Incidental Mutation 'IGL02382:Armcx2'
ID291419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Armcx2
Ensembl Gene ENSMUSG00000033436
Gene Namearmadillo repeat containing, X-linked 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL02382
Quality Score
Status
ChromosomeX
Chromosomal Location134804145-134809221 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 134805667 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 406 (T406A)
Ref Sequence ENSEMBL: ENSMUSP00000127305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035559] [ENSMUST00000113193] [ENSMUST00000119010] [ENSMUST00000168264]
Predicted Effect probably benign
Transcript: ENSMUST00000035559
AA Change: T406A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000049147
Gene: ENSMUSG00000033436
AA Change: T406A

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
low complexity region 91 103 N/A INTRINSIC
internal_repeat_2 143 179 7.15e-5 PROSPERO
internal_repeat_1 176 196 1.38e-5 PROSPERO
low complexity region 234 249 N/A INTRINSIC
low complexity region 254 263 N/A INTRINSIC
low complexity region 275 294 N/A INTRINSIC
internal_repeat_1 296 316 1.38e-5 PROSPERO
low complexity region 324 354 N/A INTRINSIC
internal_repeat_2 360 395 7.15e-5 PROSPERO
low complexity region 396 418 N/A INTRINSIC
low complexity region 431 453 N/A INTRINSIC
low complexity region 466 485 N/A INTRINSIC
low complexity region 498 507 N/A INTRINSIC
Pfam:Arm_2 527 778 4.8e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113193
AA Change: T406A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000108818
Gene: ENSMUSG00000033436
AA Change: T406A

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
low complexity region 91 103 N/A INTRINSIC
internal_repeat_2 143 179 7.15e-5 PROSPERO
internal_repeat_1 176 196 1.38e-5 PROSPERO
low complexity region 234 249 N/A INTRINSIC
low complexity region 254 263 N/A INTRINSIC
low complexity region 275 294 N/A INTRINSIC
internal_repeat_1 296 316 1.38e-5 PROSPERO
low complexity region 324 354 N/A INTRINSIC
internal_repeat_2 360 395 7.15e-5 PROSPERO
low complexity region 396 418 N/A INTRINSIC
low complexity region 431 453 N/A INTRINSIC
low complexity region 466 485 N/A INTRINSIC
low complexity region 498 507 N/A INTRINSIC
Pfam:Arm_2 527 778 4.8e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119010
AA Change: T406A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112507
Gene: ENSMUSG00000033436
AA Change: T406A

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
low complexity region 91 103 N/A INTRINSIC
internal_repeat_2 143 179 7.15e-5 PROSPERO
internal_repeat_1 176 196 1.38e-5 PROSPERO
low complexity region 234 249 N/A INTRINSIC
low complexity region 254 263 N/A INTRINSIC
low complexity region 275 294 N/A INTRINSIC
internal_repeat_1 296 316 1.38e-5 PROSPERO
low complexity region 324 354 N/A INTRINSIC
internal_repeat_2 360 395 7.15e-5 PROSPERO
low complexity region 396 418 N/A INTRINSIC
low complexity region 431 453 N/A INTRINSIC
low complexity region 466 485 N/A INTRINSIC
low complexity region 498 507 N/A INTRINSIC
Pfam:Arm_2 527 778 7.9e-109 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150814
Predicted Effect probably benign
Transcript: ENSMUST00000168264
AA Change: T406A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000127305
Gene: ENSMUSG00000033436
AA Change: T406A

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
low complexity region 91 103 N/A INTRINSIC
internal_repeat_2 143 179 7.15e-5 PROSPERO
internal_repeat_1 176 196 1.38e-5 PROSPERO
low complexity region 234 249 N/A INTRINSIC
low complexity region 254 263 N/A INTRINSIC
low complexity region 275 294 N/A INTRINSIC
internal_repeat_1 296 316 1.38e-5 PROSPERO
low complexity region 324 354 N/A INTRINSIC
internal_repeat_2 360 395 7.15e-5 PROSPERO
low complexity region 396 418 N/A INTRINSIC
low complexity region 431 453 N/A INTRINSIC
low complexity region 466 485 N/A INTRINSIC
low complexity region 498 507 N/A INTRINSIC
Pfam:Arm_2 527 778 4.8e-108 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]
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
Armcx5 T C X: 135,746,828 F551S probably damaging 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 Armcx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0660:Armcx2 UTSW X 134805636 missense possibly damaging 0.95
R0662:Armcx2 UTSW X 134805636 missense possibly damaging 0.95
R3870:Armcx2 UTSW X 134806299 missense probably benign
Posted On2015-04-16