Incidental Mutation 'IGL01693:Cmtm8'
ID104185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmtm8
Ensembl Gene ENSMUSG00000041012
Gene NameCKLF-like MARVEL transmembrane domain containing 8
Synonyms2700018N07Rik, Cklfsf8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL01693
Quality Score
Status
Chromosome9
Chromosomal Location114789345-114844156 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 114789705 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 160 (T160M)
Ref Sequence ENSEMBL: ENSMUSP00000043706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047013]
Predicted Effect probably damaging
Transcript: ENSMUST00000047013
AA Change: T160M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043706
Gene: ENSMUSG00000041012
AA Change: T160M

DomainStartEndE-ValueType
Pfam:MARVEL 36 162 6.5e-23 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene acts as a tumor suppressor, and plays a role in regulating the migration of tumor cells. The encoded protein is thought to function as a a negative regulator of epidermal growth factor-induced signaling. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik T C 14: 12,287,380 L55P probably damaging Het
Akr1b8 T A 6: 34,363,336 M145K possibly damaging Het
Arhgap39 T C 15: 76,725,967 D943G probably null Het
Arhgap42 A T 9: 9,006,506 W630R probably damaging Het
Bbs5 T A 2: 69,663,080 S225T probably benign Het
Cacna1f A T X: 7,625,367 N1159Y probably damaging Het
Catsperg1 A G 7: 29,185,098 probably benign Het
Cep97 A T 16: 55,930,594 W20R probably damaging Het
Csf2ra A G 19: 61,225,996 S244P possibly damaging Het
Dnah7b C T 1: 46,358,147 P3913S probably benign Het
Ezh1 C T 11: 101,215,258 M100I probably benign Het
Gadl1 C A 9: 115,949,585 P189Q probably damaging Het
Gcnt2 G A 13: 40,888,073 S236N probably benign Het
Gm17689 G A 9: 36,581,366 T81I probably benign Het
H1fnt A C 15: 98,256,381 Y296D unknown Het
Hmcn1 T A 1: 150,583,280 D5191V probably damaging Het
Mycbp2 A T 14: 103,127,979 D4194E probably damaging Het
Ncf2 C A 1: 152,824,323 T203K probably benign Het
Olfr76 C A 19: 12,120,557 V40L probably benign Het
Phf8 T A X: 151,550,875 V113E probably damaging Het
Pkm G T 9: 59,670,522 K207N probably damaging Het
Slco1a6 G T 6: 142,133,209 S120* probably null Het
Sox10 C T 15: 79,156,273 V195M possibly damaging Het
Swt1 A G 1: 151,422,104 I24T probably benign Het
Thada T C 17: 84,446,644 T300A probably benign Het
Tmem2 A C 19: 21,801,887 I354L probably benign Het
Vmn2r17 T C 5: 109,452,518 Y561H probably damaging Het
Wdr78 T C 4: 103,087,330 probably null Het
Other mutations in Cmtm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01372:Cmtm8 APN 9 114790687 missense possibly damaging 0.94
IGL02206:Cmtm8 APN 9 114843899 missense probably benign
IGL03310:Cmtm8 APN 9 114790726 missense probably benign 0.44
R2107:Cmtm8 UTSW 9 114796108 missense possibly damaging 0.96
R4833:Cmtm8 UTSW 9 114796165 missense probably benign 0.10
R6033:Cmtm8 UTSW 9 114796073 missense probably damaging 0.97
R6033:Cmtm8 UTSW 9 114796073 missense probably damaging 0.97
Posted On2014-01-21