Mutagenetix > Incidental Mutation

Incidental Mutation 'R4916:Vps13d'

380046

Institutional Source

Beutler Lab

Gene Symbol

Vps13d

Ensembl Gene

ENSMUSG00000020220

Gene Name

vacuolar protein sorting 13D

Synonyms

MMRRC Submission

042518-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144699192-144921575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144709963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 4211 (L4211P)

Ref Sequence

ENSEMBL: ENSMUSP00000020441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020441] [ENSMUST00000036579] [ENSMUST00000130704]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020441
AA Change: L4211P

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

SMART Domains

Protein: ENSMUSP00000020441
Gene: ENSMUSG00000020220
AA Change: L4211P

Domain	Start	End	E-Value	Type
Pfam:Chorein_N	2	118	1.8e-37	PFAM
low complexity region	407	423	N/A	INTRINSIC
low complexity region	534	555	N/A	INTRINSIC
coiled coil region	665	685	N/A	INTRINSIC
low complexity region	765	781	N/A	INTRINSIC
low complexity region	1316	1329	N/A	INTRINSIC
low complexity region	1590	1603	N/A	INTRINSIC
Blast:IL1	1605	1726	2e-6	BLAST
low complexity region	1868	1883	N/A	INTRINSIC
low complexity region	2128	2141	N/A	INTRINSIC
UBA	2632	2669	3.73e-5	SMART
low complexity region	2674	2684	N/A	INTRINSIC
low complexity region	2707	2718	N/A	INTRINSIC
low complexity region	2866	2884	N/A	INTRINSIC
low complexity region	2973	2983	N/A	INTRINSIC
Pfam:DUF1162	3246	3530	1.1e-110	PFAM
low complexity region	3797	3810	N/A	INTRINSIC
low complexity region	3913	3921	N/A	INTRINSIC
low complexity region	4119	4132	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000036579
AA Change: L4242P

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

SMART Domains

Protein: ENSMUSP00000043240
Gene: ENSMUSG00000020220
AA Change: L4242P

Domain	Start	End	E-Value	Type
Pfam:Chorein_N	2	116	3.5e-35	PFAM
Pfam:VPS13	131	353	9.6e-57	PFAM
low complexity region	407	423	N/A	INTRINSIC
low complexity region	534	555	N/A	INTRINSIC
Pfam:VPS13_mid_rpt	608	896	4.3e-35	PFAM
low complexity region	1316	1329	N/A	INTRINSIC
low complexity region	1590	1603	N/A	INTRINSIC
Blast:IL1	1605	1726	2e-6	BLAST
low complexity region	1868	1883	N/A	INTRINSIC
low complexity region	2128	2141	N/A	INTRINSIC
UBA	2632	2669	3.73e-5	SMART
low complexity region	2674	2684	N/A	INTRINSIC
low complexity region	2707	2718	N/A	INTRINSIC
low complexity region	2891	2909	N/A	INTRINSIC
low complexity region	2998	3008	N/A	INTRINSIC
Pfam:SHR-BD	3271	3555	4.2e-86	PFAM
low complexity region	3822	3835	N/A	INTRINSIC
low complexity region	3938	3946	N/A	INTRINSIC
Pfam:VPS13_C	3978	4126	4.8e-24	PFAM
low complexity region	4144	4157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130704
AA Change: F1062L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000118699
Gene: ENSMUSG00000020220
AA Change: F1062L

Domain	Start	End	E-Value	Type
Pfam:DUF1162	162	446	1.4e-111	PFAM
low complexity region	713	726	N/A	INTRINSIC
low complexity region	829	837	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147511

