Mutagenetix > Incidental Mutations

Incidental Mutation 'R2511:Rubcn'

253032

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

040417-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.767) question?

Stock #

R2511 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

32821703-32877766 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32847254 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 179 (N179S)

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: N179S

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

SMART Domains

Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629
AA Change: N179S

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: N179S

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

SMART Domains

Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629
AA Change: N179S

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: N179S

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

SMART Domains

Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629
AA Change: N179S

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: N118S

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

SMART Domains

Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629
AA Change: N118S

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

probably damaging
Transcript: ENSMUST00000231478
AA Change: N179S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232269
AA Change: N179S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	C	1: 37,625,300	M506V	probably benign	Het
9330159F19Rik	T	A	10: 29,221,906	C100S	probably damaging	Het
Abcc8	C	T	7: 46,150,780	R526H	probably damaging	Het
Acad10	G	A	5: 121,631,567	P609S	probably benign	Het
Acod1	A	T	14: 103,051,339	D95V	probably damaging	Het
Acsm5	A	T	7: 119,530,454	I130F	possibly damaging	Het
Ago4	A	T	4: 126,517,071	D208E	probably damaging	Het
Agrn	A	T	4: 156,166,424		probably null	Het
Ankar	A	T	1: 72,658,694	I791K	probably damaging	Het
Ano10	A	G	9: 122,258,945	V364A	probably damaging	Het
Arhgap9	T	C	10: 127,328,985		probably null	Het
Arsi	G	A	18: 60,916,594	C183Y	probably damaging	Het
Ascl2	T	G	7: 142,968,216	E97A	probably damaging	Het
Asna1	A	G	8: 85,019,766	V151A	possibly damaging	Het
Bcl2a1a	C	T	9: 88,957,453	R135W	probably damaging	Het
Bms1	C	T	6: 118,391,153		probably null	Het
Bysl	T	A	17: 47,604,335	T163S	probably benign	Het
Card10	A	G	15: 78,780,273	I821T	probably benign	Het
Cc2d2a	A	T	5: 43,735,395	Q1433L	probably damaging	Het
Cchcr1	T	C	17: 35,530,513	S809P	probably benign	Het
Ccz1	G	T	5: 144,012,997	T70K	probably damaging	Het
Cdc25c	G	C	18: 34,738,239	L275V	probably damaging	Het
Cep164	A	T	9: 45,775,249	L729Q	probably damaging	Het
Clcn6	A	G	4: 148,017,494		probably null	Het
Clcn7	T	A	17: 25,155,446	V507E	probably damaging	Het
Ctso	A	C	3: 81,932,734	T24P	probably damaging	Het
Dis3l2	A	T	1: 86,990,258	N543I	probably benign	Het
Dnah12	A	T	14: 26,769,950	Y1114F	possibly damaging	Het
Emx1	A	G	6: 85,204,051	D250G	probably benign	Het
Epha4	G	A	1: 77,511,702	A47V	possibly damaging	Het
Fam149b	A	C	14: 20,378,456	N341T	probably damaging	Het
Fsip2	A	G	2: 82,951,657	K62R	probably damaging	Het
Fsip2	T	C	2: 82,986,438	S4172P	probably benign	Het
Gbp3	A	G	3: 142,570,582	R480G	probably benign	Het
Gja8	T	G	3: 96,919,717	T210P	probably damaging	Het
Gm13103	G	A	4: 143,851,991	V274I	probably benign	Het
Gm5431	T	A	11: 48,888,709	N740I	probably benign	Het
Gm9930	T	C	10: 9,534,702		noncoding transcript	Het
Gstt4	C	T	10: 75,815,125	C221Y	probably benign	Het
Gzmg	A	T	14: 56,158,375	D42E	probably benign	Het
Hoxd12	G	A	2: 74,675,471	A129T	possibly damaging	Het
Hs2st1	G	A	3: 144,569,930		probably benign	Het
