Incidental Mutation 'IGL03310:Cmtm8'
ID 416531
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 # IGL03310
Quality Score
Status
Chromosome 9
Chromosomal Location 114618411-114673220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114619794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 117 (V117D)
Ref Sequence ENSEMBL: ENSMUSP00000043706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047013]
AlphaFold Q9CZR4
Predicted Effect probably benign
Transcript: ENSMUST00000047013
AA Change: V117D

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043706
Gene: ENSMUSG00000041012
AA Change: V117D

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 C T 9: 70,685,371 (GRCm39) R749C probably damaging Het
Atp9a A G 2: 168,481,879 (GRCm39) F872L probably damaging Het
Cacna1e A C 1: 154,317,997 (GRCm39) Y1462D probably damaging Het
Ccna1 T C 3: 54,958,041 (GRCm39) T7A probably benign Het
Ces1d A G 8: 93,901,816 (GRCm39) probably benign Het
Cnot1 A G 8: 96,462,308 (GRCm39) probably benign Het
Col24a1 A T 3: 145,019,744 (GRCm39) probably benign Het
Crispld1 T C 1: 17,815,701 (GRCm39) probably benign Het
Dnaja2 A T 8: 86,275,534 (GRCm39) N140K probably benign Het
Fktn A T 4: 53,720,120 (GRCm39) K6* probably null Het
Fryl C A 5: 73,293,659 (GRCm39) probably benign Het
Gm5117 T A 8: 32,228,836 (GRCm39) noncoding transcript Het
Gucy2c A C 6: 136,728,044 (GRCm39) S319R probably benign Het
Helz2 G A 2: 180,873,597 (GRCm39) A2299V probably benign Het
Hivep2 T C 10: 14,019,411 (GRCm39) S2061P probably damaging Het
Irx4 A G 13: 73,415,850 (GRCm39) N213S possibly damaging Het
Mark3 A G 12: 111,614,104 (GRCm39) T649A probably benign Het
Nav3 C T 10: 109,660,433 (GRCm39) probably null Het
Npr1 C T 3: 90,363,298 (GRCm39) E861K probably benign Het
Or52a5 A C 7: 103,426,634 (GRCm39) V306G probably benign Het
Or5a3 T C 19: 12,400,291 (GRCm39) V206A probably benign Het
Pcdhb10 C T 18: 37,545,374 (GRCm39) T150I probably damaging Het
Sdk2 A G 11: 113,684,151 (GRCm39) C2009R possibly damaging Het
Trgv7 A G 13: 19,362,664 (GRCm39) probably benign Het
Ttc16 T C 2: 32,652,409 (GRCm39) probably benign Het
Ttc39b T A 4: 83,165,896 (GRCm39) Y230F probably benign Het
Ubr1 A T 2: 120,694,898 (GRCm39) I1678N probably damaging Het
Other mutations in Cmtm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01372:Cmtm8 APN 9 114,619,755 (GRCm39) missense possibly damaging 0.94
IGL01693:Cmtm8 APN 9 114,618,773 (GRCm39) missense probably damaging 1.00
IGL02206:Cmtm8 APN 9 114,672,967 (GRCm39) missense probably benign
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 2016-08-02