Predicted Effect

probably damaging
Transcript: ENSMUST00000185113
AA Change: L3062P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595D18Rik	G	A	12: 111,141,369 (GRCm39)	Q19*	probably null	Het
6030468B19Rik	T	A	11: 117,697,092 (GRCm39)	C230*	probably null	Het
Adcy10	A	G	1: 165,345,815 (GRCm39)	E288G	probably damaging	Het
Adnp	T	A	2: 168,029,537 (GRCm39)	T51S	possibly damaging	Het
Agap3	C	A	5: 24,683,011 (GRCm39)	A464D	probably damaging	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Ahi1	A	G	10: 20,860,303 (GRCm39)	R675G	probably damaging	Het
Amigo1	T	A	3: 108,094,981 (GRCm39)	L160Q	probably damaging	Het
Ankrd35	T	C	3: 96,591,438 (GRCm39)	S575P	probably benign	Het
Ano3	T	A	2: 110,601,365 (GRCm39)	T298S	possibly damaging	Het
Ap2b1	T	G	11: 83,281,532 (GRCm39)	F813V	probably damaging	Het
Aplnr	T	G	2: 84,967,261 (GRCm39)	F95L	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Ascc1	A	G	10: 59,840,684 (GRCm39)	N15S	probably benign	Het
AY358078	T	A	14: 52,040,108 (GRCm39)	Y73N	unknown	Het
B3gnt8	C	A	7: 25,328,308 (GRCm39)	P246Q	probably damaging	Het
C2cd2l	T	C	9: 44,227,857 (GRCm39)	Q250R	probably damaging	Het
Camk2d	T	C	3: 126,577,624 (GRCm39)	Y180H	probably damaging	Het
Ccdc170	A	G	10: 4,468,971 (GRCm39)	E167G	probably damaging	Het
Cdcp3	T	A	7: 130,776,206 (GRCm39)		probably null	Het
Cdyl2	A	G	8: 117,305,926 (GRCm39)	M445T	probably damaging	Het
Clca3a1	T	C	3: 144,721,605 (GRCm39)	D322G	probably benign	Het
Cnot10	C	T	9: 114,458,202 (GRCm39)	M101I	possibly damaging	Het
Cntrl	C	T	2: 35,055,694 (GRCm39)	T1196M	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcaf6	T	C	1: 165,247,774 (GRCm39)	D153G	probably damaging	Het
Dennd2c	G	A	3: 103,039,140 (GRCm39)	G96E	probably benign	Het
Dhrs9	T	C	2: 69,231,752 (GRCm39)	F304S	probably damaging	Het
Dmxl1	T	C	18: 50,010,764 (GRCm39)	S974P	probably damaging	Het
Dnah6	T	C	6: 73,169,659 (GRCm39)		probably benign	Het
Dnah7c	T	C	1: 46,634,168 (GRCm39)	L1049P	probably damaging	Het
Dnajc2	T	C	5: 21,962,338 (GRCm39)	K621E	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Erap1	A	G	13: 74,794,647 (GRCm39)	E102G	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxl20	T	C	11: 98,019,186 (GRCm39)	D22G	probably damaging	Het
Fgfr1	T	C	8: 26,053,542 (GRCm39)		probably null	Het
Frzb	A	T	2: 80,276,871 (GRCm39)	I105N	probably damaging	Het
Gabrb1	T	A	5: 72,026,764 (GRCm39)	F55Y	probably damaging	Het
Gatd1	G	T	7: 140,989,010 (GRCm39)	C216*	probably null	Het
Gnl2	A	C	4: 124,937,485 (GRCm39)	N255T	probably damaging	Het
Golgb1	A	T	16: 36,736,480 (GRCm39)	Q1909L	probably benign	Het
Gpnmb	T	C	6: 49,028,904 (GRCm39)	L474P	probably damaging	Het
H60b	T	C	10: 22,163,115 (GRCm39)	V230A	possibly damaging	Het
Hmcn2	T	A	2: 31,250,992 (GRCm39)	V818D	probably damaging	Het
Irag2	C	A	6: 145,111,027 (GRCm39)	S277R	probably damaging	Het
Itprid1	C	T	6: 55,955,175 (GRCm39)	P928S	possibly damaging	Het
Jade2	G	T	11: 51,707,909 (GRCm39)	T768K	probably benign	Het
Kif28	T	C	1: 179,530,085 (GRCm39)	H692R	probably benign	Het
Kmt2b	T	C	7: 30,277,942 (GRCm39)	N1634S	probably damaging	Het
