Mutagenetix > Incidental Mutation

Incidental Mutation 'R0045:Vps13a'

15425

Institutional Source

Beutler Lab

Gene Symbol

Vps13a

Ensembl Gene

ENSMUSG00000046230

Gene Name

vacuolar protein sorting 13A

Synonyms

4930543C13Rik, D330038K10Rik, 4930516E05Rik

MMRRC Submission

038339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0045 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

16592730-16758297 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 16618174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 693 (L693*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068156] [ENSMUST00000224149]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000068156
AA Change: L2898*

SMART Domains

Protein: ENSMUSP00000068716
Gene: ENSMUSG00000046230
AA Change: L2898*

Domain	Start	End	E-Value	Type
Pfam:Chorein_N	3	117	5.4e-38	PFAM
Pfam:VPS13	139	371	3.7e-64	PFAM
low complexity region	553	563	N/A	INTRINSIC
Pfam:VPS13_mid_rpt	567	791	1.4e-69	PFAM
Pfam:VPS13_mid_rpt	1138	1329	2e-10	PFAM
low complexity region	1367	1377	N/A	INTRINSIC
Blast:INB	1575	1855	1e-149	BLAST
Pfam:SHR-BD	2200	2449	1.3e-35	PFAM
low complexity region	2510	2521	N/A	INTRINSIC
low complexity region	2632	2648	N/A	INTRINSIC
low complexity region	2719	2731	N/A	INTRINSIC
Pfam:VPS13_C	2755	2935	8.9e-66	PFAM
Pfam:ATG_C	2938	3029	1.6e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223897

Predicted Effect

probably benign
Transcript: ENSMUST00000224149

Predicted Effect

probably null
Transcript: ENSMUST00000225233
AA Change: L693*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225899

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 81.3%
3x: 72.5%
10x: 50.2%
20x: 29.9%

Validation Efficiency

92% (56/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Aging mice homozygous for a knock-out allele display motor dysfunction and abnormal social interaction, hematologic anomalies including acanthocytosis, selective atrophy of the striatum with significant apoptosis and gliosis, and reduced homovanillic acid levels in midbrain. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted(3) Gene trapped(5)

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	T	C	7: 76,348,588 (GRCm39)		probably null	Het
Ap3b2	T	C	7: 81,115,941 (GRCm39)	D650G	possibly damaging	Het
Arhgap30	A	G	1: 171,235,998 (GRCm39)	S791G	probably benign	Het
Ascc3	C	T	10: 50,594,498 (GRCm39)	R1198*	probably null	Het
Atf2	G	T	2: 73,660,200 (GRCm39)	T189N	probably benign	Het
Atf7ip	A	G	6: 136,536,814 (GRCm39)	K16E	probably damaging	Het
C8a	T	C	4: 104,684,012 (GRCm39)	K368E	probably benign	Het
Cdh23	T	C	10: 60,366,757 (GRCm39)	Y241C	probably damaging	Het
Cdon	G	A	9: 35,398,103 (GRCm39)	S940N	probably benign	Het
Cds2	G	T	2: 132,147,075 (GRCm39)	G402V	possibly damaging	Het
Cog6	T	C	3: 52,900,171 (GRCm39)		probably null	Het
Dram2	T	C	3: 106,478,133 (GRCm39)	V155A	possibly damaging	Het
Exoc3l	C	T	8: 106,020,317 (GRCm39)	V203M	probably damaging	Het
Fsip1	C	A	2: 118,078,773 (GRCm39)		probably null	Het
Htra1	T	A	7: 130,563,262 (GRCm39)	S164R	probably damaging	Het
Kcnq4	T	A	4: 120,555,152 (GRCm39)	D677V	probably damaging	Het
Lcn5	T	C	2: 25,550,710 (GRCm39)	S133P	probably damaging	Het
Liph	T	C	16: 21,786,803 (GRCm39)	Y271C	probably damaging	Het
Lpcat3	T	C	6: 124,678,437 (GRCm39)	I228T	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Pcsk6	T	A	7: 65,612,676 (GRCm39)	C315S	probably damaging	Het
Rapgef4	A	G	2: 72,029,122 (GRCm39)	H398R	possibly damaging	Het
Rpgrip1	A	T	14: 52,378,601 (GRCm39)	T509S	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,622 (GRCm39)	I1032T	probably damaging	Het
Tecta	G	A	9: 42,286,487 (GRCm39)	T723I	probably damaging	Het
Trpv4	A	G	5: 114,774,518 (GRCm39)	S189P	probably benign	Het
Vac14	G	A	8: 111,363,584 (GRCm39)	D340N	probably benign	Het
Vars1	A	T	17: 35,229,595 (GRCm39)	H404L	probably damaging	Het

