Incidental Mutation 'IGL02382:Armcx5'
ID291422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Armcx5
Ensembl Gene ENSMUSG00000072969
Gene Namearmadillo repeat containing, X-linked 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL02382
Quality Score
Status
ChromosomeX
Chromosomal Location135742733-135747322 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 135746828 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 551 (F551S)
Ref Sequence ENSEMBL: ENSMUSP00000094045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096321] [ENSMUST00000113144] [ENSMUST00000113145] [ENSMUST00000113147]
Predicted Effect probably damaging
Transcript: ENSMUST00000096321
AA Change: F551S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094045
Gene: ENSMUSG00000072969
AA Change: F551S

DomainStartEndE-ValueType
low complexity region 71 84 N/A INTRINSIC
low complexity region 248 259 N/A INTRINSIC
Pfam:Arm_2 347 600 2e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113144
SMART Domains Protein: ENSMUSP00000108769
Gene: ENSMUSG00000043384

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 1.3e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113145
SMART Domains Protein: ENSMUSP00000108770
Gene: ENSMUSG00000043384

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 2.7e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113147
SMART Domains Protein: ENSMUSP00000108772
Gene: ENSMUSG00000043384

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 2.7e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196502
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A G 1: 173,459,749 probably null Het
Aoc2 T C 11: 101,326,672 L527P probably damaging Het
Arhgef15 C A 11: 68,954,030 R247L probably damaging Het
Armcx2 T C X: 134,805,667 T406A probably benign Het
Ccrl2 T C 9: 111,055,879 K184E probably benign Het
Cenpe A G 3: 135,247,386 I1534V probably benign Het
Cflar T A 1: 58,752,681 I381K probably benign Het
Crb1 T A 1: 139,237,614 N924I probably damaging Het
Crebbp A G 16: 4,108,070 V729A probably damaging Het
Dab2 T A 15: 6,436,987 V615D possibly damaging Het
Edrf1 T C 7: 133,650,615 probably benign Het
Ep400 G A 5: 110,701,728 T1409I unknown Het
Gm14406 C A 2: 177,569,195 probably benign Het
Kptn T A 7: 16,124,020 S258T probably benign Het
Mbnl1 G T 3: 60,625,142 E291* probably null Het
Mcm4 A T 16: 15,624,738 L843Q probably damaging Het
Mgrn1 A G 16: 4,922,618 N274D probably damaging Het
Olfr26 G A 9: 38,855,068 G2D probably benign Het
Olfr532 T A 7: 140,419,603 T57S possibly damaging Het
Phactr4 A T 4: 132,370,841 V335E probably damaging Het
Ptgr2 T C 12: 84,313,948 S331P probably damaging Het
Ranbp9 T C 13: 43,436,146 probably null Het
Setd5 A G 6: 113,143,640 T937A probably benign Het
Slc27a4 C T 2: 29,809,843 R265C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tenm3 A G 8: 48,235,476 Y2359H probably damaging Het
Tnip3 T C 6: 65,614,795 probably null Het
Zfc3h1 C T 10: 115,416,876 Q1365* probably null Het
Other mutations in Armcx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Armcx5 APN X 135746363 missense probably damaging 1.00
IGL02596:Armcx5 APN X 135746519 missense probably damaging 1.00
R0614:Armcx5 UTSW X 135746815 missense probably damaging 1.00
R4551:Armcx5 UTSW X 135746507 missense probably damaging 1.00
R4553:Armcx5 UTSW X 135746507 missense probably damaging 1.00
R7897:Armcx5 UTSW X 135745704 intron probably benign
R8182:Armcx5 UTSW X 135745704 intron probably benign
R8298:Armcx5 UTSW X 135745704 intron probably benign
Posted On2015-04-16