Mutagenetix > Incidental Mutations

Incidental Mutation 'R4384:Rubcn'

326135

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

042002-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R4384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32821703-32877766 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32856902 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 71 (I71T)

Ref Sequence

ENSEMBL: ENSMUSP00000155868 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040986
AA Change: I71T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629
AA Change: I71T

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: I71T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629
AA Change: I71T

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: I71T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629
AA Change: I71T

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: I10T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629
AA Change: I10T

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: ENSMUST00000149621

Predicted Effect

probably damaging
Transcript: ENSMUST00000231478
AA Change: I71T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232269
AA Change: I71T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.2067

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,568	V27E	possibly damaging	Het
Adam23	T	C	1: 63,566,628	Y624H	probably damaging	Het
Arhgef10	T	A	8: 14,930,157	C132*	probably null	Het
Boc	A	T	16: 44,491,182	L726H	probably damaging	Het
Brip1	A	T	11: 86,148,429	D426E	possibly damaging	Het
Cadps2	T	A	6: 23,412,988	Q654L	probably benign	Het
Calr3	T	A	8: 72,428,164	D120V	probably damaging	Het
Cntnap3	A	G	13: 64,748,460	Y1067H	probably damaging	Het
Csnk1g1	T	C	9: 66,019,908	V119A	probably damaging	Het
Ddias	G	A	7: 92,858,223	T828I	probably damaging	Het
Dennd4c	A	G	4: 86,811,450	Y763C	probably damaging	Het
Dscam	T	A	16: 96,709,216	I948F	probably damaging	Het
E030018B13Rik	A	G	7: 63,919,393		probably benign	Het
E2f8	G	A	7: 48,867,099	T844I	possibly damaging	Het
Eps8	T	A	6: 137,499,592	H603L	probably benign	Het
Esrrg	G	A	1: 188,043,711	C122Y	probably damaging	Het
Frmd4a	C	T	2: 4,594,563	R467*	probably null	Het
Gad2	G	A	2: 22,685,410	V509I	probably benign	Het
Gpat4	A	G	8: 23,174,586	I446T	probably benign	Het
Klhl12	T	G	1: 134,487,654	D435E	probably damaging	Het
Luc7l	T	C	17: 26,279,962		probably benign	Het
March2	C	A	17: 33,696,193	M142I	probably benign	Het
Marf1	T	A	16: 14,142,641	Y513F	possibly damaging	Het
Mdm2	T	C	10: 117,696,439	D114G	possibly damaging	Het
Med1	G	A	11: 98,152,862		probably benign	Het
Meikin	C	T	11: 54,417,787	Q404*	probably null	Het
Myh9	A	T	15: 77,791,712		probably benign	Het
Mylip	T	C	13: 45,389,958	M1T	probably null	Het
Ncapg2	T	C	12: 116,439,877		probably null	Het
Nmd3	T	C	3: 69,724,398		probably benign	Het
Nwd2	T	A	5: 63,806,571	L1166H	probably damaging	Het
Olfr341	A	G	2: 36,479,998	L44P	probably damaging	Het
Olfr912	T	C	9: 38,582,053	Y259H	probably damaging	Het
Rwdd3	T	C	3: 121,158,757		probably benign	Het
Ryr2	T	C	13: 11,605,233	E3826G	probably damaging	Het
Sdad1	T	C	5: 92,298,257	Q273R	probably benign	Het
Sdha	A	T	13: 74,326,985	I579K	possibly damaging	Het
Sema4d	A	G	13: 51,702,883	L771P	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc6a11	A	G	6: 114,247,727	E624G	possibly damaging	Het
Tada3	G	T	6: 113,370,379	R117S	probably damaging	Het
Tm9sf3	T	C	19: 41,247,933	M130V	probably damaging	Het
Trpc1	C	A	9: 95,732,108	M34I	probably benign	Het
Trpc4ap	A	G	2: 155,640,507	V521A	possibly damaging	Het
Trpm2	A	G	10: 77,917,725	V1315A	probably benign	Het
Tvp23a	A	G	16: 10,428,682	S80P	probably benign	Het
Usp54	A	T	14: 20,550,085		probably null	Het
Vmn2r27	A	G	6: 124,224,156	Y281H	probably benign	Het
Vwf	T	A	6: 125,655,116	I37N	unknown	Het
Zfp329	G	A	7: 12,811,657		probably benign	Het
Zfp616	G	T	11: 74,083,179	L91F	possibly 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
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
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	splice site	probably null
R7833:Rubcn	UTSW	16	32868274	start gained	probably benign
R8108:Rubcn	UTSW	16	32856950	missense	probably damaging	1.00
R8211:Rubcn	UTSW	16	32836543	missense	possibly damaging	0.87
X0065:Rubcn	UTSW	16	32847985	missense	possibly damaging	0.85
Z1176:Rubcn	UTSW	16	32843163	missense	probably benign	0.00
Z1177:Rubcn	UTSW	16	32825589	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTCTGACCTCAGGAGCGG -3'
(R):5'- GGATCAGGCACAACAGACCTAG -3'

Sequencing Primer
(F):5'- AGTAGCCAACAGTTTCACCTGTG -3'
(R):5'- CCTAGCTAACCATTCATTGGGTATG -3'

Posted On

2015-07-06