Incidental Mutation 'IGL00837:Armc1'
ID9052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Armc1
Ensembl Gene ENSMUSG00000027599
Gene Namearmadillo repeat containing 1
Synonyms2310016N05Rik, C330014L16Rik, 2900046P06Rik, Arcp, 3110009G21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.165) question?
Stock #IGL00837
Quality Score
Status
Chromosome3
Chromosomal Location19131402-19163065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 19144420 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 125 (N125K)
Ref Sequence ENSEMBL: ENSMUSP00000029125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029125]
Predicted Effect probably benign
Transcript: ENSMUST00000029125
AA Change: N125K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029125
Gene: ENSMUSG00000027599
AA Change: N125K

DomainStartEndE-ValueType
Pfam:Arm 27 68 1.1e-6 PFAM
SCOP:d1fvqa_ 142 203 6e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193065
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 T C 6: 55,461,620 probably benign Het
Adig T A 2: 158,502,789 F16Y possibly damaging Het
Alox12e T C 11: 70,321,054 T210A probably benign Het
Ankfy1 T A 11: 72,755,898 probably benign Het
Aoc1 T A 6: 48,908,664 I701N possibly damaging Het
Bcl2a1c A T 9: 114,330,492 T113S probably benign Het
Cdh10 A T 15: 19,013,404 I697L probably benign Het
Cep350 A T 1: 155,953,391 S256T probably damaging Het
Chd6 T C 2: 161,042,079 N82S probably benign Het
Gart T C 16: 91,638,720 probably benign Het
Gtf3c6 A G 10: 40,254,474 probably benign Het
Igf1r T C 7: 68,201,352 probably benign Het
Mtmr6 T A 14: 60,280,217 Y92* probably null Het
Muc13 A T 16: 33,807,959 K360* probably null Het
Nfyc A G 4: 120,781,547 probably benign Het
Pole T A 5: 110,302,009 V774E possibly damaging Het
Rnf217 A G 10: 31,503,774 L484P probably damaging Het
Slc18a2 A T 19: 59,284,384 I373F probably benign Het
Slc5a9 A G 4: 111,893,690 probably benign Het
Tbc1d30 T C 10: 121,296,845 I205V probably damaging Het
Tfap2d A T 1: 19,119,206 D270V probably damaging Het
Tmem63c G A 12: 87,077,197 S483N probably benign Het
Tor1aip1 T A 1: 156,006,916 probably benign Het
Tsga10 A C 1: 37,801,911 probably benign Het
Ttc21b A T 2: 66,235,571 probably null Het
Wdr89 A T 12: 75,633,051 L143* probably null Het
Other mutations in Armc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01453:Armc1 APN 3 19144430 missense probably benign 0.03
IGL02012:Armc1 APN 3 19157537 missense possibly damaging 0.57
IGL02586:Armc1 APN 3 19134028 utr 3 prime probably benign
R0512:Armc1 UTSW 3 19149495 missense possibly damaging 0.87
R1694:Armc1 UTSW 3 19134886 missense possibly damaging 0.81
R1878:Armc1 UTSW 3 19157544 missense probably damaging 1.00
R1881:Armc1 UTSW 3 19134896 missense possibly damaging 0.76
R2191:Armc1 UTSW 3 19134061 missense probably damaging 1.00
R2264:Armc1 UTSW 3 19134869 missense probably damaging 1.00
R2403:Armc1 UTSW 3 19157676 start gained probably benign
R2969:Armc1 UTSW 3 19134860 missense probably benign
R3861:Armc1 UTSW 3 19135032 missense probably damaging 1.00
R4296:Armc1 UTSW 3 19149516 missense probably damaging 0.99
R6753:Armc1 UTSW 3 19144398 missense possibly damaging 0.86
R6891:Armc1 UTSW 3 19135041 missense probably damaging 1.00
Z1088:Armc1 UTSW 3 19149507 missense probably damaging 1.00
Posted On2012-12-06