Mutagenetix > Incidental Mutation

Incidental Mutation 'R6520:Vps13a'

521235

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 #

R6520 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16592730-16758297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16702943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 670 (L670H)

Ref Sequence

ENSEMBL: ENSMUSP00000068716 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000068156
AA Change: L670H

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

SMART Domains

Protein: ENSMUSP00000068716
Gene: ENSMUSG00000046230
AA Change: L670H

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: ENSMUST00000223846

Predicted Effect

probably damaging
Transcript: ENSMUST00000224149
AA Change: L670H

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,467,285 (GRCm39)	D116G	possibly damaging	Het
Adam22	C	T	5: 8,166,635 (GRCm39)	V699M	probably damaging	Het
Adh7	A	G	3: 137,929,771 (GRCm39)	Y149C	probably damaging	Het
Adissp	G	T	2: 130,989,174 (GRCm39)	H111N	probably damaging	Het
Angptl3	A	C	4: 98,926,085 (GRCm39)	N405T	probably benign	Het
Ank3	A	G	10: 69,824,217 (GRCm39)	H180R	probably damaging	Het
Apob	T	A	12: 8,033,124 (GRCm39)	I159N	probably damaging	Het
Arhgap24	T	C	5: 103,028,659 (GRCm39)	V185A	probably benign	Het
Atf6	A	T	1: 170,695,238 (GRCm39)	H11Q	probably benign	Het
Atxn3	C	A	12: 101,900,660 (GRCm39)	D208Y	probably damaging	Het
Brd9	G	A	13: 74,090,913 (GRCm39)	R273K	probably benign	Het
Cbfa2t3	T	A	8: 123,362,540 (GRCm39)	R302W	probably benign	Het
Ccdc175	C	A	12: 72,186,804 (GRCm39)	G347C	probably damaging	Het
Ccdc87	A	G	19: 4,891,817 (GRCm39)	K770E	probably damaging	Het
Ccl17	T	C	8: 95,537,178 (GRCm39)	F27L	probably benign	Het
Cd3g	A	T	9: 44,882,613 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,809,082 (GRCm39)	V498A	probably benign	Het
Cfap45	A	G	1: 172,368,151 (GRCm39)	D381G	probably damaging	Het
Cfap46	A	G	7: 139,194,321 (GRCm39)		probably null	Het
Cnrip1	T	A	11: 17,028,536 (GRCm39)	M156K	probably damaging	Het
Col23a1	T	C	11: 51,440,552 (GRCm39)		probably null	Het
Col4a1	C	T	8: 11,269,152 (GRCm39)	G933S	probably damaging	Het
Col5a3	C	T	9: 20,685,348 (GRCm39)	V1443I	unknown	Het
Col6a6	T	C	9: 105,663,024 (GRCm39)	E171G	possibly damaging	Het
Dennd1a	A	T	2: 37,851,759 (GRCm39)		probably null	Het
Dlk2	C	T	17: 46,613,438 (GRCm39)	T188I	probably damaging	Het
Dusp8	A	G	7: 141,637,418 (GRCm39)	I203T	probably damaging	Het
Eno2	C	T	6: 124,744,678 (GRCm39)	R56H	probably damaging	Het
Erich3	A	T	3: 154,469,102 (GRCm39)	T1185S	probably damaging	Het
Evi5l	A	T	8: 4,255,906 (GRCm39)	Q575L	possibly damaging	Het
Fam187a	T	A	11: 102,776,701 (GRCm39)	H168Q	possibly damaging	Het
Fat2	T	A	11: 55,175,814 (GRCm39)	E1633V	probably damaging	Het
Fbln2	G	A	6: 91,236,641 (GRCm39)	D719N	probably damaging	Het
Fbn2	A	T	18: 58,235,462 (GRCm39)	S672T	probably damaging	Het
Gas8	C	G	8: 124,253,213 (GRCm39)	A187G	probably benign	Het
Gm2696	G	A	10: 77,672,332 (GRCm39)		probably benign	Het
Gnl1	A	T	17: 36,293,845 (GRCm39)	K272M	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hemgn	T	G	4: 46,396,466 (GRCm39)	K257Q	probably damaging	Het
Hgsnat	T	C	8: 26,443,328 (GRCm39)	Y474C	probably damaging	Het