Knop1	A	G	7: 118,445,299 (GRCm39)	W222R	probably damaging	Het
Map1b	T	C	13: 99,569,808 (GRCm39)	D971G	unknown	Het
Mapk7	G	T	11: 61,384,475 (GRCm39)	T77K	probably damaging	Het
Mcm6	A	G	1: 128,276,714 (GRCm39)	L292P	probably damaging	Het
Megf8	T	C	7: 25,039,089 (GRCm39)	L900P	probably benign	Het
Meis1	G	A	11: 18,831,776 (GRCm39)	H421Y	possibly damaging	Het
Minar2	A	T	18: 59,205,277 (GRCm39)	I22F	probably damaging	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mta1	T	A	12: 113,100,160 (GRCm39)	S657T	probably benign	Het
Mtus1	C	A	8: 41,453,838 (GRCm39)	K998N	probably damaging	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Ndufb7	T	C	8: 84,297,534 (GRCm39)	L63P	probably damaging	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Nos1	T	C	5: 118,085,635 (GRCm39)		probably null	Het
Nrp1	C	A	8: 129,229,285 (GRCm39)	S921*	probably null	Het
Oma1	T	C	4: 103,176,727 (GRCm39)		probably null	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Pcp2	T	A	8: 3,675,534 (GRCm39)		probably benign	Het
Pdk4	T	A	6: 5,489,157 (GRCm39)	H250L	possibly damaging	Het
Phldb3	A	G	7: 24,323,716 (GRCm39)	H449R	probably benign	Het
Pip4k2c	T	C	10: 127,035,196 (GRCm39)	T391A	possibly damaging	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Prkcg	T	G	7: 3,378,781 (GRCm39)	Y624*	probably null	Het
Psmg2	A	G	18: 67,781,926 (GRCm39)	E164G	probably damaging	Het
Rb1	A	T	14: 73,454,131 (GRCm39)	L589H	probably damaging	Het
Rcvrn	A	T	11: 67,586,591 (GRCm39)	I117F	probably damaging	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Robo2	A	G	16: 73,695,803 (GRCm39)	S1447P	possibly damaging	Het
Scfd2	C	A	5: 74,623,319 (GRCm39)	G405W	probably damaging	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Serpina3k	G	A	12: 104,309,269 (GRCm39)	V238M	probably damaging	Het
Slc1a6	G	A	10: 78,632,085 (GRCm39)	V304M	probably damaging	Het
Slc20a2	C	T	8: 23,051,020 (GRCm39)	S351L	probably damaging	Het
Slc31a2	T	C	4: 62,215,325 (GRCm39)	V124A	probably damaging	Het
Slc38a3	T	C	9: 107,533,426 (GRCm39)	N244S	probably benign	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slc6a5	T	C	7: 49,598,004 (GRCm39)	F623L	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Slfn8	G	A	11: 82,907,704 (GRCm39)	H280Y	probably damaging	Het
Smpdl3a	A	T	10: 57,677,127 (GRCm39)	D45V	probably damaging	Het
Ssh3	T	C	19: 4,315,170 (GRCm39)	E342G	probably damaging	Het
Tacr1	A	T	6: 82,531,922 (GRCm39)	I273F	probably benign	Het
Tfg	T	A	16: 56,514,759 (GRCm39)		probably null	Het
Tmem179	A	G	12: 112,468,268 (GRCm39)	L71P	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Traj20	G	A	14: 54,436,924 (GRCm39)		probably benign	Het
Trappc13	A	T	13: 104,290,802 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tulp1	A	G	17: 28,578,109 (GRCm39)	L310P	probably damaging	Het
Ube3d	A	G	9: 86,304,925 (GRCm39)	Y306H	probably damaging	Het
Urb1	A	T	16: 90,580,216 (GRCm39)	V649E	probably damaging	Het
Vwa5b1	T	A	4: 138,321,573 (GRCm39)	I407F	possibly damaging	Het
Vwce	G	T	19: 10,624,243 (GRCm39)	C378F	probably damaging	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het

