Incidental Mutation 'IGL00475:Commd9'
ID9836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Commd9
Ensembl Gene ENSMUSG00000027163
Gene NameCOMM domain containing 9
Synonyms1810029F08Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00475
Quality Score
Status
Chromosome2
Chromosomal Location101886247-101901646 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 101895156 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 25 (R25*)
Ref Sequence ENSEMBL: ENSMUSP00000028584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028584]
Predicted Effect probably null
Transcript: ENSMUST00000028584
AA Change: R25*
SMART Domains Protein: ENSMUSP00000028584
Gene: ENSMUSG00000027163
AA Change: R25*

DomainStartEndE-ValueType
Pfam:HCaRG 15 194 9e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156799
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, neural tube edema, and cardiovascular abnormalities including hemorrhages, heart hypoplasia, focal myocardial wall necrosis and narrowing of the dorsal aortas, and alterations in cranial blood vessels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G A 16: 14,436,573 A583T probably damaging Het
Cdh10 A T 15: 19,013,263 I650F probably damaging Het
Ces1a A G 8: 93,020,467 L548P probably damaging Het
Depdc1b T A 13: 108,357,440 Y121N probably benign Het
Epha6 A T 16: 59,915,962 F736L probably damaging Het
Fancd2 A G 6: 113,568,610 K868R probably benign Het
Fgd1 C T X: 151,072,444 A502V probably benign Het
Gm5111 A T 6: 48,589,686 probably benign Het
Gria1 G T 11: 57,242,941 G480* probably null Het
Krt5 T C 15: 101,712,641 Y57C unknown Het
Metap1d C T 2: 71,515,746 A217V probably damaging Het
Mrpl1 A G 5: 96,226,285 K140E probably damaging Het
Mta3 C T 17: 83,708,432 P21L probably damaging Het
Nanog A T 6: 122,711,536 probably null Het
Ogn A G 13: 49,622,915 I277V probably benign Het
Pole T A 5: 110,291,096 Y187* probably null Het
Psme4 A T 11: 30,845,252 K1254I probably benign Het
Rac1 G A 5: 143,507,338 A165V possibly damaging Het
Srcap T A 7: 127,552,921 M2185K possibly damaging Het
Svep1 T A 4: 58,176,077 D274V probably damaging Het
Taf2 A T 15: 55,055,850 Y376* probably null Het
Tead1 C A 7: 112,839,455 T66K probably damaging Het
Vps53 C T 11: 76,077,035 probably null Het
Zfp658 A G 7: 43,574,076 R592G possibly damaging Het
Zfyve1 T A 12: 83,555,711 probably null Het
Other mutations in Commd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02232:Commd9 APN 2 101900979 missense probably benign 0.34
IGL03109:Commd9 APN 2 101897170 missense probably benign
R1873:Commd9 UTSW 2 101897157 missense probably benign 0.09
R1933:Commd9 UTSW 2 101901031 missense probably damaging 1.00
R3826:Commd9 UTSW 2 101897141 missense probably benign 0.18
R3828:Commd9 UTSW 2 101897141 missense probably benign 0.18
R3829:Commd9 UTSW 2 101897141 missense probably benign 0.18
R3968:Commd9 UTSW 2 101897141 missense probably benign 0.18
R3969:Commd9 UTSW 2 101897141 missense probably benign 0.18
R3970:Commd9 UTSW 2 101897141 missense probably benign 0.18
R4059:Commd9 UTSW 2 101895154 missense possibly damaging 0.93
R4795:Commd9 UTSW 2 101898896 missense probably benign 0.00
R5289:Commd9 UTSW 2 101898894 missense probably benign 0.00
R5426:Commd9 UTSW 2 101898875 missense probably damaging 1.00
R5437:Commd9 UTSW 2 101901028 missense probably damaging 1.00
R7209:Commd9 UTSW 2 101895138 missense possibly damaging 0.94
R7425:Commd9 UTSW 2 101899900 nonsense probably null
R7552:Commd9 UTSW 2 101901065 missense probably damaging 1.00
Posted On2012-12-06