Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Rubcn'

30649

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

038579-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32642072-32698121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32656350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 544 (S544P)

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: S544P

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

SMART Domains

Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629
AA Change: S544P

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: S559P

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

SMART Domains

Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629
AA Change: S559P

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: S530P

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

SMART Domains

Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629
AA Change: S530P

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: S483P

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

SMART Domains

Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629
AA Change: S483P

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: ENSMUST00000153556

Predicted Effect

probably damaging
Transcript: ENSMUST00000231478
AA Change: S559P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232269
AA Change: S544P

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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 137,879,343 (GRCm39)	L235Q	probably damaging	Het
Aadacl4fm4	A	T	4: 144,412,790 (GRCm39)	M50K	possibly damaging	Het
Adam6b	T	A	12: 113,454,275 (GRCm39)	V364D	probably benign	Het
Akap13	T	C	7: 75,259,677 (GRCm39)	L767P	probably benign	Het
Akap13	T	A	7: 75,380,248 (GRCm39)	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,496,203 (GRCm39)	V69A	probably benign	Het
Ankmy1	C	T	1: 92,823,912 (GRCm39)	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,337,478 (GRCm39)	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,338,169 (GRCm39)	R280C	probably damaging	Het
Bbs10	T	A	10: 111,135,913 (GRCm39)	I342N	probably damaging	Het
Calhm2	T	C	19: 47,121,389 (GRCm39)	D260G	possibly damaging	Het
Camk2a	A	G	18: 61,091,310 (GRCm39)	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,524,543 (GRCm39)	M270L	probably benign	Het
Cdc16	A	G	8: 13,829,264 (GRCm39)	T517A	probably benign	Het
Ces1g	T	C	8: 94,057,821 (GRCm39)	H160R	probably benign	Het
Chst4	T	C	8: 110,757,026 (GRCm39)	N196S	probably damaging	Het
Ciz1	A	T	2: 32,257,479 (GRCm39)	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 86,909,093 (GRCm39)	V57I	probably damaging	Het
Cyth3	A	G	5: 143,670,181 (GRCm39)		probably benign	Het
Def6	A	G	17: 28,439,154 (GRCm39)	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,916,681 (GRCm39)	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,672,804 (GRCm39)	D825A	probably damaging	Het
Eif3m	T	C	2: 104,835,345 (GRCm39)	T242A	probably benign	Het
Emilin3	A	G	2: 160,751,737 (GRCm39)	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700 (GRCm39)		probably null	Het
Fbxo45	A	T	16: 32,057,223 (GRCm39)	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,223,161 (GRCm39)	M836L	possibly damaging	Het
Fut4	C	A	9: 14,662,506 (GRCm39)	V263F	probably damaging	Het
Ggt1	C	T	10: 75,415,104 (GRCm39)	T206M	probably benign	Het
Gls	T	C	1: 52,227,858 (GRCm39)	R79G	probably damaging	Het
Grhl1	T	C	12: 24,631,514 (GRCm39)	S156P	probably benign	Het
Ipo8	C	T	6: 148,676,540 (GRCm39)	S983N	probably benign	Het
Kcna7	C	T	7: 45,058,868 (GRCm39)	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,075,916 (GRCm39)	L40Q	probably damaging	Het
