Mutagenetix > Incidental Mutations

Incidental Mutation 'R1711:Rubcn'

190621

Institutional Source

Beutler Lab

Gene Symbol

Rubcn

Ensembl Gene

ENSMUSG00000035629

Gene Name

RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein

Synonyms

1700021K19Rik

MMRRC Submission

039744-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R1711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32821703-32877766 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32843101 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 388 (R388S)

Ref Sequence

ENSEMBL: ENSMUSP00000155943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040986] [ENSMUST00000089684] [ENSMUST00000115105] [ENSMUST00000119810] [ENSMUST00000231478] [ENSMUST00000232269]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040986
AA Change: R388S

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

SMART Domains

Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629
AA Change: R388S

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
RUN	123	183	1.67e-15	SMART
low complexity region	230	254	N/A	INTRINSIC
low complexity region	339	371	N/A	INTRINSIC
Blast:DUF4206	469	687	1e-66	BLAST
DUF4206	706	908	1.66e-113	SMART
low complexity region	915	941	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000089684
AA Change: R388S

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

SMART Domains

Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629
AA Change: R388S

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
RUN	123	183	1.67e-15	SMART
low complexity region	230	254	N/A	INTRINSIC
low complexity region	339	371	N/A	INTRINSIC
Blast:DUF4206	484	702	1e-66	BLAST
DUF4206	721	923	1.66e-113	SMART
low complexity region	930	956	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115105
AA Change: R374S

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

SMART Domains

Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629
AA Change: R374S

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
RUN	123	183	1.67e-15	SMART
low complexity region	230	254	N/A	INTRINSIC
low complexity region	340	357	N/A	INTRINSIC
Blast:DUF4206	455	673	1e-66	BLAST
DUF4206	692	894	1.66e-113	SMART
low complexity region	901	927	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119810
AA Change: R327S

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

SMART Domains

Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629
AA Change: R327S

Domain	Start	End	E-Value	Type
RUN	62	122	1.67e-15	SMART
low complexity region	169	193	N/A	INTRINSIC
low complexity region	278	310	N/A	INTRINSIC
Blast:DUF4206	408	626	6e-67	BLAST
DUF4206	645	847	1.66e-113	SMART
low complexity region	854	880	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135480

Predicted Effect

probably damaging
Transcript: ENSMUST00000231478
AA Change: R388S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232269
AA Change: R388S

