Incidental Mutation 'IGL00654:Rubcn'
ID 8421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rubcn
Ensembl Gene ENSMUSG00000035629
Gene Name RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein
Synonyms 1700021K19Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # IGL00654
Quality Score
Status
Chromosome 16
Chromosomal Location 32642072-32698121 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 32644747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040986] [ENSMUST00000040986] [ENSMUST00000089684] [ENSMUST00000115105] [ENSMUST00000119810] [ENSMUST00000232269] [ENSMUST00000231478]
AlphaFold Q80U62
Predicted Effect probably null
Transcript: ENSMUST00000040986
SMART Domains Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000040986
SMART Domains Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000089684
SMART Domains Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000115105
SMART Domains Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000119810
SMART Domains Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000232269
Predicted Effect probably null
Transcript: ENSMUST00000231478
Coding Region Coverage
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 T C 14: 68,886,877 (GRCm39) T46A probably benign Het
Cmya5 G A 13: 93,230,669 (GRCm39) S1473L probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Dcbld1 A C 10: 52,188,945 (GRCm39) I186L probably benign Het
Dgkh A C 14: 78,847,033 (GRCm39) M367R possibly damaging Het
Myb T C 10: 21,017,725 (GRCm39) D622G probably damaging Het
Nbeal1 A G 1: 60,234,170 (GRCm39) probably benign Het
Nlrp14 G T 7: 106,795,351 (GRCm39) L211F probably damaging Het
Pbrm1 T A 14: 30,754,361 (GRCm39) probably benign Het
Pcdhb13 A T 18: 37,576,774 (GRCm39) D384V possibly damaging Het
Ppl T C 16: 4,905,172 (GRCm39) I1708V possibly damaging Het
Prdx1 G A 4: 116,550,162 (GRCm39) D115N probably benign Het
Prdx1 C T 4: 116,550,147 (GRCm39) R110C probably benign Het
Prep C T 10: 44,991,269 (GRCm39) R312W probably damaging Het
Rpap2 A T 5: 107,751,497 (GRCm39) probably benign Het
Sumf2 G T 5: 129,882,918 (GRCm39) probably benign Het
Tek A G 4: 94,715,538 (GRCm39) T359A probably benign Het
Thrap3 C T 4: 126,059,371 (GRCm39) G892S probably benign Het
Tlr12 C T 4: 128,511,233 (GRCm39) G339E probably benign Het
Usp39 A G 6: 72,305,607 (GRCm39) L392P probably damaging Het
Wbp2nl T C 15: 82,198,411 (GRCm39) V316A probably benign Het
Other mutations in Rubcn
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0373:Rubcn UTSW 16 32,656,350 (GRCm39) missense probably damaging 1.00
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
Posted On 2012-12-06