Incidental Mutation 'R3109:Cnnm1'
ID 263716
Institutional Source Beutler Lab
Gene Symbol Cnnm1
Ensembl Gene ENSMUSG00000025189
Gene Name cyclin M1
Synonyms Acdp1
MMRRC Submission 040583-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R3109 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 43428875-43485649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43430000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 373 (C373R)
Ref Sequence ENSEMBL: ENSMUSP00000153472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165311] [ENSMUST00000223787]
AlphaFold Q0GA42
Predicted Effect possibly damaging
Transcript: ENSMUST00000165311
AA Change: C373R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131830
Gene: ENSMUSG00000025189
AA Change: C373R

DomainStartEndE-ValueType
low complexity region 25 32 N/A INTRINSIC
low complexity region 78 95 N/A INTRINSIC
low complexity region 112 120 N/A INTRINSIC
low complexity region 165 183 N/A INTRINSIC
low complexity region 193 202 N/A INTRINSIC
Pfam:DUF21 224 414 1.8e-27 PFAM
Blast:CBS 438 489 2e-12 BLAST
CBS 505 561 5.02e0 SMART
Blast:cNMP 634 802 2e-44 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000223787
AA Change: C373R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225283
Meta Mutation Damage Score 0.4180 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
Adamts20 T C 15: 94,243,785 (GRCm39) probably benign Het
Alkbh3 T C 2: 93,835,108 (GRCm39) E80G probably damaging Het
Amfr T C 8: 94,726,934 (GRCm39) Y93C probably damaging Het
Arid2 T C 15: 96,254,627 (GRCm39) Y158H probably damaging Het
Camk1g T C 1: 193,037,301 (GRCm39) Y133C probably damaging Het
Cnot1 A G 8: 96,462,377 (GRCm39) V1691A probably damaging Het
Cubn T C 2: 13,367,158 (GRCm39) S1571G possibly damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dennd1b G A 1: 138,969,654 (GRCm39) probably benign Het
Dmrt2 C A 19: 25,655,055 (GRCm39) T218N probably benign Het
Drd4 T A 7: 140,872,195 (GRCm39) V82E possibly damaging Het
Fat1 G A 8: 45,498,210 (GRCm39) probably null Het
Fyn G C 10: 39,427,451 (GRCm39) D445H probably damaging Het
Igfn1 T C 1: 135,925,586 (GRCm39) D56G probably benign Het
Igkv11-125 T C 6: 67,890,855 (GRCm39) F58L possibly damaging Het
Klhdc4 A C 8: 122,548,073 (GRCm39) H72Q probably damaging Het
Kmt2c A G 5: 25,480,733 (GRCm39) Y1459H probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Muc5b C T 7: 141,412,496 (GRCm39) T1814M unknown Het
Ntrk3 C T 7: 78,110,263 (GRCm39) V324M probably benign Het
Or52s1b T A 7: 102,822,293 (GRCm39) M184L probably damaging Het
Per2 A T 1: 91,373,297 (GRCm39) C164S probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Rbl2 T A 8: 91,828,863 (GRCm39) I588N probably benign Het
Rslcan18 C T 13: 67,246,671 (GRCm39) E314K possibly damaging Het
Ubr3 A T 2: 69,819,184 (GRCm39) T1325S probably damaging Het
Unc45a A G 7: 79,981,294 (GRCm39) probably benign Het
Vmn1r175 A G 7: 23,508,393 (GRCm39) V78A probably benign Het
Other mutations in Cnnm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Cnnm1 APN 19 43,460,375 (GRCm39) missense probably benign 0.10
IGL02370:Cnnm1 APN 19 43,460,389 (GRCm39) critical splice donor site probably null
R0329:Cnnm1 UTSW 19 43,430,349 (GRCm39) missense probably damaging 1.00
R0400:Cnnm1 UTSW 19 43,456,803 (GRCm39) missense probably damaging 1.00
R1417:Cnnm1 UTSW 19 43,458,162 (GRCm39) missense probably benign 0.05
R1478:Cnnm1 UTSW 19 43,460,295 (GRCm39) missense probably damaging 1.00
R1743:Cnnm1 UTSW 19 43,460,352 (GRCm39) missense possibly damaging 0.93
R2290:Cnnm1 UTSW 19 43,479,941 (GRCm39) missense probably benign
R2509:Cnnm1 UTSW 19 43,430,325 (GRCm39) missense probably damaging 1.00
R2910:Cnnm1 UTSW 19 43,458,086 (GRCm39) missense possibly damaging 0.58
R3107:Cnnm1 UTSW 19 43,430,000 (GRCm39) missense probably damaging 0.97
R3922:Cnnm1 UTSW 19 43,428,884 (GRCm39) start codon destroyed probably null
R3923:Cnnm1 UTSW 19 43,428,884 (GRCm39) start codon destroyed probably null
R4804:Cnnm1 UTSW 19 43,480,014 (GRCm39) missense probably benign 0.02
R5199:Cnnm1 UTSW 19 43,483,425 (GRCm39) missense possibly damaging 0.84
R5347:Cnnm1 UTSW 19 43,430,301 (GRCm39) missense probably benign 0.42
R5595:Cnnm1 UTSW 19 43,453,596 (GRCm39) missense possibly damaging 0.85
R5964:Cnnm1 UTSW 19 43,458,162 (GRCm39) missense probably benign 0.42
R5969:Cnnm1 UTSW 19 43,479,911 (GRCm39) missense probably damaging 1.00
R6383:Cnnm1 UTSW 19 43,453,705 (GRCm39) critical splice donor site probably null
R7072:Cnnm1 UTSW 19 43,429,296 (GRCm39) missense probably benign
R7092:Cnnm1 UTSW 19 43,430,387 (GRCm39) missense probably damaging 1.00
R7126:Cnnm1 UTSW 19 43,473,292 (GRCm39) missense probably damaging 1.00
R7432:Cnnm1 UTSW 19 43,456,710 (GRCm39) missense probably benign 0.09
R7445:Cnnm1 UTSW 19 43,429,260 (GRCm39) missense possibly damaging 0.95
R8728:Cnnm1 UTSW 19 43,473,365 (GRCm39) missense probably benign 0.00
R9108:Cnnm1 UTSW 19 43,464,649 (GRCm39) missense possibly damaging 0.77
R9114:Cnnm1 UTSW 19 43,429,395 (GRCm39) missense possibly damaging 0.51
R9131:Cnnm1 UTSW 19 43,429,839 (GRCm39) missense probably benign
R9232:Cnnm1 UTSW 19 43,480,325 (GRCm39) missense probably benign 0.12
R9357:Cnnm1 UTSW 19 43,429,827 (GRCm39) missense probably damaging 0.96
R9690:Cnnm1 UTSW 19 43,460,345 (GRCm39) missense probably benign 0.07
R9711:Cnnm1 UTSW 19 43,483,469 (GRCm39) missense possibly damaging 0.53
R9792:Cnnm1 UTSW 19 43,482,252 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGTTACGGGTGCTGCGGAA -3'
(R):5'- CATGAAGCAGTCCCCTAGAG -3'

Sequencing Primer
(F):5'- GGACCCATCTGCTCTGCAC -3'
(R):5'- GGGTCAGCACCTCCTCTAC -3'
Posted On 2015-02-05