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

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 is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,269,920	T741I	possibly damaging	Het
Acot3	A	T	12: 84,053,573	Q41L	probably damaging	Het
Actl7b	G	A	4: 56,740,165	Q398*	probably null	Het
Adgrb2	C	A	4: 129,992,624	Q186K	probably damaging	Het
Akr1a1	A	G	4: 116,637,974		probably null	Het
Ap3s2	A	T	7: 79,880,490	F192L	probably damaging	Het
Apobr	T	G	7: 126,584,979		probably null	Het
Arhgap5	A	G	12: 52,519,345	N1033S	probably damaging	Het
Arid3c	G	T	4: 41,725,947	R219S	probably damaging	Het
Bves	C	T	10: 45,347,865	T207M	probably damaging	Het
C330027C09Rik	A	C	16: 49,017,486	I850L	probably benign	Het
Cacna1d	T	C	14: 30,066,056	K1619R	probably damaging	Het
Caps2	A	T	10: 112,190,978	D223V	possibly damaging	Het
Cd163l1	G	T	7: 140,220,609	C101F	probably damaging	Het
Cd3g	A	C	9: 44,974,342	L35R	probably damaging	Het
Cdh23	A	T	10: 60,523,536	V261E	probably benign	Het
Cfap54	T	G	10: 93,011,020	T1028P	possibly damaging	Het
Ch25h	C	A	19: 34,474,286	V281L	probably benign	Het
Clu	G	T	14: 65,980,905	V405L	possibly damaging	Het
Col6a3	A	T	1: 90,830,213	H6Q	probably damaging	Het
Cps1	G	A	1: 67,168,374		probably null	Het
Ctr9	T	C	7: 111,055,663	S1134P	unknown	Het
Cts7	C	T	13: 61,352,810	G308S	probably damaging	Het
Cyp2c39	C	A	19: 39,566,891	T385K	probably damaging	Het
Dennd5a	A	T	7: 109,918,712	D596E	probably benign	Het
Disc1	T	A	8: 125,124,610	I413K	probably benign	Het
Dll3	C	T	7: 28,294,497	G505D	probably damaging	Het
Dnah3	A	G	7: 120,078,571	W377R	probably damaging	Het
Dopey2	A	G	16: 93,799,926	D1792G	probably damaging	Het
Dpep3	T	A	8: 105,973,693	R460S	probably benign	Het
Ebf4	A	G	2: 130,358,831	N302S	probably damaging	Het
Egflam	T	C	15: 7,289,915	E194G	possibly damaging	Het
Ep400	A	T	5: 110,693,308		probably benign	Het
Ercc6	T	C	14: 32,526,176	M228T	probably damaging	Het
Fbxo9	T	C	9: 78,087,247	T264A	probably damaging	Het
Fcrl5	C	A	3: 87,457,414	P486T	possibly damaging	Het
Fyb	T	C	15: 6,580,479	F178L	probably damaging	Het
Gaa	T	A	11: 119,280,460	I646N	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gm13124	A	T	4: 144,555,406	I272K	probably damaging	Het
Gm5431	A	T	11: 48,895,026	V174E	possibly damaging	Het
Gnpat	T	G	8: 124,886,952		probably null	Het
Gucy1a2	G	T	9: 3,759,622	R476I	probably benign	Het
Hars	A	G	18: 36,771,103	L241P	probably damaging	Het
Haus5	G	A	7: 30,657,903	Q399*	probably null	Het
Hephl1	T	C	9: 15,059,246	E984G	probably damaging	Het
Hmces	C	T	6: 87,921,592	Q132*	probably null	Het
Hsp90b1	G	T	10: 86,694,525	T490K	probably damaging	Het
Idh2	T	G	7: 80,099,158	E125A	probably damaging	Het
Ipo13	G	T	4: 117,904,522	H465Q	probably benign	Het
Isca2	C	A	12: 84,773,619	T31K	probably damaging	Het
Itga9	T	C	9: 118,698,461	V560A	probably benign	Het
Jhy	G	A	9: 40,911,157	Q562*	probably null	Het
Kcnj5	A	G	9: 32,322,569	I150T	probably damaging	Het
Kmt2a	A	G	9: 44,841,621	I1419T	unknown	Het
Lix1	T	C	17: 17,446,058	F160L	possibly damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Map4k1	A	T	7: 28,989,352	Q276L	possibly damaging	Het
Mmp9	G	A	2: 164,949,422	G171S	probably damaging	Het
Mvp	C	A	7: 126,995,735		probably null	Het
Mylk3	T	A	8: 85,364,831	E115V	probably damaging	Het
Nebl	T	A	2: 17,388,754	T603S	probably damaging	Het
Nudt15	T	C	14: 73,523,336	D105G	probably benign	Het
Olfr1369-ps1	G	A	13: 21,116,306	V205I	probably benign	Het
Olfr527	A	C	7: 140,335,999	T46P	possibly damaging	Het
Olfr556	G	T	7: 102,670,162	V81L	probably damaging	Het
Olfr65	T	A	7: 103,906,699	W87R	probably damaging	Het
Olfr685	A	T	7: 105,180,760	H199Q	probably damaging	Het
Olfr971	A	G	9: 39,840,285	M284V	probably benign	Het
Osbpl9	A	T	4: 109,066,218	C495S	probably damaging	Het
Pamr1	A	G	2: 102,640,852	T507A	probably benign	Het
Pcdhb9	T	A	18: 37,403,327	C791*	probably null	Het
Pcgf6	T	C	19: 47,050,518	E101G	probably damaging	Het
Pdgfrl	A	T	8: 40,985,794	I256F	probably benign	Het
Pdzd7	T	C	19: 45,045,511	R45G	possibly damaging	Het
Pecr	C	T	1: 72,277,409	V46I	possibly damaging	Het
Pgr	A	G	9: 8,922,714		probably null	Het
Pik3c2a	A	T	7: 116,417,927	Y198*	probably null	Het
Pp2d1	T	A	17: 53,515,310	M243L	possibly damaging	Het
Ppp1r1a	T	A	15: 103,533,492	I50L	possibly damaging	Het
Proc	T	C	18: 32,127,406	D222G	probably benign	Het
Ptprq	T	A	10: 107,534,699	R2044*	probably null	Het
Ranbp2	T	C	10: 58,460,519	V326A	probably benign	Het
Reep6	T	A	10: 80,333,981	F122I	possibly damaging	Het
Rusc1	A	G	3: 89,089,293	L62P	probably damaging	Het
Satb2	T	C	1: 56,850,289	N423S	probably damaging	Het
Serpinb9d	A	G	13: 33,200,748	K236R	probably benign	Het
Slc4a7	A	G	14: 14,765,709	R680G	probably benign	Het
Slitrk1	T	A	14: 108,913,096	Y61F	probably benign	Het
Son	A	G	16: 91,660,226		probably benign	Het
Sparc	T	A	11: 55,395,776		probably null	Het
Spon2	A	G	5: 33,216,385	F194S	probably damaging	Het
Spta1	A	G	1: 174,241,042	E2136G	probably damaging	Het
Stat4	T	C	1: 52,106,925	S746P	probably damaging	Het
Stk31	T	A	6: 49,469,304	S958R	probably benign	Het
Stom	T	A	2: 35,315,917	I267F	probably damaging	Het
Stx12	A	T	4: 132,858,477	D197E	probably damaging	Het
Taok3	A	T	5: 117,255,926	N588I	possibly damaging	Het
Tgs1	A	G	4: 3,598,658	D657G	probably damaging	Het
Trim6	A	G	7: 104,232,837	T432A	probably damaging	Het
Trim72	C	G	7: 128,004,585	C34W	probably damaging	Het
Trpc4ap	A	T	2: 155,657,744	I286N	probably benign	Het
Ttn	A	G	2: 76,863,561	V321A	possibly damaging	Het
Utp4	T	A	8: 106,918,720	I583N	probably damaging	Het
Wdfy2	G	T	14: 62,944,097	M225I	probably benign	Het
Wfdc1	A	G	8: 119,681,037	T134A	probably benign	Het
Wnt9b	A	G	11: 103,732,128	S150P	probably damaging	Het
Zbtb46	A	T	2: 181,411,684	F412I	probably damaging	Het
Zc3h15	G	A	2: 83,661,148	R240H	probably benign	Het
Zfp11	A	T	5: 129,656,673	Y575N	probably benign	Het
Zfp687	T	C	3: 95,011,889	M191V	probably benign	Het

