Incidental Mutation 'IGL01404:Rubcn'
ID278393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rubcn
Ensembl Gene ENSMUSG00000035629
Gene NameRUN domain and cysteine-rich domain containing, Beclin 1-interacting protein
Synonyms1700021K19Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.933) question?
Stock #IGL01404
Quality Score
Status
Chromosome16
Chromosomal Location32821703-32877766 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 32827296 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 636 (T636M)
Ref Sequence ENSEMBL: ENSMUSP00000113087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040986] [ENSMUST00000089684] [ENSMUST00000115105] [ENSMUST00000119810] [ENSMUST00000231478] [ENSMUST00000232269]
Predicted Effect probably damaging
Transcript: ENSMUST00000040986
AA Change: T697M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629
AA Change: T697M

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 damaging
Transcript: ENSMUST00000089684
AA Change: T712M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629
AA Change: T712M

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 damaging
Transcript: ENSMUST00000115105
AA Change: T683M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629
AA Change: T683M

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 damaging
Transcript: ENSMUST00000119810
AA Change: T636M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629
AA Change: T636M

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 damaging
Transcript: ENSMUST00000231478
AA Change: T712M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000232269
AA Change: T697M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,164,378 probably null Het
4921524L21Rik T C 18: 6,638,653 S351P possibly damaging Het
Ablim3 A G 18: 61,871,683 Y12H probably damaging Het
Adam2 C T 14: 66,077,210 probably null Het
Adgre4 A T 17: 55,797,639 N235I possibly damaging Het
Aldh3b1 A C 19: 3,921,205 V153G probably benign Het
B430306N03Rik A G 17: 48,321,073 Y177C probably damaging Het
Cast A T 13: 74,738,287 Y249* probably null Het
Cfap43 T C 19: 47,795,666 D476G probably benign Het
Cpa4 T C 6: 30,581,702 I216T possibly damaging Het
Cpeb3 T C 19: 37,088,548 D407G probably benign Het
Ctnnal1 T C 4: 56,829,590 D413G probably damaging Het
Cyb5a A G 18: 84,877,860 S84G probably benign Het
Dpy19l4 C A 4: 11,273,006 probably null Het
Erbin A T 13: 103,839,464 S641T probably damaging Het
Espn T A 4: 152,138,444 T326S probably benign Het
Extl1 T C 4: 134,359,203 M514V probably benign Het
Fancc G A 13: 63,361,638 L134F probably damaging Het
Fis1 C T 5: 136,965,974 A90V probably benign Het
Gdi2 A G 13: 3,564,611 T319A probably benign Het
Gjc3 A G 5: 137,957,858 F55S probably damaging Het
Gm10762 C T 2: 128,967,085 probably benign Het
Got1 A G 19: 43,504,609 I291T possibly damaging Het
Gpr179 C A 11: 97,338,186 G1048* probably null Het
Ino80 T A 2: 119,456,718 D56V possibly damaging Het
Kcp C A 6: 29,496,639 C624F probably damaging Het
Kctd1 T A 18: 14,969,553 Q857L probably damaging Het
Lins1 G A 7: 66,713,928 V524I probably damaging Het
Lrp1 A T 10: 127,595,032 Y383N probably damaging Het
Mgam A C 6: 40,644,945 K84Q probably benign Het
Mib2 T A 4: 155,654,936 E862V probably damaging Het
Myh1 G T 11: 67,222,151 R1827L possibly damaging Het
Myh10 T C 11: 68,752,040 probably null Het
Myo1e A G 9: 70,337,766 Y382C probably benign Het
Nktr G A 9: 121,741,152 probably null Het
Nlrc4 A G 17: 74,445,711 I559T probably damaging Het
Nod2 A T 8: 88,663,736 M224L probably benign Het
Olfr175-ps1 G A 16: 58,824,595 T38I probably damaging Het
Olfr658 A T 7: 104,644,480 Y295* probably null Het
Olfr984 A G 9: 40,101,262 I76T probably benign Het
Pex7 G T 10: 19,894,811 probably benign Het
Ptprb A T 10: 116,339,436 D1112V probably benign Het
Scn5a A C 9: 119,486,470 L1724R probably damaging Het
Sec14l2 T C 11: 4,116,710 D34G possibly damaging Het
Serpina3k A G 12: 104,340,623 D38G probably benign Het
Sh3bgr A C 16: 96,206,490 K18N probably damaging Het
Sh3bp5l A T 11: 58,346,060 H281L probably benign Het
Slc28a2 T G 2: 122,452,057 I287M probably damaging Het
Slc2a1 T A 4: 119,132,238 M45K possibly damaging Het
Syt11 A G 3: 88,762,216 I123T probably benign Het
Tfg C A 16: 56,694,493 probably benign Het
Tmem177 T C 1: 119,910,061 D296G probably damaging Het
Trabd2b A G 4: 114,599,956 I357V probably benign Het
Trp63 C A 16: 25,820,385 probably benign Het
Ugt1a8 T C 1: 88,087,895 L10P probably benign Het
Vmn2r103 A G 17: 19,812,434 I823M probably damaging Het
Vmn2r45 T C 7: 8,481,468 N446S probably damaging Het
Vps13c A T 9: 67,913,204 probably null Het
Vwa3b C T 1: 37,154,036 T11I probably benign Het
Vwf A C 6: 125,677,970 Q2543P probably damaging Het
Yap1 G A 9: 7,934,741 probably benign Het
Zfp282 A C 6: 47,897,836 D325A probably damaging Het
Zfyve9 T G 4: 108,682,151 Y975S probably damaging Het
Other mutations in Rubcn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 intron probably null
R7833:Rubcn UTSW 16 32868274 start gained probably benign
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
Posted On2015-04-16