Other mutations in Vps13d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Vps13d	APN	4	144,895,110 (GRCm39)	missense	probably damaging	0.98
IGL00484:Vps13d	APN	4	144,853,145 (GRCm39)	missense	probably benign	0.04
IGL00591:Vps13d	APN	4	144,917,129 (GRCm39)	missense	possibly damaging	0.95
IGL00816:Vps13d	APN	4	144,882,564 (GRCm39)	missense	probably benign	0.00
IGL00835:Vps13d	APN	4	144,887,222 (GRCm39)	missense	probably damaging	0.97
IGL00847:Vps13d	APN	4	144,811,978 (GRCm39)	missense	probably benign	0.26
IGL01084:Vps13d	APN	4	144,881,525 (GRCm39)	missense	probably benign	0.00
IGL01116:Vps13d	APN	4	144,699,320 (GRCm39)	unclassified	probably benign
IGL01150:Vps13d	APN	4	144,875,845 (GRCm39)	missense	probably benign
IGL01329:Vps13d	APN	4	144,882,776 (GRCm39)	missense	possibly damaging	0.69
IGL01338:Vps13d	APN	4	144,814,892 (GRCm39)	missense	probably damaging	1.00
IGL01583:Vps13d	APN	4	144,771,658 (GRCm39)	missense	probably damaging	1.00
IGL01598:Vps13d	APN	4	144,743,471 (GRCm39)	missense	probably benign	0.21
IGL01620:Vps13d	APN	4	144,821,437 (GRCm39)	missense	possibly damaging	0.70
IGL01636:Vps13d	APN	4	144,801,618 (GRCm39)	missense	probably damaging	1.00
IGL01723:Vps13d	APN	4	144,899,715 (GRCm39)	missense	possibly damaging	0.84
IGL01895:Vps13d	APN	4	144,882,836 (GRCm39)	missense	possibly damaging	0.57
IGL01981:Vps13d	APN	4	144,813,317 (GRCm39)	missense	probably damaging	0.99
IGL02192:Vps13d	APN	4	144,875,428 (GRCm39)	missense	probably benign	0.02
IGL02197:Vps13d	APN	4	144,854,879 (GRCm39)	missense	probably benign	0.01
IGL02209:Vps13d	APN	4	144,882,671 (GRCm39)	missense	probably damaging	0.97
IGL02219:Vps13d	APN	4	144,894,716 (GRCm39)	missense	probably benign	0.00
IGL02377:Vps13d	APN	4	144,882,934 (GRCm39)	missense	probably damaging	1.00
IGL02404:Vps13d	APN	4	144,875,305 (GRCm39)	missense	probably damaging	1.00
IGL02552:Vps13d	APN	4	144,899,707 (GRCm39)	missense	possibly damaging	0.46
IGL02651:Vps13d	APN	4	144,891,129 (GRCm39)	missense	probably benign	0.02
IGL02708:Vps13d	APN	4	144,854,850 (GRCm39)	missense	probably benign	0.12
IGL02811:Vps13d	APN	4	144,858,335 (GRCm39)	missense	possibly damaging	0.55
IGL02821:Vps13d	APN	4	144,875,332 (GRCm39)	missense	probably damaging	0.98
IGL02838:Vps13d	APN	4	144,801,595 (GRCm39)	missense	probably benign	0.31
IGL02968:Vps13d	APN	4	144,849,068 (GRCm39)	missense	probably benign	0.32
IGL03176:Vps13d	APN	4	144,801,533 (GRCm39)	missense	probably benign	0.16
IGL03352:Vps13d	APN	4	144,894,072 (GRCm39)	missense	possibly damaging	0.49
IGL03374:Vps13d	APN	4	144,835,145 (GRCm39)	missense	possibly damaging	0.70
IGL03375:Vps13d	APN	4	144,818,517 (GRCm39)	missense	probably damaging	1.00
IGL03383:Vps13d	APN	4	144,894,889 (GRCm39)	critical splice acceptor site	probably null
IGL03411:Vps13d	APN	4	144,875,894 (GRCm39)	missense	probably damaging	1.00
broken	UTSW	4	144,813,305 (GRCm39)	missense
demotion	UTSW	4	144,865,183 (GRCm39)	missense
