Mutagenetix > Incidental Mutation

Incidental Mutation 'R0254:Rubcn'

34603

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

038485-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R0254 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

32821703-32877766 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32847946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 117 (V117A)

Ref Sequence

ENSEMBL: ENSMUSP00000155943 (fasta)

Gene Model

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

AlphaFold

Q80U62

Predicted Effect

probably benign
Transcript: ENSMUST00000040986
AA Change: V117A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629
AA Change: V117A

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 benign
Transcript: ENSMUST00000089684
AA Change: V117A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629
AA Change: V117A

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 benign
Transcript: ENSMUST00000115105
AA Change: V117A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629
AA Change: V117A

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 benign
Transcript: ENSMUST00000119810
AA Change: V56A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629
AA Change: V56A

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 benign
Transcript: ENSMUST00000231478
AA Change: V117A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000232269
AA Change: V117A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,952,404 (GRCm38)	M252L	probably benign	Het
Abca6	A	G	11: 110,236,789 (GRCm38)	V314A	probably benign	Het
Abcb1b	A	T	5: 8,827,409 (GRCm38)	E656D	probably benign	Het
Abhd4	T	C	14: 54,263,234 (GRCm38)	I160T	probably benign	Het
Aco2	T	C	15: 81,889,356 (GRCm38)	V32A	probably damaging	Het
Actl6b	A	G	5: 137,554,144 (GRCm38)		probably benign	Het
Akap13	T	C	7: 75,736,604 (GRCm38)		probably benign	Het
Alpk3	A	T	7: 81,076,974 (GRCm38)	T136S	probably benign	Het
Ap1g1	G	T	8: 109,803,117 (GRCm38)	M56I	probably benign	Het
Arid2	C	T	15: 96,370,571 (GRCm38)	T855I	probably damaging	Het
Asprv1	T	C	6: 86,629,095 (GRCm38)	F308L	probably damaging	Het
Ass1	A	T	2: 31,514,819 (GRCm38)	N371Y	probably damaging	Het
Atp11b	T	A	3: 35,812,110 (GRCm38)	M378K	possibly damaging	Het
Atp1a3	T	C	7: 24,981,512 (GRCm38)		probably benign	Het
Blk	C	A	14: 63,380,804 (GRCm38)	A218S	probably benign	Het
C4b	T	A	17: 34,734,776 (GRCm38)	T953S	probably benign	Het
Cdadc1	T	C	14: 59,575,907 (GRCm38)		probably benign	Het
Cdca2	C	A	14: 67,677,178 (GRCm38)	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,778,308 (GRCm38)	V83L	probably damaging	Het
Cep290	A	T	10: 100,514,574 (GRCm38)	I677F	probably benign	Het
Clip1	A	T	5: 123,617,332 (GRCm38)		probably benign	Het
Col11a2	G	T	17: 34,064,803 (GRCm38)		probably benign	Het
Coro1c	A	T	5: 113,845,252 (GRCm38)	V405D	probably benign	Het
Crebrf	A	G	17: 26,739,594 (GRCm38)	T13A	probably benign	Het
Cspg4	A	G	9: 56,897,410 (GRCm38)	E1835G	probably damaging	Het
Cubn	T	C	2: 13,424,694 (GRCm38)	N1332S	probably benign	Het
Cubn	T	C	2: 13,440,514 (GRCm38)	T1014A	possibly damaging	Het
Cubn	A	T	2: 13,476,035 (GRCm38)		probably null	Het
Efnb1	T	C	X: 99,137,028 (GRCm38)		probably benign	Het
Elf2	G	T	3: 51,308,190 (GRCm38)	P33Q	probably damaging	Het
Fap	C	T	2: 62,503,402 (GRCm38)	G633D	probably damaging	Het
Gm10288	T	C	3: 146,838,920 (GRCm38)		noncoding transcript	Het
Gm14139	G	A	2: 150,191,864 (GRCm38)	R35K	possibly damaging	Het
Gm7714	A	T	5: 88,282,371 (GRCm38)	H42L	possibly damaging	Het
Got2	T	C	8: 95,869,538 (GRCm38)	N318S	probably benign	Het
Guk1	A	T	11: 59,186,028 (GRCm38)	F76L	probably damaging	Het
H2-K1	A	T	17: 33,996,665 (GRCm38)		probably benign	Het
