Incidental Mutation 'R3969:Armcx6'
ID 310902
Institutional Source Beutler Lab
Gene Symbol Armcx6
Ensembl Gene ENSMUSG00000050394
Gene Name armadillo repeat containing, X-linked 6
Synonyms
MMRRC Submission 040937-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R3969 (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: 97.0%
  • 20x: 94.1%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,835,846 (GRCm39) K60E probably damaging Het
Arhgef12 C A 9: 42,916,847 (GRCm39) R432L probably damaging Het
Camk2d G T 3: 126,590,608 (GRCm39) C273F possibly damaging Het
Camk4 T A 18: 33,312,634 (GRCm39) I258N possibly damaging Het
Chia1 T G 3: 106,028,951 (GRCm39) probably null Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cpeb4 T C 11: 31,822,811 (GRCm39) I175T possibly damaging Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Faap100 A T 11: 120,269,531 (GRCm39) M1K probably null Het
Flna A T X: 73,279,273 (GRCm39) V1253E probably damaging Het
Fryl A T 5: 73,269,766 (GRCm39) S396R probably damaging Het
Gm12185 A T 11: 48,798,172 (GRCm39) C774S probably benign Het
Habp2 A G 19: 56,300,133 (GRCm39) Y194C probably damaging Het
Insyn2b A T 11: 34,369,739 (GRCm39) Q481L probably damaging Het
Irf5 A T 6: 29,536,781 (GRCm39) Q497H probably benign Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Lins1 C T 7: 66,357,946 (GRCm39) T27I probably benign Het
Ncstn A C 1: 171,897,576 (GRCm39) V439G probably damaging Het
Nlrx1 A T 9: 44,166,722 (GRCm39) probably benign Het
Nol8 A T 13: 49,813,492 (GRCm39) K162* probably null Het
Or7g21 A G 9: 19,032,956 (GRCm39) E232G 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
Pecr G A 1: 72,315,468 (GRCm39) T94I probably damaging Het
Piezo2 A T 18: 63,144,767 (GRCm39) V2776E probably damaging Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Pole3 G T 4: 62,443,198 (GRCm39) N12K possibly damaging Het
Prl2a1 A G 13: 27,990,263 (GRCm39) S71G 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
Shroom3 T C 5: 93,088,738 (GRCm39) V496A probably benign Het
Slc26a1 A G 5: 108,821,818 (GRCm39) S24P probably benign Het
Tspoap1 A T 11: 87,653,272 (GRCm39) N113Y probably damaging Het
Usp17lc A T 7: 103,067,626 (GRCm39) H307L probably damaging Het
Vmn2r79 T C 7: 86,652,801 (GRCm39) W498R probably damaging Het
Vmn2r94 C A 17: 18,478,647 (GRCm39) Q33H possibly damaging Het
Wwc2 T C 8: 48,309,358 (GRCm39) D808G unknown Het
Ybx2 G A 11: 69,831,242 (GRCm39) R84Q probably damaging Het
Zfp462 C T 4: 55,012,402 (GRCm39) S308F probably damaging 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
R3967: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'- CTGCATGTACAAACTGACCATG -3'

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