Mutagenetix > Incidental Mutation

Incidental Mutation 'R5527:Rubcn'

431954

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

043085-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R5527 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32821703-32877766 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32826711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 771 (K771E)

Ref Sequence

ENSEMBL: ENSMUSP00000155943 (fasta)

Gene Model

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

AlphaFold

Q80U62

Predicted Effect

probably damaging
Transcript: ENSMUST00000040986
AA Change: K771E

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

SMART Domains

Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629
AA Change: K771E

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: K786E

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

SMART Domains

Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629
AA Change: K786E

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: K757E

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

SMART Domains

Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629
AA Change: K757E

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: K710E

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

SMART Domains

Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629
AA Change: K710E

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

noncoding transcript
Transcript: ENSMUST00000140229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152920

Predicted Effect

probably damaging
Transcript: ENSMUST00000231478
AA Change: K786E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232269
AA Change: K771E

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

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 94.9%
20x: 89.7%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,460,978	Y1051N	probably benign	Het
Bach1	T	C	16: 87,719,545	S325P	probably benign	Het
Baz2a	T	C	10: 128,124,917	S1529P	probably damaging	Het
BC027072	A	T	17: 71,752,640	V14D	probably damaging	Het
Bicd1	T	C	6: 149,494,636	L168P	probably damaging	Het
Cat	A	G	2: 103,472,973	F153S	probably damaging	Het
Ccnt2	T	C	1: 127,802,664	M426T	probably benign	Het
Cdk7	C	T	13: 100,730,472	V38I	probably damaging	Het
Cenpj	T	C	14: 56,526,983	Y1324C	probably damaging	Het
Ddx47	C	A	6: 135,011,694	A18E	probably benign	Het
Dnah2	G	A	11: 69,437,188	Q3370*	probably null	Het
Dnah6	C	T	6: 73,159,229	V976I	probably benign	Het
Dock7	C	T	4: 98,953,868		probably benign	Het
Dpy19l3	A	T	7: 35,714,130	I362N	possibly damaging	Het
Fam118a	A	T	15: 85,058,798	T343S	probably benign	Het
Fcgbp	T	A	7: 28,093,635	D1021E	probably benign	Het
Fkbp1b	T	C	12: 4,833,746	Y83C	probably damaging	Het
Flt4	T	C	11: 49,634,754	I709T	probably damaging	Het
Gga3	G	T	11: 115,587,436	A510D	probably damaging	Het
Heatr1	T	C	13: 12,402,760	I264T	probably damaging	Het
Heatr1	T	C	13: 12,404,948	I384T	probably benign	Het
Hes2	T	C	4: 152,160,392	V106A	probably benign	Het
Igf1r	T	A	7: 68,207,821	M1083K	probably damaging	Het
Il7r	A	T	15: 9,512,924	D166E	probably benign	Het
Ipo4	G	A	14: 55,632,050		probably null	Het
Klk1b26	T	C	7: 44,012,763	I15T	probably benign	Het
Krt42	T	C	11: 100,263,295		probably benign	Het
Lag3	T	C	6: 124,908,629	T263A	probably damaging	Het
Lilra6	T	A	7: 3,914,587		probably benign	Het
Lrrc31	T	A	3: 30,691,228	H90L	probably damaging	Het
Lvrn	G	A	18: 46,873,803	D331N	probably damaging	Het
Me2	A	T	18: 73,791,116	W342R	probably damaging	Het
Mob2	A	G	7: 142,009,410	F220S	probably damaging	Het
Mroh4	A	G	15: 74,615,016	I342T	probably damaging	Het
Naa15	T	C	3: 51,441,947	Y46H	probably damaging	Het
Neb	A	G	2: 52,334,453	V10A	unknown	Het
Nlrc5	A	G	8: 94,490,416	H1011R	probably damaging	Het
Nr1i3	A	G	1: 171,214,352	T2A	possibly damaging	Het
Nrros	T	C	16: 32,144,470	N207S	probably damaging	Het
Olfr1356	C	T	10: 78,847,775	V47M	probably benign	Het
Olfr553	A	T	7: 102,614,561	S143T	probably benign	Het
Ptprz1	C	T	6: 23,000,053	T714I	possibly damaging	Het
Rp1	T	C	1: 4,346,393	T1499A	possibly damaging	Het
Rsg1	C	A	4: 141,219,992	A228D	probably damaging	Het
Sbds	T	C	5: 130,246,406	E227G	possibly damaging	Het
Setd1a	C	T	7: 127,785,629	P8S	probably damaging	Het
Sh3tc2	A	G	18: 62,011,861	I1129V	probably benign	Het
Spef1	T	A	2: 131,172,741	D87V	probably damaging	Het
Supv3l1	C	T	10: 62,429,829	R644Q	probably damaging	Het
Thoc6	A	G	17: 23,670,795	F51S	probably damaging	Het
Tm4sf19	T	C	16: 32,407,921	L176P	probably damaging	Het
Tma16	A	G	8: 66,484,124	I17T	possibly damaging	Het
Tpd52l2	G	A	2: 181,502,054		probably null	Het
Ube2j1	C	T	4: 33,045,164	P146S	probably benign	Het
Ubr4	T	A	4: 139,480,788	I4960N	possibly damaging	Het
Usp13	A	G	3: 32,865,838	D224G	probably damaging	Het
Uxs1	T	C	1: 43,780,080	T188A	probably damaging	Het
Vmn2r12	A	T	5: 109,086,617	Y576*	probably null	Het
Vmn2r73	T	C	7: 85,858,367	D579G	possibly damaging	Het
Xpr1	T	C	1: 155,290,235	N524D	probably benign	Het
Xrn2	A	T	2: 147,029,755	I366L	probably benign	Het
Zfp236	A	T	18: 82,658,034	V386E	possibly damaging	Het
Zfp292	A	T	4: 34,806,261	L2261Q	probably damaging	Het
Zpld1	C	G	16: 55,226,362	E415Q	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
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
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
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
R8923:Rubcn	UTSW	16	32825679	missense	probably damaging	1.00
R9046:Rubcn	UTSW	16	32841570	missense	probably benign	0.00
R9587:Rubcn	UTSW	16	32843309	missense	probably damaging	1.00
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'- AGAGGCCTTGCTAGCACTATG -3'
(R):5'- CTAGGCAAGTACTTCTGCCAG -3'

Sequencing Primer
(F):5'- CTTGCTAGCACTATGGGCATCAG -3'
(R):5'- GCAAGTACTTCTGCCAGTGCTG -3'

Posted On

2016-10-05