Mutagenetix > Incidental Mutation

Incidental Mutation 'BB007:Spart'

642397

Institutional Source

Beutler Lab

Gene Symbol

Spart

Ensembl Gene

ENSMUSG00000036580

Gene Name

spartin

Synonyms

TAHCCP1, Spg20

Accession Numbers

Essential gene?

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

Stock #

BB007

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 55035697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 519 (K519E)

Ref Sequence

ENSEMBL: ENSMUSP00000042367 (fasta)

Gene Model

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

AlphaFold

Q8R1X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000044116
AA Change: K519E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: K519E

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: K462E

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
AA Change: K462E

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: K519E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: K519E

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 damaging
Transcript: ENSMUST00000118118
AA Change: K519E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: K519E

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: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	C	T	8: 41,250,107 (GRCm39)	T739I	probably benign	Het
Adam23	G	T	1: 63,624,586 (GRCm39)	V805F	possibly damaging	Het
Adamts17	A	T	7: 66,499,547 (GRCm39)	R31S	probably damaging	Het
Ano4	T	A	10: 89,163,138 (GRCm39)	Y27F	possibly damaging	Het
Bbs2	A	G	8: 94,796,625 (GRCm39)	V675A	probably damaging	Het
Brca2	A	G	5: 150,481,975 (GRCm39)	E2839G	probably damaging	Het
Capn5	C	T	7: 97,773,085 (GRCm39)	V640I	probably benign	Het
Casp4	C	T	9: 5,321,318 (GRCm39)	T23M	probably damaging	Het
Cerk	C	T	15: 86,028,920 (GRCm39)	E379K	possibly damaging	Het
Comp	G	A	8: 70,826,503 (GRCm39)	G26D	probably damaging	Het
Cpxm1	G	A	2: 130,236,982 (GRCm39)	A220V	possibly damaging	Het
Cyp2c69	G	T	19: 39,831,434 (GRCm39)	P460T	possibly damaging	Het
Ddx23	T	C	15: 98,546,504 (GRCm39)	D555G	probably damaging	Het
E2f6	T	A	12: 16,869,058 (GRCm39)	I127K	probably damaging	Het
Efr3a	T	A	15: 65,733,589 (GRCm39)	D716E	probably benign	Het
Esp16	T	G	17: 39,850,868 (GRCm39)	S82R	possibly damaging	Het
Fasn	A	C	11: 120,700,061 (GRCm39)	S2199A	probably benign	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Gas7	A	G	11: 67,556,217 (GRCm39)	I185M	probably damaging	Het
Glg1	A	T	8: 111,887,367 (GRCm39)	L1047I	possibly damaging	Het
Golga5	A	G	12: 102,450,681 (GRCm39)	N445D	probably benign	Het
Grin2c	A	T	11: 115,147,063 (GRCm39)	H377Q	probably benign	Het
Hmgcs1	T	C	13: 120,161,499 (GRCm39)	I97T	possibly damaging	Het
Ifi211	T	C	1: 173,733,769 (GRCm39)	T131A	possibly damaging	Het
Ifngr1	A	G	10: 19,484,931 (GRCm39)	K310R	probably damaging	Het
Il18rap	T	C	1: 40,587,803 (GRCm39)	V467A	probably damaging	Het
Itgad	C	A	7: 127,782,280 (GRCm39)	Q239K	probably benign	Het
Jrkl	T	C	9: 13,245,506 (GRCm39)	I52V	possibly damaging	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Krt75	C	A	15: 101,473,318 (GRCm39)	*552L	probably null	Het
Mbd2	A	G	18: 70,701,948 (GRCm39)	D154G	probably damaging	Het
Mutyh	A	T	4: 116,674,153 (GRCm39)	N235Y	probably benign	Het
Myo5b	A	G	18: 74,864,825 (GRCm39)	T1348A	probably benign	Het
Ndufs7	T	C	10: 80,089,619 (GRCm39)		probably null	Het
Nup205	T	G	6: 35,171,511 (GRCm39)	M458R	probably damaging	Het
Or1e32	A	C	11: 73,705,926 (GRCm39)		probably benign	Het
Or1j4	G	T	2: 36,740,285 (GRCm39)	V76F	probably damaging	Het
Or2at1	A	T	7: 99,416,803 (GRCm39)	T145S	probably benign	Het
Or5b119	G	A	19: 13,457,019 (GRCm39)	P181L	probably damaging	Het
Or6b2	T	A	1: 92,407,570 (GRCm39)	M258L	probably benign	Het
Or8b101	A	G	9: 38,020,264 (GRCm39)	N89S	possibly damaging	Het
Or8k25	T	A	2: 86,243,560 (GRCm39)	T279S	probably damaging	Het
Plcl2	T	G	17: 50,913,831 (GRCm39)	I280S	probably benign	Het
Ppargc1a	A	T	5: 51,630,264 (GRCm39)	Y618N	unknown	Het
Rab43	A	T	6: 87,788,348 (GRCm39)	I60N	probably damaging	Het
Rnf126	A	T	10: 79,596,726 (GRCm39)	C231S	probably damaging	Het
Rnf220	T	A	4: 117,164,787 (GRCm39)	E238D	probably damaging	Het
Scn9a	A	T	2: 66,335,193 (GRCm39)	D1265E	probably damaging	Het
Sntb2	T	A	8: 107,728,269 (GRCm39)	S406T	probably damaging	Het
Sos1	T	C	17: 80,714,267 (GRCm39)	I1068V	probably benign	Het
Tlx3	A	T	11: 33,153,058 (GRCm39)	F134L	probably damaging	Het
Trbj1-2	A	T	6: 41,510,964 (GRCm39)	T10S		Het
Txk	A	C	5: 72,892,536 (GRCm39)	L33R	probably damaging	Het
Ulk2	A	G	11: 61,682,258 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,900,556 (GRCm39)	S357P	probably benign	Het
Wac	T	A	18: 7,921,560 (GRCm39)	N565K	possibly damaging	Het
Zfp1007	A	T	5: 109,823,622 (GRCm39)	C609*	probably null	Het
Zfp709	G	T	8: 72,644,684 (GRCm39)	K704N	probably damaging	Het
Zfp788	C	T	7: 41,299,049 (GRCm39)	Q562*	probably null	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
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
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'- TCAAATCACTTTAGGGCCTGCC -3'
(R):5'- AGCAAGCCTGAGTTTCTTGG -3'

Sequencing Primer
(F):5'- AGGTTCACCTAGCAGGCACAG -3'
(R):5'- CAAGCCTGAGTTTCTTGGGTAGC -3'

Posted On

2020-08-01