Hoxc4	T	C	15: 102,943,380 (GRCm39)	S78P	probably benign	Het
Igkv14-100	T	A	6: 68,496,218 (GRCm39)	L37Q	probably damaging	Het
Iqck	A	T	7: 118,540,854 (GRCm39)	K251M	probably damaging	Het
Itgal	A	T	7: 126,929,503 (GRCm39)	Q1140L	probably benign	Het
Itpka	A	G	2: 119,581,259 (GRCm39)	R431G	probably benign	Het
Jade1	A	G	3: 41,558,917 (GRCm39)	N333D	possibly damaging	Het
Jmjd7	A	G	2: 119,861,800 (GRCm39)	H181R	probably damaging	Het
Jmy	A	G	13: 93,590,547 (GRCm39)	S519P	probably benign	Het
Klra10	T	A	6: 130,252,755 (GRCm39)	H173L	probably benign	Het
Krt72	T	G	15: 101,689,481 (GRCm39)	I284L	probably benign	Het
Krt78	C	A	15: 101,860,206 (GRCm39)	V237F	probably benign	Het
Mapkapk3	G	A	9: 107,134,648 (GRCm39)	T296M	probably damaging	Het
Mcmbp	A	C	7: 128,314,451 (GRCm39)	V255G	possibly damaging	Het
Mcoln1	T	G	8: 3,555,855 (GRCm39)	M50R	probably damaging	Het
Mocos	T	A	18: 24,799,447 (GRCm39)	V227E	probably benign	Het
Mpeg1	A	G	19: 12,439,322 (GRCm39)	E260G	probably benign	Het
Mrc1	A	T	2: 14,312,760 (GRCm39)	N894I	probably damaging	Het
Mroh7	A	G	4: 106,578,460 (GRCm39)	S73P	probably benign	Het
Myo3a	A	T	2: 22,404,737 (GRCm39)	I690L	possibly damaging	Het
Naa50	T	G	16: 43,979,872 (GRCm39)	F87V	probably damaging	Het
Ndufs6	G	T	13: 73,476,471 (GRCm39)	T32K	probably damaging	Het
Nfe2l2	A	G	2: 75,506,912 (GRCm39)	V396A	probably benign	Het
Nptn	A	G	9: 58,551,017 (GRCm39)	E348G	probably damaging	Het
Nsun4	A	T	4: 115,901,935 (GRCm39)	L177Q	probably damaging	Het
Or56b1b	A	G	7: 108,164,046 (GRCm39)	*319Q	probably null	Het
Or8d6	T	C	9: 39,853,658 (GRCm39)	I34T	possibly damaging	Het
Or8k36-ps1	A	G	2: 86,437,462 (GRCm39)	L151P	unknown	Het
Plekha7	A	G	7: 115,763,717 (GRCm39)	V233A	probably benign	Het
Polq	C	A	16: 36,880,739 (GRCm39)	Q968K	possibly damaging	Het
Prmt7	C	T	8: 106,961,516 (GRCm39)	T143M	probably damaging	Het
Ptprc	G	A	1: 138,007,881 (GRCm39)	Q886*	probably null	Het
Rbp7	C	A	4: 149,537,371 (GRCm39)	V36L	possibly damaging	Het
Rev3l	A	T	10: 39,698,698 (GRCm39)	N1065I	probably benign	Het
Scamp5	A	T	9: 57,354,489 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,316,118 (GRCm39)	S1698P	probably damaging	Het
Spr	C	A	6: 85,114,474 (GRCm39)	R85L	probably benign	Het
Sptlc2	A	C	12: 87,402,436 (GRCm39)	N163K	probably benign	Het
Stk10	C	T	11: 32,538,839 (GRCm39)	T226M	probably damaging	Het
Sv2c	A	G	13: 96,123,229 (GRCm39)	Y415H	probably benign	Het
Tet1	A	G	10: 62,715,792 (GRCm39)	M1T	probably null	Het
Tnnt1	T	A	7: 4,512,060 (GRCm39)	K150*	probably null	Het
Trappc10	C	T	10: 78,037,287 (GRCm39)	V839M	probably benign	Het
Ubap2	T	C	4: 41,195,155 (GRCm39)	N1131S	probably damaging	Het
Upk2	T	C	9: 44,364,803 (GRCm39)	E132G	probably damaging	Het
Vmn2r117	A	T	17: 23,679,193 (GRCm39)	V677D	probably damaging	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Zfp512	G	A	5: 31,623,984 (GRCm39)	R67H	probably damaging	Het
Zfp804b	T	A	5: 6,819,283 (GRCm39)	H1260L	probably damaging	Het
Zzef1	C	A	11: 72,716,891 (GRCm39)	N360K	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAAATTTATTCACCGACCACAAGG -3'
(R):5'- CTAGGGCACTTTAAAATCAGTACTG -3'

Sequencing Primer
(F):5'- GCACTTGCAGTTTTTGAGAGAACC -3'
(R):5'- GCACTTTAAAATCAGTACTGACTTTG -3'

Posted On

2018-06-06