Incidental Mutation 'IGL02244:Armc8'
ID286091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Armc8
Ensembl Gene ENSMUSG00000032468
Gene Namearmadillo repeat containing 8
Synonyms1200015K23Rik, HSPC056, Gid5
Accession Numbers

Genbank: NM_028768; MGI: 1921375

Is this an essential gene? Possibly essential (E-score: 0.718) question?
Stock #IGL02244
Quality Score
Status
Chromosome9
Chromosomal Location99478372-99568899 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 99483174 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 638 (D638E)
Ref Sequence ENSEMBL: ENSMUSP00000035043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035043]
Predicted Effect probably benign
Transcript: ENSMUST00000035043
AA Change: D638E

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
AA Change: D638E

DomainStartEndE-ValueType
ARM 50 92 1.75e0 SMART
ARM 94 134 5.34e0 SMART
ARM 177 217 2.04e1 SMART
ARM 372 413 3.58e1 SMART
Blast:ARM 414 455 7e-17 BLAST
ARM 457 497 3.81e-1 SMART
ARM 500 540 5.43e1 SMART
Blast:ARM 542 585 1e-20 BLAST
Blast:ARM 633 673 1e-16 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(6) : Targeted, other(2) Gene trapped(4)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 91,056,197 T17K probably benign Het
Agbl1 T C 7: 76,766,372 S714P probably damaging Het
Araf A G X: 20,853,596 probably benign Het
Armc3 G A 2: 19,286,137 probably null Het
Bpifb5 C T 2: 154,225,148 T107I possibly damaging Het
Ces1e A C 8: 93,212,349 probably null Het
Col4a3 C A 1: 82,669,771 probably benign Het
Col4a5 A G X: 141,599,673 probably benign Het
Crocc T C 4: 141,037,920 H477R probably benign Het
Dgkd C A 1: 87,915,141 N130K probably benign Het
Dock1 C T 7: 134,777,445 Q634* probably null Het
Dzip3 C T 16: 48,980,988 V58I probably benign Het
Fndc3a A G 14: 72,556,367 probably benign Het
Glp2r C T 11: 67,721,991 R379H probably damaging Het
Kctd12b T A X: 153,689,334 M120L probably benign Het
Krt33b A G 11: 100,025,363 V258A probably benign Het
Lpin1 T A 12: 16,541,769 N819I probably damaging Het
Lurap1l T C 4: 80,953,629 S120P probably damaging Het
Lysmd4 T C 7: 67,225,924 S112P probably damaging Het
Myo1e A G 9: 70,367,689 K708R probably benign Het
Nr3c1 T A 18: 39,421,557 probably benign Het
Nup62cl G T X: 140,022,031 N239K probably benign Het
Nwd1 A T 8: 72,707,582 E1269V probably damaging Het
Olfr676 C T 7: 105,035,945 T249M probably damaging Het
Pcdh9 A C 14: 93,326,768 L1084R probably damaging Het
Plxnd1 A G 6: 115,978,257 M543T probably benign Het
Prss53 T A 7: 127,888,792 T173S possibly damaging Het
Reep2 C A 18: 34,840,754 probably benign Het
Rp1 T C 1: 4,348,780 D703G probably benign Het
Sbf2 T G 7: 110,560,295 D36A probably damaging Het
Sh3kbp1 C T X: 159,803,728 R99W probably damaging Het
Sis T A 3: 72,956,190 R238S probably benign Het
Slc35e2 T A 4: 155,618,562 V344D probably damaging Het
Specc1 G A 11: 62,128,368 V678I probably benign Het
Supt6 T C 11: 78,232,797 D49G possibly damaging Het
Tecpr1 G A 5: 144,210,003 A515V probably benign Het
Tlr4 G A 4: 66,834,061 probably null Het
Tmco5b A G 2: 113,288,274 E114G probably damaging Het
Tspear A T 10: 77,852,856 probably benign Het
Txlnb T A 10: 17,843,368 V649E probably benign Het
Utp20 A G 10: 88,815,956 probably benign Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Vmn2r70 T A 7: 85,565,003 T314S probably benign Het
