Incidental Mutation 'R3967:Armcx6'
ID 312422
Institutional Source Beutler Lab
Gene Symbol Armcx6
Ensembl Gene ENSMUSG00000050394
Gene Name armadillo repeat containing, X-linked 6
Synonyms
MMRRC Submission 040838-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R3967 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 133649210-133652166 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 133650505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 109 (H109N)
Ref Sequence ENSEMBL: ENSMUSP00000108819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052431] [ENSMUST00000113194]
AlphaFold Q8K3A6
Predicted Effect possibly damaging
Transcript: ENSMUST00000052431
AA Change: H109N

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000057277
Gene: ENSMUSG00000050394
AA Change: H109N

DomainStartEndE-ValueType
low complexity region 33 55 N/A INTRINSIC
Pfam:Arm_2 105 300 7.3e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113194
AA Change: H109N

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108819
Gene: ENSMUSG00000050394
AA Change: H109N

DomainStartEndE-ValueType
low complexity region 33 55 N/A INTRINSIC
Pfam:Arm_2 105 300 3.5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193498
Meta Mutation Damage Score 0.2656 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik G T 8: 122,266,719 (GRCm39) Q56K possibly damaging Het
Adam18 C A 8: 25,119,726 (GRCm39) V518L probably benign Het
Akap6 A T 12: 53,188,236 (GRCm39) K1883N probably damaging Het
Arhgef12 C A 9: 42,916,847 (GRCm39) R432L probably damaging Het
Ctnnd2 C A 15: 30,647,075 (GRCm39) A257E possibly damaging Het
Depdc5 T A 5: 33,101,459 (GRCm39) C322* probably null Het
Enpp7 T C 11: 118,881,827 (GRCm39) I324T probably damaging Het
Gm14401 T C 2: 176,778,789 (GRCm39) Y292H possibly damaging Het
Gm6871 A T 7: 41,196,148 (GRCm39) H196Q probably damaging Het
Gm9964 T C 11: 79,187,202 (GRCm39) T82A unknown Het
Gria2 T A 3: 80,618,084 (GRCm39) Q317L possibly damaging Het
Grtp1 G A 8: 13,239,705 (GRCm39) T134I probably benign Het
Itpkb A T 1: 180,155,363 (GRCm39) probably benign Het
Kbtbd12 A G 6: 88,595,488 (GRCm39) V114A probably benign Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Ly75 T C 2: 60,158,217 (GRCm39) I1023V possibly damaging Het
Myof C T 19: 37,889,711 (GRCm39) V1287M probably damaging Het
Myof T G 19: 38,011,058 (GRCm39) D60A possibly damaging Het
Narf A T 11: 121,129,247 (GRCm39) E10D possibly damaging Het
Nlrx1 A T 9: 44,166,722 (GRCm39) probably benign Het
Or10a3m A G 7: 108,313,060 (GRCm39) M155V probably benign Het
Or8b54 A G 9: 38,686,664 (GRCm39) T38A probably benign Het
Pabpc5 A G X: 118,838,321 (GRCm39) E212G probably benign Het
Pidd1 A G 7: 141,018,995 (GRCm39) F829L possibly damaging Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Pkn2 A G 3: 142,515,438 (GRCm39) C658R probably damaging Het
Psd C T 19: 46,312,845 (GRCm39) R175H probably benign Het
Rab39 G A 9: 53,597,932 (GRCm39) A111V possibly damaging Het
Rb1cc1 T A 1: 6,318,494 (GRCm39) probably benign Het
Rnf39 C A 17: 37,254,035 (GRCm39) T19K probably damaging Het
Slc16a3 C T 11: 120,846,251 (GRCm39) T60M possibly damaging Het
Slc26a4 G T 12: 31,578,686 (GRCm39) H656N probably damaging Het
Slc27a1 A G 8: 72,032,431 (GRCm39) E184G probably damaging Het
Smc6 T C 12: 11,348,327 (GRCm39) V742A probably benign Het
Thoc1 T A 18: 9,968,787 (GRCm39) V186D probably damaging Het
Uhrf2 T C 19: 30,057,315 (GRCm39) V491A probably damaging Het
Uri1 A G 7: 37,664,927 (GRCm39) V253A possibly damaging Het
Vmn2r83 T A 10: 79,327,154 (GRCm39) N587K probably benign Het
Vmn2r88 A T 14: 51,650,647 (GRCm39) Y120F probably benign Het
Wwox G A 8: 115,215,673 (GRCm39) A149T probably damaging Het
Zfp536 T C 7: 37,173,255 (GRCm39) *282W probably null Het
Other mutations in Armcx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2906:Armcx6 UTSW X 133,650,199 (GRCm39) missense probably damaging 1.00
R2907:Armcx6 UTSW X 133,650,199 (GRCm39) missense probably damaging 1.00
R2939:Armcx6 UTSW X 133,650,625 (GRCm39) missense probably damaging 1.00
R2940:Armcx6 UTSW X 133,650,625 (GRCm39) missense probably damaging 1.00
R3969:Armcx6 UTSW X 133,650,505 (GRCm39) missense possibly damaging 0.77
R3970:Armcx6 UTSW X 133,650,505 (GRCm39) missense possibly damaging 0.77
Z1177:Armcx6 UTSW X 133,650,741 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAACCACTGATAGGCTGG -3'
(R):5'- CATGTACAAACTGACCATGGGAAG -3'

Sequencing Primer
(F):5'- ACTGATAGGCTGGCCAGATGTTTAC -3'
(R):5'- TACAAACTGACCATGGGAAGAAGTG -3'
Posted On 2015-04-29