Incidental Mutation 'IGL02251:Armc6'
ID286395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Armc6
Ensembl Gene ENSMUSG00000002343
Gene Namearmadillo repeat containing 6
Synonyms2410153K17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #IGL02251
Quality Score
Status
Chromosome8
Chromosomal Location70220172-70234466 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 70225220 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 153 (L153*)
Ref Sequence ENSEMBL: ENSMUSP00000019679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019679] [ENSMUST00000130319]
Predicted Effect probably null
Transcript: ENSMUST00000019679
AA Change: L153*
SMART Domains Protein: ENSMUSP00000019679
Gene: ENSMUSG00000002343
AA Change: L153*

DomainStartEndE-ValueType
Blast:UTG 14 77 2e-26 BLAST
ARM 140 182 8.74e1 SMART
ARM 184 226 3.64e-7 SMART
ARM 237 280 6.01e0 SMART
ARM 281 323 1.13e-3 SMART
ARM 324 366 8.3e-2 SMART
ARM 368 410 1.06e1 SMART
Blast:ARM 438 468 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000130319
SMART Domains Protein: ENSMUSP00000116811
Gene: ENSMUSG00000002343

DomainStartEndE-ValueType
Blast:UTG 14 78 8e-30 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147387
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,977,416 C1406R probably damaging Het
Acp2 T A 2: 91,208,333 probably null Het
Antxr2 A C 5: 97,977,595 probably null Het
Arhgef11 C T 3: 87,683,547 R32C probably damaging Het
Btnl2 G T 17: 34,363,239 G260* probably null Het
Ccnf A G 17: 24,226,539 S551P probably benign Het
Cdh19 A G 1: 110,954,652 S37P probably benign Het
Cntnap3 T A 13: 64,762,036 T752S probably damaging Het
Crispld1 A G 1: 17,728,840 M62V probably benign Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Dner G T 1: 84,384,026 Q621K probably damaging Het
Dph6 A G 2: 114,535,523 probably null Het
Dpp3 T G 19: 4,918,315 H243P probably benign Het
Eif3j2 T A 18: 43,477,366 K127N probably damaging Het
Esrp1 G A 4: 11,361,202 R315C probably damaging Het
Fam35a T C 14: 34,268,278 R224G probably benign Het
Gm973 A C 1: 59,582,423 H574P probably benign Het
Gprasp1 G A X: 135,800,539 V494I probably benign Het
Hbb-bh1 T A 7: 103,842,810 K66* probably null Het
Hoxb9 T A 11: 96,274,825 M240K probably damaging Het
Irf2 T C 8: 46,807,753 probably null Het
Lgi4 A G 7: 31,067,263 probably null Het
Mylk3 C T 8: 85,355,176 V328M probably benign Het
Nf2 T C 11: 4,848,873 E38G probably null Het
Olfr1286 A C 2: 111,420,312 L213R probably damaging Het
Olfr606 A T 7: 103,451,771 K145* probably null Het
Pdpk1 A G 17: 24,079,638 F346L probably damaging Het
Prex1 T C 2: 166,577,886 Y1120C probably damaging Het
Rab3gap1 A G 1: 127,937,500 T742A probably benign Het
Scai A T 2: 39,099,417 D401E probably benign Het
Scd1 T C 19: 44,398,094 H298R probably damaging Het
Slc45a1 A G 4: 150,638,719 probably benign Het
Smim10l1 G T 6: 133,105,508 R6L probably damaging Het
Spag5 T G 11: 78,320,034 F921C probably damaging Het
Sun1 T C 5: 139,241,431 S667P probably damaging Het
Tas2r124 A G 6: 132,755,561 I278V probably benign Het
Thbs1 G A 2: 118,113,518 D206N probably benign Het
Trim37 T A 11: 87,167,430 probably benign Het
Vcp T C 4: 42,988,728 T249A possibly damaging Het
Vmn2r103 A G 17: 19,793,969 N341S possibly damaging Het
Zmat3 A G 3: 32,345,583 probably benign Het
Other mutations in Armc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03090:Armc6 APN 8 70231354 missense probably benign 0.00
R1449:Armc6 UTSW 8 70225293 missense probably benign 0.01
R1557:Armc6 UTSW 8 70225448 missense possibly damaging 0.75
R1689:Armc6 UTSW 8 70229537 missense probably benign
R3054:Armc6 UTSW 8 70225149 missense probably benign 0.12
R4368:Armc6 UTSW 8 70225293 missense probably benign 0.01
R6654:Armc6 UTSW 8 70231375 missense probably damaging 0.99
R7726:Armc6 UTSW 8 70222598 missense probably damaging 1.00
X0022:Armc6 UTSW 8 70222542 missense probably benign 0.20
Posted On2015-04-16