Incidental Mutation 'IGL01693:Cmtm8'
ID 104185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmtm8
Ensembl Gene ENSMUSG00000041012
Gene Name CKLF-like MARVEL transmembrane domain containing 8
Synonyms 2700018N07Rik, Cklfsf8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL01693
Quality Score
Status
Chromosome 9
Chromosomal Location 114618411-114673220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 114618773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 160 (T160M)
Ref Sequence ENSEMBL: ENSMUSP00000043706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047013]
AlphaFold Q9CZR4
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
Akr1b8 T A 6: 34,340,271 (GRCm39) M145K possibly damaging Het
Arhgap39 T C 15: 76,610,167 (GRCm39) D943G probably null Het
Arhgap42 A T 9: 9,006,507 (GRCm39) W630R probably damaging Het
Bbs5 T A 2: 69,493,424 (GRCm39) S225T probably benign Het
Cacna1f A T X: 7,491,606 (GRCm39) N1159Y probably damaging Het
Catsperg1 A G 7: 28,884,523 (GRCm39) probably benign Het
Cemip2 A C 19: 21,779,251 (GRCm39) I354L probably benign Het
Cep15 T C 14: 12,287,380 (GRCm38) L55P probably damaging Het
Cep97 A T 16: 55,750,957 (GRCm39) W20R probably damaging Het
Csf2ra A G 19: 61,214,434 (GRCm39) S244P possibly damaging Het
Dnah7b C T 1: 46,397,307 (GRCm39) P3913S probably benign Het
Dnai4 T C 4: 102,944,527 (GRCm39) probably null Het
Ezh1 C T 11: 101,106,084 (GRCm39) M100I probably benign Het
Gadl1 C A 9: 115,778,653 (GRCm39) P189Q probably damaging Het
Gcnt2 G A 13: 41,041,549 (GRCm39) S236N probably benign Het
H1f7 A C 15: 98,154,262 (GRCm39) Y296D unknown Het
Hmcn1 T A 1: 150,459,031 (GRCm39) D5191V probably damaging Het
Mycbp2 A T 14: 103,365,415 (GRCm39) D4194E probably damaging Het
Ncf2 C A 1: 152,700,074 (GRCm39) T203K probably benign Het
Or5a1 C A 19: 12,097,921 (GRCm39) V40L probably benign Het
Pate8 G A 9: 36,492,662 (GRCm39) T81I probably benign Het
Phf8 T A X: 150,333,871 (GRCm39) V113E probably damaging Het
Pkm G T 9: 59,577,805 (GRCm39) K207N probably damaging Het
Slco1a6 G T 6: 142,078,935 (GRCm39) S120* probably null Het
Sox10 C T 15: 79,040,473 (GRCm39) V195M possibly damaging Het
Swt1 A G 1: 151,297,855 (GRCm39) I24T probably benign Het
Thada T C 17: 84,754,072 (GRCm39) T300A probably benign Het
Vmn2r17 T C 5: 109,600,384 (GRCm39) Y561H probably damaging Het
Other mutations in Cmtm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01372:Cmtm8 APN 9 114,619,755 (GRCm39) missense possibly damaging 0.94
IGL02206:Cmtm8 APN 9 114,672,967 (GRCm39) missense probably benign
IGL03310:Cmtm8 APN 9 114,619,794 (GRCm39) missense probably benign 0.44
R2107:Cmtm8 UTSW 9 114,625,176 (GRCm39) missense possibly damaging 0.96
R4833:Cmtm8 UTSW 9 114,625,233 (GRCm39) missense probably benign 0.10
R6033:Cmtm8 UTSW 9 114,625,141 (GRCm39) missense probably damaging 0.97
R6033:Cmtm8 UTSW 9 114,625,141 (GRCm39) missense probably damaging 0.97
Posted On 2014-01-21