Incidental Mutation 'IGL02679:Cnnm3'
ID303301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnnm3
Ensembl Gene ENSMUSG00000001138
Gene Namecyclin M3
SynonymsAcdp3
Accession Numbers

Genbank: NM_053186, NM_001039551; MGI: 2151055

Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL02679
Quality Score
Status
Chromosome1
Chromosomal Location36511867-36528237 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36520158 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 490 (S490P)
Ref Sequence ENSEMBL: ENSMUSP00000095383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001166] [ENSMUST00000097776]
Predicted Effect probably benign
Transcript: ENSMUST00000001166
AA Change: S490P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000001166
Gene: ENSMUSG00000001138
AA Change: S490P

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 25 35 N/A INTRINSIC
low complexity region 87 104 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
Pfam:DUF21 142 295 3.2e-10 PFAM
Blast:CBS 329 379 9e-12 BLAST
Pfam:CBS 388 452 6.4e-6 PFAM
Blast:cNMP 527 668 2e-38 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000097776
AA Change: S490P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000095383
Gene: ENSMUSG00000001138
AA Change: S490P

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 25 35 N/A INTRINSIC
low complexity region 87 104 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
Pfam:DUF21 142 300 1e-19 PFAM
Blast:CBS 329 379 9e-12 BLAST
Pfam:CBS 388 452 5.1e-6 PFAM
Blast:cNMP 527 668 1e-37 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195264
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik T A 10: 81,182,979 probably benign Het
Adam5 A T 8: 24,806,526 Y302N probably damaging Het
Ankrd34c A T 9: 89,730,079 Y70N probably damaging Het
Asph G A 4: 9,601,349 P190S possibly damaging Het
Atp6v1h T C 1: 5,124,302 C235R probably damaging Het
Brwd1 A G 16: 96,002,823 L2049P probably benign Het
Capn2 T A 1: 182,472,584 I614F probably benign Het
Ccdc126 T A 6: 49,334,061 M1K probably null Het
Cdh9 T C 15: 16,832,230 I401T probably damaging Het
Cep57l1 T C 10: 41,729,386 E121G probably damaging Het
Cfap46 A G 7: 139,614,470 I2276T probably damaging Het
D430041D05Rik C T 2: 104,230,305 V731I possibly damaging Het
Fgf3 C A 7: 144,840,750 N100K probably damaging Het
Gas7 G A 11: 67,675,727 probably null Het
Gfm1 C T 3: 67,474,767 P725S possibly damaging Het
Gimap4 T A 6: 48,690,495 C61* probably null Het
Greb1 C T 12: 16,708,723 R664Q probably damaging Het
Kpnb1 T A 11: 97,177,260 I295F possibly damaging Het
Lamc3 A G 2: 31,945,398 E1577G probably benign Het
Lrrk1 C T 7: 66,274,872 V235M probably damaging Het
Mipol1 T A 12: 57,306,043 V56E possibly damaging Het
Mycbp2 T C 14: 103,205,185 I1927V probably benign Het
Ncaph A T 2: 127,124,864 N223K possibly damaging Het
Nipbl A G 15: 8,295,553 M2542T probably benign Het
Nolc1 C A 19: 46,083,029 probably benign Het
Olfr16 G A 1: 172,957,176 C127Y probably damaging Het
Olfr555 A G 7: 102,659,177 M119V possibly damaging Het
Pkhd1l1 T C 15: 44,530,045 probably null Het
Ppat A T 5: 76,919,469 C306S probably benign Het
Ptpn13 A T 5: 103,569,454 M1821L possibly damaging Het
Rabl3 C T 16: 37,541,925 S42L probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rfx3 G A 19: 27,849,737 H150Y possibly damaging Het
Rngtt A G 4: 33,356,098 M312V possibly damaging Het
Slc10a2 T A 8: 5,098,499 T149S probably damaging Het
Spata21 T C 4: 141,111,265 probably benign Het
Stx8 G T 11: 67,969,772 W6C probably damaging Het
Tcn2 T C 11: 3,927,504 E48G possibly damaging Het
Tctex1d2 T C 16: 32,425,307 V107A possibly damaging Het
Tecpr1 A T 5: 144,206,546 N670K probably benign Het
Tldc1 A T 8: 119,772,410 D114E probably benign Het
Tmem255b G A 8: 13,457,055 M240I probably benign Het
Ubr4 G A 4: 139,459,134 E651K probably damaging Het
Ubr5 T C 15: 38,002,314 T1498A probably benign Het
Vmn2r95 G A 17: 18,443,854 C445Y probably damaging Het
Zfp429 T A 13: 67,399,736 probably benign Het
Zfp804b T G 5: 6,771,392 D557A possibly damaging Het
Other mutations in Cnnm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Cnnm3 APN 1 36512875 missense probably benign 0.12
IGL02700:Cnnm3 APN 1 36513108 missense probably damaging 1.00
IGL03165:Cnnm3 APN 1 36525232 unclassified probably benign
R0003:Cnnm3 UTSW 1 36524043 missense probably benign 0.02
R0358:Cnnm3 UTSW 1 36521222 missense probably damaging 0.98
R1129:Cnnm3 UTSW 1 36513016 missense probably damaging 1.00
R1772:Cnnm3 UTSW 1 36518957 missense probably damaging 1.00
R2929:Cnnm3 UTSW 1 36524059 missense possibly damaging 0.55
R3153:Cnnm3 UTSW 1 36521222 missense probably damaging 0.98
R3154:Cnnm3 UTSW 1 36521222 missense probably damaging 0.98
R5376:Cnnm3 UTSW 1 36520678 missense probably damaging 1.00
R5810:Cnnm3 UTSW 1 36525199 missense probably benign 0.02
R6389:Cnnm3 UTSW 1 36520522 missense probably damaging 0.99
X0064:Cnnm3 UTSW 1 36512980 missense probably damaging 1.00
Z1177:Cnnm3 UTSW 1 36513033 missense possibly damaging 0.96
Posted On2015-04-16