Incidental Mutation 'IGL02111:Armc5'
ID280126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Armc5
Ensembl Gene ENSMUSG00000042178
Gene Namearmadillo repeat containing 5
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.851) question?
Stock #IGL02111
Quality Score
Status
Chromosome7
Chromosomal Location128237342-128245100 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 128244083 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 683 (T683A)
Ref Sequence ENSEMBL: ENSMUSP00000040568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044660] [ENSMUST00000070656] [ENSMUST00000163609] [ENSMUST00000164710] [ENSMUST00000165667] [ENSMUST00000167965] [ENSMUST00000169919] [ENSMUST00000170115]
Predicted Effect probably benign
Transcript: ENSMUST00000044660
AA Change: T683A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040568
Gene: ENSMUSG00000042178
AA Change: T683A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 62 104 N/A INTRINSIC
ARM 137 179 2.89e-1 SMART
ARM 180 221 3.32e-1 SMART
ARM 222 263 2.93e-2 SMART
Blast:ARM 265 306 1e-8 BLAST
low complexity region 313 338 N/A INTRINSIC
ARM 353 399 4.88e0 SMART
low complexity region 418 431 N/A INTRINSIC
low complexity region 670 690 N/A INTRINSIC
Pfam:BTB 742 854 9.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070656
SMART Domains Protein: ENSMUSP00000068529
Gene: ENSMUSG00000030782

DomainStartEndE-ValueType
Pfam:Paxillin 19 183 1.7e-7 PFAM
LIM 210 261 5.18e-22 SMART
LIM 269 320 4.37e-20 SMART
LIM 328 379 3.69e-18 SMART
LIM 387 438 6.89e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163553
Predicted Effect probably benign
Transcript: ENSMUST00000163609
SMART Domains Protein: ENSMUSP00000133134
Gene: ENSMUSG00000030782

DomainStartEndE-ValueType
low complexity region 11 44 N/A INTRINSIC
low complexity region 64 76 N/A INTRINSIC
LIM 116 167 5.18e-22 SMART
LIM 175 226 4.37e-20 SMART
LIM 234 285 3.69e-18 SMART
LIM 293 344 6.89e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164710
SMART Domains Protein: ENSMUSP00000130964
Gene: ENSMUSG00000030782

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
low complexity region 28 48 N/A INTRINSIC
Pfam:Paxillin 49 178 1.4e-10 PFAM
low complexity region 197 209 N/A INTRINSIC
LIM 249 300 5.18e-22 SMART
LIM 308 359 4.37e-20 SMART
LIM 367 418 3.69e-18 SMART
LIM 426 477 6.89e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165667
SMART Domains Protein: ENSMUSP00000127695
Gene: ENSMUSG00000030782

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
low complexity region 27 37 N/A INTRINSIC
low complexity region 83 116 N/A INTRINSIC
low complexity region 136 148 N/A INTRINSIC
LIM 188 239 5.18e-22 SMART
LIM 247 298 4.37e-20 SMART
LIM 306 357 3.69e-18 SMART
LIM 365 416 6.89e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166755
Predicted Effect probably benign
Transcript: ENSMUST00000167965
SMART Domains Protein: ENSMUSP00000132100
Gene: ENSMUSG00000030782

DomainStartEndE-ValueType
Pfam:Paxillin 34 200 7.3e-8 PFAM
LIM 227 278 5.18e-22 SMART
LIM 286 337 4.37e-20 SMART
LIM 345 396 3.69e-18 SMART
LIM 404 455 6.89e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168825
SMART Domains Protein: ENSMUSP00000132685
Gene: ENSMUSG00000030782

DomainStartEndE-ValueType
low complexity region 76 92 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
LIM 165 216 5.18e-22 SMART
LIM 224 275 4.37e-20 SMART
LIM 283 334 3.69e-18 SMART
LIM 342 393 6.89e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169919
SMART Domains Protein: ENSMUSP00000131705
Gene: ENSMUSG00000030782

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
low complexity region 44 54 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170115
SMART Domains Protein: ENSMUSP00000129958
Gene: ENSMUSG00000030782

