Mutagenetix > Incidental Mutation

Incidental Mutation 'R1938:Vps13b'

213745

Institutional Source

Beutler Lab

Gene Symbol

Vps13b

Ensembl Gene

ENSMUSG00000037646

Gene Name

vacuolar protein sorting 13B

Synonyms

2310042E16Rik, 1810042B05Rik, Coh1, C330002D13Rik

MMRRC Submission

039956-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1938 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35371160-35931229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35709507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1867 (S1867P)

Ref Sequence

ENSEMBL: ENSMUSP00000045490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048646]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048646
AA Change: S1867P

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

SMART Domains

Protein: ENSMUSP00000045490
Gene: ENSMUSG00000037646
AA Change: S1867P

Domain	Start	End	E-Value	Type
Pfam:Chorein_N	2	120	1e-29	PFAM
low complexity region	128	137	N/A	INTRINSIC
low complexity region	143	160	N/A	INTRINSIC
low complexity region	975	984	N/A	INTRINSIC
low complexity region	1007	1018	N/A	INTRINSIC
low complexity region	1876	1883	N/A	INTRINSIC
low complexity region	2042	2054	N/A	INTRINSIC
low complexity region	2414	2423	N/A	INTRINSIC
Pfam:SHR-BD	2601	2700	8.4e-10	PFAM
low complexity region	2954	2964	N/A	INTRINSIC
Pfam:VPS13_C	3539	3706	2.6e-30	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 133 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,152,008	*453W	probably null	Het
Abcc8	T	C	7: 46,175,371	K134R	possibly damaging	Het
Adamts17	T	C	7: 67,125,072	S980P	probably damaging	Het
Adap2	T	A	11: 80,170,682	I221K	probably damaging	Het
Adgrv1	C	T	13: 81,391,757	R5681Q	probably damaging	Het
Adipor1	T	A	1: 134,423,103	L30Q	probably benign	Het
Agpat5	A	G	8: 18,878,165	T249A	probably benign	Het
Agxt2	G	T	15: 10,391,935	G329V	probably damaging	Het
Ankrd28	A	G	14: 31,705,276	V801A	possibly damaging	Het
Ap1g2	A	G	14: 55,099,772	V702A	possibly damaging	Het
Arid3a	A	G	10: 79,950,706	Q429R	probably damaging	Het
Arsb	T	A	13: 93,862,150	L322Q	probably damaging	Het
Ash1l	A	G	3: 88,984,422	T1203A	probably damaging	Het
Atad2	T	A	15: 58,096,705	N1308Y	possibly damaging	Het
Atp10b	A	T	11: 43,230,418	R969S	probably benign	Het
Bmp10	T	C	6: 87,433,720	I165T	possibly damaging	Het
Ccne1	A	G	7: 38,106,277		probably null	Het
Cenpe	A	G	3: 135,247,479	N1565D	probably damaging	Het
Chd1	A	T	17: 15,762,486	E1404D	probably benign	Het
Chd7	G	A	4: 8,847,200	E1648K	probably damaging	Het
Chodl	T	C	16: 78,941,426	I94T	possibly damaging	Het
Chsy3	T	C	18: 59,409,512	F574S	probably damaging	Het
Clpb	A	T	7: 101,763,656	I317F	probably damaging	Het
Cnga3	T	A	1: 37,261,873	V558D	possibly damaging	Het
Col9a1	C	T	1: 24,222,473	P573S	probably damaging	Het
