Incidental Mutation 'R2906:Armcx6'
ID 261678
Institutional Source Beutler Lab
Gene Symbol Armcx6
Ensembl Gene ENSMUSG00000050394
Gene Name armadillo repeat containing, X-linked 6
Synonyms
MMRRC Submission 040493-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R2906 (G1)
Quality Score 119
Status Not validated
Chromosome X
Chromosomal Location 133649210-133652166 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133650199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 211 (C211S)
Ref Sequence ENSEMBL: ENSMUSP00000108819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052431] [ENSMUST00000113194]
AlphaFold Q8K3A6
Predicted Effect probably damaging
Transcript: ENSMUST00000052431
AA Change: C211S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057277
Gene: ENSMUSG00000050394
AA Change: C211S

DomainStartEndE-ValueType
low complexity region 33 55 N/A INTRINSIC
Pfam:Arm_2 105 300 7.3e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113194
AA Change: C211S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108819
Gene: ENSMUSG00000050394
AA Change: C211S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Adgrg6 A G 10: 14,308,694 (GRCm39) I800T probably benign Het
Afg3l2 G A 18: 67,573,292 (GRCm39) T170M probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Cd96 T C 16: 45,871,850 (GRCm39) T432A possibly damaging Het
Col13a1 T C 10: 61,696,267 (GRCm39) probably benign Het
Ddx4 G T 13: 112,757,311 (GRCm39) probably benign Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Duoxa1 C T 2: 122,135,155 (GRCm39) V197M probably benign Het
Gm6430 A T 1: 96,952,554 (GRCm39) noncoding transcript Het
Gtf2a1l G A 17: 89,002,083 (GRCm39) R313H possibly damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Lax1 A T 1: 133,616,643 (GRCm39) M1K probably null Het
Lce1k T C 3: 92,713,882 (GRCm39) S101G unknown Het
Med12l T C 3: 59,164,503 (GRCm39) L1365P probably damaging Het
Mtx2 T C 2: 74,697,253 (GRCm39) S83P probably damaging Het
Naip2 A C 13: 100,298,504 (GRCm39) C511G probably damaging Het
Nefh A G 11: 4,890,216 (GRCm39) I801T probably benign Het
Or8g24 A G 9: 38,989,669 (GRCm39) V124A probably benign Het
Oxct2b A G 4: 123,010,823 (GRCm39) I248V probably benign Het
Pcdhgb2 A T 18: 37,823,908 (GRCm39) I300F probably damaging Het
Ptprc G A 1: 137,992,272 (GRCm39) A1285V possibly damaging Het
Rassf3 A G 10: 121,250,297 (GRCm39) L172P probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Rpusd1 T C 17: 25,949,705 (GRCm39) S292P probably benign Het
Scamp5 A G 9: 57,351,146 (GRCm39) V172A probably damaging Het
Snx25 T C 8: 46,502,560 (GRCm39) probably null Het
Tmprss11g A G 5: 86,640,661 (GRCm39) probably benign Het
Ttll3 G C 6: 113,369,471 (GRCm39) probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Usp45 T A 4: 21,834,338 (GRCm39) Y805* probably null Het
Zfp639 T C 3: 32,573,900 (GRCm39) L175P probably damaging Het
Zfp995 T C 17: 22,099,247 (GRCm39) D329G probably benign Het
Other mutations in Armcx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3967:Armcx6 UTSW X 133,650,505 (GRCm39) missense possibly damaging 0.77
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'- CCACTTCTGGTAAAGAGGCAC -3'
(R):5'- AAACATCTGGCCAGCCTATCAG -3'

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