Other mutations in Vps13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Vps13a	APN	19	16,729,539 (GRCm39)	missense	probably damaging	0.98
IGL00537:Vps13a	APN	19	16,657,409 (GRCm39)	missense	probably benign	0.03
IGL00562:Vps13a	APN	19	16,712,078 (GRCm39)	critical splice donor site	probably null
IGL00563:Vps13a	APN	19	16,712,078 (GRCm39)	critical splice donor site	probably null
IGL00579:Vps13a	APN	19	16,684,726 (GRCm39)	missense	probably benign	0.29
IGL00662:Vps13a	APN	19	16,681,904 (GRCm39)	missense	probably damaging	0.96
IGL00667:Vps13a	APN	19	16,737,040 (GRCm39)	missense	probably damaging	1.00
IGL01102:Vps13a	APN	19	16,628,781 (GRCm39)	critical splice donor site	probably null
IGL01139:Vps13a	APN	19	16,617,989 (GRCm39)	missense	probably damaging	0.99
IGL01142:Vps13a	APN	19	16,664,479 (GRCm39)	missense	possibly damaging	0.86
IGL01361:Vps13a	APN	19	16,720,371 (GRCm39)	missense	probably damaging	1.00
IGL01386:Vps13a	APN	19	16,678,516 (GRCm39)	missense	possibly damaging	0.87
IGL01593:Vps13a	APN	19	16,739,545 (GRCm39)	missense	probably damaging	0.98
IGL01700:Vps13a	APN	19	16,722,221 (GRCm39)	nonsense	probably null
IGL01767:Vps13a	APN	19	16,641,258 (GRCm39)	missense	probably damaging	1.00
IGL01782:Vps13a	APN	19	16,731,701 (GRCm39)	missense	probably damaging	0.98
IGL01808:Vps13a	APN	19	16,687,650 (GRCm39)	missense	probably damaging	1.00
IGL01812:Vps13a	APN	19	16,692,424 (GRCm39)	missense	probably benign
IGL01829:Vps13a	APN	19	16,596,807 (GRCm39)	missense	probably benign	0.01
IGL01893:Vps13a	APN	19	16,641,139 (GRCm39)	missense	probably damaging	1.00
IGL02222:Vps13a	APN	19	16,659,539 (GRCm39)	missense	probably benign	0.06
IGL02295:Vps13a	APN	19	16,692,406 (GRCm39)	splice site	probably benign
IGL02465:Vps13a	APN	19	16,688,305 (GRCm39)	missense	probably benign	0.11
IGL02492:Vps13a	APN	19	16,625,001 (GRCm39)	missense	probably damaging	1.00
IGL02581:Vps13a	APN	19	16,632,686 (GRCm39)	missense	probably benign	0.41
IGL02633:Vps13a	APN	19	16,697,772 (GRCm39)	missense	possibly damaging	0.82
IGL02641:Vps13a	APN	19	16,676,185 (GRCm39)	missense	probably benign	0.01
IGL02659:Vps13a	APN	19	16,630,063 (GRCm39)	missense	probably damaging	1.00
IGL02827:Vps13a	APN	19	16,618,998 (GRCm39)	missense	possibly damaging	0.91
IGL02943:Vps13a	APN	19	16,641,250 (GRCm39)	missense	probably damaging	1.00
IGL03057:Vps13a	APN	19	16,646,058 (GRCm39)	missense	probably damaging	1.00
IGL03077:Vps13a	APN	19	16,688,246 (GRCm39)	missense	probably benign
IGL03184:Vps13a	APN	19	16,631,734 (GRCm39)	missense	probably benign	0.00