Crat	A	T	2: 30,413,061	D71E	probably benign	Het
Cspg4	A	G	9: 56,887,101	T707A	probably benign	Het
Ctsr	T	A	13: 61,162,445	R132S	probably benign	Het
Ctu2	T	C	8: 122,479,285	L255P	probably damaging	Het
Cyp2c69	T	C	19: 39,849,366	Y424C	probably damaging	Het
Ddx27	A	T	2: 167,034,109	K726N	probably damaging	Het
Dennd4a	A	G	9: 64,842,490	Q121R	probably damaging	Het
Dis3	A	G	14: 99,097,590	F192S	probably benign	Het
Ect2l	C	T	10: 18,144,635	S487N	probably benign	Het
Eml1	T	A	12: 108,521,396	F524L	possibly damaging	Het
Espl1	T	C	15: 102,305,042	I601T	probably benign	Het
Fbxo40	C	A	16: 36,969,351	V466L	probably damaging	Het
Frmpd1	C	T	4: 45,283,711	T844M	probably damaging	Het
Frs2	T	A	10: 117,081,106		probably benign	Het
Fuom	G	T	7: 140,099,608	T133K	probably benign	Het
Garnl3	T	A	2: 33,005,200	H619L	probably damaging	Het
Gm4861	G	T	3: 137,552,115	N36K	unknown	Het
Gm6588	C	A	5: 112,449,801	C71*	probably null	Het
Gps2	G	T	11: 69,915,369	M153I	probably benign	Het
Gtf2ird1	A	G	5: 134,415,245	V52A	probably damaging	Het
Gtpbp8	A	T	16: 44,745,422	D137E	probably benign	Het
Haus4	A	G	14: 54,544,276	C213R	probably damaging	Het
Hdc	T	A	2: 126,606,397	H142L	possibly damaging	Het
Hephl1	T	C	9: 15,053,987	D1069G	possibly damaging	Het
Herc6	T	A	6: 57,625,941	V535D	probably damaging	Het
Hipk3	A	T	2: 104,430,188	H1082Q	possibly damaging	Het
Hps5	A	T	7: 46,773,267	V513D	probably damaging	Het
Ifna13	T	A	4: 88,644,175	I71F	probably damaging	Het
Il1rl2	T	C	1: 40,363,324	I426T	probably damaging	Het
Irf5	A	T	6: 29,536,739	D483V	probably benign	Het
Jakmip3	A	G	7: 139,020,138	R256G	probably damaging	Het
Jazf1	T	C	6: 52,777,615	I159V	probably damaging	Het
Kmo	A	G	1: 175,651,588	D230G	possibly damaging	Het
Lrrc74b	A	G	16: 17,553,194	V213A	probably benign	Het
Ly6g5b	T	C	17: 35,114,728	D36G	possibly damaging	Het
Macc1	T	G	12: 119,445,731	L78R	probably damaging	Het
Mettl4	A	T	17: 94,747,857	D51E	possibly damaging	Het
Mfap1a	G	A	2: 121,502,354	L199F	possibly damaging	Het
Mmp17	G	T	5: 129,602,126	R363L	probably damaging	Het
Mrc1	G	A	2: 14,319,241	A1130T	possibly damaging	Het
Mrpl15	C	T	1: 4,777,582	A165T	probably damaging	Het
Mrpl45	G	A	11: 97,315,944		probably null	Het
Ms4a3	C	T	19: 11,635,840	A85T	possibly damaging	Het
Mttp	A	T	3: 138,125,121	D77E	probably benign	Het
Muc6	A	G	7: 141,637,098	L2489P	probably damaging	Het
Myl3	G	A	9: 110,766,734	E100K	probably damaging	Het
Nbea	T	A	3: 56,085,322	N288Y	probably damaging	Het
Ncoa7	A	G	10: 30,698,170	V181A	probably benign	Het
Oat	C	T	7: 132,558,205	V429M	probably benign	Het
Olfr1152	G	A	2: 87,868,461	V157I	probably benign	Het
Olfr1163	A	T	2: 88,070,956	L142Q	probably damaging	Het
Olfr1269	T	G	2: 90,119,083	I172L	probably damaging	Het
Olfr285	T	A	15: 98,313,380	M57L	probably damaging	Het
Olfr319	A	T	11: 58,702,623	*307C	probably null	Het
