Incidental Mutation 'R8923:Rubcn'
ID 679419
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 068768-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # R8923 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 32642072-32698121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32646049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 828 (T828K)
Ref Sequence ENSEMBL: ENSMUSP00000087114 (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: T813K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629
AA Change: T813K

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: T828K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629
AA Change: T828K

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: T799K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629
AA Change: T799K

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: T752K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629
AA Change: T752K

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 probably damaging
Transcript: ENSMUST00000231478
AA Change: T828K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000232269
AA Change: T813K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (53/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 A G 7: 144,204,288 (GRCm39) Y308H possibly damaging Het
Ano6 T C 15: 95,811,428 (GRCm39) I176T probably damaging Het
Ap3b2 T C 7: 81,126,931 (GRCm39) E273G probably benign Het
Arid1a A G 4: 133,412,304 (GRCm39) I1245T unknown Het
Ash1l T C 3: 88,892,974 (GRCm39) S1618P possibly damaging Het
Atp5f1e G T 2: 174,304,309 (GRCm39) S49* probably null Het
Bsdc1 C T 4: 129,355,405 (GRCm39) probably benign Het
Ccni T C 5: 93,335,943 (GRCm39) H152R probably damaging Het
Cdk5 A G 5: 24,625,284 (GRCm39) V208A possibly damaging Het
Cmtm5 G A 14: 55,176,345 (GRCm39) D137N probably damaging Het
Cyp3a41b A G 5: 145,521,448 (GRCm39) M1T probably null Het
Cyp3a44 A T 5: 145,736,171 (GRCm39) V93E probably damaging Het
Dhrs2 A T 14: 55,478,309 (GRCm39) I241F probably benign Het
Dip2c A G 13: 9,673,901 (GRCm39) T1114A probably damaging Het
Dsel T C 1: 111,788,284 (GRCm39) I750M possibly damaging Het
Dync2h1 T C 9: 7,168,515 (GRCm39) K398E probably benign Het
Efcab12 G C 6: 115,787,982 (GRCm39) T660S possibly damaging Het
Ep400 A G 5: 110,831,864 (GRCm39) L2126P unknown Het
Ercc1 T A 7: 19,081,062 (GRCm39) probably benign Het
Flnc G T 6: 29,452,236 (GRCm39) D1687Y probably damaging Het
Frrs1 A T 3: 116,696,070 (GRCm39) I530F possibly damaging Het
Gp5 G T 16: 30,128,222 (GRCm39) L151I probably damaging Het
H2-Q5 A G 17: 35,613,982 (GRCm39) D177G Het
Itgal A T 7: 126,895,533 (GRCm39) probably benign Het
Klhl33 A T 14: 51,129,882 (GRCm39) C277* probably null Het
Lefty1 T A 1: 180,765,318 (GRCm39) C295* probably null Het
Lmo7 A T 14: 102,137,679 (GRCm39) T794S probably benign Het
Mss51 A G 14: 20,537,177 (GRCm39) M97T possibly damaging Het
Mtmr11 C T 3: 96,072,188 (GRCm39) P262S probably damaging Het
Muc15 A T 2: 110,562,212 (GRCm39) N216I probably damaging Het
Muc16 A T 9: 18,549,972 (GRCm39) D5440E probably benign Het
Myt1l A G 12: 29,960,800 (GRCm39) K1038E unknown Het
Naa15 G A 3: 51,367,443 (GRCm39) V539M probably damaging Het
Or10al2 A T 17: 37,983,702 (GRCm39) I263F probably benign Het
Or1e26 T C 11: 73,480,076 (GRCm39) I163V probably benign Het
Or5ac20 G C 16: 59,104,399 (GRCm39) L154V probably benign Het
Parpbp C T 10: 87,947,474 (GRCm39) V387I probably benign Het
Pbxip1 T C 3: 89,352,921 (GRCm39) I189T possibly damaging Het
Prkci T A 3: 31,095,250 (GRCm39) Y111* probably null Het
Prkd2 C G 7: 16,599,682 (GRCm39) T715R probably damaging Het
Rab40c A C 17: 26,102,664 (GRCm39) S262A probably benign Het
Rad51d A G 11: 82,773,798 (GRCm39) L164P probably damaging Het
Rgs22 T A 15: 36,093,106 (GRCm39) K513I probably damaging Het
Sdha G A 13: 74,487,179 (GRCm39) T203M probably damaging Het
Sesn3 T C 9: 14,217,562 (GRCm39) probably null Het
Spag8 T A 4: 43,651,471 (GRCm39) T468S probably damaging Het
Spdl1 T C 11: 34,704,478 (GRCm39) K452E possibly damaging Het
Stat5a T C 11: 100,771,308 (GRCm39) F597S Het
Sult1b1 A C 5: 87,662,893 (GRCm39) F269C probably damaging Het
Ubap1 A G 4: 41,379,170 (GRCm39) N128S probably benign Het
Utp20 G A 10: 88,627,604 (GRCm39) Q954* probably null Het
Vmn1r173 T A 7: 23,401,768 (GRCm39) M1K probably null Het
Wdfy1 A G 1: 79,684,017 (GRCm39) S373P probably benign Het
Other mutations in Rubcn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCCGCATGAGGAGCTAAATG -3'
(R):5'- AATACCTGGGCTGGCTGAAC -3'

Sequencing Primer
(F):5'- GGAGCTAAATGACAGGAACCC -3'
(R):5'- GCTGGCTGAACGTCTTTGTCC -3'
Posted On 2021-08-02