Other mutations in Rubcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Rubcn	APN	16	32824377	critical splice donor site	probably null
IGL00777:Rubcn	APN	16	32836563	missense	probably damaging	0.98
IGL01402:Rubcn	APN	16	32827296	missense	probably damaging	1.00
IGL01404:Rubcn	APN	16	32827296	missense	probably damaging	1.00
IGL02255:Rubcn	APN	16	32827345	missense	probably benign	0.04
IGL03019:Rubcn	APN	16	32826707	missense	probably damaging	0.98
IGL03388:Rubcn	APN	16	32841568	missense	probably benign	0.02
R0254:Rubcn	UTSW	16	32847946	missense	probably benign	0.00
R0373:Rubcn	UTSW	16	32835980	missense	probably damaging	1.00
R0636:Rubcn	UTSW	16	32828686	missense	probably damaging	1.00
R0839:Rubcn	UTSW	16	32827343	missense	probably damaging	0.98
R0967:Rubcn	UTSW	16	32825717	missense	probably benign	0.00
R1819:Rubcn	UTSW	16	32826914	missense	possibly damaging	0.93
R1840:Rubcn	UTSW	16	32826172	missense	possibly damaging	0.83
R2511:Rubcn	UTSW	16	32847254	missense	probably damaging	1.00
R3932:Rubcn	UTSW	16	32829259	splice site	probably null
R3933:Rubcn	UTSW	16	32829259	splice site	probably null
R4384:Rubcn	UTSW	16	32856902	missense	probably damaging	0.96
R4788:Rubcn	UTSW	16	32836408	critical splice donor site	probably null
R4852:Rubcn	UTSW	16	32843308	missense	probably damaging	1.00
R4921:Rubcn	UTSW	16	32847294	missense	probably damaging	1.00
R4950:Rubcn	UTSW	16	32843193	missense	probably damaging	1.00
R5234:Rubcn	UTSW	16	32836458	missense	probably damaging	1.00
R5527:Rubcn	UTSW	16	32826711	missense	probably damaging	1.00
R5616:Rubcn	UTSW	16	32826923	missense	possibly damaging	0.76
R5823:Rubcn	UTSW	16	32849721	missense	probably damaging	0.98
R6970:Rubcn	UTSW	16	32868144	intron	probably benign
R7120:Rubcn	UTSW	16	32836469	missense	probably damaging	1.00
R7121:Rubcn	UTSW	16	32836469	missense	probably damaging	1.00
R7221:Rubcn	UTSW	16	32866923	intron	probably null
X0065:Rubcn	UTSW	16	32847985	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- ACAGAGCATCATGTCATGCAGGAAC -3'
(R):5'- ATGAGCGACAGCACTCTGACTAGC -3'

Sequencing Primer
(F):5'- CATGTCATGCAGGAACATTTCTTC -3'
(R):5'- AGAATGACTCCCCAAGTGATG -3'

Posted On

2014-05-14