Incidental Mutation 'IGL01309:Commd3'
ID73603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Commd3
Ensembl Gene ENSMUSG00000051154
Gene NameCOMM domain containing 3
SynonymsBup, D2Ertd542e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.769) question?
Stock #IGL01309
Quality Score
Status
Chromosome2
Chromosomal Location18672384-18676231 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18672478 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 5 (E5G)
Ref Sequence ENSEMBL: ENSMUSP00000127385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028071] [ENSMUST00000061158] [ENSMUST00000171845]
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: E5G

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000049882
Gene: ENSMUSG00000051154
AA Change: E5G

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: ENSMUST00000133828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154519
Predicted Effect probably benign
Transcript: ENSMUST00000171845
AA Change: E5G

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000127385
Gene: ENSMUSG00000051154
AA Change: E5G

DomainStartEndE-ValueType
Pfam:HCaRG 14 192 1.2e-54 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A G 16: 17,113,546 V275A possibly damaging Het
Adamts2 A G 11: 50,803,701 D1105G probably benign Het
Adgrb3 T A 1: 25,112,271 M195L possibly damaging Het
Adrm1 A G 2: 180,175,963 probably benign Het
Atg13 T A 2: 91,678,831 I457F possibly damaging Het
BC034090 T C 1: 155,226,384 N45D probably damaging Het
C3 C T 17: 57,209,652 probably benign Het
Cacna1a G A 8: 84,523,028 G221D probably damaging Het
Calr A G 8: 84,846,706 probably null Het
Chd3 C T 11: 69,357,731 V825I probably damaging Het
Chdh T G 14: 30,035,804 probably benign Het
Ckap5 T C 2: 91,570,184 V627A probably damaging Het
Ddi1 T C 9: 6,265,773 R199G probably damaging Het
Dennd4c A G 4: 86,805,487 probably benign Het
Dok7 G A 5: 35,079,568 G293D possibly damaging Het
Epm2aip1 T C 9: 111,273,528 V523A probably benign Het
Fam171b C T 2: 83,879,447 Q488* probably null Het
Gabbr1 G A 17: 37,048,607 probably null Het
Gm5965 T G 16: 88,778,331 S131A possibly damaging Het
Gpcpd1 T C 2: 132,550,324 D235G probably damaging Het
Grip1 A T 10: 119,931,302 K111* probably null Het
Itih4 G T 14: 30,891,749 D308Y probably damaging Het
Kcnj6 A G 16: 94,832,455 Y266H probably damaging Het
Lrrc41 T C 4: 116,096,466 L783P probably damaging Het
Map4k5 T C 12: 69,841,963 D298G probably benign Het
Mapkbp1 T C 2: 120,018,942 F712L probably damaging Het
Mcoln2 T C 3: 146,163,527 probably benign Het
Megf11 T A 9: 64,681,416 S532R probably benign Het
Mkx T C 18: 6,937,192 D284G probably benign Het
Mmp16 A G 4: 18,116,185 I596M probably damaging Het
Msto1 C A 3: 88,913,686 R34L probably benign Het
Mtmr9 A G 14: 63,526,805 L491P probably damaging Het
Olfr1196 T G 2: 88,700,966 Y121S probably damaging Het
Olfr12 T C 1: 92,620,335 M143T probably damaging Het
Olfr917 T A 9: 38,664,993 I284L probably benign Het
Otor T C 2: 143,078,612 V38A possibly damaging Het
Pcdhb12 G T 18: 37,436,154 D118Y probably damaging Het
Prelp T C 1: 133,914,807 H200R probably benign Het
Prmt5 T C 14: 54,509,877 Y481C probably damaging Het
Psg23 T G 7: 18,614,540 D114A probably damaging Het
Ptger4 A T 15: 5,242,758 Y127N probably damaging Het
Rabgap1l C A 1: 160,700,798 V385L probably benign Het
Rergl T A 6: 139,493,258 K191* probably null Het
Sart3 A G 5: 113,759,250 F252S probably damaging Het
Sbno1 A T 5: 124,381,706 S1169T probably benign Het
Serpinb8 C T 1: 107,604,718 T180M probably damaging Het
Sipa1l1 G A 12: 82,387,696 E747K probably benign Het
Sptb T A 12: 76,587,463 D2158V probably benign Het
Sycp2 T G 2: 178,358,111 D1024A probably benign Het
Tbr1 T G 2: 61,806,067 N262K possibly damaging Het
Tnrc6a A T 7: 123,171,494 I836F probably benign Het
Ttn T C 2: 76,938,747 E2823G probably damaging Het
Uqcrc1 T A 9: 108,948,958 L441Q possibly damaging Het
Vmn1r180 T C 7: 23,952,999 F196L probably damaging Het
Vmn2r111 T C 17: 22,569,016 I451M possibly damaging Het
Zcchc7 A T 4: 44,926,060 H353L probably damaging Het
Other mutations in Commd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Commd3 APN 2 18673928 missense possibly damaging 0.68
IGL00972:Commd3 APN 2 18674665 missense probably benign 0.04
IGL01575:Commd3 APN 2 18674717 critical splice donor site probably null
IGL02207:Commd3 APN 2 18674008 critical splice donor site probably null
R0062:Commd3 UTSW 2 18674703 unclassified probably null
R0062:Commd3 UTSW 2 18674703 unclassified probably null
R0699:Commd3 UTSW 2 18674975 missense possibly damaging 0.50
R1223:Commd3 UTSW 2 18674968 missense probably benign 0.00
R1959:Commd3 UTSW 2 18673963 missense probably benign 0.07
R3011:Commd3 UTSW 2 18674688 missense probably damaging 1.00
R4710:Commd3 UTSW 2 18674282 missense probably benign 0.02
R4821:Commd3 UTSW 2 18672528 missense probably benign
R5098:Commd3 UTSW 2 18674177 missense possibly damaging 0.85
R5456:Commd3 UTSW 2 18674157 missense probably damaging 0.96
R5891:Commd3 UTSW 2 18673815 intron probably benign
R6511:Commd3 UTSW 2 18674839 missense probably benign 0.00
Posted On2013-10-07