Mutagenetix > Incidental Mutation

Incidental Mutation 'R7611:Spast'

588639

Institutional Source

Beutler Lab

Gene Symbol

Spast

Ensembl Gene

ENSMUSG00000024068

Gene Name

spastin

Synonyms

Spg4

MMRRC Submission

045715-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74645982-74698110 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74676198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 337 (V337D)

Ref Sequence

ENSEMBL: ENSMUSP00000024869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024869] [ENSMUST00000224711] [ENSMUST00000225549]

AlphaFold

Q9QYY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000024869
AA Change: V337D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024869
Gene: ENSMUSG00000024068
AA Change: V337D

Domain	Start	End	E-Value	Type
low complexity region	3	46	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
low complexity region	90	113	N/A	INTRINSIC
MIT	114	192	4.33e-18	SMART
AAA	372	508	7.59e-17	SMART
low complexity region	513	520	N/A	INTRINSIC
Pfam:Vps4_C	560	610	1.3e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000224711
AA Change: V336D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225549

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutation in this gene are sterile and display progressive axonopathy with focal axonal swellings and late onset gait abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adcy8	C	T	15: 64,792,882 (GRCm39)	G25S	probably benign	Het
Ahnak2	G	T	12: 112,751,749 (GRCm39)	D35E		Het
Birc6	T	C	17: 74,969,713 (GRCm39)	M4261T	probably damaging	Het
Caln1	T	G	5: 130,534,918 (GRCm39)	F45V	probably damaging	Het
Camta2	A	T	11: 70,572,372 (GRCm39)	I313N	possibly damaging	Het
Capns1	T	A	7: 29,889,539 (GRCm39)	E220V	probably damaging	Het
Carmil1	C	A	13: 24,197,315 (GRCm39)	V1374L	probably benign	Het
Casp2	T	G	6: 42,250,972 (GRCm39)	L290R	possibly damaging	Het
Cdkn2b	C	A	4: 89,228,980 (GRCm39)	V19L	probably benign	Het
Ces1c	T	C	8: 93,851,139 (GRCm39)	N162D	probably benign	Het
Cfap96	A	G	8: 46,423,488 (GRCm39)	Y75H	probably damaging	Het
Chd9	T	C	8: 91,763,017 (GRCm39)	S2281P	probably damaging	Het
Chst13	T	C	6: 90,285,999 (GRCm39)	D321G	probably damaging	Het
Ckap2l	G	T	2: 129,127,600 (GRCm39)	P193T	possibly damaging	Het
Clca4b	T	A	3: 144,627,757 (GRCm39)	T405S	probably benign	Het
Cmah	T	C	13: 24,619,630 (GRCm39)	V265A	probably benign	Het
Cyp3a11	A	T	5: 145,797,191 (GRCm39)	M396K	probably benign	Het
Ddr2	A	T	1: 169,825,727 (GRCm39)	M291K	possibly damaging	Het
Ddx43	T	A	9: 78,309,635 (GRCm39)	I145N	probably benign	Het
Ephb2	T	A	4: 136,388,212 (GRCm39)		probably null	Het
Fgfr1	A	T	8: 26,048,221 (GRCm39)	K106*	probably null	Het
Gpr6	A	G	10: 40,946,875 (GRCm39)	F236L	probably benign	Het
Grin2c	A	G	11: 115,143,511 (GRCm39)	S750P	probably damaging	Het
Hecw2	A	G	1: 53,952,459 (GRCm39)	S925P	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Hmg20b	T	A	10: 81,185,432 (GRCm39)		probably benign	Het
Kcnk10	T	A	12: 98,484,899 (GRCm39)	Y79F	probably damaging	Het
Lrrc30	A	T	17: 67,939,424 (GRCm39)	F52Y	probably damaging	Het
Lrriq1	T	C	10: 103,036,432 (GRCm39)	K907R	possibly damaging	Het
Mbd3	T	C	10: 80,231,352 (GRCm39)	D63G	probably damaging	Het
Mettl21a	C	T	1: 64,654,266 (GRCm39)	A84T	probably benign	Het
Mmp19	A	G	10: 128,634,857 (GRCm39)	D491G	probably benign	Het
Mug1	A	T	6: 121,852,387 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,101,243 (GRCm39)	H673L	possibly damaging	Het
Nlrc5	T	C	8: 95,239,276 (GRCm39)		probably null	Het
Nme9	T	A	9: 99,352,843 (GRCm39)	S264R	probably benign	Het
Nup153	T	C	13: 46,840,798 (GRCm39)	T937A	probably benign	Het
Obsl1	T	C	1: 75,482,024 (GRCm39)	E282G	probably damaging	Het
Or1o3	A	G	17: 37,573,745 (GRCm39)	V270A	probably benign	Het
Or2w2	A	G	13: 21,758,488 (GRCm39)	V46A	probably benign	Het
Or4l15	C	A	14: 50,198,368 (GRCm39)	A54S	probably benign	Het
Or5an10	T	A	19: 12,276,242 (GRCm39)	M85L	probably damaging	Het
Or5b99	T	A	19: 12,976,431 (GRCm39)	I27N	possibly damaging	Het
Or5m5	T	A	2: 85,814,407 (GRCm39)	C74*	probably null	Het
Or8k30	T	A	2: 86,339,397 (GRCm39)	I198K	possibly damaging	Het
Pcdhga12	T	C	18: 37,901,478 (GRCm39)	F770S	possibly damaging	Het
Pfkp	T	A	13: 6,655,119 (GRCm39)		probably null	Het
Prr29	C	G	11: 106,267,158 (GRCm39)	H58D	probably damaging	Het
Ptprz1	T	A	6: 23,001,219 (GRCm39)	M1103K	probably benign	Het
Rigi	T	C	4: 40,225,651 (GRCm39)	E250G	probably damaging	Het
Rsph4a	C	T	10: 33,781,473 (GRCm39)	P108S	probably benign	Het
Setd1b	A	C	5: 123,290,657 (GRCm39)	M875L	unknown	Het
Slc15a2	A	G	16: 36,576,673 (GRCm39)	S485P	probably benign	Het
Smoc1	A	G	12: 81,226,444 (GRCm39)	D423G	probably damaging	Het
Spesp1	T	C	9: 62,179,987 (GRCm39)	K307R	possibly damaging	Het
Sulf1	A	G	1: 12,906,467 (GRCm39)	E503G	probably benign	Het
Susd6	T	C	12: 80,921,341 (GRCm39)	Y313H	probably damaging	Het
Them4	A	T	3: 94,238,865 (GRCm39)	D224V	possibly damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Tspear	A	T	10: 77,717,049 (GRCm39)	T575S	probably benign	Het
Usp21	A	T	1: 171,113,142 (GRCm39)	H211Q	probably benign	Het
Vmn1r189	T	C	13: 22,286,322 (GRCm39)	S172G	probably benign	Het
Vmn2r114	T	C	17: 23,515,944 (GRCm39)	S516G	probably damaging	Het
Vmn2r28	T	A	7: 5,484,255 (GRCm39)	R648S	probably benign	Het
Vmn2r6	C	A	3: 64,472,563 (GRCm39)	V53F	probably damaging	Het
Vmn2r76	A	G	7: 85,879,388 (GRCm39)	I304T	probably benign	Het
Vmn2r88	A	C	14: 51,651,454 (GRCm39)	Y256S		Het
Zfhx4	A	T	3: 5,468,831 (GRCm39)	K3021N	probably damaging	Het
Zfp647	T	C	15: 76,795,988 (GRCm39)	H224R	probably damaging	Het
Zfp865	A	G	7: 5,034,130 (GRCm39)	E705G	probably damaging	Het

