Mutagenetix > Incidental Mutation

Incidental Mutation 'R9695:Spart'

729203

Institutional Source

Beutler Lab

Gene Symbol

Spart

Ensembl Gene

ENSMUSG00000036580

Gene Name

spartin

Synonyms

TAHCCP1, Spg20

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

R9695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55019529-55044743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55033955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 394 (T394A)

Ref Sequence

ENSEMBL: ENSMUSP00000042367 (fasta)

Gene Model

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

AlphaFold

Q8R1X6

Predicted Effect

probably benign
Transcript: ENSMUST00000044116
AA Change: T394A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: T394A

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: T337A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
AA Change: T337A

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: T394A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: T394A

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: T394A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: T394A

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,170,739 (GRCm39)	T1A		Het
Adgrl1	G	A	8: 84,665,060 (GRCm39)	R1249Q	probably damaging	Het
Apeh	G	A	9: 107,963,483 (GRCm39)	R580C	probably damaging	Het
Armc12	T	A	17: 28,749,993 (GRCm39)	C46S	probably benign	Het
Avpr1a	C	T	10: 122,284,845 (GRCm39)	R46C	probably damaging	Het
Cbln4	C	G	2: 171,879,469 (GRCm39)	G140R	probably damaging	Het
Ccdc89	A	G	7: 90,076,552 (GRCm39)	N254S	probably benign	Het
Cd96	T	A	16: 45,919,410 (GRCm39)	I204F	probably damaging	Het
Cel	G	T	2: 28,450,961 (GRCm39)	L101I	probably damaging	Het
Crtap	A	T	9: 114,215,378 (GRCm39)	Y170*	probably null	Het
Ctxn3	A	G	18: 57,610,185 (GRCm39)	M1V	probably null	Het
Cwf19l1	G	T	19: 44,101,425 (GRCm39)	H478N	probably damaging	Het
Dpysl3	A	T	18: 43,571,192 (GRCm39)	D27E	probably damaging	Het
Dsg1b	A	G	18: 20,532,389 (GRCm39)	T478A	probably damaging	Het
Dvl2	G	A	11: 69,899,976 (GRCm39)	R590Q	possibly damaging	Het
Elovl7	C	A	13: 108,416,242 (GRCm39)	Q211K	probably damaging	Het
Fech	A	G	18: 64,600,803 (GRCm39)	I233T	probably damaging	Het
Fsip2	A	T	2: 82,806,226 (GRCm39)	Q848H	probably benign	Het
Gna15	A	G	10: 81,359,752 (GRCm39)	C13R	probably damaging	Het
Gstt4	A	T	10: 75,657,072 (GRCm39)	S65T	probably benign	Het
Heatr1	T	C	13: 12,438,624 (GRCm39)	V1353A	probably damaging	Het
Hip1r	A	T	5: 124,139,916 (GRCm39)	K1006N	possibly damaging	Het
Hspg2	T	A	4: 137,265,701 (GRCm39)	V1804E	probably damaging	Het
Ifi206	T	C	1: 173,301,249 (GRCm39)	T810A	unknown	Het
Ighv1-69	T	C	12: 115,586,987 (GRCm39)	T49A	probably benign	Het
Il4i1	A	T	7: 44,489,033 (GRCm39)	D266V	probably damaging	Het
Itga3	A	T	11: 94,946,520 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,378,311 (GRCm39)	N1279S	probably damaging	Het
Madd	T	C	2: 90,992,929 (GRCm39)	T997A	probably benign	Het
Mal	C	T	2: 127,482,308 (GRCm39)	V32I	probably benign	Het
Map9	T	A	3: 82,284,292 (GRCm39)	S289T	probably benign	Het
Mmp15	G	T	8: 96,097,414 (GRCm39)	R461L	possibly damaging	Het
Nelfcd	T	A	2: 174,266,923 (GRCm39)	I395N	probably benign	Het
Neurog2	T	A	3: 127,427,694 (GRCm39)	V106E	probably damaging	Het
Nup160	T	A	2: 90,538,486 (GRCm39)	N761K	probably damaging	Het
Oasl1	G	A	5: 115,074,054 (GRCm39)	R321Q	probably damaging	Het
Oosp2	T	C	19: 11,628,994 (GRCm39)	T36A		Het
Or2a52	A	T	6: 43,144,510 (GRCm39)	I173L	probably benign	Het
Or7g22	A	G	9: 19,049,171 (GRCm39)	N294S	probably damaging	Het
Or8k30	T	C	2: 86,339,100 (GRCm39)	V99A	probably benign	Het
Or9s27	A	G	1: 92,516,595 (GRCm39)	D181G	probably benign	Het
Otx2	T	G	14: 48,899,952 (GRCm39)	S16R	probably damaging	Het
Phactr2	A	G	10: 13,349,908 (GRCm39)	S39P	unknown	Het
Piwil2	A	G	14: 70,627,349 (GRCm39)	Y797H	possibly damaging	Het
Plxna4	T	G	6: 32,183,056 (GRCm39)	Y949S	probably benign	Het
Prss35	A	G	9: 86,637,761 (GRCm39)	Y177C	probably damaging	Het
Rbm19	T	C	5: 120,335,986 (GRCm39)	I934T	probably damaging	Het
Rictor	T	G	15: 6,816,010 (GRCm39)	V1094G	probably benign	Het
Riok1	A	G	13: 38,242,676 (GRCm39)	T467A	possibly damaging	Het
Slc15a4	G	A	5: 127,694,400 (GRCm39)	R12W	possibly damaging	Het
Slc44a5	T	A	3: 153,956,588 (GRCm39)	I280K	probably damaging	Het
Slc9c1	T	C	16: 45,368,026 (GRCm39)	L205S	probably benign	Het
Slco2a1	A	G	9: 102,962,139 (GRCm39)	R604G	possibly damaging	Het
Slmap	T	A	14: 26,183,496 (GRCm39)	T296S	probably damaging	Het
Snrk	T	C	9: 121,995,640 (GRCm39)	V473A	probably benign	Het
Stil	T	C	4: 114,881,378 (GRCm39)	S641P	probably damaging	Het
Syne1	A	G	10: 5,268,461 (GRCm39)	V2076A	probably benign	Het
Tcirg1	G	A	19: 3,952,360 (GRCm39)	A336V	probably null	Het
Tespa1	T	C	10: 130,198,285 (GRCm39)	S436P	probably benign	Het
Thumpd3	G	T	6: 113,024,622 (GRCm39)	R72L	possibly damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Vars1	A	G	17: 35,231,564 (GRCm39)	D696G	possibly damaging	Het
Vwa5b2	A	T	16: 20,422,975 (GRCm39)	H991L	probably benign	Het
Zfp160	A	G	17: 21,245,746 (GRCm39)	K99E	possibly damaging	Het
Zfp759	G	A	13: 67,287,198 (GRCm39)	V250I	possibly damaging	Het
Zmym6	T	C	4: 127,016,340 (GRCm39)	V707A	probably benign	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
R1506:Spart	UTSW	3	55,024,992 (GRCm39)	missense	probably damaging	0.99
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
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'- CGGGAGCTTGATTGTGACTCAG -3'
(R):5'- TGTCACTGGTTCAAGGTCTG -3'

Sequencing Primer
(F):5'- TGGAGTCACAGTTCTACTCAGAGC -3'
(R):5'- CACTGGTTCAAGGTCTGACACTG -3'

Posted On

2022-10-06