eggs	UTSW	19	16,678,529 (GRCm39)	missense	probably damaging	1.00
excambio	UTSW	19	16,723,311 (GRCm39)	splice site	probably null
Faster	UTSW	19	16,596,849 (GRCm39)	missense	probably damaging	1.00
Ham	UTSW	19	16,655,333 (GRCm39)	missense	probably benign	0.08
interchange	UTSW	19	16,646,054 (GRCm39)	missense	probably damaging	1.00
PIT4377001:Vps13a	UTSW	19	16,718,265 (GRCm39)	missense	probably damaging	1.00
R0045:Vps13a	UTSW	19	16,618,174 (GRCm39)	nonsense	probably null
R0048:Vps13a	UTSW	19	16,653,504 (GRCm39)	missense	probably damaging	1.00
R0062:Vps13a	UTSW	19	16,646,054 (GRCm39)	missense	probably damaging	1.00
R0062:Vps13a	UTSW	19	16,646,054 (GRCm39)	missense	probably damaging	1.00
R0107:Vps13a	UTSW	19	16,669,188 (GRCm39)	missense	probably benign	0.03
R0135:Vps13a	UTSW	19	16,758,129 (GRCm39)	missense	probably damaging	1.00
R0138:Vps13a	UTSW	19	16,637,863 (GRCm39)	missense	possibly damaging	0.95
R0346:Vps13a	UTSW	19	16,655,333 (GRCm39)	missense	probably benign	0.08
R0359:Vps13a	UTSW	19	16,618,941 (GRCm39)	missense	probably damaging	0.99
R0530:Vps13a	UTSW	19	16,632,570 (GRCm39)	splice site	probably benign
R0541:Vps13a	UTSW	19	16,681,941 (GRCm39)	missense	probably benign	0.00
R0614:Vps13a	UTSW	19	16,630,058 (GRCm39)	missense	probably damaging	1.00
R0685:Vps13a	UTSW	19	16,758,105 (GRCm39)	missense	probably damaging	1.00
R0801:Vps13a	UTSW	19	16,664,020 (GRCm39)	splice site	probably benign
R0835:Vps13a	UTSW	19	16,712,246 (GRCm39)	splice site	probably null
R0848:Vps13a	UTSW	19	16,676,261 (GRCm39)	missense	probably damaging	1.00
R1114:Vps13a	UTSW	19	16,727,515 (GRCm39)	missense	probably benign	0.41
R1205:Vps13a	UTSW	19	16,617,905 (GRCm39)	missense	probably damaging	1.00
R1365:Vps13a	UTSW	19	16,596,810 (GRCm39)	missense	probably damaging	1.00
R1445:Vps13a	UTSW	19	16,678,602 (GRCm39)	nonsense	probably null
R1451:Vps13a	UTSW	19	16,688,228 (GRCm39)	missense	probably benign	0.01
R1479:Vps13a	UTSW	19	16,727,478 (GRCm39)	splice site	probably benign
R1533:Vps13a	UTSW	19	16,678,494 (GRCm39)	nonsense	probably null
R1600:Vps13a	UTSW	19	16,643,636 (GRCm39)	missense	probably benign	0.01
R1870:Vps13a	UTSW	19	16,737,316 (GRCm39)	missense	probably damaging	1.00
R1871:Vps13a	UTSW	19	16,642,028 (GRCm39)	missense	probably benign	0.01
R1959:Vps13a	UTSW	19	16,655,302 (GRCm39)	missense	possibly damaging	0.49
R1960:Vps13a	UTSW	19	16,702,995 (GRCm39)	missense	probably damaging	1.00
R1993:Vps13a	UTSW	19	16,699,822 (GRCm39)	missense	probably benign	0.07