Matn1	A	T	4: 130,677,417 (GRCm39)	S209C	probably damaging	Het
Mcc	A	G	18: 44,608,289 (GRCm39)	I501T	probably benign	Het
Mdp1	A	T	14: 55,896,832 (GRCm39)	F104L	probably damaging	Het
Mib2	A	T	4: 155,740,745 (GRCm39)	N626K	probably damaging	Het
Mrgprh	T	C	17: 13,095,843 (GRCm39)	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,774,386 (GRCm39)		noncoding transcript	Het
Myh15	A	G	16: 49,003,322 (GRCm39)	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,711,868 (GRCm39)	P680A	probably benign	Het
Myom2	G	T	8: 15,148,419 (GRCm39)	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,012,801 (GRCm39)	N57S	probably benign	Het
Nectin3	C	T	16: 46,278,550 (GRCm39)	V282M	probably damaging	Het
Nup188	G	T	2: 30,221,000 (GRCm39)	D997Y	probably damaging	Het
Olfm3	T	C	3: 114,916,454 (GRCm39)	V462A	probably damaging	Het
Opcml	A	G	9: 28,724,694 (GRCm39)	H164R	possibly damaging	Het
Or14a259	A	T	7: 86,013,013 (GRCm39)	C177*	probably null	Het
Or4c120	A	T	2: 89,000,757 (GRCm39)	F266L	probably benign	Het
Or8u9	A	C	2: 86,002,050 (GRCm39)	F37C	probably damaging	Het
Pacrg	A	G	17: 10,622,347 (GRCm39)	I209T	probably damaging	Het
Pcf11	T	C	7: 92,310,423 (GRCm39)	M522V	probably benign	Het
Pck1	T	A	2: 172,995,183 (GRCm39)	M1K	probably null	Het
Pcm1	G	T	8: 41,729,148 (GRCm39)	E707*	probably null	Het
Pcsk5	G	A	19: 17,632,213 (GRCm39)	R318W	probably damaging	Het
Phf11d	A	T	14: 59,590,793 (GRCm39)	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,668,262 (GRCm39)	C615*	probably null	Het
Prkdc	T	A	16: 15,609,791 (GRCm39)	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,357,609 (GRCm39)		probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Rad50	A	G	11: 53,541,346 (GRCm39)	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,284,668 (GRCm39)	N678K	possibly damaging	Het
Rwdd2a	A	T	9: 86,456,453 (GRCm39)	T210S	possibly damaging	Het
Scd2	A	G	19: 44,291,479 (GRCm39)	D306G	probably damaging	Het
Sema3b	T	C	9: 107,480,117 (GRCm39)	N207S	probably benign	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sipa1l2	C	A	8: 126,191,149 (GRCm39)	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,067,951 (GRCm39)	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,275,799 (GRCm39)	I461L	probably benign	Het
Slc1a6	C	A	10: 78,637,756 (GRCm39)	Y427*	probably null	Het
Slc30a4	A	T	2: 122,531,319 (GRCm39)	I231K	probably damaging	Het
Sos1	G	T	17: 80,761,192 (GRCm39)	A168D	probably damaging	Het
Spata31f1a	T	C	4: 42,851,161 (GRCm39)	I332V	probably benign	Het
Sptb	T	C	12: 76,668,145 (GRCm39)	S651G	probably benign	Het
Stk36	T	C	1: 74,672,779 (GRCm39)	L1007P	probably damaging	Het
Tek	A	T	4: 94,692,578 (GRCm39)	N229Y	probably damaging	Het
Tep1	A	G	14: 51,074,225 (GRCm39)	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,713,988 (GRCm39)	C602*	probably null	Het
Tnfrsf19	A	G	14: 61,209,485 (GRCm39)	S262P	possibly damaging	Het
Trim5	T	C	7: 103,914,891 (GRCm39)	I393V	probably benign	Het
Trpm6	A	G	19: 18,830,951 (GRCm39)	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,018,670 (GRCm39)	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,375,738 (GRCm39)	L151H	probably damaging	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Ubr1	A	T	2: 120,777,138 (GRCm39)	Y276N	probably benign	Het
Uggt1	A	G	1: 36,218,751 (GRCm39)	S59P	probably benign	Het
Unc45a	T	C	7: 79,976,092 (GRCm39)	T796A	probably damaging	Het
Unc5b	C	A	10: 60,614,719 (GRCm39)	V193F	possibly damaging	Het
Upp1	G	T	11: 9,079,590 (GRCm39)	M50I	probably benign	Het
Vps18	C	T	2: 119,124,386 (GRCm39)	R438C	probably damaging	Het
Zfp715	T	C	7: 42,948,760 (GRCm39)	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,521,496 (GRCm39)	Y322H	probably benign	Het