BB008:Vps13d	UTSW	4	144,822,854 (GRCm39)	nonsense	probably null
BB018:Vps13d	UTSW	4	144,822,854 (GRCm39)	nonsense	probably null
PIT4283001:Vps13d	UTSW	4	144,835,158 (GRCm39)	missense
PIT4434001:Vps13d	UTSW	4	144,881,817 (GRCm39)	missense
R0069:Vps13d	UTSW	4	144,789,133 (GRCm39)	missense	probably benign	0.09
R0069:Vps13d	UTSW	4	144,789,133 (GRCm39)	missense	probably benign	0.09
R0076:Vps13d	UTSW	4	144,891,264 (GRCm39)	splice site	probably benign
R0211:Vps13d	UTSW	4	144,841,348 (GRCm39)	missense	probably benign	0.08
R0219:Vps13d	UTSW	4	144,832,479 (GRCm39)	missense	probably benign	0.01
R0284:Vps13d	UTSW	4	144,871,372 (GRCm39)	missense	probably benign	0.01
R0345:Vps13d	UTSW	4	144,844,195 (GRCm39)	missense	possibly damaging	0.81
R0400:Vps13d	UTSW	4	144,792,397 (GRCm39)	missense	probably benign	0.00
R0417:Vps13d	UTSW	4	144,703,130 (GRCm39)	missense	probably benign	0.19
R0538:Vps13d	UTSW	4	144,771,665 (GRCm39)	missense	probably damaging	1.00
R0560:Vps13d	UTSW	4	144,780,760 (GRCm39)	missense	probably damaging	1.00
R0627:Vps13d	UTSW	4	144,813,754 (GRCm39)	missense	probably damaging	1.00
R0707:Vps13d	UTSW	4	144,882,502 (GRCm39)	missense	probably damaging	1.00
R0782:Vps13d	UTSW	4	144,853,195 (GRCm39)	splice site	probably benign
R0925:Vps13d	UTSW	4	144,883,121 (GRCm39)	missense	probably damaging	1.00
R0993:Vps13d	UTSW	4	144,844,262 (GRCm39)	nonsense	probably null
R1135:Vps13d	UTSW	4	144,882,159 (GRCm39)	missense	probably benign	0.01
R1165:Vps13d	UTSW	4	144,853,041 (GRCm39)	missense	probably benign
R1263:Vps13d	UTSW	4	144,896,918 (GRCm39)	missense	probably benign	0.01
R1397:Vps13d	UTSW	4	144,867,904 (GRCm39)	missense	probably damaging	1.00
R1398:Vps13d	UTSW	4	144,826,553 (GRCm39)	missense	probably null
R1521:Vps13d	UTSW	4	144,832,431 (GRCm39)	missense	probably benign	0.00
R1522:Vps13d	UTSW	4	144,824,742 (GRCm39)	splice site	probably null
R1725:Vps13d	UTSW	4	144,869,830 (GRCm39)	missense	possibly damaging	0.90
R1759:Vps13d	UTSW	4	144,882,427 (GRCm39)	missense	probably benign
R1826:Vps13d	UTSW	4	144,881,573 (GRCm39)	missense	probably damaging	0.96
R1900:Vps13d	UTSW	4	144,853,176 (GRCm39)	missense	probably benign	0.23
R1943:Vps13d	UTSW	4	144,882,427 (GRCm39)	missense	probably benign
R1955:Vps13d	UTSW	4	144,882,713 (GRCm39)	missense	probably damaging	1.00
R2008:Vps13d	UTSW	4	144,881,813 (GRCm39)	missense	probably benign	0.00
R2013:Vps13d	UTSW	4	144,835,078 (GRCm39)	missense	probably damaging	0.99
R2014:Vps13d	UTSW	4	144,835,078 (GRCm39)	missense	probably damaging	0.99
R2038:Vps13d	UTSW	4	144,907,685 (GRCm39)	critical splice donor site	probably null
R2108:Vps13d	UTSW	4	144,801,617 (GRCm39)	missense	probably damaging	0.99
R2130:Vps13d	UTSW	4	144,882,671 (GRCm39)	missense	probably benign	0.17
R2134:Vps13d	UTSW	4	144,874,909 (GRCm39)	missense	probably benign	0.00
R2168:Vps13d	UTSW	4	144,813,893 (GRCm39)	splice site	probably benign
