Incidental Mutation 'R1711:Rubcn'
ID 190621
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 039744-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # R1711 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 32642072-32698121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 32663471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 388 (R388S)
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: R388S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048811
Gene: ENSMUSG00000035629
AA Change: R388S

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: R388S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087114
Gene: ENSMUSG00000035629
AA Change: R388S

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: R374S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110757
Gene: ENSMUSG00000035629
AA Change: R374S

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: R327S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113087
Gene: ENSMUSG00000035629
AA Change: R327S

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 probably damaging
Transcript: ENSMUST00000231478
AA Change: R388S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000232269
AA Change: R388S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.6%
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: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,418,039 (GRCm39) T741I possibly damaging Het
Aadacl4fm2 A T 4: 144,281,976 (GRCm39) I272K probably damaging Het
Acot3 A T 12: 84,100,347 (GRCm39) Q41L probably damaging Het
Actl7b G A 4: 56,740,165 (GRCm39) Q398* probably null Het
Adgrb2 C A 4: 129,886,417 (GRCm39) Q186K probably damaging Het
Akr1a1 A G 4: 116,495,171 (GRCm39) probably null Het
Ap3s2 A T 7: 79,530,238 (GRCm39) F192L probably damaging Het
Apobr T G 7: 126,184,151 (GRCm39) probably null Het
Arhgap5 A G 12: 52,566,128 (GRCm39) N1033S probably damaging Het
Arid3c G T 4: 41,725,947 (GRCm39) R219S probably damaging Het
Bves C T 10: 45,223,961 (GRCm39) T207M probably damaging Het
Cacna1d T C 14: 29,788,013 (GRCm39) K1619R probably damaging Het
Caps2 A T 10: 112,026,883 (GRCm39) D223V possibly damaging Het
Cd3g A C 9: 44,885,640 (GRCm39) L35R probably damaging Het
Cdh23 A T 10: 60,359,315 (GRCm39) V261E probably benign Het
Cfap54 T G 10: 92,846,882 (GRCm39) T1028P probably damaging Het
Ch25h C A 19: 34,451,686 (GRCm39) V281L probably benign Het
Cip2a A C 16: 48,837,849 (GRCm39) I850L probably benign Het
Clu G T 14: 66,218,354 (GRCm39) V405L possibly damaging Het
Col6a3 A T 1: 90,757,935 (GRCm39) H6Q probably damaging Het
Cps1 G A 1: 67,207,533 (GRCm39) probably null Het
Ctr9 T C 7: 110,654,870 (GRCm39) S1134P unknown Het
Cts7 C T 13: 61,500,624 (GRCm39) G308S probably damaging Het
Cyp2c39 C A 19: 39,555,335 (GRCm39) T385K probably damaging Het
Dennd5a A T 7: 109,517,919 (GRCm39) D596E probably benign Het
Disc1 T A 8: 125,851,349 (GRCm39) I413K probably benign Het
Dll3 C T 7: 27,993,922 (GRCm39) G505D probably damaging Het
Dnah3 A G 7: 119,677,794 (GRCm39) W377R probably damaging Het
Dop1b A G 16: 93,596,814 (GRCm39) D1792G probably damaging Het
Dpep3 T A 8: 106,700,325 (GRCm39) R460S probably benign Het
Ebf4 A G 2: 130,200,751 (GRCm39) N302S probably damaging Het
Efcab3 A G 11: 104,611,514 (GRCm39) K452R probably benign Het
Egflam T C 15: 7,319,396 (GRCm39) E194G possibly damaging Het
Ep400 A T 5: 110,841,174 (GRCm39) probably benign Het
Ercc6 T C 14: 32,248,133 (GRCm39) M228T probably damaging Het
Fbxo9 T C 9: 77,994,529 (GRCm39) T264A probably damaging Het
Fcrl5 C A 3: 87,364,721 (GRCm39) P486T possibly damaging Het
Fyb1 T C 15: 6,609,960 (GRCm39) F178L probably damaging Het
Gaa T A 11: 119,171,286 (GRCm39) I646N probably damaging Het
Gm5431 A T 11: 48,785,853 (GRCm39) V174E possibly damaging Het
Gnpat T G 8: 125,613,691 (GRCm39) probably null Het
Gucy1a2 G T 9: 3,759,622 (GRCm39) R476I probably benign Het
Hars1 A G 18: 36,904,156 (GRCm39) L241P probably damaging Het
Haus5 G A 7: 30,357,328 (GRCm39) Q399* probably null Het
Hephl1 T C 9: 14,970,542 (GRCm39) E984G probably damaging Het
Hmces C T 6: 87,898,574 (GRCm39) Q132* probably null Het