R2257:Vps13a	UTSW	19	16,659,538 (GRCm39)	missense	possibly damaging	0.85
R2276:Vps13a	UTSW	19	16,687,790 (GRCm39)	missense	possibly damaging	0.47
R2326:Vps13a	UTSW	19	16,720,421 (GRCm39)	missense	possibly damaging	0.71
R2338:Vps13a	UTSW	19	16,697,817 (GRCm39)	missense	probably damaging	1.00
R2359:Vps13a	UTSW	19	16,630,043 (GRCm39)	splice site	probably benign
R2421:Vps13a	UTSW	19	16,737,035 (GRCm39)	missense	probably benign
R2847:Vps13a	UTSW	19	16,680,963 (GRCm39)	missense	probably damaging	0.98
R3081:Vps13a	UTSW	19	16,642,101 (GRCm39)	missense	probably benign	0.02
R3522:Vps13a	UTSW	19	16,743,857 (GRCm39)	splice site	probably benign
R3613:Vps13a	UTSW	19	16,662,766 (GRCm39)	missense	probably damaging	1.00
R3797:Vps13a	UTSW	19	16,723,311 (GRCm39)	splice site	probably null
R3874:Vps13a	UTSW	19	16,722,317 (GRCm39)	missense	probably benign	0.01
R4032:Vps13a	UTSW	19	16,594,263 (GRCm39)	missense	probably damaging	1.00
R4111:Vps13a	UTSW	19	16,617,992 (GRCm39)	missense	probably damaging	1.00
R4383:Vps13a	UTSW	19	16,678,529 (GRCm39)	missense	probably damaging	1.00
R4504:Vps13a	UTSW	19	16,672,866 (GRCm39)	missense	possibly damaging	0.93
R4578:Vps13a	UTSW	19	16,659,474 (GRCm39)	missense	probably damaging	0.98
R4587:Vps13a	UTSW	19	16,617,403 (GRCm39)	missense	probably damaging	1.00
R4588:Vps13a	UTSW	19	16,617,403 (GRCm39)	missense	probably damaging	1.00
R4605:Vps13a	UTSW	19	16,617,403 (GRCm39)	missense	probably damaging	1.00
R4714:Vps13a	UTSW	19	16,727,220 (GRCm39)	missense	probably benign	0.01
R4756:Vps13a	UTSW	19	16,632,580 (GRCm39)	missense	probably benign	0.01
R4831:Vps13a	UTSW	19	16,655,356 (GRCm39)	missense	probably benign	0.04
R5068:Vps13a	UTSW	19	16,723,422 (GRCm39)	missense	probably benign	0.01
R5070:Vps13a	UTSW	19	16,631,848 (GRCm39)	missense	probably benign
R5082:Vps13a	UTSW	19	16,722,257 (GRCm39)	missense	probably damaging	1.00
R5182:Vps13a	UTSW	19	16,672,863 (GRCm39)	missense	possibly damaging	0.81
R5189:Vps13a	UTSW	19	16,662,679 (GRCm39)	missense	probably damaging	1.00
R5283:Vps13a	UTSW	19	16,655,334 (GRCm39)	missense	probably damaging	0.96
R5294:Vps13a	UTSW	19	16,619,031 (GRCm39)	missense	probably damaging	1.00
R5304:Vps13a	UTSW	19	16,687,751 (GRCm39)	missense	possibly damaging	0.78
R5554:Vps13a	UTSW	19	16,699,775 (GRCm39)	missense	probably damaging	1.00
R5592:Vps13a	UTSW	19	16,702,935 (GRCm39)	missense	probably damaging	1.00
R5611:Vps13a	UTSW	19	16,702,936 (GRCm39)	missense	probably damaging	1.00
R5665:Vps13a	UTSW	19	16,646,054 (GRCm39)	missense	probably damaging	1.00