Other mutations in Rubcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Rubcn	APN	16	32,644,747 (GRCm39)	critical splice donor site	probably null
IGL00777:Rubcn	APN	16	32,656,933 (GRCm39)	missense	probably damaging	0.98
IGL01402:Rubcn	APN	16	32,647,666 (GRCm39)	missense	probably damaging	1.00
IGL01404:Rubcn	APN	16	32,647,666 (GRCm39)	missense	probably damaging	1.00
IGL02255:Rubcn	APN	16	32,647,715 (GRCm39)	missense	probably benign	0.04
IGL03019:Rubcn	APN	16	32,647,077 (GRCm39)	missense	probably damaging	0.98
IGL03388:Rubcn	APN	16	32,661,938 (GRCm39)	missense	probably benign	0.02
R0254:Rubcn	UTSW	16	32,668,316 (GRCm39)	missense	probably benign	0.00
R0636:Rubcn	UTSW	16	32,649,056 (GRCm39)	missense	probably damaging	1.00
R0839:Rubcn	UTSW	16	32,647,713 (GRCm39)	missense	probably damaging	0.98
R0967:Rubcn	UTSW	16	32,646,087 (GRCm39)	missense	probably benign	0.00
R1711:Rubcn	UTSW	16	32,663,471 (GRCm39)	missense	probably damaging	1.00
R1819:Rubcn	UTSW	16	32,647,284 (GRCm39)	missense	possibly damaging	0.93
R1840:Rubcn	UTSW	16	32,646,542 (GRCm39)	missense	possibly damaging	0.83
R2511:Rubcn	UTSW	16	32,667,624 (GRCm39)	missense	probably damaging	1.00
R3932:Rubcn	UTSW	16	32,649,629 (GRCm39)	splice site	probably null
R3933:Rubcn	UTSW	16	32,649,629 (GRCm39)	splice site	probably null
R4384:Rubcn	UTSW	16	32,677,272 (GRCm39)	missense	probably damaging	0.96
R4788:Rubcn	UTSW	16	32,656,778 (GRCm39)	critical splice donor site	probably null
R4852:Rubcn	UTSW	16	32,663,678 (GRCm39)	missense	probably damaging	1.00
R4921:Rubcn	UTSW	16	32,667,664 (GRCm39)	missense	probably damaging	1.00
R4950:Rubcn	UTSW	16	32,663,563 (GRCm39)	missense	probably damaging	1.00
R5234:Rubcn	UTSW	16	32,656,828 (GRCm39)	missense	probably damaging	1.00
R5527:Rubcn	UTSW	16	32,647,081 (GRCm39)	missense	probably damaging	1.00
R5616:Rubcn	UTSW	16	32,647,293 (GRCm39)	missense	possibly damaging	0.76
R5823:Rubcn	UTSW	16	32,670,091 (GRCm39)	missense	probably damaging	0.98
R6970:Rubcn	UTSW	16	32,688,514 (GRCm39)	intron	probably benign
R7120:Rubcn	UTSW	16	32,656,839 (GRCm39)	missense	probably damaging	1.00
R7121:Rubcn	UTSW	16	32,656,839 (GRCm39)	missense	probably damaging	1.00
R7221:Rubcn	UTSW	16	32,687,293 (GRCm39)	splice site	probably null
R7833:Rubcn	UTSW	16	32,688,644 (GRCm39)	start gained	probably benign
R8108:Rubcn	UTSW	16	32,677,320 (GRCm39)	missense	probably damaging	1.00
R8211:Rubcn	UTSW	16	32,656,913 (GRCm39)	missense	possibly damaging	0.87
R8923:Rubcn	UTSW	16	32,646,049 (GRCm39)	missense	probably damaging	1.00
R9046:Rubcn	UTSW	16	32,661,940 (GRCm39)	missense	probably benign	0.00
R9587:Rubcn	UTSW	16	32,663,679 (GRCm39)	missense	probably damaging	1.00
R9694:Rubcn	UTSW	16	32,663,481 (GRCm39)	missense	probably benign	0.22
X0065:Rubcn	UTSW	16	32,668,355 (GRCm39)	missense	possibly damaging	0.85
Z1176:Rubcn	UTSW	16	32,663,533 (GRCm39)	missense	probably benign	0.00
Z1177:Rubcn	UTSW	16	32,645,959 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGCCCAGGGAAACAGTCTAAATC -3'
(R):5'- TCTCCAAAGTTGAGTGGAGCAGCAG -3'

Sequencing Primer
(F):5'- CAATAACGGTGCTCTGTAATGG -3'
(R):5'- CAGCAGCAAGTGTCAGTTC -3'

Posted On

2013-04-24