Incidental Mutation 'R1223:Commd3'
ID 152786
Institutional Source Beutler Lab
Gene Symbol Commd3
Ensembl Gene ENSMUSG00000051154
Gene Name COMM domain containing 3
Synonyms Bup, D2Ertd542e
MMRRC Submission 039292-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.797) question?
Stock # R1223 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 18677246-18681042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18679779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 163 (Y163H)
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: Y163H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049882
Gene: ENSMUSG00000051154
AA Change: Y163H

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: Y163H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127385
Gene: ENSMUSG00000051154
AA Change: Y163H

DomainStartEndE-ValueType
Pfam:HCaRG 14 192 1.2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137817
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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A T 16: 4,116,612 (GRCm39) V873E probably damaging Het
Arl10 A G 13: 54,726,744 (GRCm39) D174G probably damaging Het
Cd180 A T 13: 102,842,730 (GRCm39) Y592F possibly damaging Het
Ces3a A T 8: 105,784,661 (GRCm39) T548S probably benign Het
Chd2 T C 7: 73,134,265 (GRCm39) E694G probably damaging Het
Cyp8b1 A G 9: 121,744,070 (GRCm39) S421P possibly damaging Het
Cysltr2 A T 14: 73,267,539 (GRCm39) V57E probably damaging Het
Ddx47 G A 6: 134,989,277 (GRCm39) V34I possibly damaging Het
Dgkz T C 2: 91,769,660 (GRCm39) probably benign Het
Dsg2 G T 18: 20,706,550 (GRCm39) C22F probably benign Het
Gbp10 A C 5: 105,366,867 (GRCm39) V455G probably damaging Het
Gm12185 T A 11: 48,798,103 (GRCm39) I797F probably damaging Het
Katnip T A 7: 125,359,595 (GRCm39) V62E possibly damaging Het
Lrrk2 A G 15: 91,557,838 (GRCm39) E58G probably benign Het
Mrgprb1 A G 7: 48,097,435 (GRCm39) V159A possibly damaging Het
Mybphl A G 3: 108,282,512 (GRCm39) T182A possibly damaging Het
Or52e7 A T 7: 104,684,773 (GRCm39) I123F probably benign Het
Or9m1 G A 2: 87,733,163 (GRCm39) P286S probably damaging Het
Osr1 C T 12: 9,629,699 (GRCm39) L191F probably damaging Het
Pip4k2b G A 11: 97,609,720 (GRCm39) R406C probably damaging Het
Plce1 C T 19: 38,690,457 (GRCm39) L714F probably damaging Het
Plce1 T C 19: 38,755,670 (GRCm39) F1886S probably damaging Het
Ppp1cc A G 5: 122,306,277 (GRCm39) E32G probably damaging Het
Rnh1 A G 7: 140,743,120 (GRCm39) L260P probably damaging Het
Serpinb3a T A 1: 106,975,282 (GRCm39) N175I probably damaging Het
Sptbn5 T A 2: 119,902,525 (GRCm39) I68F probably damaging Het
Tas1r2 A T 4: 139,387,515 (GRCm39) T325S probably damaging Het
Tcirg1 T C 19: 3,948,733 (GRCm39) N484S probably benign Het
Tenm3 A T 8: 48,693,431 (GRCm39) M1833K possibly damaging Het
Thoc5 A G 11: 4,871,922 (GRCm39) E449G probably benign Het
Usp34 A G 11: 23,396,464 (GRCm39) probably null 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
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
R6511:Commd3 UTSW 2 18,679,650 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGGCGCTTGGAGTACCAGATAAAG -3'
(R):5'- AAATGCAGGCTACTGGGGATGTTAC -3'

Sequencing Primer
(F):5'- CTTGGAGTACCAGATAAAGGTAAAG -3'
(R):5'- GCTACTGGGGATGTTACTATGTTAC -3'
Posted On 2014-01-29