R2220:Vps13d	UTSW	4	144,904,890 (GRCm39)	missense	probably damaging	1.00
R2240:Vps13d	UTSW	4	144,837,465 (GRCm39)	missense	possibly damaging	0.70
R2332:Vps13d	UTSW	4	144,875,256 (GRCm39)	missense	probably benign
R2357:Vps13d	UTSW	4	144,801,547 (GRCm39)	frame shift	probably null
R2365:Vps13d	UTSW	4	144,813,894 (GRCm39)	splice site	probably benign
R2571:Vps13d	UTSW	4	144,875,706 (GRCm39)	missense	probably benign	0.20
R3149:Vps13d	UTSW	4	144,853,147 (GRCm39)	missense	possibly damaging	0.70
R3150:Vps13d	UTSW	4	144,813,360 (GRCm39)	missense	probably damaging	0.98
R3547:Vps13d	UTSW	4	144,801,545 (GRCm39)	missense	probably damaging	0.99
R3716:Vps13d	UTSW	4	144,802,296 (GRCm39)	missense	probably damaging	1.00
R3718:Vps13d	UTSW	4	144,802,296 (GRCm39)	missense	probably damaging	1.00
R3725:Vps13d	UTSW	4	144,842,218 (GRCm39)	splice site	probably benign
R3794:Vps13d	UTSW	4	144,812,007 (GRCm39)	splice site	probably benign
R3875:Vps13d	UTSW	4	144,917,114 (GRCm39)	missense	probably damaging	1.00
R3948:Vps13d	UTSW	4	144,867,910 (GRCm39)	missense	probably damaging	1.00
R3953:Vps13d	UTSW	4	144,875,450 (GRCm39)	missense	probably damaging	1.00
R4021:Vps13d	UTSW	4	144,801,631 (GRCm39)	missense	possibly damaging	0.90
R4323:Vps13d	UTSW	4	144,879,348 (GRCm39)	missense	probably benign	0.28
R4346:Vps13d	UTSW	4	144,799,099 (GRCm39)	intron	probably benign
R4509:Vps13d	UTSW	4	144,789,172 (GRCm39)	missense	probably damaging	1.00
R4613:Vps13d	UTSW	4	144,858,225 (GRCm39)	missense	possibly damaging	0.95
R4657:Vps13d	UTSW	4	144,801,412 (GRCm39)	missense	probably damaging	1.00
R4680:Vps13d	UTSW	4	144,835,080 (GRCm39)	missense	possibly damaging	0.94
R4688:Vps13d	UTSW	4	144,904,782 (GRCm39)	missense	probably benign
R4797:Vps13d	UTSW	4	144,780,725 (GRCm39)	missense	probably damaging	1.00
R4798:Vps13d	UTSW	4	144,904,626 (GRCm39)	missense	probably damaging	0.98
R4817:Vps13d	UTSW	4	144,795,735 (GRCm39)	missense	probably damaging	1.00
R4839:Vps13d	UTSW	4	144,812,000 (GRCm39)	missense	possibly damaging	0.95
R4860:Vps13d	UTSW	4	144,813,731 (GRCm39)	missense	probably benign
R4860:Vps13d	UTSW	4	144,813,731 (GRCm39)	missense	probably benign
R4869:Vps13d	UTSW	4	144,854,612 (GRCm39)	missense	probably damaging	1.00
R4904:Vps13d	UTSW	4	144,882,015 (GRCm39)	missense	probably damaging	1.00
R4912:Vps13d	UTSW	4	144,882,427 (GRCm39)	missense	probably benign
R4976:Vps13d	UTSW	4	144,832,468 (GRCm39)	missense	possibly damaging	0.82
R5029:Vps13d	UTSW	4	144,882,852 (GRCm39)	missense	probably benign	0.02
R5049:Vps13d	UTSW	4	144,813,336 (GRCm39)	missense	probably damaging	1.00
R5077:Vps13d	UTSW	4	144,814,811 (GRCm39)	missense	probably damaging	0.98
R5119:Vps13d	UTSW	4	144,832,468 (GRCm39)	missense	possibly damaging	0.82
R5227:Vps13d	UTSW	4	144,907,777 (GRCm39)	splice site	probably null
R5291:Vps13d	UTSW	4	144,789,139 (GRCm39)	missense	probably damaging	0.99
R5344:Vps13d	UTSW	4	144,904,904 (GRCm39)	missense	probably damaging	0.98
