Mutagenetix > Incidental Mutation

Incidental Mutation 'R8303:Vps13a'

639360

Institutional Source

Beutler Lab

Gene Symbol

Vps13a

Ensembl Gene

ENSMUSG00000046230

Gene Name

vacuolar protein sorting 13A

Synonyms

4930543C13Rik, D330038K10Rik, 4930516E05Rik

MMRRC Submission

067715-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16592730-16758297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16594270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 3154 (T3154A)

Ref Sequence

ENSEMBL: ENSMUSP00000068716 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000068156
AA Change: T3154A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000068716
Gene: ENSMUSG00000046230
AA Change: T3154A

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

Meta Mutation Damage Score

0.0622

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,770,966 (GRCm39)	D149E	probably benign	Het
Aars2	T	C	17: 45,818,523 (GRCm39)	C103R	probably damaging	Het
Aass	T	C	6: 23,092,367 (GRCm39)	D591G	probably benign	Het
Arhgap32	A	G	9: 32,172,205 (GRCm39)	T1662A	probably benign	Het
Arhgap42	A	T	9: 9,009,327 (GRCm39)	I520N	probably damaging	Het
Arhgef3	T	C	14: 27,116,095 (GRCm39)	I279T	probably damaging	Het
Arid4b	A	G	13: 14,294,808 (GRCm39)	K30R	probably damaging	Het
Asxl3	C	T	18: 22,657,473 (GRCm39)	R1828W	probably benign	Het
Bid	T	C	6: 120,877,200 (GRCm39)	Y47C	probably benign	Het
Card6	T	C	15: 5,134,847 (GRCm39)	T119A	probably benign	Het
Cbr1	T	C	16: 93,406,905 (GRCm39)	I207T	probably damaging	Het
Cep135	T	C	5: 76,759,575 (GRCm39)	L443P	probably damaging	Het
Cfap251	T	A	5: 123,460,650 (GRCm39)	V1204E	probably damaging	Het
Cfap43	T	A	19: 47,754,274 (GRCm39)	R1017*	probably null	Het
Cfap52	T	A	11: 67,830,621 (GRCm39)	S280C	probably benign	Het
Cntnap5b	T	C	1: 100,069,022 (GRCm39)	F81L	probably damaging	Het
Cyp4a12a	A	G	4: 115,186,130 (GRCm39)	D430G	probably damaging	Het
Cyp4f37	G	A	17: 32,853,152 (GRCm39)		probably null	Het
Dclre1a	A	G	19: 56,531,121 (GRCm39)	S742P	probably damaging	Het
Ddx54	T	C	5: 120,759,855 (GRCm39)	F414S	probably damaging	Het
Dsp	A	G	13: 38,381,319 (GRCm39)	N2688S	probably benign	Het
Elovl4	A	T	9: 83,670,320 (GRCm39)		probably null	Het
Erbin	A	C	13: 103,966,694 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,818,724 (GRCm39)	D4819G	probably benign	Het
Gapvd1	G	A	2: 34,602,212 (GRCm39)	P645L	probably damaging	Het
Gbp9	T	C	5: 105,229,171 (GRCm39)	E492G	possibly damaging	Het
Gpc5	T	A	14: 115,665,667 (GRCm39)	I497K	probably benign	Het
Hlx	A	G	1: 184,459,905 (GRCm39)	L411P	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Ice1	A	T	13: 70,754,526 (GRCm39)	I520N	probably benign	Het
Ist1	T	C	8: 110,410,412 (GRCm39)		probably null	Het
Itga3	T	C	11: 94,953,466 (GRCm39)	D292G	probably benign	Het
Kif21a	T	C	15: 90,855,399 (GRCm39)	N655S	probably damaging	Het
Lrrtm1	A	G	6: 77,221,662 (GRCm39)	H373R	probably benign	Het
Ngdn	A	T	14: 55,260,602 (GRCm39)	H270L	probably benign	Het
Nol4	G	A	18: 23,173,231 (GRCm39)		probably benign	Het
Nup50l	T	C	6: 96,142,702 (GRCm39)	E114G	probably benign	Het
Nxpe5	G	A	5: 138,239,264 (GRCm39)		probably benign	Het
Or1j18	A	G	2: 36,624,467 (GRCm39)	I45V	probably damaging	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or8d1	A	C	9: 38,766,837 (GRCm39)	T160P	probably damaging	Het
Or8g30	A	C	9: 39,230,689 (GRCm39)	S74A	probably damaging	Het
Pask	C	A	1: 93,248,286 (GRCm39)	R1005L	probably benign	Het
Pcm1	A	G	8: 41,736,758 (GRCm39)	T875A	probably damaging	Het
Pdrg1	A	T	2: 152,851,587 (GRCm39)	I130N	probably damaging	Het
Plec	A	T	15: 76,073,466 (GRCm39)	M448K	unknown	Het
R3hdml	T	G	2: 163,341,832 (GRCm39)	V204G	probably damaging	Het
Rasa4	G	A	5: 136,118,235 (GRCm39)	V32M	possibly damaging	Het
Scaf8	T	C	17: 3,198,827 (GRCm39)	V44A	unknown	Het
Smad3	G	T	9: 63,574,760 (GRCm39)	P177T	probably benign	Het
Smpd4	T	A	16: 17,457,195 (GRCm39)	F384L	probably damaging	Het
Sycp2l	G	C	13: 41,283,275 (GRCm39)	L170F	probably damaging	Het
Tas2r107	T	C	6: 131,636,585 (GRCm39)	S155G	probably benign	Het
Tmem143	T	A	7: 45,565,994 (GRCm39)	M439K	probably benign	Het
Ttc41	A	T	10: 86,555,494 (GRCm39)	T317S	probably benign	Het
Umps	A	G	16: 33,784,240 (GRCm39)	V71A	possibly damaging	Het
Usp17lc	G	A	7: 103,067,389 (GRCm39)	G228D	possibly damaging	Het
Usp17ld	C	T	7: 102,900,023 (GRCm39)	C303Y	probably damaging	Het
Vmn2r65	C	A	7: 84,589,391 (GRCm39)	E842*	probably null	Het
Vmn2r94	A	G	17: 18,464,433 (GRCm39)	F619S	probably damaging	Het
Vps13b	C	T	15: 35,640,063 (GRCm39)	T1311I	probably damaging	Het
Xpot	A	T	10: 121,447,405 (GRCm39)	Y353*	probably null	Het
Zfp319	A	T	8: 96,055,765 (GRCm39)	L146Q	probably damaging	Het
Zfp422	T	A	6: 116,603,612 (GRCm39)	H129L	probably damaging	Het
Zzef1	T	C	11: 72,808,015 (GRCm39)	F2709L	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
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
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'- TTAGGAAACTGAACGGACCATC -3'
(R):5'- AGAAAATGAGCTGTGTCCATGC -3'

Sequencing Primer
(F):5'- CTGCACTTTAATCACAGAGCTG -3'
(R):5'- GTGTCCATGCTCTCTTCTACAGTATG -3'

Posted On

2020-07-28