Olfr508	T	C	7: 108,630,838	I282T	probably benign	Het
Olfr524	A	G	7: 140,202,231	F180L	probably benign	Het
Olfr810	T	A	10: 129,790,890	K233M	probably damaging	Het
Olfr922	A	G	9: 38,815,850	T116A	probably benign	Het
Oraov1	A	G	7: 144,916,468	S45G	probably damaging	Het
Otof	A	G	5: 30,376,369	S1464P	probably benign	Het
Otogl	A	T	10: 107,777,575	Y2010N	probably damaging	Het
Pgap3	C	T	11: 98,400,214		probably null	Het
Pgbd5	T	A	8: 124,374,249	K332*	probably null	Het
Pgs1	C	T	11: 118,005,727	P410L	probably damaging	Het
Pkhd1l1	G	A	15: 44,500,038	S618N	probably benign	Het
Plcb1	A	T	2: 135,386,302	D1073V	probably damaging	Het
Pola2	T	A	19: 5,951,180	T309S	probably benign	Het
Polg2	T	A	11: 106,778,961	H161L	probably damaging	Het
Postn	T	A	3: 54,377,612		probably null	Het
Ppt1	G	T	4: 122,845,991	C128F	probably damaging	Het
Ptpn12	G	A	5: 20,993,263	P678S	probably damaging	Het
Rcan3	A	T	4: 135,412,501		probably null	Het
Rgs22	T	C	15: 36,101,804	N216S	probably benign	Het
Rgs7bp	T	A	13: 104,951,582	D228V	probably damaging	Het
Rhobtb2	A	T	14: 69,796,613	S388T	probably benign	Het
Rnps1	C	T	17: 24,420,390	R138C	unknown	Het
Rpl38	T	C	11: 114,671,776	V36A	probably benign	Het
Rps7	G	T	12: 28,631,753	H126Q	possibly damaging	Het
Sec24b	G	T	3: 129,991,361	Q999K	possibly damaging	Het
Slc19a3	A	G	1: 83,019,368	V373A	possibly damaging	Het
Spats2l	T	A	1: 57,885,782	V113E	probably benign	Het
Ss18l1	A	T	2: 180,063,345	T377S	unknown	Het
Surf1	A	G	2: 26,915,970	F38L	probably benign	Het
Ticrr	G	A	7: 79,675,394	R556H	probably damaging	Het
Tmem184b	A	G	15: 79,365,814	S254P	probably damaging	Het
Tnfrsf4	G	T	4: 156,016,235	R237L	possibly damaging	Het
Tnk2	C	A	16: 32,663,742		probably benign	Het
Tnks	A	T	8: 34,838,530	D1191E	probably damaging	Het
Tnr	C	A	1: 159,895,037	Y1017*	probably null	Het
Tomm34	A	G	2: 164,061,006	I128T	probably benign	Het
Trim2	G	A	3: 84,177,792	S540F	possibly damaging	Het
Trio	A	T	15: 27,732,891	I2968N	probably damaging	Het
Ttc24	T	C	3: 88,074,874	E17G	probably benign	Het
Ttc41	A	G	10: 86,776,214	H1117R	probably benign	Het
Ttn	A	T	2: 76,735,408	V28200D	probably damaging	Het
Ttn	A	T	2: 76,762,386	S20801T	possibly damaging	Het
Ube2cbp	C	T	9: 86,448,787	C114Y	probably damaging	Het
Ugt2b37	A	C	5: 87,240,857	L499R	probably damaging	Het
Vmn1r81	T	C	7: 12,260,662	I6M	possibly damaging	Het
Vmn2r97	A	T	17: 18,929,331	Y327F	probably benign	Het
Wdr11	T	C	7: 129,606,607	V362A	probably benign	Het
Zan	T	A	5: 137,388,939	M4951L	unknown	Het
Zcwpw1	T	A	5: 137,811,622	L337Q	probably damaging	Het
Zfp2	A	T	11: 50,899,982	D411E	possibly damaging	Het
Zfp628	C	T	7: 4,920,768	T663I	probably benign	Het
Zfpm1	T	A	8: 122,334,924		probably null	Het
Zfyve19	T	C	2: 119,211,212	S87P	probably benign	Het
Zswim9	T	A	7: 13,260,214	K672*	probably null	Het