R5671:Vps13a	UTSW	19	16,692,464 (GRCm39)	missense	probably benign	0.03
R5684:Vps13a	UTSW	19	16,676,409 (GRCm39)	missense	probably benign	0.00
R5767:Vps13a	UTSW	19	16,641,928 (GRCm39)	missense	probably damaging	1.00
R5810:Vps13a	UTSW	19	16,643,688 (GRCm39)	missense	probably benign	0.00
R5866:Vps13a	UTSW	19	16,657,387 (GRCm39)	missense	probably benign	0.04
R5886:Vps13a	UTSW	19	16,641,926 (GRCm39)	missense	probably benign	0.01
R5933:Vps13a	UTSW	19	16,637,894 (GRCm39)	missense	probably benign	0.34
R5965:Vps13a	UTSW	19	16,596,392 (GRCm39)	splice site	probably null
R6259:Vps13a	UTSW	19	16,664,534 (GRCm39)	nonsense	probably null
R6346:Vps13a	UTSW	19	16,659,578 (GRCm39)	missense	possibly damaging	0.94
R6459:Vps13a	UTSW	19	16,641,382 (GRCm39)	missense	possibly damaging	0.56
R6485:Vps13a	UTSW	19	16,657,414 (GRCm39)	missense	probably damaging	0.99
R6520:Vps13a	UTSW	19	16,702,943 (GRCm39)	missense	probably damaging	1.00
R6644:Vps13a	UTSW	19	16,722,283 (GRCm39)	missense	possibly damaging	0.90
R6932:Vps13a	UTSW	19	16,655,439 (GRCm39)	missense	probably benign	0.01
R6934:Vps13a	UTSW	19	16,653,558 (GRCm39)	missense	probably damaging	1.00
R6951:Vps13a	UTSW	19	16,701,104 (GRCm39)	missense	probably benign	0.00
R7027:Vps13a	UTSW	19	16,642,028 (GRCm39)	missense	probably benign	0.01
R7126:Vps13a	UTSW	19	16,688,243 (GRCm39)	missense	probably benign
R7206:Vps13a	UTSW	19	16,731,662 (GRCm39)	missense	probably damaging	1.00
R7248:Vps13a	UTSW	19	16,655,406 (GRCm39)	missense	probably benign	0.25
R7252:Vps13a	UTSW	19	16,638,428 (GRCm39)	missense	probably benign	0.00
R7255:Vps13a	UTSW	19	16,631,703 (GRCm39)	critical splice donor site	probably null
R7382:Vps13a	UTSW	19	16,596,849 (GRCm39)	missense	probably damaging	1.00
R7422:Vps13a	UTSW	19	16,727,537 (GRCm39)	missense	probably damaging	1.00
R7425:Vps13a	UTSW	19	16,701,066 (GRCm39)	missense	probably benign	0.13
R7523:Vps13a	UTSW	19	16,681,153 (GRCm39)	missense	probably benign
R7586:Vps13a	UTSW	19	16,624,962 (GRCm39)	missense	probably benign	0.08
R7587:Vps13a	UTSW	19	16,681,153 (GRCm39)	missense	probably benign	0.00
R7593:Vps13a	UTSW	19	16,703,027 (GRCm39)	missense	probably damaging	1.00
R7637:Vps13a	UTSW	19	16,727,513 (GRCm39)	missense	probably benign	0.02
R7763:Vps13a	UTSW	19	16,723,364 (GRCm39)	missense	possibly damaging	0.95
R7813:Vps13a	UTSW	19	16,628,820 (GRCm39)	missense	possibly damaging	0.81
R7815:Vps13a	UTSW	19	16,702,936 (GRCm39)	missense	probably damaging	1.00
R7861:Vps13a	UTSW	19	16,632,668 (GRCm39)	missense	probably damaging	1.00
