Mutagenetix > Incidental Mutation

Incidental Mutation 'R5869:Spart'

454314

Institutional Source

Beutler Lab

Gene Symbol

Spart

Ensembl Gene

ENSMUSG00000036580

Gene Name

spartin

Synonyms

TAHCCP1, Spg20

MMRRC Submission

044077-MU

Accession Numbers

Essential gene?

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

Stock #

R5869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55019529-55044743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55042931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 616 (M616L)

Ref Sequence

ENSEMBL: ENSMUSP00000113621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044116] [ENSMUST00000052904] [ENSMUST00000061099] [ENSMUST00000107971] [ENSMUST00000118118] [ENSMUST00000118963] [ENSMUST00000153009]

AlphaFold

Q8R1X6

Predicted Effect

probably benign
Transcript: ENSMUST00000044116
AA Change: M616L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: M616L

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: ENSMUST00000052904

SMART Domains

Protein: ENSMUSP00000049698
Gene: ENSMUSG00000048655

Domain	Start	End	E-Value	Type
Pfam:DUF4600	1	100	2e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061099

SMART Domains

Protein: ENSMUSP00000054771
Gene: ENSMUSG00000048655

Domain	Start	End	E-Value	Type
Pfam:DUF4600	54	181	1.8e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107971
AA Change: M559L

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

SMART Domains

Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
AA Change: M559L

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: ENSMUST00000118118
AA Change: M616L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: M616L

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: ENSMUST00000118963

SMART Domains

Protein: ENSMUSP00000112414
Gene: ENSMUSG00000048655

Domain	Start	End	E-Value	Type
Pfam:DUF4600	53	182	1.2e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153009

Meta Mutation Damage Score

0.0622

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

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
Adarb1	T	C	10: 77,161,450 (GRCm39)		probably benign	Het
Arsk	T	C	13: 76,239,903 (GRCm39)	E100G	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Aspscr1	T	C	11: 120,579,746 (GRCm39)	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,939 (GRCm39)		probably benign	Het
Calm5	T	A	13: 3,904,321 (GRCm39)		probably benign	Het
Car5a	G	A	8: 122,643,119 (GRCm39)	T295I	probably benign	Het
Ccdc174	T	A	6: 91,862,399 (GRCm39)		probably benign	Het
Celsr2	G	A	3: 108,321,225 (GRCm39)	A529V	probably damaging	Het
Cep192	A	G	18: 67,948,935 (GRCm39)	D252G	probably benign	Het
Clcnka	A	G	4: 141,122,276 (GRCm39)	F217L	probably benign	Het
Cnot3	A	T	7: 3,647,929 (GRCm39)		probably benign	Het
Coro1c	A	G	5: 113,988,907 (GRCm39)		probably benign	Het
Cstf3	A	G	2: 104,489,585 (GRCm39)		probably null	Het
Dcdc2a	C	T	13: 25,291,713 (GRCm39)	P233S	probably benign	Het
Ddx55	A	G	5: 124,706,745 (GRCm39)	T581A	probably benign	Het
Exo1	T	C	1: 175,728,849 (GRCm39)	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,068,511 (GRCm39)	E616G	possibly damaging	Het
Fignl2	T	C	15: 100,951,161 (GRCm39)	S374G	unknown	Het
Gm4799	A	T	10: 82,790,283 (GRCm39)		noncoding transcript	Het
Hectd4	T	C	5: 121,481,288 (GRCm39)		probably null	Het
Ighv1-76	T	C	12: 115,811,658 (GRCm39)	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,234,531 (GRCm39)	H465Q	probably benign	Het
Itga9	A	G	9: 118,492,957 (GRCm39)	D284G	probably damaging	Het
Itpr1	T	C	6: 108,450,490 (GRCm39)	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,029,991 (GRCm39)	S185P	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Krt1	A	T	15: 101,758,566 (GRCm39)	F199L	probably damaging	Het
Lpin2	A	G	17: 71,539,271 (GRCm39)		probably benign	Het
Lrp1b	A	C	2: 40,894,615 (GRCm39)	D2204E	probably damaging	Het
Mier3	T	A	13: 111,851,384 (GRCm39)	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446 (GRCm39)		probably benign	Het
Mroh3	T	A	1: 136,113,861 (GRCm39)	M643L	probably benign	Het
Myh11	A	G	16: 14,048,664 (GRCm39)	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,785,505 (GRCm39)	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,438,960 (GRCm39)	R179Q	probably damaging	Het
Nup88	T	C	11: 70,860,497 (GRCm39)	E94G	probably benign	Het
Pias1	A	T	9: 62,820,048 (GRCm39)	D306E	probably benign	Het
Pick1	A	G	15: 79,133,095 (GRCm39)	D385G	probably benign	Het
Pitx3	A	T	19: 46,125,735 (GRCm39)		probably benign	Het
Plpp3	T	A	4: 105,052,159 (GRCm39)		probably null	Het
Prlhr	C	A	19: 60,456,059 (GRCm39)	R169L	probably damaging	Het
Ptprf	A	C	4: 118,067,579 (GRCm39)	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,604,939 (GRCm39)	D35G	probably benign	Het
Rnf130	A	G	11: 49,976,642 (GRCm39)		probably null	Het
Rnf17	A	C	14: 56,743,445 (GRCm39)	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,742,708 (GRCm39)	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,388,943 (GRCm39)	T269I	probably damaging	Het
Slc4a11	A	C	2: 130,526,379 (GRCm39)	V855G	probably benign	Het
Slc5a5	C	A	8: 71,344,974 (GRCm39)	R111L	probably damaging	Het
Tmem229a	T	C	6: 24,954,686 (GRCm39)	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,086,925 (GRCm39)	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 155,011,055 (GRCm39)		probably null	Het
Tnfrsf19	C	T	14: 61,208,627 (GRCm39)	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,787,858 (GRCm39)	K809E	probably benign	Het
Ttn	G	A	2: 76,580,553 (GRCm39)	P23447S	probably damaging	Het
Uap1	T	A	1: 169,978,707 (GRCm39)		probably null	Het
Wdr82	A	G	9: 106,062,503 (GRCm39)	Q252R	probably benign	Het
Zfp523	T	C	17: 28,413,967 (GRCm39)	I34T	probably benign	Het
Zfp808	T	A	13: 62,319,069 (GRCm39)	H99Q	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
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
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'- GTTTTGCTTTCAAGAAATGGCACAG -3'
(R):5'- AGGTGACTCCCAGGATTCTC -3'

Sequencing Primer
(F):5'- TGGCACAGACATCATATAACTTATCC -3'
(R):5'- GTGACTCCCAGGATTCTCATTATTTG -3'

Posted On

2017-02-10