Incidental Mutation 'R5098:Commd3'
ID 388113
Institutional Source Beutler Lab
Gene Symbol Commd3
Ensembl Gene ENSMUSG00000051154
Gene Name COMM domain containing 3
Synonyms Bup, D2Ertd542e
MMRRC Submission 042687-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.797) question?
Stock # R5098 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 18677246-18681042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18678988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 102 (T102S)
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 possibly damaging
Transcript: ENSMUST00000061158
AA Change: T102S

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049882
Gene: ENSMUSG00000051154
AA Change: T102S

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 noncoding transcript
Transcript: ENSMUST00000154519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151974
Predicted Effect possibly damaging
Transcript: ENSMUST00000171845
AA Change: T102S

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127385
Gene: ENSMUSG00000051154
AA Change: T102S

DomainStartEndE-ValueType
Pfam:HCaRG 14 192 1.2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150590
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
Meta Mutation Damage Score 0.1251 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,847,944 (GRCm39) I784V probably benign Het
Agxt A G 1: 93,065,029 (GRCm39) H146R probably benign Het
Art5 A G 7: 101,747,177 (GRCm39) F201L probably damaging Het
Bcl2a1b T A 9: 89,081,432 (GRCm39) M7K probably benign Het
Card10 G A 15: 78,660,917 (GRCm39) A1030V probably benign Het
Ccdc66 G A 14: 27,220,750 (GRCm39) T58M probably damaging Het
Cd72 C T 4: 43,452,610 (GRCm39) G74R probably damaging Het
Cdc27 T C 11: 104,398,113 (GRCm39) K749R probably damaging Het
Cyp2f2 A G 7: 26,829,304 (GRCm39) T270A possibly damaging Het
Dclre1b A G 3: 103,716,452 (GRCm39) probably benign Het
Dennd1b T A 1: 139,061,459 (GRCm39) D380E probably damaging Het
Dhx58 T C 11: 100,585,999 (GRCm39) E674G probably benign Het
Dnaaf9 A G 2: 130,640,101 (GRCm39) S128P probably damaging Het
Ecpas T C 4: 58,877,048 (GRCm39) D129G probably damaging Het
Exoc5 T C 14: 49,286,304 (GRCm39) T108A possibly damaging Het
Fat4 T C 3: 38,942,438 (GRCm39) S444P probably benign Het
Gm3327 A T 14: 44,362,292 (GRCm39) I64F unknown Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gpr15 T A 16: 58,538,890 (GRCm39) R66S probably damaging Het
Hmga1b T C 11: 120,654,018 (GRCm39) S102P probably benign Het
Kat6b G A 14: 21,669,083 (GRCm39) probably benign Het
Kdm1b A G 13: 47,216,467 (GRCm39) Y279C probably damaging Het
Krtap9-3 C A 11: 99,488,816 (GRCm39) C22F probably benign Het
Map3k14 T A 11: 103,115,185 (GRCm39) D817V probably damaging Het
Mybpc1 T C 10: 88,381,926 (GRCm39) D588G probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t6 A G 14: 14,175,683 (GRCm38) V133A probably benign Het
Or5g29 A G 2: 85,420,976 (GRCm39) I31V probably benign Het
Pcdhb20 A G 18: 37,637,858 (GRCm39) D128G probably damaging Het
Pgap6 A T 17: 26,337,902 (GRCm39) N429Y probably damaging Het
Ppil6 A G 10: 41,366,616 (GRCm39) E47G probably null Het
Rad17 A T 13: 100,754,154 (GRCm39) *689K probably null Het
Scin A T 12: 40,127,541 (GRCm39) Y416* probably null Het
Serf1 A G 13: 100,245,575 (GRCm39) T18A probably benign Het
Sik2 T C 9: 50,906,891 (GRCm39) probably benign Het
Slc39a8 C A 3: 135,563,918 (GRCm39) N254K probably benign Het
Spint3 A G 2: 164,411,821 (GRCm39) F63L probably damaging Het
Suox A T 10: 128,507,027 (GRCm39) S334T probably damaging Het
Tas2r119 A G 15: 32,178,228 (GRCm39) M265V probably benign Het
Tmem126b A G 7: 90,118,850 (GRCm39) L146P probably damaging Het
Trpc3 G T 3: 36,717,047 (GRCm39) D330E probably benign Het
Ugt2a2 T C 5: 87,612,040 (GRCm39) E290G possibly damaging Het
Ugt2b37 T A 5: 87,390,812 (GRCm39) T352S probably damaging Het
Vmn1r40 T C 6: 89,691,930 (GRCm39) V249A probably damaging Het
Zc3h18 A G 8: 123,113,608 (GRCm39) D200G probably damaging Het
Zfp652 T C 11: 95,643,762 (GRCm39) V140A 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
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'- CCAGTGGTTTTAAAGCATTGTCATG -3'
(R):5'- TCCGCAGCTTGACACCTAAC -3'

Sequencing Primer
(F):5'- CATTGTCATGCAGCAGCTG -3'
(R):5'- CACAGTACCTACCTTCCCAGTAGG -3'
Posted On 2016-06-06