Other mutations in Vps13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Vps13b	APN	15	35926226	missense	possibly damaging	0.52
IGL00513:Vps13b	APN	15	35793884	missense	probably damaging	1.00
IGL00516:Vps13b	APN	15	35640557	missense	probably damaging	1.00
IGL00640:Vps13b	APN	15	35417577	missense	probably benign
IGL00753:Vps13b	APN	15	35372031	missense	probably damaging	0.99
IGL00784:Vps13b	APN	15	35846900	missense	probably damaging	1.00
IGL01138:Vps13b	APN	15	35446770	splice site	probably benign
IGL01349:Vps13b	APN	15	35793945	missense	probably benign	0.00
IGL01403:Vps13b	APN	15	35709479	missense	probably benign	0.00
IGL01535:Vps13b	APN	15	35454957	missense	possibly damaging	0.67
IGL01571:Vps13b	APN	15	35877489	splice site	probably benign
IGL01642:Vps13b	APN	15	35792072	missense	probably benign	0.43
IGL01658:Vps13b	APN	15	35671333	missense	probably damaging	0.99
IGL01759:Vps13b	APN	15	35878789	missense	probably damaging	1.00
IGL01763:Vps13b	APN	15	35709799	missense	possibly damaging	0.72
IGL01906:Vps13b	APN	15	35639847	splice site	probably benign
IGL01982:Vps13b	APN	15	35438904	nonsense	probably null
IGL01997:Vps13b	APN	15	35709224	missense	probably damaging	1.00
IGL02041:Vps13b	APN	15	35423245	missense	probably damaging	0.98
IGL02073:Vps13b	APN	15	35875586	missense	possibly damaging	0.52
IGL02077:Vps13b	APN	15	35910613	missense	possibly damaging	0.68
IGL02141:Vps13b	APN	15	35572081	missense	probably benign	0.09
IGL02146:Vps13b	APN	15	35646333	missense	probably benign	0.36
IGL02197:Vps13b	APN	15	35930056	missense	probably benign	0.02
IGL02311:Vps13b	APN	15	35709514	missense	probably benign	0.08
IGL02466:Vps13b	APN	15	35770741	missense	possibly damaging	0.86
IGL02506:Vps13b	APN	15	35917162	missense	probably damaging	1.00
IGL02550:Vps13b	APN	15	35572096	missense	probably benign
IGL02553:Vps13b	APN	15	35646301	missense	probably benign	0.00
IGL02674:Vps13b	APN	15	35639958	missense	probably benign	0.41
IGL02690:Vps13b	APN	15	35917142	missense	probably damaging	1.00
IGL02731:Vps13b	APN	15	35917128	missense	probably benign	0.00
IGL02739:Vps13b	APN	15	35879900	missense	probably damaging	1.00
IGL02868:Vps13b	APN	15	35884519	missense	probably benign	0.03
IGL03081:Vps13b	APN	15	35875820	missense	probably damaging	0.97
IGL03178:Vps13b	APN	15	35869300	missense	probably damaging	1.00
IGL03343:Vps13b	APN	15	35917170	missense	possibly damaging	0.76
IGL03407:Vps13b	APN	15	35639866	missense	possibly damaging	0.95
IGL03410:Vps13b	APN	15	35910340	missense	probably benign
omlette	UTSW	15	35671400	missense	probably benign	0.13
swiss	UTSW	15	35709673	missense	possibly damaging	0.80
FR4449:Vps13b	UTSW	15	35846957	missense	probably damaging	1.00
FR4548:Vps13b	UTSW	15	35846957	missense	probably damaging	1.00
FR4737:Vps13b	UTSW	15	35846957	missense	probably damaging	1.00
FR4976:Vps13b	UTSW	15	35846957	missense	probably damaging	1.00
LCD18:Vps13b	UTSW	15	35846957	missense	probably damaging	1.00
PIT4531001:Vps13b	UTSW	15	35878825	missense	probably damaging	1.00
