Incidental Mutation 'R7420:Cmtm7'
ID 575614
Institutional Source Beutler Lab
Gene Symbol Cmtm7
Ensembl Gene ENSMUSG00000032436
Gene Name CKLF-like MARVEL transmembrane domain containing 7
Synonyms Cklfsf7
MMRRC Submission 045498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R7420 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 114585904-114610924 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 114592462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035009] [ENSMUST00000035009] [ENSMUST00000084867] [ENSMUST00000084867]
AlphaFold Q9ESD6
Predicted Effect probably null
Transcript: ENSMUST00000035009
SMART Domains Protein: ENSMUSP00000035009
Gene: ENSMUSG00000032436

DomainStartEndE-ValueType
Pfam:MARVEL 32 152 8.3e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000035009
SMART Domains Protein: ENSMUSP00000035009
Gene: ENSMUSG00000032436

DomainStartEndE-ValueType
Pfam:MARVEL 32 152 8.3e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000084867
SMART Domains Protein: ENSMUSP00000081927
Gene: ENSMUSG00000032436

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 probably null
Transcript: ENSMUST00000084867
SMART Domains Protein: ENSMUSP00000081927
Gene: ENSMUSG00000032436

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 67 89 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
Meta Mutation Damage Score 0.9490 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 95% (54/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,141,303 (GRCm39) V6A probably benign Het
Adam29 T A 8: 56,325,933 (GRCm39) M174L probably benign Het
Ano1 G A 7: 144,209,378 (GRCm39) T274I probably benign Het
Atad5 A T 11: 79,986,688 (GRCm39) T592S probably benign Het
Bud13 C T 9: 46,199,113 (GRCm39) P158L probably benign Het
Card19 T C 13: 49,361,613 (GRCm39) Y6C probably damaging Het
Cd36 C G 5: 17,993,272 (GRCm39) V393L probably benign Het
Cd79a A T 7: 24,596,971 (GRCm39) R9* probably null Het
Cep164 T C 9: 45,679,840 (GRCm39) H1131R probably benign Het
Chia1 T A 3: 106,037,980 (GRCm39) S321T probably benign Het
Chrnd T A 1: 87,122,543 (GRCm39) V217E possibly damaging Het
Csn1s2a T C 5: 87,927,865 (GRCm39) S60P possibly damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Dnah2 C T 11: 69,369,623 (GRCm39) A1618T possibly damaging Het
Dnah9 A G 11: 66,008,233 (GRCm39) probably null Het
Epn1 A T 7: 5,100,687 (GRCm39) T546S possibly damaging Het
Fam135a A G 1: 24,051,567 (GRCm39) S1443P possibly damaging Het
Fam13b G T 18: 34,627,664 (GRCm39) P179Q probably damaging Het
Git2 T C 5: 114,868,431 (GRCm39) T647A probably benign Het
Gli2 T C 1: 118,763,669 (GRCm39) N1494S probably benign Het
Gm4952 G A 19: 12,604,265 (GRCm39) G226R probably damaging Het
Gm5460 T A 14: 33,758,714 (GRCm39) F156I probably damaging Het
Heatr5b A T 17: 79,115,909 (GRCm39) V849D probably damaging Het
Hepacam A G 9: 37,292,005 (GRCm39) D111G probably benign Het
Hk1 T C 10: 62,105,761 (GRCm39) D895G probably damaging Het
Irag1 A T 7: 110,470,680 (GRCm39) Y678* probably null Het
Kdm5b T C 1: 134,532,235 (GRCm39) V471A probably benign Het
Klhdc8b A G 9: 108,326,317 (GRCm39) Y239H possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krt82 T C 15: 101,454,022 (GRCm39) T229A probably damaging Het
Lrrc37 A T 11: 103,504,451 (GRCm39) S2506T probably benign Het
Lztr1 T C 16: 17,341,993 (GRCm39) L656P probably damaging Het
Mfrp T C 9: 44,013,773 (GRCm39) probably benign Het
Nfe2l1 A G 11: 96,710,739 (GRCm39) S497P probably benign Het
Or2ag1b G A 7: 106,288,227 (GRCm39) A237V possibly damaging Het
Or8b44 G T 9: 38,410,359 (GRCm39) L131F probably benign Het
Otud4 C A 8: 80,390,737 (GRCm39) T418K probably benign Het
Pcdhb21 A G 18: 37,648,256 (GRCm39) N462D probably damaging Het
Plch1 A G 3: 63,630,278 (GRCm39) S497P probably damaging Het
Plekha8 T C 6: 54,590,179 (GRCm39) V48A probably damaging Het
Ppp2r5d A T 17: 46,998,507 (GRCm39) F121L probably null Het
Prxl2c C T 13: 64,445,131 (GRCm39) G164D possibly damaging Het
Sdad1 G A 5: 92,453,596 (GRCm39) A64V possibly damaging Het
Selenop G T 15: 3,309,052 (GRCm39) A335S probably damaging Het
Shc3 T C 13: 51,585,271 (GRCm39) N448S probably benign Het
Shcbp1 G A 8: 4,798,737 (GRCm39) T394I probably benign Het
Slc39a11 G T 11: 113,138,648 (GRCm39) A276E probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Speg T A 1: 75,407,549 (GRCm39) S3185R probably damaging Het
Tmem100 A T 11: 89,926,579 (GRCm39) *135Y probably null Het
Ube2o A T 11: 116,430,898 (GRCm39) F1001I probably damaging Het
Usp7 T C 16: 8,527,985 (GRCm39) D148G probably benign Het
Vmn2r16 A G 5: 109,511,736 (GRCm39) T648A probably damaging Het
Vmn2r67 A G 7: 84,785,944 (GRCm39) L687P possibly damaging Het
Zcchc14 ACCGCCGCCGCCGCCGCC ACCGCCGCCGCCGCC 8: 122,378,530 (GRCm39) probably benign Het
Zfp800 A G 6: 28,243,718 (GRCm39) S416P probably benign Het
Other mutations in Cmtm7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02101:Cmtm7 APN 9 114,592,336 (GRCm39) missense probably damaging 1.00
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
R8325:Cmtm7 UTSW 9 114,592,415 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTCTGATAGTGGGGCCAAGTC -3'
(R):5'- AGCAGCCGACTGTTATTTTAGC -3'

Sequencing Primer
(F):5'- AGTCTCACTCTTACCGACAGGG -3'
(R):5'- TTTTAGCTAACATGCAGCCCAGG -3'
Posted On 2019-10-07