Incidental Mutation 'R1129:Cnnm3'
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ID96446
Institutional Source Beutler Lab
Gene Symbol Cnnm3
Ensembl Gene ENSMUSG00000001138
Gene Namecyclin M3
SynonymsAcdp3
MMRRC Submission 039202-MU
Accession Numbers

Genbank: NM_053186, NM_001039551; MGI: 2151055

Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #R1129 (G1)
Quality Score190
Status Not validated
Chromosome1
Chromosomal Location36511867-36528237 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36513016 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 369 (L369P)
Ref Sequence ENSEMBL: ENSMUSP00000095383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001166] [ENSMUST00000097776] [ENSMUST00000153128]
Predicted Effect probably damaging
Transcript: ENSMUST00000001166
AA Change: L369P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001166
Gene: ENSMUSG00000001138
AA Change: L369P

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: L369P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095383
Gene: ENSMUSG00000001138
AA Change: L369P

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 probably benign
Transcript: ENSMUST00000153128
SMART Domains Protein: ENSMUSP00000121317
Gene: ENSMUSG00000037408

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:DUF21 181 355 1.1e-35 PFAM
SCOP:d1jr1a3 373 424 1e-3 SMART
Blast:CBS 379 429 9e-13 BLAST
Pfam:CBS 438 502 6.9e-4 PFAM
Blast:cNMP 572 705 2e-72 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154225
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1 G C 2: 180,172,919 probably benign Het
Bub1b A T 2: 118,615,006 D269V probably damaging Het
Ccdc73 A G 2: 104,992,190 N828S possibly damaging Het
Cdk12 T C 11: 98,245,375 S1152P unknown Het
Cxadr A G 16: 78,336,433 K360R probably benign Het
Dlg2 G A 7: 92,431,174 probably null Het
Dst T C 1: 34,199,554 V3779A probably benign Het
Fbxo16 G A 14: 65,295,532 R161K probably benign Het
Gm9726 T A 12: 93,928,526 noncoding transcript Het
Hectd4 A G 5: 121,310,599 T337A possibly damaging Het
Hist1h1t G T 13: 23,696,324 K153N possibly damaging Het
Ints1 A G 5: 139,758,471 L1510S probably benign Het
Kansl2 T C 15: 98,533,581 Y63C probably damaging Het
Lats2 T C 14: 57,700,333 E233G possibly damaging Het
Naca T C 10: 128,040,202 probably benign Het
Pprc1 G T 19: 46,063,806 A591S probably benign Het
Sbsn C T 7: 30,753,440 P627S probably benign Het
Sema6b T C 17: 56,124,347 E772G probably benign Het
Tmem33 A G 5: 67,264,460 probably null Het
Tmtc4 A G 14: 122,943,153 probably null Het
Ubqlnl A T 7: 104,149,650 H213Q probably damaging Het
Ugt1a10 T C 1: 88,055,609 M43T probably benign Het
Vmn2r68 T C 7: 85,237,504 probably null Het
Zcchc14 A G 8: 121,608,415 probably benign 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
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
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'- TACAGCGACCTCAGCAAGGGAGTG -3'
(R):5'- CAGGGTAACCACCTTCCGATCCTC -3'

Sequencing Primer
(F):5'- AGCAAGGGAGTGCTGCG -3'
(R):5'- TTCCAAAGGTCATTCGCAGG -3'
Posted On2014-01-05