PIT4581001:Vps13b	UTSW	15	35534263	missense	probably damaging	1.00
PIT4618001:Vps13b	UTSW	15	35709240	missense	probably damaging	1.00
R0026:Vps13b	UTSW	15	35923301	missense	possibly damaging	0.62
R0026:Vps13b	UTSW	15	35923301	missense	possibly damaging	0.62
R0108:Vps13b	UTSW	15	35572119	missense	probably benign	0.20
R0109:Vps13b	UTSW	15	35572119	missense	probably benign	0.20
R0109:Vps13b	UTSW	15	35572119	missense	probably benign	0.20
R0116:Vps13b	UTSW	15	35423155	missense	probably damaging	0.99
R0123:Vps13b	UTSW	15	35887261	missense	probably benign	0.01
R0124:Vps13b	UTSW	15	35576528	critical splice donor site	probably null
R0134:Vps13b	UTSW	15	35887261	missense	probably benign	0.01
R0137:Vps13b	UTSW	15	35926219	missense	probably benign	0.06
R0195:Vps13b	UTSW	15	35471899	missense	probably benign	0.00
R0225:Vps13b	UTSW	15	35887261	missense	probably benign	0.01
R0320:Vps13b	UTSW	15	35674828	missense	probably damaging	0.98
R0333:Vps13b	UTSW	15	35879803	missense	probably damaging	1.00
R0336:Vps13b	UTSW	15	35455133	nonsense	probably null
R0463:Vps13b	UTSW	15	35597409	missense	probably damaging	0.98
R0466:Vps13b	UTSW	15	35445602	nonsense	probably null
R0472:Vps13b	UTSW	15	35417633	critical splice donor site	probably null
R0523:Vps13b	UTSW	15	35472050	missense	probably benign	0.20
R0602:Vps13b	UTSW	15	35422368	missense	probably damaging	1.00
R0612:Vps13b	UTSW	15	35623657	missense	probably benign	0.12
R0627:Vps13b	UTSW	15	35371999	nonsense	probably null
R0679:Vps13b	UTSW	15	35709703	missense	possibly damaging	0.73
R0742:Vps13b	UTSW	15	35794361	missense	probably benign	0.22
R1053:Vps13b	UTSW	15	35652363	missense	probably damaging	1.00
R1355:Vps13b	UTSW	15	35422454	missense	probably damaging	1.00
R1386:Vps13b	UTSW	15	35923312	missense	probably damaging	0.99
R1403:Vps13b	UTSW	15	35709122	splice site	probably benign
R1453:Vps13b	UTSW	15	35422444	missense	probably damaging	0.97
R1464:Vps13b	UTSW	15	35709484	missense	probably benign	0.14
R1464:Vps13b	UTSW	15	35709484	missense	probably benign	0.14
R1511:Vps13b	UTSW	15	35839975	missense	probably damaging	0.99
R1511:Vps13b	UTSW	15	35841573	missense	probably benign	0.00
R1513:Vps13b	UTSW	15	35438730	nonsense	probably null
R1536:Vps13b	UTSW	15	35875566	missense	probably damaging	0.98
R1537:Vps13b	UTSW	15	35792181	missense	possibly damaging	0.62
R1558:Vps13b	UTSW	15	35534319	missense	probably damaging	1.00
R1601:Vps13b	UTSW	15	35642436	missense	probably benign	0.11
R1653:Vps13b	UTSW	15	35607272	nonsense	probably null
R1695:Vps13b	UTSW	15	35576521	missense	probably benign	0.05
R1760:Vps13b	UTSW	15	35884619	missense	possibly damaging	0.54
R1785:Vps13b	UTSW	15	35879791	missense	probably damaging	1.00
R1786:Vps13b	UTSW	15	35879791	missense	probably damaging	1.00
R1803:Vps13b	UTSW	15	35430205	nonsense	probably null
R1804:Vps13b	UTSW	15	35917137	missense	probably damaging	1.00
R1808:Vps13b	UTSW	15	35792059	missense	probably benign	0.00
R1817:Vps13b	UTSW	15	35910642	missense	possibly damaging	0.86
R1818:Vps13b	UTSW	15	35877577	missense	probably benign	0.00
