00
R2183:Spart	UTSW	3	55,024,554 (GRCm39)	missense	probably benign	0.43
R4022:Spart	UTSW	3	55,025,157 (GRCm39)	missense	probably damaging	1.00
R5154:Spart	UTSW	3	55,024,750 (GRCm39)	missense	probably damaging	1.00
R5869:Spart	UTSW	3	55,042,931 (GRCm39)	missense	probably benign	0.00
R5987:Spart	UTSW	3	55,033,962 (GRCm39)	missense	probably benign	0.00
R6142:Spart	UTSW	3	55,024,669 (GRCm39)	missense	probably damaging	1.00
R6185:Spart	UTSW	3	55,024,640 (GRCm39)	missense	probably damaging	1.00
R6652:Spart	UTSW	3	55,032,248 (GRCm39)	missense	probably benign	0.00
R6791:Spart	UTSW	3	55,034,982 (GRCm39)	missense	probably damaging	1.00
R7131:Spart	UTSW	3	55,029,220 (GRCm39)	critical splice donor site	probably null
R7930:Spart	UTSW	3	55,035,697 (GRCm39)	missense	probably damaging	1.00
R8005:Spart	UTSW	3	55,024,773 (GRCm39)	missense	probably benign	0.00
R8458:Spart	UTSW	3	55,032,315 (GRCm39)	missense	probably damaging	1.00
R8734:Spart	UTSW	3	55,032,300 (GRCm39)	missense	possibly damaging	0.92
R8791:Spart	UTSW	3	55,029,100 (GRCm39)	missense	probably benign	0.19
R8929:Spart	UTSW	3	55,035,979 (GRCm39)	missense	possibly damaging	0.96
R9060:Spart	UTSW	3	55,032,275 (GRCm39)	missense	probably benign	0.02
R9172:Spart	UTSW	3	55,032,267 (GRCm39)	missense	possibly damaging	0.68
R9539:Spart	UTSW	3	55,034,924 (GRCm39)	missense	probably damaging	1.00
R9695:Spart	UTSW	3	55,033,955 (GRCm39)	missense	probably benign
RF009:Spart	UTSW	3	55,035,027 (GRCm39)	missense	probably benign	0.00
X0018:Spart	UTSW	3	55,042,920 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCAAGCTATACCCAGAGTTCC -3'
(R):5'- GCACCCAGTAGAACCGTTGTTTCC -3'

Sequencing Primer
(F):5'- CAGGAGTCCGTTAGTACAGC -3'
(R):5'- CGGTTCAGAACTGTATCCAGAG -3'

Posted On

2014-04-13