R7909:Vps13a	UTSW	19	16,697,794 (GRCm39)	nonsense	probably null
R7939:Vps13a	UTSW	19	16,718,155 (GRCm39)	missense	possibly damaging	0.94
R8108:Vps13a	UTSW	19	16,618,151 (GRCm39)	missense	probably damaging	1.00
R8123:Vps13a	UTSW	19	16,625,066 (GRCm39)	missense	probably benign	0.01
R8134:Vps13a	UTSW	19	16,631,718 (GRCm39)	missense	possibly damaging	0.71
R8168:Vps13a	UTSW	19	16,726,912 (GRCm39)	missense	probably benign	0.09
R8272:Vps13a	UTSW	19	16,727,209 (GRCm39)	critical splice donor site	probably null
R8293:Vps13a	UTSW	19	16,645,969 (GRCm39)	missense	possibly damaging	0.81
R8303:Vps13a	UTSW	19	16,594,270 (GRCm39)	missense	probably benign	0.00
R8383:Vps13a	UTSW	19	16,701,069 (GRCm39)	missense	possibly damaging	0.83
R8386:Vps13a	UTSW	19	16,678,483 (GRCm39)	critical splice donor site	probably null
R8433:Vps13a	UTSW	19	16,718,600 (GRCm39)	missense	possibly damaging	0.56
R8436:Vps13a	UTSW	19	16,718,157 (GRCm39)	missense	probably benign	0.10
R8450:Vps13a	UTSW	19	16,631,871 (GRCm39)	splice site	probably null
R8476:Vps13a	UTSW	19	16,699,821 (GRCm39)	missense	possibly damaging	0.60
R8501:Vps13a	UTSW	19	16,659,484 (GRCm39)	missense	probably benign	0.39
R8552:Vps13a	UTSW	19	16,731,684 (GRCm39)	missense	probably damaging	0.99
R8680:Vps13a	UTSW	19	16,623,270 (GRCm39)	missense	possibly damaging	0.84
R8784:Vps13a	UTSW	19	16,642,153 (GRCm39)	missense	probably damaging	1.00
R8871:Vps13a	UTSW	19	16,641,186 (GRCm39)	missense	probably damaging	1.00
R8945:Vps13a	UTSW	19	16,642,114 (GRCm39)	missense	probably damaging	1.00
R8948:Vps13a	UTSW	19	16,723,340 (GRCm39)	missense	probably damaging	0.99
R8950:Vps13a	UTSW	19	16,723,340 (GRCm39)	missense	probably damaging	0.99
R8960:Vps13a	UTSW	19	16,683,247 (GRCm39)	missense	possibly damaging	0.67
R9189:Vps13a	UTSW	19	16,663,961 (GRCm39)	missense	probably benign
R9366:Vps13a	UTSW	19	16,672,894 (GRCm39)	missense	probably damaging	1.00
R9505:Vps13a	UTSW	19	16,719,908 (GRCm39)	missense	possibly damaging	0.94
R9601:Vps13a	UTSW	19	16,623,337 (GRCm39)	missense	possibly damaging	0.84
R9735:Vps13a	UTSW	19	16,701,111 (GRCm39)	missense	probably damaging	1.00
R9776:Vps13a	UTSW	19	16,736,958 (GRCm39)	missense	probably benign
R9796:Vps13a	UTSW	19	16,631,828 (GRCm39)	missense	probably benign	0.01
X0061:Vps13a	UTSW	19	16,623,232 (GRCm39)	missense	probably benign	0.40
X0066:Vps13a	UTSW	19	16,719,917 (GRCm39)	missense	probably benign	0.33
Z1177:Vps13a	UTSW	19	16,676,477 (GRCm39)	critical splice acceptor site	probably null
Z31818:Vps13a	UTSW	19	16,758,118 (GRCm39)	missense	possibly damaging	0.94

