Incidental Mutation 'IGL02101:Cmtm7'
ID 279758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmtm7
Ensembl Gene ENSMUSG00000032436
Gene Name CKLF-like MARVEL transmembrane domain containing 7
Synonyms Cklfsf7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL02101
Quality Score
Status
Chromosome 9
Chromosomal Location 114585904-114610924 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114592336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 87 (H87R)
Ref Sequence ENSEMBL: ENSMUSP00000081927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035009] [ENSMUST00000084867]
AlphaFold Q9ESD6
Predicted Effect probably damaging
Transcript: ENSMUST00000035009
AA Change: H87R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035009
Gene: ENSMUSG00000032436
AA Change: H87R

DomainStartEndE-ValueType
Pfam:MARVEL 32 152 8.3e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084867
AA Change: H87R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081927
Gene: ENSMUSG00000032436
AA Change: H87R

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 67 89 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217056
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 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 that regulates G1/S transition in the cell cycle, and epidermal growth factor receptor/protein kinase B signaling during tumor pathogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Heterozygous mice die shortly after birth. Null mutations in this gene are haploinsufficient. A chimeric mouse showed defects in B-1a cell numbers and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd163 T A 6: 124,284,246 (GRCm39) C139* probably null Het
Ces2g A G 8: 105,691,769 (GRCm39) probably null Het
Ckap5 T C 2: 91,402,885 (GRCm39) probably benign Het
Dennd3 A G 15: 73,399,794 (GRCm39) D220G possibly damaging Het
Dpp10 T C 1: 123,339,555 (GRCm39) Y324C probably damaging Het
Dsc3 C T 18: 20,134,963 (GRCm39) R7Q probably benign Het
Ezh1 T C 11: 101,086,392 (GRCm39) K598E possibly damaging Het
Ighv7-3 A G 12: 114,117,045 (GRCm39) L39P probably damaging Het
Il1rap T A 16: 26,442,932 (GRCm39) S9R possibly damaging Het
Mrgpra3 A G 7: 47,239,300 (GRCm39) C209R probably damaging Het
Oc90 G T 15: 65,769,638 (GRCm39) P73Q probably damaging Het
Or2m12 T C 16: 19,105,363 (GRCm39) I43M probably benign Het
Or3a1b G A 11: 74,012,571 (GRCm39) W152* probably null Het
Pccb A G 9: 100,869,894 (GRCm39) F346L possibly damaging Het
Pdxdc1 A G 16: 13,687,720 (GRCm39) I225T probably damaging Het
Pold3 A T 7: 99,749,703 (GRCm39) M154K probably damaging Het
Polr1a T G 6: 71,927,786 (GRCm39) C846G probably benign Het
Ppip5k1 C A 2: 121,162,089 (GRCm39) R978L possibly damaging Het
Ptpn4 A G 1: 119,615,408 (GRCm39) V582A probably damaging Het
Sez6l G T 5: 112,620,612 (GRCm39) Q323K probably damaging Het
Slc27a5 A T 7: 12,727,270 (GRCm39) I384N possibly damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Slc7a2 T C 8: 41,355,631 (GRCm39) F227L probably benign Het
Smad4 C A 18: 73,791,723 (GRCm39) A273S probably benign Het
Spata17 T C 1: 186,849,657 (GRCm39) I84V probably benign Het
Sphkap T C 1: 83,268,708 (GRCm39) T95A probably damaging Het
Tie1 T C 4: 118,329,995 (GRCm39) D1076G probably benign Het
Other mutations in Cmtm7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02863:Cmtm7 APN 9 114,592,457 (GRCm39) missense probably benign 0.43
Grandmaster UTSW 9 114,592,462 (GRCm39) critical splice acceptor site probably null
R0127:Cmtm7 UTSW 9 114,610,738 (GRCm39) missense probably benign 0.38
R1917:Cmtm7 UTSW 9 114,592,432 (GRCm39) missense probably damaging 1.00
R4578:Cmtm7 UTSW 9 114,592,351 (GRCm39) missense probably benign 0.08
R4723:Cmtm7 UTSW 9 114,592,459 (GRCm39) missense possibly damaging 0.94
R7420:Cmtm7 UTSW 9 114,592,462 (GRCm39) critical splice acceptor site probably null
R8325:Cmtm7 UTSW 9 114,592,415 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16