Incidental Mutation 'R7533:Commd5'
ID 583429
Institutional Source Beutler Lab
Gene Symbol Commd5
Ensembl Gene ENSMUSG00000055041
Gene Name COMM domain containing 5
Synonyms D15Ertd81e, 2310065H03Rik, Hcarg
MMRRC Submission 045605-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R7533 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 76784110-76785505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76784776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 58 (A58T)
Ref Sequence ENSEMBL: ENSMUSP00000069159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004072] [ENSMUST00000068407] [ENSMUST00000109793] [ENSMUST00000229183] [ENSMUST00000230214]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000004072
SMART Domains Protein: ENSMUSP00000004072
Gene: ENSMUSG00000003970

DomainStartEndE-ValueType
Ribosomal_L2 11 90 5.53e-33 SMART
Ribosomal_L2_C 96 231 6.56e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068407
AA Change: A58T

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000069159
Gene: ENSMUSG00000055041
AA Change: A58T

DomainStartEndE-ValueType
Pfam:HCaRG 37 214 5.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109793
AA Change: A58T

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105416
Gene: ENSMUSG00000055041
AA Change: A58T

DomainStartEndE-ValueType
Pfam:HCaRG 39 213 2.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229183
Predicted Effect probably benign
Transcript: ENSMUST00000230214
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agr2 T C 12: 36,046,128 (GRCm39) probably null Het
Alpk2 A T 18: 65,437,674 (GRCm39) S1240T probably damaging Het
Atp8b2 G A 3: 89,852,831 (GRCm39) L144F Het
Cck T C 9: 121,319,201 (GRCm39) D94G probably damaging Het
Ccser1 A T 6: 61,615,474 (GRCm39) T659S probably benign Het
Cfap74 C A 4: 155,500,200 (GRCm39) D15E Het
Dctn2 A G 10: 127,103,347 (GRCm39) D34G possibly damaging Het
Ecpas T C 4: 58,809,411 (GRCm39) I1654M probably benign Het
Epha6 T C 16: 60,025,925 (GRCm39) T506A probably damaging Het
Fat4 A C 3: 39,061,406 (GRCm39) I4330L probably benign Het
Fcho2 G T 13: 98,921,307 (GRCm39) Q193K probably benign Het
Hace1 A T 10: 45,587,570 (GRCm39) I890L probably benign Het
Igsf11 T G 16: 38,829,236 (GRCm39) N102K probably benign Het
Il7r G A 15: 9,508,047 (GRCm39) S425L probably benign Het
Itga3 G T 11: 94,937,344 (GRCm39) Q1011K probably benign Het
Kif3c T A 12: 3,416,510 (GRCm39) I177N probably damaging Het
Neb G A 2: 52,114,578 (GRCm39) A1048V Het
Neu4 C T 1: 93,950,122 (GRCm39) T27M probably benign Het
Or52b3 T C 7: 102,203,718 (GRCm39) S76P probably damaging Het
P4htm T C 9: 108,474,136 (GRCm39) H134R probably benign Het
Padi6 T C 4: 140,458,506 (GRCm39) D462G probably damaging Het
Pi4ka T C 16: 17,115,525 (GRCm39) D1375G Het
Ptgr1 C T 4: 58,971,011 (GRCm39) R247H possibly damaging Het
Rad50 T C 11: 53,589,746 (GRCm39) N152D probably damaging Het
Serpina1c T A 12: 103,863,566 (GRCm39) K211N probably damaging Het
Sgsh T C 11: 119,238,696 (GRCm39) E256G probably damaging Het
Tnrc6b T C 15: 80,811,942 (GRCm39) probably null Het
Ube3d A G 9: 86,304,990 (GRCm39) F284S probably damaging Het
Usp13 A G 3: 32,973,091 (GRCm39) D757G probably damaging Het
Vmn1r173 C T 7: 23,402,071 (GRCm39) A102V probably benign Het
Vmn2r29 G T 7: 7,244,656 (GRCm39) A406D probably damaging Het
Wdfy3 G A 5: 102,030,354 (GRCm39) R2385C probably benign Het
Zfp112 A T 7: 23,824,752 (GRCm39) K244M possibly damaging Het
Zfp61 T C 7: 23,990,504 (GRCm39) Q549R probably benign Het
Other mutations in Commd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0658:Commd5 UTSW 15 76,784,768 (GRCm39) missense probably damaging 1.00
R0970:Commd5 UTSW 15 76,784,885 (GRCm39) splice site probably null
R5295:Commd5 UTSW 15 76,785,152 (GRCm39) missense possibly damaging 0.60
R5908:Commd5 UTSW 15 76,785,136 (GRCm39) missense probably benign 0.08
R7457:Commd5 UTSW 15 76,784,824 (GRCm39) missense probably damaging 0.96
R8446:Commd5 UTSW 15 76,785,094 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGCTACTGTGGTTAGTACC -3'
(R):5'- CCAAGTTCCTGGAGTTCGTC -3'

Sequencing Primer
(F):5'- TCTCCGGCCTGGTCAAGAAAG -3'
(R):5'- AGTTCGTCCTGGAAGGCATC -3'
Posted On 2019-10-17