Helz2	C	A	2: 181,232,759 (GRCm38)	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,298,239 (GRCm38)	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,652,268 (GRCm38)		probably null	Het
Hsd11b2	T	A	8: 105,523,067 (GRCm38)	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,658,203 (GRCm38)	M81K	probably damaging	Het
Kif11	A	G	19: 37,411,509 (GRCm38)	T815A	probably benign	Het
Kit	G	A	5: 75,620,921 (GRCm38)	V337I	probably benign	Het
Klf11	T	C	12: 24,653,583 (GRCm38)	S6P	probably damaging	Het
Klk13	T	C	7: 43,723,821 (GRCm38)	V193A	probably benign	Het
Krt73	T	A	15: 101,799,889 (GRCm38)		probably benign	Het
L1td1	T	A	4: 98,737,182 (GRCm38)	L538*	probably null	Het
Macf1	A	G	4: 123,432,779 (GRCm38)	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,884,016 (GRCm38)	I900T	probably damaging	Het
Med16	A	T	10: 79,900,200 (GRCm38)	N371K	possibly damaging	Het
Mepce	A	C	5: 137,785,436 (GRCm38)	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,347,866 (GRCm38)	P1249R	probably benign	Het
Mx2	A	T	16: 97,556,095 (GRCm38)	I463L	probably benign	Het
Naaa	A	T	5: 92,265,135 (GRCm38)	N73K	probably damaging	Het
Nags	T	A	11: 102,147,945 (GRCm38)	L404Q	probably damaging	Het
Neb	A	G	2: 52,243,390 (GRCm38)	Y3379H	probably damaging	Het
Nhsl1	A	G	10: 18,472,985 (GRCm38)	E120G	probably damaging	Het
Olfr1276	A	C	2: 111,257,121 (GRCm38)	N2T	probably benign	Het
Olfr561	C	A	7: 102,774,869 (GRCm38)	S115*	probably null	Het
Olfr615	T	A	7: 103,560,622 (GRCm38)	Y48*	probably null	Het
Olfr643	T	C	7: 104,059,521 (GRCm38)	H27R	probably benign	Het
Olfr736	T	C	14: 50,393,079 (GRCm38)	S108P	probably damaging	Het
Pcnt	A	G	10: 76,392,580 (GRCm38)	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,167,935 (GRCm38)	V243I	probably damaging	Het
Polr2a	T	C	11: 69,743,671 (GRCm38)	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,324,224 (GRCm38)		probably benign	Het
Prmt8	C	A	6: 127,711,808 (GRCm38)	V200L	probably damaging	Het
Prpf8	T	A	11: 75,506,362 (GRCm38)	I2007N	possibly damaging	Het
Ptpn6	T	C	6: 124,728,150 (GRCm38)	E230G	probably damaging	Het
R3hcc1l	G	A	19: 42,563,148 (GRCm38)	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,262,847 (GRCm38)	T1330I	probably damaging	Het
Reep3	G	T	10: 67,021,796 (GRCm38)	T172N	probably benign	Het
Rfwd3	A	G	8: 111,294,023 (GRCm38)	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,552 (GRCm38)	I121V	probably damaging	Het
Robo1	T	A	16: 72,664,170 (GRCm38)	F11I	probably benign	Het
Rsrc2	A	G	5: 123,740,847 (GRCm38)		probably benign	Het
Scamp1	T	G	13: 94,210,580 (GRCm38)	N192T	probably benign	Het
Scn8a	T	A	15: 101,018,364 (GRCm38)	I1218N	probably damaging	Het
Serinc1	A	G	10: 57,523,208 (GRCm38)	S200P	probably damaging	Het
Serpinb9f	T	A	13: 33,334,591 (GRCm38)	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,997,245 (GRCm38)		probably null	Het
Slc5a4b	T	C	10: 76,070,628 (GRCm38)	M386V	possibly damaging	Het
Smarca5	A	G	8: 80,704,700 (GRCm38)	F963L	probably benign	Het
Smchd1	A	T	17: 71,411,891 (GRCm38)	F828I	probably benign	Het
Stab2	G	T	10: 86,897,960 (GRCm38)	Q1333K	probably benign	Het
Svop	T	C	5: 114,038,539 (GRCm38)	S349G	probably benign	Het
Tdrd1	G	A	19: 56,842,566 (GRCm38)	S271N	probably benign	Het
Tec	G	A	5: 72,783,738 (GRCm38)	P159S	probably benign	Het
Tec	T	C	5: 72,763,556 (GRCm38)		probably benign	Het
Tfip11	G	A	5: 112,335,655 (GRCm38)	M645I	probably benign	Het
Thap12	A	T	7: 98,715,281 (GRCm38)	T219S	probably benign	Het
Tmem87a	C	T	2: 120,375,507 (GRCm38)	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,343,745 (GRCm38)	Y227H	probably damaging	Het
Urah	G	A	7: 140,837,689 (GRCm38)	V114I	probably benign	Het
Wnt5a	G	A	14: 28,522,854 (GRCm38)	E353K	probably damaging	Het
Zfp101	A	T	17: 33,380,978 (GRCm38)	H601Q	possibly damaging	Het

