Mutagenetix > Incidental Mutation

Incidental Mutation 'Z31818:Vps13a'

478404

Institutional Source

Beutler Lab

Gene Symbol

Vps13a

Ensembl Gene

ENSMUSG00000046230

Gene Name

vacuolar protein sorting 13A

Synonyms

4930543C13Rik, D330038K10Rik, 4930516E05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

Z31818 (F1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16592730-16758297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16758118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 6 (V6M)

Ref Sequence

ENSEMBL: ENSMUSP00000068716 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000051080

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068156
AA Change: V6M

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068716
Gene: ENSMUSG00000046230
AA Change: V6M

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

possibly damaging
Transcript: ENSMUST00000224149
AA Change: V6M

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225764

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 96.9%
20x: 89.9%

Validation Efficiency

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dmrtc2	C	A	7: 24,576,583 (GRCm39)	P336T	probably benign	Het
Flt3	C	T	5: 147,303,728 (GRCm39)		probably null	Het
Fndc5	G	A	4: 129,033,142 (GRCm39)	D70N	probably damaging	Het
Gan	T	A	8: 117,922,536 (GRCm39)	I423N	probably damaging	Het
Itpr3	T	G	17: 27,314,452 (GRCm39)	L634R	probably damaging	Het
Ndufb5	T	A	3: 32,800,610 (GRCm39)	M74K	probably benign	Het
Or9m1b	A	T	2: 87,836,234 (GRCm39)	L287*	probably null	Het
Osbpl6	A	G	2: 76,385,426 (GRCm39)	R287G	probably damaging	Het
Pkd1l3	A	C	8: 110,395,924 (GRCm39)	N2098T	probably damaging	Het
Proser3	G	A	7: 30,245,790 (GRCm39)	P97L	possibly damaging	Het
Rag2	G	A	2: 101,461,150 (GRCm39)	A487T	probably damaging	Het
Sorl1	A	T	9: 41,952,892 (GRCm39)	C716*	probably null	Het
Ugt1a6b	T	C	1: 88,034,877 (GRCm39)	Y72H	probably benign	Het
Vmn2r74	T	C	7: 85,604,729 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CATAACTTGAAGGGCGAGGC -3'
(R):5'- GTTGCTAAGCGACGGATAGG -3'

Sequencing Primer
(F):5'- CAAGGACCGAAGCCACGAG -3'
(R):5'- GTGCGAGCGGCTACCTTC -3'

Posted On

2017-06-26