Hsp90b1 G T 10: 86,530,389 (GRCm39) T490K probably damaging Het
Idh2 T G 7: 79,748,906 (GRCm39) E125A probably damaging Het
Ipo13 G T 4: 117,761,719 (GRCm39) H465Q probably benign Het
Isca2 C A 12: 84,820,393 (GRCm39) T31K probably damaging Het
Itga9 T C 9: 118,527,529 (GRCm39) V560A probably benign Het
Jhy G A 9: 40,822,453 (GRCm39) Q562* probably null Het
Kcnj5 A G 9: 32,233,865 (GRCm39) I150T probably damaging Het
Kmt2a A G 9: 44,752,918 (GRCm39) I1419T unknown Het
Lix1 T C 17: 17,666,320 (GRCm39) F160L possibly damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Map4k1 A T 7: 28,688,777 (GRCm39) Q276L possibly damaging Het
Mmp9 G A 2: 164,791,342 (GRCm39) G171S probably damaging Het
Mvp C A 7: 126,594,907 (GRCm39) probably null Het
Mylk3 T A 8: 86,091,460 (GRCm39) E115V probably damaging Het
Nebl T A 2: 17,393,565 (GRCm39) T603S probably damaging Het
Nudt15 T C 14: 73,760,776 (GRCm39) D105G probably benign Het
Or12j2 A C 7: 139,915,912 (GRCm39) T46P possibly damaging Het
Or2w1b G A 13: 21,300,476 (GRCm39) V205I probably benign Het
Or51b6 T A 7: 103,555,906 (GRCm39) W87R probably damaging Het
Or52i2 G T 7: 102,319,369 (GRCm39) V81L probably damaging Het
Or52l1 A T 7: 104,829,967 (GRCm39) H199Q probably damaging Het
Or8g2b A G 9: 39,751,581 (GRCm39) M284V probably benign Het
Osbpl9 A T 4: 108,923,415 (GRCm39) C495S probably damaging Het
Pamr1 A G 2: 102,471,197 (GRCm39) T507A probably benign Het
Pcdhb9 T A 18: 37,536,380 (GRCm39) C791* probably null Het
Pcgf6 T C 19: 47,038,957 (GRCm39) E101G probably damaging Het
Pdgfrl A T 8: 41,438,831 (GRCm39) I256F probably benign Het
Pdzd7 T C 19: 45,033,950 (GRCm39) R45G possibly damaging Het
Pecr C T 1: 72,316,568 (GRCm39) V46I possibly damaging Het
Pgr A G 9: 8,922,715 (GRCm39) probably null Het
Pik3c2a A T 7: 116,017,162 (GRCm39) Y198* probably null Het
Pp2d1 T A 17: 53,822,338 (GRCm39) M243L possibly damaging Het
Ppp1r1a T A 15: 103,441,919 (GRCm39) I50L possibly damaging Het
Proc T C 18: 32,260,459 (GRCm39) D222G probably benign Het
Ptprq T A 10: 107,370,560 (GRCm39) R2044* probably null Het
Ranbp2 T C 10: 58,296,341 (GRCm39) V326A probably benign Het
Reep6 T A 10: 80,169,815 (GRCm39) F122I possibly damaging Het
Rusc1 A G 3: 88,996,600 (GRCm39) L62P probably damaging Het
Satb2 T C 1: 56,889,448 (GRCm39) N423S probably damaging Het
Scart1 G T 7: 139,800,522 (GRCm39) C101F probably damaging Het
Serpinb9d A G 13: 33,384,731 (GRCm39) K236R probably benign Het
Slc4a7 A G 14: 14,765,709 (GRCm38) R680G probably benign Het
Slitrk1 T A 14: 109,150,528 (GRCm39) Y61F probably benign Het
Son A G 16: 91,457,114 (GRCm39) probably benign Het
Sparc T A 11: 55,286,602 (GRCm39) probably null Het
Spon2 A G 5: 33,373,729 (GRCm39) F194S probably damaging Het
Spta1 A G 1: 174,068,608 (GRCm39) E2136G probably damaging Het
Stat4 T C 1: 52,146,084 (GRCm39) S746P probably damaging Het
Stk31 T A 6: 49,446,238 (GRCm39) S958R probably benign Het
Stom T A 2: 35,205,929 (GRCm39) I267F probably damaging Het
Stx12 A T 4: 132,585,788 (GRCm39) D197E probably damaging Het
Taok3 A T 5: 117,393,991 (GRCm39) N588I possibly damaging Het
Tgs1 A G 4: 3,598,658 (GRCm39) D657G probably damaging Het
Trim6 A G 7: 103,882,044 (GRCm39) T432A probably damaging Het
Trim72 C G 7: 127,603,757 (GRCm39) C34W probably damaging Het
Trpc4ap A T 2: 155,499,664 (GRCm39) I286N probably benign Het
Ttn A G 2: 76,693,905 (GRCm39) V321A possibly damaging Het
Utp4 T A 8: 107,645,352 (GRCm39) I583N probably damaging Het
Wdfy2 G T 14: 63,181,546 (GRCm39) M225I probably benign Het
Wfdc1 A G 8: 120,407,776 (GRCm39) T134A probably benign Het
Wnt9b A G 11: 103,622,954 (GRCm39) S150P probably damaging Het
Zbtb46 A T 2: 181,053,477 (GRCm39) F412I probably damaging Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp11 A T 5: 129,733,737 (GRCm39) Y575N probably benign Het
Zfp687 T C 3: 94,919,200 (GRCm39) M191V 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
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'- ACAGAGCATCATGTCATGCAGGAAC -3'
(R):5'- ATGAGCGACAGCACTCTGACTAGC -3'

Sequencing Primer
(F):5'- CATGTCATGCAGGAACATTTCTTC -3'
(R):5'- AGAATGACTCCCCAAGTGATG -3'
Posted On 2014-05-14