R5348:Vps13d	UTSW	4	144,792,459 (GRCm39)	missense	probably damaging	0.99
R5478:Vps13d	UTSW	4	144,894,120 (GRCm39)	missense	probably damaging	0.99
R5632:Vps13d	UTSW	4	144,801,452 (GRCm39)	missense	probably damaging	0.99
R5642:Vps13d	UTSW	4	144,896,872 (GRCm39)	missense	possibly damaging	0.66
R5712:Vps13d	UTSW	4	144,813,743 (GRCm39)	missense	probably benign	0.07
R5747:Vps13d	UTSW	4	144,894,853 (GRCm39)	missense	probably benign	0.00
R5752:Vps13d	UTSW	4	144,875,540 (GRCm39)	missense	probably benign	0.06
R5804:Vps13d	UTSW	4	144,826,640 (GRCm39)	missense	probably benign	0.03
R5917:Vps13d	UTSW	4	144,826,580 (GRCm39)	missense	probably damaging	0.96
R5932:Vps13d	UTSW	4	144,771,611 (GRCm39)	missense	possibly damaging	0.71
R5940:Vps13d	UTSW	4	144,801,545 (GRCm39)	missense	probably benign	0.09
R5978:Vps13d	UTSW	4	144,849,181 (GRCm39)	missense	probably benign
R6031:Vps13d	UTSW	4	144,895,079 (GRCm39)	missense	probably benign	0.01
R6031:Vps13d	UTSW	4	144,895,079 (GRCm39)	missense	probably benign	0.01
R6143:Vps13d	UTSW	4	144,875,135 (GRCm39)	missense	possibly damaging	0.95
R6174:Vps13d	UTSW	4	144,701,763 (GRCm39)	nonsense	probably null
R6191:Vps13d	UTSW	4	144,875,918 (GRCm39)	missense	probably damaging	1.00
R6198:Vps13d	UTSW	4	144,875,560 (GRCm39)	missense	probably benign	0.28
R6374:Vps13d	UTSW	4	144,849,251 (GRCm39)	missense	probably damaging	1.00
R6379:Vps13d	UTSW	4	144,814,828 (GRCm39)	missense	probably benign
R6388:Vps13d	UTSW	4	144,882,144 (GRCm39)	missense	probably benign	0.06
R6418:Vps13d	UTSW	4	144,818,850 (GRCm39)	missense	probably damaging	0.98
R6466:Vps13d	UTSW	4	144,784,065 (GRCm39)	missense	possibly damaging	0.47
R6602:Vps13d	UTSW	4	144,830,234 (GRCm39)	intron	probably benign
R6604:Vps13d	UTSW	4	144,907,694 (GRCm39)	missense	probably damaging	1.00
R7051:Vps13d	UTSW	4	144,889,914 (GRCm39)	missense	probably benign	0.00
R7052:Vps13d	UTSW	4	144,889,914 (GRCm39)	missense	probably benign	0.00
R7103:Vps13d	UTSW	4	144,842,062 (GRCm39)	missense
R7231:Vps13d	UTSW	4	144,784,032 (GRCm39)	missense
R7246:Vps13d	UTSW	4	144,882,620 (GRCm39)	missense
R7339:Vps13d	UTSW	4	144,847,938 (GRCm39)	missense
R7409:Vps13d	UTSW	4	144,867,824 (GRCm39)	missense
R7419:Vps13d	UTSW	4	144,842,073 (GRCm39)	missense
R7424:Vps13d	UTSW	4	144,875,317 (GRCm39)	missense
R7439:Vps13d	UTSW	4	144,832,426 (GRCm39)	missense
R7440:Vps13d	UTSW	4	144,854,981 (GRCm39)	missense
R7528:Vps13d	UTSW	4	144,818,492 (GRCm39)	missense
R7547:Vps13d	UTSW	4	144,784,108 (GRCm39)	missense
R7558:Vps13d	UTSW	4	144,881,150 (GRCm39)	missense
R7699:Vps13d	UTSW	4	144,811,975 (GRCm39)	missense
R7729:Vps13d	UTSW	4	144,801,622 (GRCm39)	missense
R7789:Vps13d	UTSW	4	144,826,635 (GRCm39)	missense
R7813:Vps13d	UTSW	4	144,904,633 (GRCm39)	nonsense	probably null
R7834:Vps13d	UTSW	4	144,835,143 (GRCm39)	missense
R7840:Vps13d	UTSW	4	144,830,246 (GRCm39)	missense
