Incidental Mutation 'R1429:Armc8'
ID 161446
Institutional Source Beutler Lab
Gene Symbol Armc8
Ensembl Gene ENSMUSG00000032468
Gene Name armadillo repeat containing 8
Synonyms 1200015K23Rik, Gid5, HSPC056
MMRRC Submission 039485-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.683) question?
Stock # R1429 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 99360425-99450952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99418260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 56 (V56A)
Ref Sequence ENSEMBL: ENSMUSP00000140426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035043] [ENSMUST00000185524] [ENSMUST00000186049]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000035043
AA Change: V98A

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
AA Change: V98A

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
Predicted Effect probably benign
Transcript: ENSMUST00000185524
AA Change: V98A

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139973
Gene: ENSMUSG00000032468
AA Change: V98A

DomainStartEndE-ValueType
ARM 50 92 1.75e0 SMART
ARM 94 134 5.34e0 SMART
Blast:ARM 138 176 1e-5 BLAST
ARM 177 217 2.04e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000186049
AA Change: V56A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140426
Gene: ENSMUSG00000032468
AA Change: V56A

DomainStartEndE-ValueType
ARM 8 50 8.5e-3 SMART
ARM 52 92 2.6e-2 SMART
Blast:ARM 96 134 7e-6 BLAST
ARM 135 175 9.8e-2 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.4%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Alg8 C T 7: 97,039,499 (GRCm39) A410V probably benign Het
Arhgef4 A G 1: 34,849,420 (GRCm39) Y481C probably damaging Het
Cactin T C 10: 81,159,512 (GRCm39) I23T probably damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cfap54 T C 10: 92,656,900 (GRCm39) I3051V probably benign Het
Cpxm1 A T 2: 130,238,364 (GRCm39) I66N probably damaging Het
Ddx50 G A 10: 62,482,847 (GRCm39) T74I possibly damaging Het
Dnah7b G T 1: 46,328,816 (GRCm39) D3183Y possibly damaging Het
Dsg1b A G 18: 20,523,252 (GRCm39) D93G probably damaging Het
Ess2 G A 16: 17,720,069 (GRCm39) R427* probably null Het
Fam135a T G 1: 24,083,348 (GRCm39) K292N probably damaging Het
Fam83b G T 9: 76,399,859 (GRCm39) R415S probably benign Het
Fxyd3 T A 7: 30,773,046 (GRCm39) M1L probably benign Het
Gm5134 T A 10: 75,814,215 (GRCm39) M193K probably damaging Het
Golgb1 A G 16: 36,720,925 (GRCm39) E427G possibly damaging Het
Gpat3 G A 5: 101,040,953 (GRCm39) G338S probably damaging Het
Hmgxb3 C T 18: 61,283,505 (GRCm39) R606Q probably damaging Het
Itgb1 T C 8: 129,444,157 (GRCm39) probably null Het
Myh1 C A 11: 67,108,736 (GRCm39) T1384K possibly damaging Het
Myo3b A C 2: 70,083,351 (GRCm39) Q640P probably damaging Het
Naa16 A G 14: 79,596,967 (GRCm39) V305A probably benign Het
Or5h17 G A 16: 58,820,501 (GRCm39) G151D possibly damaging Het
Pgap1 T C 1: 54,534,020 (GRCm39) D631G probably benign Het
Phc2 C A 4: 128,637,348 (GRCm39) P51Q probably damaging Het
Pmel G A 10: 128,554,861 (GRCm39) probably null Het
Rassf8 G T 6: 145,760,916 (GRCm39) G81W probably damaging Het
Rfx2 G T 17: 57,111,369 (GRCm39) Q68K probably damaging Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Rsbn1l A G 5: 21,125,016 (GRCm39) L262S probably damaging Het
S100a16 A C 3: 90,449,391 (GRCm39) Y22S probably damaging Het
Stx19 G A 16: 62,642,960 (GRCm39) V259I possibly damaging Het
Tas2r105 T C 6: 131,663,904 (GRCm39) I175V probably benign Het
Vmn2r67 T A 7: 84,802,031 (GRCm39) H90L possibly damaging Het
Wscd1 T A 11: 71,651,000 (GRCm39) L109Q probably damaging Het
Zfp423 T A 8: 88,413,070 (GRCm39) Q1154L probably damaging Het
Zmym6 T C 4: 127,017,672 (GRCm39) L1059P probably damaging Het
Other mutations in Armc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Armc8 APN 9 99,387,787 (GRCm39) critical splice acceptor site probably null
IGL00951:Armc8 APN 9 99,387,757 (GRCm39) missense probably benign 0.00
IGL01776:Armc8 APN 9 99,408,936 (GRCm39) splice site probably benign
IGL02215:Armc8 APN 9 99,366,031 (GRCm39) missense possibly damaging 0.92
