Incidental Mutation 'IGL01591:Commd10'
ID 91588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Commd10
Ensembl Gene ENSMUSG00000042705
Gene Name COMM domain containing 10
Synonyms 2310003A05Rik, DRWMS2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01591
Quality Score
Status
Chromosome 18
Chromosomal Location 47091917-47242435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 47096735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 47 (S47R)
Ref Sequence ENSEMBL: ENSMUSP00000041650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049388]
AlphaFold Q8JZY2
Predicted Effect probably benign
Transcript: ENSMUST00000049388
AA Change: S47R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041650
Gene: ENSMUSG00000042705
AA Change: S47R

DomainStartEndE-ValueType
Pfam:HCaRG 21 200 6.8e-39 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca G T 11: 84,134,146 (GRCm39) G420W probably damaging Het
Adamts17 G A 7: 66,654,144 (GRCm39) R458H probably damaging Het
Adprs T C 4: 126,212,274 (GRCm39) T82A probably damaging Het
Ccdc158 T A 5: 92,809,900 (GRCm39) I203L probably benign Het
Crb1 T C 1: 139,165,077 (GRCm39) T1016A probably damaging Het
Crhbp T A 13: 95,580,295 (GRCm39) I95F probably damaging Het
Cyp3a11 A T 5: 145,812,291 (GRCm39) probably benign Het
Dsel A G 1: 111,787,425 (GRCm39) Y1037H probably benign Het
Epha1 T C 6: 42,337,485 (GRCm39) D898G probably damaging Het
Esr2 T A 12: 76,168,498 (GRCm39) probably benign Het
Exosc10 T A 4: 148,647,344 (GRCm39) probably benign Het
Fat4 A T 3: 39,064,524 (GRCm39) R4827* probably null Het
Gm11596 A T 11: 99,683,624 (GRCm39) C165* probably null Het
Heatr5b A G 17: 79,115,901 (GRCm39) S852P probably benign Het
Mcm3ap C T 10: 76,306,639 (GRCm39) P251S probably benign Het
Nmur2 A G 11: 55,917,825 (GRCm39) V388A probably benign Het
Parp14 T C 16: 35,678,877 (GRCm39) T364A possibly damaging Het
Rarb T A 14: 16,434,207 (GRCm38) I370F possibly damaging Het
Rnf32 T A 5: 29,429,272 (GRCm39) I283N probably damaging Het
Smg8 A G 11: 86,975,979 (GRCm39) V77A probably damaging Het
Tnn T C 1: 159,953,144 (GRCm39) E632G probably damaging Het
Trip11 A T 12: 101,849,604 (GRCm39) S1487T probably damaging Het
Vmn2r58 T C 7: 41,514,753 (GRCm39) K72R probably benign Het
Vmn2r92 A G 17: 18,405,423 (GRCm39) I856V unknown Het
Other mutations in Commd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03162:Commd10 APN 18 47,220,117 (GRCm39) missense probably damaging 1.00
R0045:Commd10 UTSW 18 47,100,903 (GRCm39) missense possibly damaging 0.52
R1220:Commd10 UTSW 18 47,220,107 (GRCm39) missense probably damaging 0.98
R1735:Commd10 UTSW 18 47,123,552 (GRCm39) missense probably benign 0.18
R2049:Commd10 UTSW 18 47,096,814 (GRCm39) missense probably benign 0.03
R2135:Commd10 UTSW 18 47,123,604 (GRCm39) missense possibly damaging 0.70
R5330:Commd10 UTSW 18 47,093,497 (GRCm39) missense probably damaging 0.96
R5331:Commd10 UTSW 18 47,093,497 (GRCm39) missense probably damaging 0.96
R6250:Commd10 UTSW 18 47,096,755 (GRCm39) missense probably damaging 1.00
R7663:Commd10 UTSW 18 47,219,323 (GRCm39) missense probably benign
R7994:Commd10 UTSW 18 47,091,986 (GRCm39) missense possibly damaging 0.51
R8782:Commd10 UTSW 18 47,096,809 (GRCm39) missense probably damaging 1.00
Z1176:Commd10 UTSW 18 47,123,633 (GRCm39) nonsense probably null
Posted On 2013-12-09