Other mutations in Rubcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Rubcn	APN	16	32,824,377 (GRCm38)	critical splice donor site	probably null
IGL00777:Rubcn	APN	16	32,836,563 (GRCm38)	missense	probably damaging	0.98
IGL01402:Rubcn	APN	16	32,827,296 (GRCm38)	missense	probably damaging	1.00
IGL01404:Rubcn	APN	16	32,827,296 (GRCm38)	missense	probably damaging	1.00
IGL02255:Rubcn	APN	16	32,827,345 (GRCm38)	missense	probably benign	0.04
IGL03019:Rubcn	APN	16	32,826,707 (GRCm38)	missense	probably damaging	0.98
IGL03388:Rubcn	APN	16	32,841,568 (GRCm38)	missense	probably benign	0.02
R0373:Rubcn	UTSW	16	32,835,980 (GRCm38)	missense	probably damaging	1.00
R0636:Rubcn	UTSW	16	32,828,686 (GRCm38)	missense	probably damaging	1.00
R0839:Rubcn	UTSW	16	32,827,343 (GRCm38)	missense	probably damaging	0.98
R0967:Rubcn	UTSW	16	32,825,717 (GRCm38)	missense	probably benign	0.00
R1711:Rubcn	UTSW	16	32,843,101 (GRCm38)	missense	probably damaging	1.00
R1819:Rubcn	UTSW	16	32,826,914 (GRCm38)	missense	possibly damaging	0.93
R1840:Rubcn	UTSW	16	32,826,172 (GRCm38)	missense	possibly damaging	0.83
R2511:Rubcn	UTSW	16	32,847,254 (GRCm38)	missense	probably damaging	1.00
R3932:Rubcn	UTSW	16	32,829,259 (GRCm38)	splice site	probably null
R3933:Rubcn	UTSW	16	32,829,259 (GRCm38)	splice site	probably null
R4384:Rubcn	UTSW	16	32,856,902 (GRCm38)	missense	probably damaging	0.96
R4788:Rubcn	UTSW	16	32,836,408 (GRCm38)	critical splice donor site	probably null
R4852:Rubcn	UTSW	16	32,843,308 (GRCm38)	missense	probably damaging	1.00
R4921:Rubcn	UTSW	16	32,847,294 (GRCm38)	missense	probably damaging	1.00
R4950:Rubcn	UTSW	16	32,843,193 (GRCm38)	missense	probably damaging	1.00
R5234:Rubcn	UTSW	16	32,836,458 (GRCm38)	missense	probably damaging	1.00
R5527:Rubcn	UTSW	16	32,826,711 (GRCm38)	missense	probably damaging	1.00
R5616:Rubcn	UTSW	16	32,826,923 (GRCm38)	missense	possibly damaging	0.76
R5823:Rubcn	UTSW	16	32,849,721 (GRCm38)	missense	probably damaging	0.98
R6970:Rubcn	UTSW	16	32,868,144 (GRCm38)	intron	probably benign
R7120:Rubcn	UTSW	16	32,836,469 (GRCm38)	missense	probably damaging	1.00
R7121:Rubcn	UTSW	16	32,836,469 (GRCm38)	missense	probably damaging	1.00
R7221:Rubcn	UTSW	16	32,866,923 (GRCm38)	splice site	probably null
R7833:Rubcn	UTSW	16	32,868,274 (GRCm38)	start gained	probably benign
R8108:Rubcn	UTSW	16	32,856,950 (GRCm38)	missense	probably damaging	1.00
R8211:Rubcn	UTSW	16	32,836,543 (GRCm38)	missense	possibly damaging	0.87
R8923:Rubcn	UTSW	16	32,825,679 (GRCm38)	missense	probably damaging	1.00
R9046:Rubcn	UTSW	16	32,841,570 (GRCm38)	missense	probably benign	0.00
R9587:Rubcn	UTSW	16	32,843,309 (GRCm38)	missense	probably damaging	1.00
R9694:Rubcn	UTSW	16	32,843,111 (GRCm38)	missense	probably benign	0.22
X0065:Rubcn	UTSW	16	32,847,985 (GRCm38)	missense	possibly damaging	0.85
Z1176:Rubcn	UTSW	16	32,843,163 (GRCm38)	missense	probably benign	0.00
Z1177:Rubcn	UTSW	16	32,825,589 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGTGGAGCAACACAGGAATACC -3'
(R):5'- TCAAGAGGTCACAGCCCTTTGAGTC -3'

Sequencing Primer
(F):5'- GACGCTGGCTTCAAAAGTACTAC -3'
(R):5'- GGCCTGATAGAGTAGAAAATCCATCC -3'

Posted On

2013-05-09