Ifnlr1	G	T	4: 135,705,248	D332Y	probably damaging	Het
Igsf10	T	C	3: 59,331,866	D298G	probably damaging	Het
Irf1	T	C	11: 53,773,791	V108A	probably damaging	Het
Jsrp1	C	G	10: 80,812,306	S36T	probably benign	Het
Kcnq5	T	A	1: 21,505,782	R233*	probably null	Het
Kif7	T	C	7: 79,702,264	K917E	probably damaging	Het
Krt7	A	C	15: 101,412,657	I62L	probably benign	Het
Lifr	A	G	15: 7,166,916	T194A	probably benign	Het
Ltbp2	T	C	12: 84,804,409		probably null	Het
Man2c1	A	G	9: 57,141,388		probably null	Het
Met	T	C	6: 17,491,967	S243P	probably damaging	Het
Mllt10	C	A	2: 18,065,124	D30E	possibly damaging	Het
Mre11a	A	C	9: 14,795,769		probably null	Het
Mroh9	A	G	1: 163,038,945	S710P	probably benign	Het
Mvk	C	A	5: 114,450,398	Y116*	probably null	Het
Myh1	A	G	11: 67,205,597	I301V	probably benign	Het
Ncf1	T	C	5: 134,225,698	D184G	probably damaging	Het
Nxpe4	T	C	9: 48,393,233	F207L	probably damaging	Het
Olfr10	T	G	11: 49,318,221	L225R	probably damaging	Het
Olfr1137	T	C	2: 87,711,048	N286S	probably damaging	Het
Olfr1301	T	A	2: 111,754,316	N22K	probably benign	Het
Olfr1449	T	A	19: 12,935,173	M145K	possibly damaging	Het
Olfr690	A	T	7: 105,329,610	I194N	probably damaging	Het
Olfr700	G	T	7: 106,805,961	P167H	probably damaging	Het
Pcdh1	G	A	18: 38,199,479	T296M	possibly damaging	Het
Pcdh15	A	G	10: 74,645,996	D391G	possibly damaging	Het
Pcdha7	C	A	18: 36,974,733	D270E	probably damaging	Het
Pgam1	C	A	19: 41,915,876	S137R	probably damaging	Het
Pitpnm2	T	C	5: 124,136,326	E240G	probably damaging	Het
Plce1	T	G	19: 38,760,054	I1729S	probably damaging	Het
Plppr4	G	T	3: 117,331,706	N161K	probably damaging	Het
Prkce	T	A	17: 86,625,326	I578N	probably damaging	Het
Prss58	A	C	6: 40,897,800	S36A	probably damaging	Het
Ptprm	T	C	17: 66,693,778	H1128R	probably damaging	Het
Rgs9	T	C	11: 109,268,972	Y178C	probably benign	Het
Sh3bp1	C	T	15: 78,911,506	P612S	probably damaging	Het
Sh3bp5	G	A	14: 31,411,629	T82M	probably damaging	Het
Shank2	A	G	7: 144,411,577	Y974C	probably damaging	Het
Slc9c1	T	C	16: 45,544,736	I144T	possibly damaging	Het
Slf2	T	C	19: 44,941,606	I374T	possibly damaging	Het
Snx13	A	G	12: 35,138,081	D786G	probably benign	Het
Spcs3	A	G	8: 54,523,354	V151A	possibly damaging	Het
Sstr2	A	T	11: 113,624,923	I223F	probably damaging	Het
Stac3	T	C	10: 127,503,918		probably null	Het
Tas1r2	A	G	4: 139,659,851	N207S	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Tgm5	T	C	2: 121,076,948	E98G	possibly damaging	Het
Tktl2	A	G	8: 66,512,852	E354G	probably benign	Het
Tmem57	A	G	4: 134,804,388	S657P	probably damaging	Het
Tmem94	G	A	11: 115,791,961	R608H	probably damaging	Het
Tnrc6a	G	A	7: 123,171,092	V702I	probably damaging	Het
Trappc10	A	G	10: 78,211,523	S380P	possibly damaging	Het
Trim24	G	A	6: 37,903,652		probably null	Het
Ugt1a2	A	G	1: 88,201,124	Y163C	probably damaging	Het
Vmn1r215	A	G	13: 23,076,173	I128V	probably benign	Het
Vmn2r50	T	A	7: 10,047,713	E368D	possibly damaging	Het
Vmn2r59	T	C	7: 42,043,766	N470S	probably damaging	Het
Vps45	T	C	3: 96,041,445	T333A	probably benign	Het
Zbtb44	T	A	9: 31,054,243	D316E	probably damaging	Het
Zdhhc1	C	T	8: 105,483,558	V76M	probably benign	Het
Zfp235	T	C	7: 24,142,124	F656S	probably damaging	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
R1711:Rubcn	UTSW	16	32843101	missense	probably damaging	1.00
R1819:Rubcn	UTSW	16	32826914	missense	possibly damaging	0.93
R1840:Rubcn	UTSW	16	32826172	missense	possibly damaging	0.83
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
X0065:Rubcn	UTSW	16	32847985	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CCCAACTCTTCACAAGCATTGTAA -3'
(R):5'- TTAGACTGCACACGGCTTGG -3'

Sequencing Primer
(F):5'- GTAAAAACTAAGTCTGTCAGCGC -3'
(R):5'- ACACGGCTTGGCTTTCCTAGAC -3'

Posted On

2014-12-04