Incidental Mutation 'IGL00433:Cmtm2b'
ID 4980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmtm2b
Ensembl Gene ENSMUSG00000035785
Gene Name CKLF-like MARVEL transmembrane domain containing 2B
Synonyms Cklfsf2b, 1700013O04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL00433
Quality Score
Status
Chromosome 8
Chromosomal Location 105048862-105057396 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105057078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 146 (I146T)
Ref Sequence ENSEMBL: ENSMUSP00000043127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041973] [ENSMUST00000212912]
AlphaFold Q9DAC0
Predicted Effect possibly damaging
Transcript: ENSMUST00000041973
AA Change: I146T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043127
Gene: ENSMUSG00000035785
AA Change: I146T

DomainStartEndE-ValueType
transmembrane domain 45 62 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
transmembrane domain 95 117 N/A INTRINSIC
transmembrane domain 127 149 N/A INTRINSIC
low complexity region 185 204 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000212912
AA Change: I62T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
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 links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G A 15: 94,292,522 (GRCm39) A196V probably benign Het
BC024139 A G 15: 76,009,300 (GRCm39) V238A probably benign Het
Bfar G A 16: 13,516,827 (GRCm39) D350N probably benign Het
C4b A T 17: 34,961,015 (GRCm39) F217Y possibly damaging Het
Camk1g T C 1: 193,029,657 (GRCm39) probably benign Het
Camkmt A G 17: 85,404,094 (GRCm39) probably benign Het
Cass4 T C 2: 172,258,170 (GRCm39) L56P probably damaging Het
Ccs A G 19: 4,875,636 (GRCm39) I243T possibly damaging Het
Cds2 T C 2: 132,139,213 (GRCm39) V152A probably damaging Het
Chd1l T C 3: 97,497,921 (GRCm39) N307D probably damaging Het
Cntnap3 T C 13: 64,920,545 (GRCm39) Y608C probably damaging Het
Cog5 A G 12: 31,735,703 (GRCm39) R157G probably damaging Het
Csmd1 A C 8: 16,281,387 (GRCm39) F713V probably damaging Het
Csrp3 T C 7: 48,480,440 (GRCm39) N175D probably benign Het
Exoc4 A G 6: 33,273,723 (GRCm39) D176G probably damaging Het
Fbxo10 T C 4: 45,058,684 (GRCm39) D351G probably damaging Het
Gm12185 A T 11: 48,798,049 (GRCm39) S815T probably benign Het
Gpld1 A G 13: 25,170,905 (GRCm39) probably benign Het
Hspa2 T C 12: 76,453,123 (GRCm39) C606R possibly damaging Het
Leo1 C T 9: 75,357,762 (GRCm39) probably benign Het
Mta3 C T 17: 84,015,861 (GRCm39) P21L probably damaging Het
Pkn1 T C 8: 84,407,635 (GRCm39) E471G probably damaging Het
Postn C T 3: 54,281,149 (GRCm39) R425C probably damaging Het
Reln A G 5: 22,250,007 (GRCm39) L676P probably damaging Het
Sin3a G A 9: 57,005,185 (GRCm39) V362M probably damaging Het
Slc6a7 C T 18: 61,134,363 (GRCm39) probably null Het
Smc6 A T 12: 11,349,264 (GRCm39) D749V possibly damaging Het
Smg5 C T 3: 88,258,735 (GRCm39) Q569* probably null Het
Sspo G A 6: 48,466,970 (GRCm39) C4130Y probably damaging Het
Tlcd3a T C 11: 76,098,817 (GRCm39) F164L probably damaging Het
Tnn A T 1: 159,925,776 (GRCm39) probably benign Het
Tomt C T 7: 101,551,393 (GRCm39) R29H probably benign Het
Uggt2 A T 14: 119,250,899 (GRCm39) D1199E probably benign Het
Usp33 A G 3: 152,079,046 (GRCm39) K433E probably benign Het
Vmn2r89 A G 14: 51,692,422 (GRCm39) Y75C probably damaging Het
Wnt7a C T 6: 91,342,973 (GRCm39) G303D probably damaging Het
Other mutations in Cmtm2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Cmtm2b APN 8 105,056,420 (GRCm39) missense possibly damaging 0.80
IGL02930:Cmtm2b APN 8 105,056,402 (GRCm39) missense probably benign 0.01
R0268:Cmtm2b UTSW 8 105,049,066 (GRCm39) missense probably damaging 1.00
R0486:Cmtm2b UTSW 8 105,057,047 (GRCm39) missense probably damaging 1.00
R6721:Cmtm2b UTSW 8 105,049,077 (GRCm39) missense possibly damaging 0.91
R7582:Cmtm2b UTSW 8 105,049,353 (GRCm39) missense probably damaging 1.00
R7952:Cmtm2b UTSW 8 105,057,203 (GRCm39) nonsense probably null
R7991:Cmtm2b UTSW 8 105,056,419 (GRCm39) nonsense probably null
R9289:Cmtm2b UTSW 8 105,048,980 (GRCm39) unclassified probably benign
Posted On 2012-04-20