DomainStartEndE-ValueType
Pfam:Paxillin 17 112 1.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206691
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 member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality with defects in mesoderm formation and gastrulation. The few survbiving mice are smaller than normal. Mice heterozygous for the same allele exhibit abnormal adrenocortical morphology and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik T C 9: 22,424,179 I31T probably benign Het
Adgrg3 G A 8: 95,034,999 R130Q probably damaging Het
Adipor2 A T 6: 119,370,196 L42* probably null Het
Ankrd45 A G 1: 161,163,351 K259E probably damaging Het
Apoc3 T C 9: 46,234,474 K79R possibly damaging Het
Arhgap40 T C 2: 158,539,844 Y416H probably damaging Het
Bora T C 14: 99,047,377 V21A probably damaging Het
Cacna1b C T 2: 24,606,991 S2189N probably damaging Het
Cct2 G A 10: 117,053,112 T57I probably damaging Het
Cd200r1 A T 16: 44,788,781 N34Y probably damaging Het
Cd300ld2 T A 11: 115,012,393 probably benign Het
Cntnap5a G A 1: 116,089,352 R225H probably benign Het
Cntnap5c A T 17: 58,102,108 D447V probably damaging Het
Cpne7 T C 8: 123,125,653 probably benign Het
Dap3 G A 3: 88,929,418 T92I probably benign Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Egfem1 G A 3: 29,650,896 probably null Het
Fam120b T C 17: 15,402,585 L275P possibly damaging Het
Fam161a A T 11: 23,020,026 H68L probably benign Het
Fam193a A G 5: 34,410,657 E100G possibly damaging Het
Ftmt A T 18: 52,332,053 D147V possibly damaging Het
Gm10136 T C 19: 29,003,722 K41E probably benign Het
Gm10797 C T 10: 67,572,567 noncoding transcript Het
Hsf1 A G 15: 76,496,081 probably benign Het
Ipo8 A G 6: 148,799,780 V514A probably damaging Het
Itfg2 T C 6: 128,410,381 H422R probably benign Het
Lrp4 G T 2: 91,506,059 L1738F probably damaging Het
Mettl17 A G 14: 51,891,386 E371G probably damaging Het
Mfsd6 A T 1: 52,708,344 L454Q probably damaging Het
Myh10 A T 11: 68,790,112 E956V probably damaging Het
Ncoa1 A T 12: 4,274,944 M1K probably null Het
Olfr1163 T A 2: 88,071,227 N52Y probably benign Het
Olfr677 A G 7: 105,056,945 D233G probably benign Het
Olfr709-ps1 A C 7: 106,926,616 V281G probably damaging Het
Otop1 T A 5: 38,277,701 C89S probably benign Het
Pitrm1 G T 13: 6,573,145 R775L probably benign Het
Prpf19 A G 19: 10,905,094 T512A probably benign Het
Prpf4b T A 13: 34,883,961 S258T probably benign Het
Rhbdl2 T C 4: 123,822,837 Y196H probably damaging Het
Rnf187 T C 11: 58,937,180 D148G probably damaging Het
Sbds A G 5: 130,250,941 I74T probably damaging Het
Sec63 T C 10: 42,810,888 V468A probably damaging Het
Slc35b3 A T 13: 38,955,782 M23K probably damaging Het
Slc6a9 A T 4: 117,864,013 Y208F probably benign Het
Slfn8 A T 11: 83,004,498 L494Q probably damaging Het
Sorcs1 T G 19: 50,230,245 M600L probably benign Het
Supt7l T C 5: 31,515,678 probably null Het
Tecrl T A 5: 83,354,792 Q70L probably damaging Het
Tedc2 A T 17: 24,218,166 probably benign Het
Tespa1 A G 10: 130,355,484 D99G probably damaging Het
Tmem126b G T 7: 90,469,061 Q204K probably damaging Het
Tmem181c-ps A T 17: 6,620,367 noncoding transcript Het
Tmem184a G T 5: 139,813,101 T31K possibly damaging Het
Tmprss11e T A 5: 86,719,801 I137F possibly damaging Het
Tmprss13 C T 9: 45,336,105 T255I probably damaging Het
Top1mt G A 15: 75,665,706 probably benign Het
Treh C T 9: 44,682,961 T168I probably benign Het
Ttn A T 2: 76,767,328 I11420N probably benign Het
Zp2 T C 7: 120,132,418 K705E possibly damaging Het
Zw10 T C 9: 49,068,754 I395T probably damaging Het
Other mutations in Armc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0538:Armc5 UTSW 7 128244291 missense probably damaging 1.00
R0718:Armc5 UTSW 7 128240070 unclassified probably benign
R0920:Armc5 UTSW 7 128240319 missense probably damaging 1.00
R1922:Armc5 UTSW 7 128240505 missense probably benign
R2943:Armc5 UTSW 7 128240580 missense probably damaging 1.00
R4663:Armc5 UTSW 7 128238545 missense probably benign 0.14
R4679:Armc5 UTSW 7 128240104 missense possibly damaging 0.95
R4910:Armc5 UTSW 7 128240728 missense possibly damaging 0.67
R5466:Armc5 UTSW 7 128240164 missense probably damaging 0.99
R5954:Armc5 UTSW 7 128242272 missense probably benign 0.18
R6912:Armc5 UTSW 7 128240425 missense probably damaging 1.00
R6940:Armc5 UTSW 7 128240298 nonsense probably null
Z1177:Armc5 UTSW 7 128240625 missense probably damaging 1.00
Z1177:Armc5 UTSW 7 128240830 missense probably damaging 0.98
Z1177:Armc5 UTSW 7 128244663 missense probably damaging 1.00
Posted On2015-04-16