R1836:Vps13b	UTSW	15	35910232	missense	probably damaging	0.99
R1850:Vps13b	UTSW	15	35674959	splice site	probably benign
R1884:Vps13b	UTSW	15	35430291	splice site	probably benign
R1955:Vps13b	UTSW	15	35925408	critical splice donor site	probably null
R1956:Vps13b	UTSW	15	35869407	missense	probably damaging	1.00
R1958:Vps13b	UTSW	15	35878689	missense	probably damaging	0.99
R2013:Vps13b	UTSW	15	35607142	missense	probably damaging	0.99
R2014:Vps13b	UTSW	15	35607142	missense	probably damaging	0.99
R2015:Vps13b	UTSW	15	35607142	missense	probably damaging	0.99
R2038:Vps13b	UTSW	15	35884741	missense	probably damaging	1.00
R2058:Vps13b	UTSW	15	35841447	missense	probably damaging	1.00
R2082:Vps13b	UTSW	15	35910746	missense	possibly damaging	0.70
R2087:Vps13b	UTSW	15	35597493	missense	probably damaging	0.99
R2124:Vps13b	UTSW	15	35646080	missense	probably benign	0.08
R2130:Vps13b	UTSW	15	35671400	missense	probably benign	0.13
R2168:Vps13b	UTSW	15	35792188	missense	probably damaging	1.00
R2168:Vps13b	UTSW	15	35792189	missense	probably damaging	1.00
R2171:Vps13b	UTSW	15	35887197	missense	probably benign	0.44
R2221:Vps13b	UTSW	15	35884597	missense	probably benign
R2263:Vps13b	UTSW	15	35646181	missense	probably benign	0.02
R2289:Vps13b	UTSW	15	35572105	missense	probably damaging	1.00
R2316:Vps13b	UTSW	15	35674899	nonsense	probably null
R2351:Vps13b	UTSW	15	35869311	missense	probably damaging	1.00
R2512:Vps13b	UTSW	15	35884555	missense	probably benign	0.35
R3054:Vps13b	UTSW	15	35646361	missense	probably damaging	0.99
R3055:Vps13b	UTSW	15	35646361	missense	probably damaging	0.99
R3196:Vps13b	UTSW	15	35869395	missense	probably damaging	1.00
R3236:Vps13b	UTSW	15	35910304	missense	probably benign	0.40
R3404:Vps13b	UTSW	15	35926054	missense	probably damaging	1.00
R3722:Vps13b	UTSW	15	35671382	missense	probably damaging	0.99
R4077:Vps13b	UTSW	15	35455128	missense	probably damaging	0.99
R4153:Vps13b	UTSW	15	35792027	splice site	probably null
R4224:Vps13b	UTSW	15	35876419	missense	probably damaging	0.99
R4408:Vps13b	UTSW	15	35709294	missense	probably damaging	0.98
R4431:Vps13b	UTSW	15	35770753	missense	probably damaging	1.00
R4449:Vps13b	UTSW	15	35876793	missense	possibly damaging	0.86
R4508:Vps13b	UTSW	15	35709673	missense	possibly damaging	0.80
R4631:Vps13b	UTSW	15	35646132	missense	possibly damaging	0.95
R4655:Vps13b	UTSW	15	35770689	missense	probably benign
R4666:Vps13b	UTSW	15	35640544	missense	probably benign	0.13
R4684:Vps13b	UTSW	15	35646178	missense	probably damaging	0.98
R4684:Vps13b	UTSW	15	35841341	missense	probably benign
R4684:Vps13b	UTSW	15	35879821	missense	probably benign
R4721:Vps13b	UTSW	15	35910718	nonsense	probably null
R4771:Vps13b	UTSW	15	35910800	missense	probably damaging	1.00
R4830:Vps13b	UTSW	15	35452224	missense	possibly damaging	0.94
R4835:Vps13b	UTSW	15	35869372	missense	probably damaging	1.00
R4835:Vps13b	UTSW	15	35910293	missense	probably benign
R4857:Vps13b	UTSW	15	35456654	missense	probably benign	0.01
