Incidental Mutation 'IGL02930:Cmtm2b'
ID364057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmtm2b
Ensembl Gene ENSMUSG00000035785
Gene NameCKLF-like MARVEL transmembrane domain containing 2B
Synonyms1700013O04Rik, Cklfsf2b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL02930
Quality Score
Status
Chromosome8
Chromosomal Location104322230-104330764 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 104329770 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 104 (M104L)
Ref Sequence ENSEMBL: ENSMUSP00000043127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041973] [ENSMUST00000212912]
Predicted Effect probably benign
Transcript: ENSMUST00000041973
AA Change: M104L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000043127
Gene: ENSMUSG00000035785
AA Change: M104L

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 probably benign
Transcript: ENSMUST00000212912
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,378,226 N3433S possibly damaging Het
Actl9 T C 17: 33,434,099 S378P probably damaging Het
Aldh6a1 C A 12: 84,433,982 L426F possibly damaging Het
Ankef1 T C 2: 136,550,325 I478T possibly damaging Het
Cabs1 A G 5: 87,979,886 D132G probably damaging Het
Ccdc39 T C 3: 33,825,494 E475G probably damaging Het
Cops2 T C 2: 125,832,189 probably benign Het
Dnajc4 C A 19: 6,989,433 V176F possibly damaging Het
Eepd1 A G 9: 25,483,240 N267D probably damaging Het
Elobl T G 11: 88,965,186 D17A possibly damaging Het
Erich6 G A 3: 58,622,354 probably benign Het
Flna G A X: 74,223,900 R2548C probably damaging Het
Gm6878 T G 14: 67,310,990 probably benign Het
Gpc1 G T 1: 92,857,299 E355* probably null Het
Islr C T 9: 58,158,200 probably benign Het
Mex3a A T 3: 88,536,225 I203L probably benign Het
Olfr482 A T 7: 108,095,414 I52N probably damaging Het
Olfr794 T C 10: 129,571,315 I220T probably damaging Het
Olfr938 G T 9: 39,078,012 H244Q probably damaging Het
Prokr2 T C 2: 132,373,474 S195G probably benign Het
Pyroxd1 A T 6: 142,359,052 D335V probably damaging Het
Rps6kl1 T C 12: 85,149,774 T39A probably benign Het
Rusc2 G A 4: 43,416,376 A561T probably damaging Het
Sel1l3 A C 5: 53,123,217 V937G possibly damaging Het
Sh3pxd2b A G 11: 32,417,161 T382A possibly damaging Het
Tbx21 A G 11: 97,100,039 I271T probably damaging Het
Timeless T C 10: 128,247,191 V632A probably benign Het
Tle3 A G 9: 61,394,699 N67S possibly damaging Het
Tln2 G A 9: 67,393,662 R95* probably null Het
Trim24 A G 6: 37,951,445 probably benign Het
Uggt1 A T 1: 36,157,456 D1253E probably benign Het
Vmn1r8 A G 6: 57,036,594 K210R probably benign Het
Other mutations in Cmtm2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Cmtm2b APN 8 104330446 missense possibly damaging 0.95
IGL01629:Cmtm2b APN 8 104329788 missense possibly damaging 0.80
R0268:Cmtm2b UTSW 8 104322434 missense probably damaging 1.00
R0486:Cmtm2b UTSW 8 104330415 missense probably damaging 1.00
R6721:Cmtm2b UTSW 8 104322445 missense possibly damaging 0.91
R7582:Cmtm2b UTSW 8 104322721 missense probably damaging 1.00
Posted On2015-12-18