Incidental Mutation 'R2911:Rubcnl'
ID 261266
Institutional Source Beutler Lab
Gene Symbol Rubcnl
Ensembl Gene ENSMUSG00000034959
Gene Name RUN and cysteine rich domain containing beclin 1 interacting protein like
Synonyms 5031414D18Rik, LOC380917
MMRRC Submission 040498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R2911 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 75253467-75289972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75278248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 344 (T344I)
Ref Sequence ENSEMBL: ENSMUSP00000045566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036072]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036072
AA Change: T344I

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000045566
Gene: ENSMUSG00000034959
AA Change: T344I

DomainStartEndE-ValueType
DUF4206 463 664 1.01e-108 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228689
Meta Mutation Damage Score 0.2333 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,378,982 (GRCm39) T645A probably damaging Het
Adam10 C T 9: 70,626,005 (GRCm39) S91L probably damaging Het
Ahnak A G 19: 8,989,018 (GRCm39) D3434G probably damaging Het
Ankrd11 A T 8: 123,635,537 (GRCm39) D32E probably damaging Het
Cacna1b A T 2: 24,497,553 (GRCm39) probably null Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cep104 T A 4: 154,079,884 (GRCm39) probably null Het
Clstn2 A G 9: 97,414,775 (GRCm39) V373A probably damaging Het
Cyp2c65 T G 19: 39,076,126 (GRCm39) I359M probably damaging Het
Cyp4a12b A T 4: 115,290,723 (GRCm39) K282* probably null Het
Ddx1 C T 12: 13,281,441 (GRCm39) probably null Het
Dnah7a A T 1: 53,466,983 (GRCm39) probably null Het
Dzip1l T C 9: 99,537,655 (GRCm39) V419A probably benign Het
Epha3 A C 16: 63,472,775 (GRCm39) V370G probably benign Het
Fbxo38 T C 18: 62,652,878 (GRCm39) D523G probably benign Het
Fryl T C 5: 73,207,799 (GRCm39) D2457G probably damaging Het
Gm379 A C X: 107,708,371 (GRCm39) F43V possibly damaging Het
Grhl3 T C 4: 135,286,457 (GRCm39) I75V probably benign Het
Lcp2 G A 11: 34,018,970 (GRCm39) probably null Het
Lipo3 T A 19: 33,556,767 (GRCm39) I220F probably benign Het
Lrp1b T C 2: 41,396,704 (GRCm39) E340G probably benign Het
Lypd8l G A 11: 58,499,252 (GRCm39) Q189* probably null Het
Mbtps1 A G 8: 120,272,776 (GRCm39) I123T possibly damaging Het
Ndc80 A T 17: 71,807,371 (GRCm39) S528R probably benign Het
Odf2l A C 3: 144,830,084 (GRCm39) I19L probably benign Het
Or10d3 T C 9: 39,462,117 (GRCm39) I17V possibly damaging Het
Or5h25 C T 16: 58,930,544 (GRCm39) R143H probably benign Het
Or7e177 A G 9: 20,211,775 (GRCm39) K94R possibly damaging Het
Pigr A G 1: 130,777,270 (GRCm39) D692G probably damaging Het
Reep2 T C 18: 34,978,743 (GRCm39) probably null Het
Rin3 T G 12: 102,339,843 (GRCm39) S598A probably benign Het
Rreb1 A T 13: 38,132,896 (GRCm39) E1690D probably benign Het
Shcbp1l C A 1: 153,304,372 (GRCm39) L144I probably damaging Het
Snx2 C T 18: 53,332,946 (GRCm39) P207S probably damaging Het
Sox17 A T 1: 4,563,354 (GRCm39) D92E probably damaging Het
Spata21 A G 4: 140,830,393 (GRCm39) M288V possibly damaging Het
Sra1 T C 18: 36,809,238 (GRCm39) D273G possibly damaging Het
Syt7 T C 19: 10,420,799 (GRCm39) I448T probably benign Het
Tac1 A G 6: 7,559,097 (GRCm39) probably null Het
Tgs1 C A 4: 3,585,616 (GRCm39) N164K probably benign Het
Tmem72 T A 6: 116,675,292 (GRCm39) I67F possibly damaging Het
Ythdc1 T C 5: 86,964,418 (GRCm39) S88P possibly damaging Het
Other mutations in Rubcnl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02571:Rubcnl APN 14 75,269,576 (GRCm39) missense possibly damaging 0.75