R4891:Vps13b	UTSW	15	35640515	splice site	probably null
R5095:Vps13b	UTSW	15	35923202	missense	probably damaging	1.00
R5110:Vps13b	UTSW	15	35770809	missense	probably damaging	0.99
R5147:Vps13b	UTSW	15	35456678	missense	probably benign	0.32
R5153:Vps13b	UTSW	15	35422453	missense	probably damaging	0.99
R5257:Vps13b	UTSW	15	35794421	missense	possibly damaging	0.75
R5258:Vps13b	UTSW	15	35794421	missense	possibly damaging	0.75
R5296:Vps13b	UTSW	15	35876413	missense	probably damaging	1.00
R5386:Vps13b	UTSW	15	35640528	critical splice acceptor site	probably null
R5396:Vps13b	UTSW	15	35886948	missense	probably damaging	0.99
R5412:Vps13b	UTSW	15	35533385	missense	probably damaging	1.00
R5488:Vps13b	UTSW	15	35770542	missense	probably benign
R5489:Vps13b	UTSW	15	35770542	missense	probably benign
R5503:Vps13b	UTSW	15	35452166	missense	probably damaging	0.97
R5575:Vps13b	UTSW	15	35929919	missense	probably damaging	1.00
R5781:Vps13b	UTSW	15	35794035	missense	probably damaging	0.97
R5872:Vps13b	UTSW	15	35869351	missense	possibly damaging	0.56
R5876:Vps13b	UTSW	15	35917061	missense	probably damaging	0.99
R5994:Vps13b	UTSW	15	35875772	missense	probably damaging	1.00
R6031:Vps13b	UTSW	15	35471968	missense	probably damaging	1.00
R6031:Vps13b	UTSW	15	35471968	missense	probably damaging	1.00
R6045:Vps13b	UTSW	15	35671316	missense	probably damaging	0.99
R6143:Vps13b	UTSW	15	35668738	missense	probably damaging	0.99
R6147:Vps13b	UTSW	15	35930031	missense	probably benign	0.16
R6218:Vps13b	UTSW	15	35770464	missense	probably benign	0.00
R6447:Vps13b	UTSW	15	35572126	missense	probably benign	0.02
R6555:Vps13b	UTSW	15	35846847	missense	probably damaging	1.00
R6578:Vps13b	UTSW	15	35446101	missense	probably damaging	0.99
R6640:Vps13b	UTSW	15	35617696	missense	possibly damaging	0.93
R6645:Vps13b	UTSW	15	35910305	missense	probably benign	0.25
R6711:Vps13b	UTSW	15	35887249	missense	probably damaging	1.00
R6727:Vps13b	UTSW	15	35770683	missense	probably benign	0.19
R6737:Vps13b	UTSW	15	35910611	missense	probably damaging	1.00
R6844:Vps13b	UTSW	15	35877590	missense	probably benign	0.06
R6849:Vps13b	UTSW	15	35905309	missense	probably damaging	1.00
R6861:Vps13b	UTSW	15	35576395	missense	probably damaging	0.99
R6938:Vps13b	UTSW	15	35423198	missense	probably damaging	0.99
R6943:Vps13b	UTSW	15	35448689	missense	possibly damaging	0.95
R6989:Vps13b	UTSW	15	35448581	missense	probably benign	0.02
R7092:Vps13b	UTSW	15	35640634	missense	probably damaging	1.00
R7232:Vps13b	UTSW	15	35877557	missense	probably damaging	1.00
R7307:Vps13b	UTSW	15	35841545	missense	probably benign
R7400:Vps13b	UTSW	15	35378900	missense	probably damaging	1.00
R7414:Vps13b	UTSW	15	35910827	missense	probably damaging	1.00
R7497:Vps13b	UTSW	15	35876697	missense	probably benign	0.38
R7500:Vps13b	UTSW	15	35910524	missense	possibly damaging	0.74
R7603:Vps13b	UTSW	15	35576439	missense	probably damaging	0.98
R7605:Vps13b	UTSW	15	35770646	missense	probably damaging	0.97
R7849:Vps13b	UTSW	15	35423232	missense	probably damaging	0.99
