Incidental Mutation 'IGL02863:Cmtm7'
ID 362243
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 # IGL02863
Quality Score
Status
Chromosome 9
Chromosomal Location 114585904-114610924 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114592457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 47 (T47A)
Ref Sequence ENSEMBL: ENSMUSP00000081927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035009] [ENSMUST00000084867]
AlphaFold Q9ESD6
Predicted Effect probably benign
Transcript: ENSMUST00000035009
AA Change: T47A

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035009
Gene: ENSMUSG00000032436
AA Change: T47A

DomainStartEndE-ValueType
Pfam:MARVEL 32 152 8.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084867
AA Change: T47A

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000081927
Gene: ENSMUSG00000032436
AA Change: T47A

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,115,026 (GRCm39) H640L probably damaging Het
Akr1c19 T A 13: 4,287,112 (GRCm39) Y110* probably null Het
Alk T A 17: 72,204,830 (GRCm39) E1114V probably damaging Het
Anln A T 9: 22,287,661 (GRCm39) D213E probably damaging Het
Ano9 T C 7: 140,688,564 (GRCm39) N164S probably benign Het
Arhgef9 G A X: 94,121,110 (GRCm39) R266C probably damaging Het
Armh3 T A 19: 45,946,850 (GRCm39) N256Y probably damaging Het
Arnt2 C T 7: 83,917,145 (GRCm39) R483H probably damaging Het
Asxl3 A T 18: 22,656,541 (GRCm39) N1517I probably benign Het
Baiap3 C T 17: 25,463,476 (GRCm39) probably benign Het
Capn12 T A 7: 28,582,581 (GRCm39) V152E probably damaging Het
Casq2 A G 3: 102,051,491 (GRCm39) T324A possibly damaging Het
Csmd2 A G 4: 128,415,677 (GRCm39) S2669G probably benign Het
Dnah1 C T 14: 31,017,250 (GRCm39) R1520H probably damaging Het
Dnah8 T C 17: 30,988,671 (GRCm39) C3214R probably damaging Het
Elapor2 C A 5: 9,511,399 (GRCm39) C920* probably null Het
Fbn1 A T 2: 125,145,176 (GRCm39) C2688S possibly damaging Het
Fgf13 A G X: 58,109,029 (GRCm39) V201A probably damaging Het
Ghr A T 15: 3,357,584 (GRCm39) L228* probably null Het
Gpr22 A G 12: 31,760,006 (GRCm39) C39R probably benign Het
Hk1 T C 10: 62,131,534 (GRCm39) T274A possibly damaging Het
Il18r1 T A 1: 40,526,167 (GRCm39) L238M probably damaging Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Map3k21 A T 8: 126,654,280 (GRCm39) E366D probably benign Het
Mgat4e C T 1: 134,468,896 (GRCm39) E383K probably benign Het
Mrc2 G A 11: 105,224,446 (GRCm39) probably benign Het
Myh13 T A 11: 67,223,367 (GRCm39) L229Q probably damaging Het
Myo15a T A 11: 60,368,953 (GRCm39) L571Q probably damaging Het
Ncoa1 T A 12: 4,347,513 (GRCm39) M354L probably benign Het
Nomo1 T C 7: 45,696,340 (GRCm39) F286S probably damaging Het
Ocstamp A G 2: 165,239,428 (GRCm39) F253L probably damaging Het
Or10ak9 T G 4: 118,726,083 (GRCm39) I34S possibly damaging Het
Or8j3c A G 2: 86,253,457 (GRCm39) S188P probably benign Het
Osbpl8 T C 10: 111,120,286 (GRCm39) probably benign Het
Parp4 T C 14: 56,886,243 (GRCm39) L1774P unknown Het
Paxip1 T C 5: 27,964,393 (GRCm39) S729G probably benign Het
Phlpp1 T A 1: 106,304,027 (GRCm39) probably null Het
Pkd1 G A 17: 24,788,726 (GRCm39) G828D possibly damaging Het
Ppp4r3c2 C T X: 88,796,429 (GRCm39) P87L possibly damaging Het
Raver1 A G 9: 20,987,267 (GRCm39) L670P probably damaging Het
Rhd A G 4: 134,612,621 (GRCm39) I291V probably damaging Het
Rorb C T 19: 18,929,617 (GRCm39) E377K probably benign Het
Slc1a5 T C 7: 16,527,646 (GRCm39) I314T probably benign Het
Synj1 T C 16: 90,758,322 (GRCm39) T841A possibly damaging Het
Tenm4 T A 7: 96,522,913 (GRCm39) L1448H probably damaging Het
Tmc3 G T 7: 83,271,494 (GRCm39) S882I probably benign Het
Tmc3 A T 7: 83,271,493 (GRCm39) S882C possibly damaging Het
Tmem168 T C 6: 13,582,917 (GRCm39) N271D probably damaging Het
Uck1 G A 2: 32,148,334 (GRCm39) R161C probably benign Het
Usp13 A G 3: 32,973,096 (GRCm39) I759V possibly damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn2r115 G T 17: 23,578,257 (GRCm39) V577F probably damaging Het
Other mutations in Cmtm7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02101:Cmtm7 APN 9 114,592,336 (GRCm39) missense probably damaging 1.00
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 2015-12-18