Other mutations in Spast

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02226:Spast	APN	17	74,679,334 (GRCm39)	splice site	probably benign
R0671:Spast	UTSW	17	74,646,446 (GRCm39)	splice site	probably benign
R1170:Spast	UTSW	17	74,688,963 (GRCm39)	critical splice acceptor site	probably null
R1698:Spast	UTSW	17	74,663,155 (GRCm39)	nonsense	probably null
R2076:Spast	UTSW	17	74,659,026 (GRCm39)	missense	probably damaging	1.00
R4334:Spast	UTSW	17	74,659,010 (GRCm39)	missense	probably damaging	1.00
R4765:Spast	UTSW	17	74,676,211 (GRCm39)	missense	probably damaging	1.00
R5002:Spast	UTSW	17	74,676,221 (GRCm39)	nonsense	probably null
R5911:Spast	UTSW	17	74,694,058 (GRCm39)	missense	probably benign	0.00
R6073:Spast	UTSW	17	74,680,300 (GRCm39)	missense	probably damaging	1.00
R6183:Spast	UTSW	17	74,680,353 (GRCm39)	missense	probably damaging	0.99
R6450:Spast	UTSW	17	74,675,835 (GRCm39)	missense	probably benign	0.01
R6819:Spast	UTSW	17	74,674,281 (GRCm39)	missense	possibly damaging	0.47
R6821:Spast	UTSW	17	74,658,957 (GRCm39)	missense	probably benign	0.02
R7349:Spast	UTSW	17	74,680,319 (GRCm39)	missense	probably damaging	0.99
R7715:Spast	UTSW	17	74,675,921 (GRCm39)	missense	probably benign	0.01
R8348:Spast	UTSW	17	74,666,293 (GRCm39)	missense	probably benign	0.41
R8448:Spast	UTSW	17	74,666,293 (GRCm39)	missense	probably benign	0.41
R8698:Spast	UTSW	17	74,666,341 (GRCm39)	missense	probably benign	0.00
R8857:Spast	UTSW	17	74,675,938 (GRCm39)	missense	possibly damaging	0.77
R8898:Spast	UTSW	17	74,695,273 (GRCm39)	missense	probably damaging	1.00
R9269:Spast	UTSW	17	74,646,069 (GRCm39)	nonsense	probably null
R9472:Spast	UTSW	17	74,681,143 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGACAAGTAAGTTCAGCCAAGTG -3'
(R):5'- CCATCTCCAGGCTTCAATGTAC -3'

Sequencing Primer
(F):5'- GCCAAGTGCTTCAACTTCTG -3'
(R):5'- AGGCTTCAATGTACTTTTCTTACAC -3'

Posted On

2019-10-24