Incidental Mutation 'IGL03405:Commd6'
ID 421562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Commd6
Ensembl Gene ENSMUSG00000075486
Gene Name COMM domain containing 6
Synonyms 1110059J08Rik, 1700063H17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # IGL03405
Quality Score
Status
Chromosome 14
Chromosomal Location 101871202-101877907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101874508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 28 (V28E)
Ref Sequence ENSEMBL: ENSMUSP00000131634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100339] [ENSMUST00000168587]
AlphaFold Q3V4B5
Predicted Effect probably damaging
Transcript: ENSMUST00000100339
AA Change: V32E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097912
Gene: ENSMUSG00000075486
AA Change: V32E

DomainStartEndE-ValueType
Pfam:HCaRG 7 86 6.4e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131022
Predicted Effect probably damaging
Transcript: ENSMUST00000168587
AA Change: V28E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131634
Gene: ENSMUSG00000075486
AA Change: V28E

DomainStartEndE-ValueType
Pfam:HCaRG 5 83 3.3e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227868
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,907,229 (GRCm39) V101A probably benign Het
Btbd3 G A 2: 138,121,681 (GRCm39) M121I probably damaging Het
Caprin1 G A 2: 103,609,850 (GRCm39) R143C probably damaging Het
Cfap206 A G 4: 34,716,445 (GRCm39) I340T possibly damaging Het
Chmp6 A G 11: 119,806,273 (GRCm39) Y33C probably damaging Het
Clstn3 T C 6: 124,415,327 (GRCm39) D679G possibly damaging Het
Col24a1 G A 3: 145,020,918 (GRCm39) A430T possibly damaging Het
Eno2 T A 6: 124,740,848 (GRCm39) Y236F probably benign Het
Erbb4 T C 1: 68,369,397 (GRCm39) S415G probably benign Het
Evpl A G 11: 116,118,753 (GRCm39) I648T possibly damaging Het
Fat1 T A 8: 45,478,278 (GRCm39) D2441E probably damaging Het
Fat4 T C 3: 39,012,599 (GRCm39) V2298A probably benign Het
Fbxl8 C A 8: 105,994,752 (GRCm39) T88K probably benign Het
Ganc A G 2: 120,264,247 (GRCm39) H400R probably damaging Het
Helb G A 10: 119,925,701 (GRCm39) T892I probably damaging Het
Jaml A T 9: 45,005,107 (GRCm39) K124N possibly damaging Het
Llgl2 G T 11: 115,741,668 (GRCm39) E599D probably benign Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nr2e1 G A 10: 42,444,377 (GRCm39) A244V probably damaging Het
Obscn T C 11: 58,890,950 (GRCm39) K7194R unknown Het
Or2o1 A G 11: 49,051,713 (GRCm39) probably null Het
Or5m8 A G 2: 85,822,230 (GRCm39) Q23R possibly damaging Het
Rasgrf2 A T 13: 92,044,170 (GRCm39) I961N probably damaging Het
Retreg3 T C 11: 100,991,795 (GRCm39) D46G probably damaging Het
Rtp2 A C 16: 23,746,326 (GRCm39) S122A probably benign Het
Sbf2 T A 7: 110,062,139 (GRCm39) D146V probably damaging Het
Slc39a13 A G 2: 90,893,448 (GRCm39) V324A probably damaging Het
Sptan1 A G 2: 29,915,593 (GRCm39) T2013A probably damaging Het
Tnni3k A G 3: 154,498,404 (GRCm39) probably benign Het
Tnpo1 C T 13: 99,000,348 (GRCm39) E340K probably damaging Het
Trpm2 G A 10: 77,801,906 (GRCm39) probably benign Het
Ttn A G 2: 76,539,276 (GRCm39) L34570P possibly damaging Het
Vmn2r100 T C 17: 19,752,186 (GRCm39) V806A probably damaging Het
Wdr70 A G 15: 8,065,352 (GRCm39) S237P possibly damaging Het
Wnk1 T C 6: 119,930,856 (GRCm39) N896S probably benign Het
Zan T A 5: 137,422,859 (GRCm39) D2718V unknown Het
Other mutations in Commd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Commd6 APN 14 101,877,738 (GRCm39) intron probably benign
IGL02469:Commd6 APN 14 101,874,463 (GRCm39) missense probably damaging 1.00
R0008:Commd6 UTSW 14 101,877,709 (GRCm39) intron probably benign
R4676:Commd6 UTSW 14 101,877,720 (GRCm39) intron probably benign
R6689:Commd6 UTSW 14 101,877,895 (GRCm39) unclassified probably benign
R6841:Commd6 UTSW 14 101,874,534 (GRCm39) missense probably damaging 1.00
R6875:Commd6 UTSW 14 101,871,786 (GRCm39) missense probably damaging 0.98
R6983:Commd6 UTSW 14 101,874,488 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02