IGL02244:Armc8 APN 9 99,365,227 (GRCm39) missense probably benign 0.10
IGL02610:Armc8 APN 9 99,409,122 (GRCm39) splice site probably benign
IGL02612:Armc8 APN 9 99,409,122 (GRCm39) splice site probably benign
IGL02615:Armc8 APN 9 99,409,122 (GRCm39) splice site probably benign
IGL02619:Armc8 APN 9 99,409,122 (GRCm39) splice site probably benign
IGL02621:Armc8 APN 9 99,409,122 (GRCm39) splice site probably benign
IGL02622:Armc8 APN 9 99,409,122 (GRCm39) splice site probably benign
IGL02623:Armc8 APN 9 99,409,122 (GRCm39) splice site probably benign
IGL02624:Armc8 APN 9 99,409,122 (GRCm39) splice site probably benign
Scrambler UTSW 9 99,378,202 (GRCm39) critical splice donor site probably null
warthog UTSW 9 99,402,538 (GRCm39) missense probably benign 0.02
D4043:Armc8 UTSW 9 99,366,029 (GRCm39) missense probably benign 0.13
R0321:Armc8 UTSW 9 99,415,230 (GRCm39) missense probably damaging 0.99
R0498:Armc8 UTSW 9 99,379,345 (GRCm39) missense probably damaging 1.00
R0646:Armc8 UTSW 9 99,387,741 (GRCm39) missense probably damaging 1.00
R0658:Armc8 UTSW 9 99,418,211 (GRCm39) splice site probably benign
R1061:Armc8 UTSW 9 99,419,784 (GRCm39) missense probably damaging 1.00
R1406:Armc8 UTSW 9 99,405,301 (GRCm39) missense probably benign 0.37
R1406:Armc8 UTSW 9 99,405,301 (GRCm39) missense probably benign 0.37
R1432:Armc8 UTSW 9 99,405,185 (GRCm39) splice site probably benign
R1538:Armc8 UTSW 9 99,387,343 (GRCm39) missense probably damaging 0.96
R1606:Armc8 UTSW 9 99,419,782 (GRCm39) missense probably damaging 0.98
R1817:Armc8 UTSW 9 99,418,312 (GRCm39) missense possibly damaging 0.67
R1866:Armc8 UTSW 9 99,418,333 (GRCm39) missense probably benign
R2015:Armc8 UTSW 9 99,365,158 (GRCm39) nonsense probably null
R2143:Armc8 UTSW 9 99,387,361 (GRCm39) missense probably damaging 0.99
R2251:Armc8 UTSW 9 99,384,653 (GRCm39) critical splice acceptor site probably null
R2842:Armc8 UTSW 9 99,387,734 (GRCm39) missense probably benign
R3010:Armc8 UTSW 9 99,369,966 (GRCm39) missense probably benign 0.06
R3709:Armc8 UTSW 9 99,402,550 (GRCm39) missense probably damaging 1.00
R4440:Armc8 UTSW 9 99,366,087 (GRCm39) missense probably benign 0.37
R4865:Armc8 UTSW 9 99,408,942 (GRCm39) critical splice donor site probably null
R5492:Armc8 UTSW 9 99,409,184 (GRCm39) nonsense probably null
R5606:Armc8 UTSW 9 99,418,315 (GRCm39) missense probably benign 0.23
R5639:Armc8 UTSW 9 99,378,202 (GRCm39) critical splice donor site probably null
R5693:Armc8 UTSW 9 99,378,202 (GRCm39) critical splice donor site probably null
R5694:Armc8 UTSW 9 99,378,202 (GRCm39) critical splice donor site probably null
R5698:Armc8 UTSW 9 99,417,873 (GRCm39) missense probably benign 0.12
R5700:Armc8 UTSW 9 99,378,202 (GRCm39) critical splice donor site probably null
R5701:Armc8 UTSW 9 99,378,202 (GRCm39) critical splice donor site probably null
R5735:Armc8 UTSW 9 99,379,447 (GRCm39) critical splice acceptor site probably null
R6314:Armc8 UTSW 9 99,417,937 (GRCm39) missense probably benign 0.28
R7034:Armc8 UTSW 9 99,366,018 (GRCm39) critical splice donor site probably null
R7036:Armc8 UTSW 9 99,366,018 (GRCm39) critical splice donor site probably null
R7393:Armc8 UTSW 9 99,366,052 (GRCm39) missense possibly damaging 0.47
R7395:Armc8 UTSW 9 99,415,185 (GRCm39) missense probably damaging 0.99
R7937:Armc8 UTSW 9 99,418,272 (GRCm39) missense probably damaging 0.98
R8130:Armc8 UTSW 9 99,433,600 (GRCm39) missense probably benign 0.02
R8373:Armc8 UTSW 9 99,409,152 (GRCm39) missense probably benign 0.02
R8734:Armc8 UTSW 9 99,402,538 (GRCm39) missense probably benign 0.02
R9098:Armc8 UTSW 9 99,387,362 (GRCm39) nonsense probably null
R9255:Armc8 UTSW 9 99,379,441 (GRCm39) missense possibly damaging 0.95
R9358:Armc8 UTSW 9 99,450,653 (GRCm39) critical splice donor site probably null
R9463:Armc8 UTSW 9 99,378,203 (GRCm39) critical splice donor site probably null
Z1177:Armc8 UTSW 9 99,379,439 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTTATGGTGAACCAGGAGACACTAAGC -3'
(R):5'- TGGGCTGTATTTCCCACACTGC -3'

Sequencing Primer
(F):5'- gagactgtttttctgtgtagcc -3'
(R):5'- CAGAGCTGAAAACTGAATGTGC -3'
Posted On 2014-03-14