Incidental Mutation 'R5638:Cmtm4'
ID 440496
Institutional Source Beutler Lab
Gene Symbol Cmtm4
Ensembl Gene ENSMUSG00000096188
Gene Name CKLF-like MARVEL transmembrane domain containing 4
Synonyms Cklfsf4
MMRRC Submission 043168-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5638 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 105074823-105122439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105084356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 113 (I113V)
Ref Sequence ENSEMBL: ENSMUSP00000137332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179802]
AlphaFold Q8CJ61
Predicted Effect probably benign
Transcript: ENSMUST00000179802
AA Change: I113V

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137332
Gene: ENSMUSG00000096188
AA Change: I113V

DomainStartEndE-ValueType
low complexity region 15 25 N/A INTRINSIC
Pfam:MARVEL 49 170 1.9e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212110
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
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 of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik G A 10: 76,288,729 (GRCm39) A96T probably benign Het
A930018M24Rik T C 14: 51,134,414 (GRCm39) D76G possibly damaging Het
Adamtsl3 A T 7: 82,260,958 (GRCm39) R1631W probably damaging Het
Alg5 C T 3: 54,646,254 (GRCm39) H40Y probably benign Het
B3galt1 T C 2: 67,949,095 (GRCm39) L270P probably damaging Het
Ceacam3 A G 7: 16,893,860 (GRCm39) Y457C probably damaging Het
Cenpa A T 5: 30,830,736 (GRCm39) R124W probably damaging Het
Cfap44 A G 16: 44,275,894 (GRCm39) T1385A possibly damaging Het
Chd9 A T 8: 91,738,078 (GRCm39) H1570L possibly damaging Het
Dmxl1 T C 18: 50,024,693 (GRCm39) I1789T possibly damaging Het
Dpf3 G A 12: 83,371,714 (GRCm39) R174W probably damaging Het
Dusp26 T C 8: 31,584,169 (GRCm39) L92P probably damaging Het
Fndc7 T A 3: 108,770,208 (GRCm39) T659S possibly damaging Het
Fry A G 5: 150,282,546 (GRCm39) H357R possibly damaging Het
G0s2 A T 1: 192,954,859 (GRCm39) L75H probably damaging Het
Gm5493 A G 17: 22,969,065 (GRCm39) T82A probably benign Het
Herc2 T C 7: 55,854,164 (GRCm39) V3690A probably benign Het
Igf2bp3 C A 6: 49,064,734 (GRCm39) V537F probably damaging Het
Kntc1 C T 5: 123,956,538 (GRCm39) R2101W possibly damaging Het
Kpna2rt T C 17: 90,217,635 (GRCm39) E37G probably damaging Het
Mrgpra6 G T 7: 46,835,657 (GRCm39) P255T probably damaging Het
Ncor2 A G 5: 125,125,364 (GRCm39) V229A probably benign Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or6c210 T A 10: 129,495,969 (GRCm39) I98K possibly damaging Het
Or7g21 T A 9: 19,032,676 (GRCm39) C142S probably benign Het
Ppt2 C A 17: 34,844,823 (GRCm39) M140I probably benign Het
Ppwd1 A G 13: 104,356,906 (GRCm39) I203T probably damaging Het
Prpf6 A G 2: 181,287,381 (GRCm39) T589A probably benign Het
Psd4 T C 2: 24,287,427 (GRCm39) L453P probably benign Het
Ptpn14 A G 1: 189,519,038 (GRCm39) T23A probably damaging Het
Rxrb T C 17: 34,256,381 (GRCm39) L374P probably damaging Het
Scaf4 T C 16: 90,041,198 (GRCm39) E710G unknown Het
Sik1 C T 17: 32,069,802 (GRCm39) V216I probably damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc30a5 T A 13: 100,950,380 (GRCm39) K236* probably null Het
Slc38a4 A C 15: 96,910,871 (GRCm39) S135A probably damaging Het
Slc9a1 T A 4: 133,139,571 (GRCm39) V263D probably damaging Het
Socs2 T C 10: 95,228,745 (GRCm39) I168M unknown Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Sspo T C 6: 48,469,825 (GRCm39) S4508P possibly damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Stip1 G A 19: 7,009,883 (GRCm39) P213L probably damaging Het
Tarbp1 A T 8: 127,177,425 (GRCm39) L749Q probably damaging Het
Thsd7b T G 1: 129,523,270 (GRCm39) S24R probably benign Het
Upp2 T C 2: 58,680,107 (GRCm39) V293A probably damaging Het
Vmn2r65 C T 7: 84,590,047 (GRCm39) C623Y probably damaging Het
Vps54 T C 11: 21,258,799 (GRCm39) V742A probably damaging Het
Other mutations in Cmtm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2056:Cmtm4 UTSW 8 105,081,920 (GRCm39) missense probably damaging 1.00
R2058:Cmtm4 UTSW 8 105,081,920 (GRCm39) missense probably damaging 1.00
R4648:Cmtm4 UTSW 8 105,082,952 (GRCm39) missense possibly damaging 0.85
R5236:Cmtm4 UTSW 8 105,084,378 (GRCm39) missense probably damaging 1.00
R6181:Cmtm4 UTSW 8 105,082,997 (GRCm39) splice site probably null
R7140:Cmtm4 UTSW 8 105,081,827 (GRCm39) missense probably damaging 1.00
R8993:Cmtm4 UTSW 8 105,081,798 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTTTTGCCATTAAGCTAGGATTCAC -3'
(R):5'- ACACAGCAGGCATGTCTGTC -3'

Sequencing Primer
(F):5'- GCCATTAAGCTAGGATTCACTTTAC -3'
(R):5'- CAGGCATGTCTGTCCATCAGTG -3'
Posted On 2016-11-08