Incidental Mutation 'R6511:Commd3'
ID 519899
Institutional Source Beutler Lab
Gene Symbol Commd3
Ensembl Gene ENSMUSG00000051154
Gene Name COMM domain containing 3
Synonyms Bup, D2Ertd542e
MMRRC Submission 044639-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.797) question?
Stock # R6511 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 18677246-18681042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 18679650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 148 (G148R)
Ref Sequence ENSEMBL: ENSMUSP00000127385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028071] [ENSMUST00000061158] [ENSMUST00000171845] [ENSMUST00000150834]
AlphaFold Q63829
Predicted Effect probably benign
Transcript: ENSMUST00000028071
SMART Domains Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739

DomainStartEndE-ValueType
RING 18 56 4.34e-5 SMART
low complexity region 146 159 N/A INTRINSIC
low complexity region 264 276 N/A INTRINSIC
low complexity region 313 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061158
AA Change: G148R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000049882
Gene: ENSMUSG00000051154
AA Change: G148R

DomainStartEndE-ValueType
Pfam:HCaRG 18 191 5.4e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133685
Predicted Effect probably benign
Transcript: ENSMUST00000171845
AA Change: G148R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000127385
Gene: ENSMUSG00000051154
AA Change: G148R

DomainStartEndE-ValueType
Pfam:HCaRG 14 192 1.2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151974
Predicted Effect probably benign
Transcript: ENSMUST00000150834
SMART Domains Protein: ENSMUSP00000119331
Gene: ENSMUSG00000026739

DomainStartEndE-ValueType
RING 18 56 4.34e-5 SMART
low complexity region 146 159 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133828
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,195,344 (GRCm39) H718Y probably damaging Het
Abcc8 G A 7: 45,800,285 (GRCm39) T499I possibly damaging Het
Azin2 C A 4: 128,828,259 (GRCm39) R316L probably damaging Het
Cep85l C T 10: 53,154,188 (GRCm39) V702I probably benign Het
Cfap69 A T 5: 5,667,220 (GRCm39) C442S probably damaging Het
Cyfip2 T C 11: 46,087,135 (GRCm39) T1252A probably benign Het
Cyp4a30b A T 4: 115,313,905 (GRCm39) D162V probably damaging Het
Exoc3l G T 8: 106,019,887 (GRCm39) T346K probably benign Het
Gas8 T C 8: 124,250,896 (GRCm39) V123A probably benign Het
Hmcn2 T G 2: 31,246,354 (GRCm39) D774E possibly damaging Het
Itga1 G T 13: 115,129,037 (GRCm39) S540R probably damaging Het
Itpr2 T C 6: 146,231,225 (GRCm39) N1145S probably damaging Het
Kcnc2 C T 10: 112,297,972 (GRCm39) probably benign Het
Lrp5 G A 19: 3,702,296 (GRCm39) R174W probably damaging Het
Lrrn4 T G 2: 132,712,246 (GRCm39) S526R probably benign Het
Map3k6 G A 4: 132,975,389 (GRCm39) R708H probably damaging Het
Mefv T C 16: 3,533,810 (GRCm39) T154A probably benign Het
Mrtfb T A 16: 13,197,714 (GRCm39) S66R probably damaging Het
Mtif2 G T 11: 29,486,949 (GRCm39) A320S possibly damaging Het
Nos2 A G 11: 78,846,290 (GRCm39) probably null Het
Or4k15b A G 14: 50,272,266 (GRCm39) L198P probably damaging Het
Or9g4 A G 2: 85,505,184 (GRCm39) S104P possibly damaging Het
Pip5k1c T C 10: 81,146,651 (GRCm39) Y44H probably damaging Het
Ppp1r13b T C 12: 111,798,001 (GRCm39) E972G probably damaging Het
Prdm12 T C 2: 31,530,321 (GRCm39) S71P probably damaging Het
Prkag2 G T 5: 25,305,286 (GRCm39) probably benign Het
Ptprb T C 10: 116,182,725 (GRCm39) L1467P probably damaging Het
Rnf43 G A 11: 87,622,989 (GRCm39) V697I probably benign Het
Rpl7 C A 1: 16,173,889 (GRCm39) A12S probably benign Het
Slc25a54 T G 3: 109,001,572 (GRCm39) I120S possibly damaging Het
Slc41a2 T C 10: 83,119,652 (GRCm39) H370R probably damaging Het
Speer1d A G 5: 11,307,275 (GRCm39) Y51C probably benign Het
Sv2c C T 13: 96,185,033 (GRCm39) V215I probably benign Het
Synpo2l T C 14: 20,712,518 (GRCm39) E34G probably damaging Het
Tubgcp5 T A 7: 55,467,140 (GRCm39) C703* probably null Het
Vmn1r158 T C 7: 22,490,116 (GRCm39) K31R probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp2 A T 11: 50,791,234 (GRCm39) C270S probably damaging Het
Other mutations in Commd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Commd3 APN 2 18,678,739 (GRCm39) missense possibly damaging 0.68
IGL00972:Commd3 APN 2 18,679,476 (GRCm39) missense probably benign 0.04
IGL01309:Commd3 APN 2 18,677,289 (GRCm39) missense probably benign 0.26
IGL01575:Commd3 APN 2 18,679,528 (GRCm39) critical splice donor site probably null
IGL02207:Commd3 APN 2 18,678,819 (GRCm39) critical splice donor site probably null
R0062:Commd3 UTSW 2 18,679,514 (GRCm39) splice site probably null
R0062:Commd3 UTSW 2 18,679,514 (GRCm39) splice site probably null
R0699:Commd3 UTSW 2 18,679,786 (GRCm39) missense possibly damaging 0.50
R1223:Commd3 UTSW 2 18,679,779 (GRCm39) missense probably benign 0.00
R1959:Commd3 UTSW 2 18,678,774 (GRCm39) missense probably benign 0.07
R3011:Commd3 UTSW 2 18,679,499 (GRCm39) missense probably damaging 1.00
R4710:Commd3 UTSW 2 18,679,093 (GRCm39) missense probably benign 0.02
R4821:Commd3 UTSW 2 18,677,339 (GRCm39) missense probably benign
R5098:Commd3 UTSW 2 18,678,988 (GRCm39) missense possibly damaging 0.85
R5456:Commd3 UTSW 2 18,678,968 (GRCm39) missense probably damaging 0.96
R5891:Commd3 UTSW 2 18,678,626 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GCAGATCTCTCCCTCATATAACTG -3'
(R):5'- CAGTTCTCAAATGCCCACTGAAAG -3'

Sequencing Primer
(F):5'- CATATAACTGATGTTTCTTGGCGC -3'
(R):5'- GGTCCTAATACTGTACCTGTAACTG -3'
Posted On 2018-06-06