Incidental Mutation 'IGL03310:Cmtm8'
ID416531
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: 0.123) question?
Stock #IGL03310
Quality Score
Status
Chromosome9
Chromosomal Location114789345-114844156 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114790726 bp
ZygosityHeterozygous
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]
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: 70,778,089 R749C probably damaging Het
Atp9a A G 2: 168,639,959 F872L probably damaging Het
Cacna1e A C 1: 154,442,251 Y1462D probably damaging Het
Ccna1 T C 3: 55,050,620 T7A probably benign Het
Ces1d A G 8: 93,175,188 probably benign Het
Cnot1 A G 8: 95,735,680 probably benign Het
Col24a1 A T 3: 145,313,983 probably benign Het
Crispld1 T C 1: 17,745,477 probably benign Het
Dnaja2 A T 8: 85,548,905 N140K probably benign Het
Fktn A T 4: 53,720,120 K6* probably null Het
Fryl C A 5: 73,136,316 probably benign Het
Gm5117 T A 8: 31,738,808 noncoding transcript Het
Gucy2c A C 6: 136,751,046 S319R probably benign Het
Helz2 G A 2: 181,231,804 A2299V probably benign Het
Hivep2 T C 10: 14,143,667 S2061P probably damaging Het
Irx4 A G 13: 73,267,731 N213S possibly damaging Het
Mark3 A G 12: 111,647,670 T649A probably benign Het
Nav3 C T 10: 109,824,572 probably null Het
Npr1 C T 3: 90,455,991 E861K probably benign Het
Olfr1441 T C 19: 12,422,927 V206A probably benign Het
Olfr68 A C 7: 103,777,427 V306G probably benign Het
Pcdhb10 C T 18: 37,412,321 T150I probably damaging Het
Sdk2 A G 11: 113,793,325 C2009R possibly damaging Het
Tcrg-V7 A G 13: 19,178,494 probably benign Het
Ttc16 T C 2: 32,762,397 probably benign Het
Ttc39b T A 4: 83,247,659 Y230F probably benign Het
Ubr1 A T 2: 120,864,417 I1678N probably damaging Het
Other mutations in Cmtm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01372:Cmtm8 APN 9 114790687 missense possibly damaging 0.94
IGL01693:Cmtm8 APN 9 114789705 missense probably damaging 1.00
IGL02206:Cmtm8 APN 9 114843899 missense probably benign
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 On2016-08-02