Incidental Mutation 'R6389:Cnnm3'
ID515660
Institutional Source Beutler Lab
Gene Symbol Cnnm3
Ensembl Gene ENSMUSG00000001138
Gene Namecyclin M3
SynonymsAcdp3
MMRRC Submission
Accession Numbers

Genbank: NM_053186, NM_001039551; MGI: 2151055

Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #R6389 (G1)
Quality Score205.009
Status Validated
Chromosome1
Chromosomal Location36511867-36528237 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36520522 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 514 (V514A)
Ref Sequence ENSEMBL: ENSMUSP00000095383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001166] [ENSMUST00000097776]
Predicted Effect probably damaging
Transcript: ENSMUST00000001166
AA Change: V514A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001166
Gene: ENSMUSG00000001138
AA Change: V514A

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 damaging
Transcript: ENSMUST00000097776
AA Change: V514A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095383
Gene: ENSMUSG00000001138
AA Change: V514A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (57/57)
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,497,830 L326R possibly damaging Het
5430403G16Rik G A 5: 109,676,019 P522S possibly damaging Het
Abcb11 A T 2: 69,323,894 N109K probably damaging Het
Actn1 T A 12: 80,174,522 M586L probably benign Het
Ago4 T A 4: 126,507,244 I603F probably damaging Het
Bicc1 A T 10: 70,958,922 V135D probably damaging Het
Bms1 T C 6: 118,403,235 N704D possibly damaging Het
Cadm4 A C 7: 24,499,534 Q78P probably benign Het
Ccdc114 G T 7: 45,948,516 V617F probably benign Het
Cfap74 T C 4: 155,423,336 I248T possibly damaging Het
Clu G C 14: 65,971,322 probably benign Het
Cntd1 A T 11: 101,285,751 I225F probably damaging Het
Col20a1 T C 2: 180,992,583 probably null Het
Ctnnal1 A G 4: 56,813,849 V640A probably benign Het
Cul4a A G 8: 13,140,278 T572A probably benign Het
D16Ertd472e A G 16: 78,545,183 S270P probably damaging Het
Dmp1 A T 5: 104,212,922 N488I probably damaging Het
Dnah14 G A 1: 181,651,202 probably null Het
Dst T C 1: 34,193,184 L3464P probably damaging Het
Fnbp4 C T 2: 90,745,535 P27S unknown Het
Fpr-rs3 A T 17: 20,623,968 F304I probably damaging Het
Gm13941 T C 2: 111,098,389 Q108R unknown Het
Hcn3 C T 3: 89,150,933 A339T possibly damaging Het
Inpp5f A G 7: 128,678,056 D460G probably damaging Het
Ism2 T C 12: 87,282,371 E253G possibly damaging Het
Klrg1 T C 6: 122,271,472 N156S probably damaging Het
Ksr2 A G 5: 117,414,842 N5S probably benign Het
Lrrc7 T G 3: 158,185,426 E368A probably damaging Het
Ly9 G C 1: 171,596,537 S482C probably damaging Het
Map3k1 T C 13: 111,769,441 D289G probably damaging Het
Mcub T C 3: 129,918,708 T173A probably benign Het
Mup16 T C 4: 61,518,940 E48G probably damaging Het
Naf1 C T 8: 66,861,028 S24L possibly damaging Het
Ncoa6 A G 2: 155,395,816 S2024P probably damaging Het
Nop56 C A 2: 130,277,887 Q83K probably damaging Het
Nt5e T C 9: 88,363,471 Y265H probably damaging Het
Olfr1151 C T 2: 87,858,023 P283S probably damaging Het
Olfr1197 A G 2: 88,728,672 V309A probably benign Het
Olfr551 A T 7: 102,588,472 N90K probably benign Het
Oxct2a T A 4: 123,323,427 K54* probably null Het
Oxct2b G T 4: 123,116,574 D96Y probably benign Het
Pisd A G 5: 32,764,847 Y250H probably damaging Het
Plekhm1 G T 11: 103,366,894 N1071K probably benign Het
Prr11 G A 11: 87,098,738 T269I possibly damaging Het
Ptpn4 T A 1: 119,721,954 H304L probably damaging Het
Rrp1b A G 17: 32,056,627 K383E possibly damaging Het
Sel1l2 C A 2: 140,245,354 A466S probably damaging Het
Slc9a4 A G 1: 40,580,684 I57V probably benign Het
Spag9 A G 11: 94,086,311 E81G probably damaging Het
Tbr1 A G 2: 61,806,287 probably benign Het
Tnrc6c A G 11: 117,722,741 D735G probably damaging Het
Tspan17 A T 13: 54,795,616 probably null Het
Tyw5 T C 1: 57,391,499 K175R probably damaging Het
Ube2o A C 11: 116,548,858 I162R probably null Het
Ubr1 G T 2: 120,881,039 T1458K probably benign Het
Vmn2r16 A T 5: 109,330,478 Q33L probably benign Het
Zfp799 A G 17: 32,820,578 L238P probably damaging Het
Other mutations in Cnnm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Cnnm3 APN 1 36512875 missense probably benign 0.12
IGL02679:Cnnm3 APN 1 36520158 missense probably benign 0.01
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
R8288:Cnnm3 UTSW 1 36511993 missense possibly damaging 0.93
X0064:Cnnm3 UTSW 1 36512980 missense probably damaging 1.00
Z1177:Cnnm3 UTSW 1 36513033 missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- TCTCCTGGTAAGGCGTGTTC -3'
(R):5'- TATGTCTGGATCACTCTCAGGC -3'

Sequencing Primer
(F):5'- AAGGCGTGTTCTGGGAAC -3'
(R):5'- GTTAACCACGGTTACCTGCAGAATG -3'
Posted On2018-05-04