R7880:Vps13d	UTSW	4	144,907,684 (GRCm39)	critical splice donor site	probably null
R7912:Vps13d	UTSW	4	144,899,697 (GRCm39)	missense
R7915:Vps13d	UTSW	4	144,813,389 (GRCm39)	missense
R7931:Vps13d	UTSW	4	144,822,854 (GRCm39)	nonsense	probably null
R8021:Vps13d	UTSW	4	144,875,245 (GRCm39)	missense
R8048:Vps13d	UTSW	4	144,882,137 (GRCm39)	missense
R8057:Vps13d	UTSW	4	144,701,753 (GRCm39)	missense
R8063:Vps13d	UTSW	4	144,841,327 (GRCm39)	missense
R8131:Vps13d	UTSW	4	144,882,707 (GRCm39)	missense
R8190:Vps13d	UTSW	4	144,879,321 (GRCm39)	missense
R8226:Vps13d	UTSW	4	144,875,860 (GRCm39)	missense
R8241:Vps13d	UTSW	4	144,875,047 (GRCm39)	missense
R8254:Vps13d	UTSW	4	144,709,882 (GRCm39)	splice site	probably benign
R8305:Vps13d	UTSW	4	144,818,858 (GRCm39)	missense
R8415:Vps13d	UTSW	4	144,818,549 (GRCm39)	missense
R8460:Vps13d	UTSW	4	144,897,009 (GRCm39)	intron	probably benign
R8487:Vps13d	UTSW	4	144,881,817 (GRCm39)	missense	probably benign	0.11
R8543:Vps13d	UTSW	4	144,743,353 (GRCm39)	nonsense	probably null
R8679:Vps13d	UTSW	4	144,811,977 (GRCm39)	missense
R8716:Vps13d	UTSW	4	144,802,348 (GRCm39)	missense
R8749:Vps13d	UTSW	4	144,865,183 (GRCm39)	missense
R8772:Vps13d	UTSW	4	144,801,602 (GRCm39)	missense
R8788:Vps13d	UTSW	4	144,813,305 (GRCm39)	missense
R8789:Vps13d	UTSW	4	144,795,743 (GRCm39)	missense
R8836:Vps13d	UTSW	4	144,882,648 (GRCm39)	missense
R8874:Vps13d	UTSW	4	144,881,772 (GRCm39)	missense
R8918:Vps13d	UTSW	4	144,772,873 (GRCm39)	missense
R9129:Vps13d	UTSW	4	144,898,249 (GRCm39)	missense
R9220:Vps13d	UTSW	4	144,783,058 (GRCm39)	missense
R9233:Vps13d	UTSW	4	144,879,344 (GRCm39)	missense
R9234:Vps13d	UTSW	4	144,875,792 (GRCm39)	missense
R9256:Vps13d	UTSW	4	144,882,374 (GRCm39)	missense
R9350:Vps13d	UTSW	4	144,882,333 (GRCm39)	missense
R9398:Vps13d	UTSW	4	144,896,956 (GRCm39)	nonsense	probably null
R9415:Vps13d	UTSW	4	144,796,527 (GRCm39)	missense
R9438:Vps13d	UTSW	4	144,858,314 (GRCm39)	missense
R9469:Vps13d	UTSW	4	144,780,691 (GRCm39)	missense
R9487:Vps13d	UTSW	4	144,807,869 (GRCm39)	critical splice donor site	probably null
R9524:Vps13d	UTSW	4	144,822,814 (GRCm39)	missense
R9616:Vps13d	UTSW	4	144,824,701 (GRCm39)	missense
R9655:Vps13d	UTSW	4	144,813,305 (GRCm39)	missense
R9709:Vps13d	UTSW	4	144,875,915 (GRCm39)	missense
R9767:Vps13d	UTSW	4	144,879,306 (GRCm39)	missense
R9773:Vps13d	UTSW	4	144,818,619 (GRCm39)	missense
R9779:Vps13d	UTSW	4	144,798,972 (GRCm39)	missense
R9796:Vps13d	UTSW	4	144,854,505 (GRCm39)	critical splice donor site	probably null
X0021:Vps13d	UTSW	4	144,881,595 (GRCm39)	missense	probably damaging	0.99
Z1176:Vps13d	UTSW	4	144,833,637 (GRCm39)	missense
Z1177:Vps13d	UTSW	4	144,904,866 (GRCm39)	missense
Z1177:Vps13d	UTSW	4	144,881,478 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TTTAGTCTCTTCCAAGGGCTG -3'
(R):5'- GTCCAGTCTGAATCCACAGTG -3'

Sequencing Primer
(F):5'- AGTCTCTTCCAAGGGCTGTATCAG -3'
(R):5'- TCCACAGTGGGCATGTCATATAC -3'

Posted On

2016-04-15