Zfp938 G T 10: 82,226,072 T238K possibly damaging Het
Other mutations in Armc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Armc8 APN 9 99505734 critical splice acceptor site probably null
IGL00951:Armc8 APN 9 99505704 missense probably benign 0.00
IGL01776:Armc8 APN 9 99526883 splice site probably benign
IGL02215:Armc8 APN 9 99483978 missense possibly damaging 0.92
IGL02610:Armc8 APN 9 99527069 splice site probably benign
IGL02612:Armc8 APN 9 99527069 splice site probably benign
IGL02615:Armc8 APN 9 99527069 splice site probably benign
IGL02619:Armc8 APN 9 99527069 splice site probably benign
IGL02621:Armc8 APN 9 99527069 splice site probably benign
IGL02622:Armc8 APN 9 99527069 splice site probably benign
IGL02623:Armc8 APN 9 99527069 splice site probably benign
IGL02624:Armc8 APN 9 99527069 splice site probably benign
D4043:Armc8 UTSW 9 99483976 missense probably benign 0.13
R0321:Armc8 UTSW 9 99533177 missense probably damaging 0.99
R0498:Armc8 UTSW 9 99497292 missense probably damaging 1.00
R0646:Armc8 UTSW 9 99505688 missense probably damaging 1.00
R0658:Armc8 UTSW 9 99536158 splice site probably benign
R1061:Armc8 UTSW 9 99537731 missense probably damaging 1.00
R1406:Armc8 UTSW 9 99523248 missense probably benign 0.37
R1406:Armc8 UTSW 9 99523248 missense probably benign 0.37
R1429:Armc8 UTSW 9 99536207 missense possibly damaging 0.67
R1432:Armc8 UTSW 9 99523132 splice site probably benign
R1538:Armc8 UTSW 9 99505290 missense probably damaging 0.96
R1606:Armc8 UTSW 9 99537729 missense probably damaging 0.98
R1817:Armc8 UTSW 9 99536259 missense possibly damaging 0.67
R1866:Armc8 UTSW 9 99536280 missense probably benign
R2015:Armc8 UTSW 9 99483105 nonsense probably null
R2143:Armc8 UTSW 9 99505308 missense probably damaging 0.99
R2251:Armc8 UTSW 9 99502600 critical splice acceptor site probably null
R2842:Armc8 UTSW 9 99505681 missense probably benign
R3010:Armc8 UTSW 9 99487913 missense probably benign 0.06
R3709:Armc8 UTSW 9 99520497 missense probably damaging 1.00
R4440:Armc8 UTSW 9 99484034 missense probably benign 0.37
R4865:Armc8 UTSW 9 99526889 critical splice donor site probably null
R5492:Armc8 UTSW 9 99527131 nonsense probably null
R5606:Armc8 UTSW 9 99536262 missense probably benign 0.23
R5639:Armc8 UTSW 9 99496149 critical splice donor site probably null
R5693:Armc8 UTSW 9 99496149 critical splice donor site probably null
R5694:Armc8 UTSW 9 99496149 critical splice donor site probably null
R5698:Armc8 UTSW 9 99535820 missense probably benign 0.12
R5700:Armc8 UTSW 9 99496149 critical splice donor site probably null
R5701:Armc8 UTSW 9 99496149 critical splice donor site probably null
R5735:Armc8 UTSW 9 99497394 critical splice acceptor site probably null
R6314:Armc8 UTSW 9 99535884 missense probably benign 0.28
R7034:Armc8 UTSW 9 99483965 critical splice donor site probably null
R7036:Armc8 UTSW 9 99483965 critical splice donor site probably null
R7393:Armc8 UTSW 9 99483999 missense possibly damaging 0.47
R7395:Armc8 UTSW 9 99533132 missense probably damaging 0.99
R7937:Armc8 UTSW 9 99536219 missense probably damaging 0.98
R8130:Armc8 UTSW 9 99551547 missense probably benign 0.02
R8373:Armc8 UTSW 9 99527099 missense probably benign 0.02
Z1177:Armc8 UTSW 9 99497386 missense probably damaging 0.99
Posted On2015-04-16