Incidental Mutation 'IGL02222:Armc12'
ID285179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Armc12
Ensembl Gene ENSMUSG00000024223
Gene Namearmadillo repeat containing 12
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #IGL02222
Quality Score
Status
Chromosome17
Chromosomal Location28530860-28538954 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 28538720 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 275 (N275K)
Ref Sequence ENSEMBL: ENSMUSP00000025060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025060]
Predicted Effect probably damaging
Transcript: ENSMUST00000025060
AA Change: N275K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025060
Gene: ENSMUSG00000024223
AA Change: N275K

DomainStartEndE-ValueType
low complexity region 20 34 N/A INTRINSIC
Pfam:Arm_2 64 310 5e-24 PFAM
low complexity region 324 335 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,282,886 R1682W probably benign Het
Angptl6 A T 9: 20,873,907 M450K probably damaging Het
Cd27 T C 6: 125,234,532 H144R probably damaging Het
Cenpf T C 1: 189,654,444 K1880E probably benign Het
Dchs1 A T 7: 105,764,887 I907N probably damaging Het
Dpy19l4 A C 4: 11,281,116 F443C possibly damaging Het
Eif3i C T 4: 129,592,088 D315N possibly damaging Het
Fam217a A G 13: 34,911,119 L128P probably damaging Het
Fam46b T C 4: 133,486,553 V245A probably damaging Het
Fetub C T 16: 22,932,328 L62F probably damaging Het
Fmn1 A T 2: 113,593,109 I1047F probably damaging Het
G2e3 A G 12: 51,363,233 H267R probably damaging Het
Gigyf2 A G 1: 87,410,863 probably null Het
Gm10650 T C 3: 128,040,140 noncoding transcript Het
Grip1 C T 10: 119,999,809 T470I probably damaging Het
Hmcn1 T G 1: 150,806,401 D466A probably benign Het
Lrrc63 T C 14: 75,086,140 Y548C probably damaging Het
Naaa T C 5: 92,259,550 probably benign Het
Parpbp T A 10: 88,140,085 E55D possibly damaging Het
Pnpt1 G A 11: 29,130,842 A29T probably benign Het
Pnpt1 A T 11: 29,159,327 D691V possibly damaging Het
Pramef6 A G 4: 143,895,846 M313T possibly damaging Het
Psg25 T C 7: 18,529,727 N57S probably damaging Het
Selenbp2 T A 3: 94,699,962 V168E probably damaging Het
Syne2 G A 12: 75,952,843 E2337K probably damaging Het
Synj2 A G 17: 6,037,480 T1269A probably benign Het
Tnfrsf13c C A 15: 82,223,163 V144L probably damaging Het
Uspl1 G T 5: 149,194,044 V132L probably benign Het
Vmn2r58 T A 7: 41,864,025 Y398F possibly damaging Het
Vps13a T A 19: 16,682,175 T1663S probably benign Het
Ythdc1 G A 5: 86,828,043 R503H possibly damaging Het
Other mutations in Armc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0242:Armc12 UTSW 17 28532392 missense possibly damaging 0.95
R0242:Armc12 UTSW 17 28532392 missense possibly damaging 0.95
R0787:Armc12 UTSW 17 28538766 missense probably damaging 1.00
R1428:Armc12 UTSW 17 28537936 missense probably damaging 1.00
R1800:Armc12 UTSW 17 28538895 missense possibly damaging 0.93
R4703:Armc12 UTSW 17 28532362 missense probably benign 0.41
R6583:Armc12 UTSW 17 28538614 missense probably null 0.89
R7677:Armc12 UTSW 17 28537891 missense probably benign 0.00
X0022:Armc12 UTSW 17 28532445 missense possibly damaging 0.48
Z1088:Armc12 UTSW 17 28532059 missense probably benign 0.27
Posted On2015-04-16