R7984:Vps13b	UTSW	15	35879913	missense	probably benign
R8094:Vps13b	UTSW	15	35668906	critical splice donor site	probably null
R8097:Vps13b	UTSW	15	35709346	missense	probably benign	0.38
R8131:Vps13b	UTSW	15	35372109	critical splice donor site	probably null
R8139:Vps13b	UTSW	15	35607272	nonsense	probably null
R8174:Vps13b	UTSW	15	35709310	nonsense	probably null
R8225:Vps13b	UTSW	15	35794382	missense	probably damaging	0.99
R8239:Vps13b	UTSW	15	35597404	missense	probably damaging	1.00
R8244:Vps13b	UTSW	15	35917203	missense	probably damaging	1.00
R8303:Vps13b	UTSW	15	35639917	missense	probably damaging	1.00
R8311:Vps13b	UTSW	15	35886954	missense	probably benign	0.37
R8443:Vps13b	UTSW	15	35455100	missense	probably benign
R8494:Vps13b	UTSW	15	35422448	missense	probably damaging	0.99
R8499:Vps13b	UTSW	15	35841320	missense	probably damaging	1.00
R8506:Vps13b	UTSW	15	35446745	missense	probably benign	0.31
R8559:Vps13b	UTSW	15	35876642	missense	probably damaging	1.00
R8686:Vps13b	UTSW	15	35925389	missense	probably damaging	0.99
R8782:Vps13b	UTSW	15	35422337	missense	possibly damaging	0.93
R8806:Vps13b	UTSW	15	35472066	critical splice donor site	probably benign
R8824:Vps13b	UTSW	15	35533299	missense	probably damaging	0.99
R9024:Vps13b	UTSW	15	35923324	missense	probably damaging	0.97
R9038:Vps13b	UTSW	15	35875785	missense	possibly damaging	0.70
R9054:Vps13b	UTSW	15	35422391	missense	probably damaging	1.00
R9091:Vps13b	UTSW	15	35770773	missense	probably benign	0.13
R9129:Vps13b	UTSW	15	35448647	missense	probably damaging	1.00
R9214:Vps13b	UTSW	15	35623746	missense	probably damaging	0.99
R9237:Vps13b	UTSW	15	35841333	missense	probably damaging	1.00
R9256:Vps13b	UTSW	15	35623779	missense	possibly damaging	0.95
R9270:Vps13b	UTSW	15	35770773	missense	probably benign	0.13
R9279:Vps13b	UTSW	15	35572144	missense	probably damaging	0.97
R9291:Vps13b	UTSW	15	35846913	missense	probably damaging	1.00
R9342:Vps13b	UTSW	15	35455054	missense	possibly damaging	0.94
R9404:Vps13b	UTSW	15	35876419	missense	probably damaging	1.00
R9488:Vps13b	UTSW	15	35447734	missense	possibly damaging	0.77
R9509:Vps13b	UTSW	15	35841311	missense	possibly damaging	0.79
R9610:Vps13b	UTSW	15	35642409	missense	possibly damaging	0.85
R9611:Vps13b	UTSW	15	35642409	missense	possibly damaging	0.85
R9658:Vps13b	UTSW	15	35623628	missense	probably benign	0.00
R9674:Vps13b	UTSW	15	35607234	missense	probably damaging	0.98
R9696:Vps13b	UTSW	15	35674887	missense	possibly damaging	0.56
R9767:Vps13b	UTSW	15	35910257	missense	probably damaging	1.00
R9797:Vps13b	UTSW	15	35674876	missense	probably damaging	1.00
RF020:Vps13b	UTSW	15	35925406	missense	probably null	1.00
X0026:Vps13b	UTSW	15	35910646	missense	probably damaging	1.00
X0028:Vps13b	UTSW	15	35709431	missense	probably benign	0.00
Z1177:Vps13b	UTSW	15	35668885	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTCTCACCAGTCGTCAATTGTG -3'
(R):5'- GCTGGGACACAATCAAATGG -3'

Sequencing Primer
(F):5'- CACCAGTCGTCAATTGTGAAAAATC -3'
(R):5'- ACAGGTCTAGTTCTAAGTCACCGG -3'

Posted On

2014-07-14