IGL02730:Rubcnl APN 14 75,287,588 (GRCm39) missense probably damaging 1.00
R0019:Rubcnl UTSW 14 75,285,703 (GRCm39) splice site probably benign
R0147:Rubcnl UTSW 14 75,279,898 (GRCm39) missense probably damaging 1.00
R0148:Rubcnl UTSW 14 75,279,898 (GRCm39) missense probably damaging 1.00
R0350:Rubcnl UTSW 14 75,278,331 (GRCm39) missense probably damaging 0.99
R0487:Rubcnl UTSW 14 75,273,521 (GRCm39) missense probably benign 0.18
R0558:Rubcnl UTSW 14 75,284,987 (GRCm39) missense probably damaging 1.00
R1537:Rubcnl UTSW 14 75,278,267 (GRCm39) missense possibly damaging 0.92
R1791:Rubcnl UTSW 14 75,284,989 (GRCm39) missense probably damaging 1.00
R1871:Rubcnl UTSW 14 75,279,849 (GRCm39) missense possibly damaging 0.58
R2227:Rubcnl UTSW 14 75,279,832 (GRCm39) missense probably benign 0.00
R2263:Rubcnl UTSW 14 75,278,260 (GRCm39) missense possibly damaging 0.93
R2910:Rubcnl UTSW 14 75,278,248 (GRCm39) missense probably benign 0.06
R3826:Rubcnl UTSW 14 75,269,665 (GRCm39) missense possibly damaging 0.72
R3870:Rubcnl UTSW 14 75,278,356 (GRCm39) missense probably benign 0.00
R3871:Rubcnl UTSW 14 75,278,356 (GRCm39) missense probably benign 0.00
R4007:Rubcnl UTSW 14 75,287,143 (GRCm39) missense possibly damaging 0.93
R4161:Rubcnl UTSW 14 75,281,898 (GRCm39) missense possibly damaging 0.82
R5004:Rubcnl UTSW 14 75,269,617 (GRCm39) nonsense probably null
R5041:Rubcnl UTSW 14 75,287,572 (GRCm39) missense probably damaging 1.00
R5468:Rubcnl UTSW 14 75,269,471 (GRCm39) missense possibly damaging 0.49
R5495:Rubcnl UTSW 14 75,279,777 (GRCm39) missense possibly damaging 0.61
R5739:Rubcnl UTSW 14 75,278,381 (GRCm39) splice site probably null
R5910:Rubcnl UTSW 14 75,272,912 (GRCm39) missense probably benign 0.26
R5948:Rubcnl UTSW 14 75,285,056 (GRCm39) missense probably damaging 1.00
R6038:Rubcnl UTSW 14 75,269,410 (GRCm39) missense probably benign 0.00
R6038:Rubcnl UTSW 14 75,269,410 (GRCm39) missense probably benign 0.00
R6197:Rubcnl UTSW 14 75,269,369 (GRCm39) missense probably damaging 0.99
R6297:Rubcnl UTSW 14 75,287,584 (GRCm39) missense probably benign 0.06
R6372:Rubcnl UTSW 14 75,285,009 (GRCm39) missense probably damaging 0.99
R6376:Rubcnl UTSW 14 75,269,834 (GRCm39) missense probably benign 0.01
R6377:Rubcnl UTSW 14 75,287,635 (GRCm39) splice site probably null
R6724:Rubcnl UTSW 14 75,289,450 (GRCm39) missense probably benign 0.00
R6884:Rubcnl UTSW 14 75,272,910 (GRCm39) missense probably benign 0.23
R7183:Rubcnl UTSW 14 75,287,066 (GRCm39) missense probably damaging 0.97
R7186:Rubcnl UTSW 14 75,269,453 (GRCm39) missense possibly damaging 0.91
R7345:Rubcnl UTSW 14 75,279,793 (GRCm39) missense probably benign
R7423:Rubcnl UTSW 14 75,287,083 (GRCm39) missense probably benign 0.09
R7548:Rubcnl UTSW 14 75,279,792 (GRCm39) missense probably benign
R7606:Rubcnl UTSW 14 75,276,314 (GRCm39) missense probably benign 0.41
R7699:Rubcnl UTSW 14 75,269,404 (GRCm39) missense probably benign
R7781:Rubcnl UTSW 14 75,269,530 (GRCm39) missense probably damaging 1.00
R8406:Rubcnl UTSW 14 75,289,425 (GRCm39) missense probably damaging 1.00
R8832:Rubcnl UTSW 14 75,269,359 (GRCm39) missense
R9053:Rubcnl UTSW 14 75,269,717 (GRCm39) missense possibly damaging 0.78
R9763:Rubcnl UTSW 14 75,287,108 (GRCm39) nonsense probably null
RF011:Rubcnl UTSW 14 75,281,878 (GRCm39) missense probably damaging 0.99
Z1176:Rubcnl UTSW 14 75,273,637 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AGGATTTGAACTCTGCTTTTCTGAC -3'
(R):5'- TGACTGCTCATATCCATTTTGAGAC -3'

Sequencing Primer
(F):5'- GCTTTTCTGACTTTAAATGCAGTAC -3'
(R):5'- GCCAGTGAGAAATCAAGAACATTTC -3'
Posted On 2015-01-23