Protein Function and Prediction

Vps13a encodes chorein (alternatively, CHAC), a protein proposed to function in cytoskeleton and intracellular protein sorting including the regulation of dense-core vesicle exocytosis (1-5).

Expression/Localization

One study observed the Vps13a transcript in heart, skeletal muscle, and kidney (6). Chorein is highly expressed in testis, kidney, spleen, and brain. In wild-type mouse brain, chorein is predominantly localized to microsomal and synaptosomal fractions, the neuronal perinuclear region, cytoplasm, and fibers (7).

Background

Mutations in VPS13A are linked to choreoacanthocytosis [OMIM: #200150; (1;6)], a disorder characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life (8).

Vps13a^{tm1Asan/tm1Asan}; MGI:3531502

involves: 129S/SvEv

Aging mice homozygous for a knock-out allele display motor dysfunction and abnormal social interaction, hematologic anomalies including acanthocytosis, selective atrophy of the striatum with significant apoptosis and gliosis, and reduced homovanillic acid levels in midbrain (9).

References

1. Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carre, S., Alonso, E., Manfredi, M., Nemeth, A. H., and Monaco, A. P. (2001) A Conserved Sorting-Associated Protein is Mutant in Chorea-Acanthocytosis. Nat Genet. 28, 119-120.

2. Velayos-Baeza, A., Vettori, A., Copley, R. R., Dobson-Stone, C., and Monaco, A. P. (2004) Analysis of the Human VPS13 Gene Family. Genomics. 84, 536-549.

3. Hayashi, T., Kishida, M., Nishizawa, Y., Iijima, M., Koriyama, C., Nakamura, M., Sano, A., and Kishida, S. (2012) Subcellular Localization and Putative Role of VPS13A/chorein in Dopaminergic Neuronal Cells. Biochem Biophys Res Commun. 419, 511-516.

4. Stege, J. T., Laub, M. T., and Loomis, W. F. (1999) Tip Genes Act in Parallel Pathways of Early Dictyostelium Development. Dev Genet. 25, 64-77.

5. Brickner, J. H., and Fuller, R. S. (1997) SOI1 Encodes a Novel, Conserved Protein that Promotes TGN-Endosomal Cycling of Kex2p and Other Membrane Proteins by Modulating the Function of Two TGN Localization Signals. J Cell Biol. 139, 23-36.

6. Ueno, S., Maruki, Y., Nakamura, M., Tomemori, Y., Kamae, K., Tanabe, H., Yamashita, Y., Matsuda, S., Kaneko, S., and Sano, A. (2001) The Gene Encoding a Newly Discovered Protein, Chorein, is Mutated in Chorea-Acanthocytosis. Nat Genet. 28, 121-122.

7. Kurano, Y., Nakamura, M., Ichiba, M., Matsuda, M., Mizuno, E., Kato, M., Agemura, A., Izumo, S., and Sano, A. (2007) In Vivo Distribution and Localization of Chorein. Biochem Biophys Res Commun. 353, 431-435.

8. Rubio, J. P., Danek, A., Stone, C., Chalmers, R., Wood, N., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Manfredi, M., Vance, J., Pericak-Vance, M., Brown, R., Rudolf, G., Picard, F., Alonso, E., Brin, M., Nemeth, A. H., Farrall, M., and Monaco, A. P. (1997) Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21. Am J Hum Genet. 61, 899-908.

9. Tomemori, Y., Ichiba, M., Kusumoto, A., Mizuno, E., Sato, D., Muroya, S., Nakamura, M., Kawaguchi, H., Yoshida, H., Ueno, S., Nakao, K., Nakamura, K., Aiba, A., Katsuki, M., and Sano, A. (2005) A Gene-Targeted Mouse Model for Chorea-Acanthocytosis. J Neurochem. 92, 759-766.

Posted On

2012-12-21

Science Writer

Anne Murray