Incidental Mutation 'IGL01615:Cnnm1'
ID 92365
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnnm1
Ensembl Gene ENSMUSG00000025189
Gene Name cyclin M1
Synonyms Acdp1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL01615
Quality Score
Status
Chromosome 19
Chromosomal Location 43428875-43485649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43460375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 706 (S706C)
Ref Sequence ENSEMBL: ENSMUSP00000131830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165311] [ENSMUST00000223787]
AlphaFold Q0GA42
Predicted Effect probably benign
Transcript: ENSMUST00000165311
AA Change: S706C

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000131830
Gene: ENSMUSG00000025189
AA Change: S706C

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 benign
Transcript: ENSMUST00000223787
AA Change: S706C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225421
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T C 18: 80,171,692 (GRCm39) T906A probably damaging Het
Akap13 A G 7: 75,347,141 (GRCm39) S1731G probably damaging Het
Apbb2 A G 5: 66,465,044 (GRCm39) V650A probably benign Het
Appl1 A G 14: 26,681,427 (GRCm39) probably benign Het
Avpr1b T G 1: 131,527,885 (GRCm39) V136G probably damaging Het
C6 T C 15: 4,811,378 (GRCm39) F409L probably benign Het
Ccdc121rt3 A G 5: 112,503,696 (GRCm39) S3P possibly damaging Het
Cdk20 A G 13: 64,584,124 (GRCm39) probably benign Het
Cenpf T C 1: 189,385,381 (GRCm39) K2300E possibly damaging Het
Cfap57 C T 4: 118,457,993 (GRCm39) R399Q probably damaging Het
Cimap3 G T 3: 105,904,523 (GRCm39) probably null Het
Cr1l T C 1: 194,812,189 (GRCm39) I45V possibly damaging Het
D130043K22Rik A T 13: 25,083,779 (GRCm39) R1081S probably damaging Het
Ddx60 A T 8: 62,416,774 (GRCm39) H573L probably null Het
Eif5b T C 1: 38,084,787 (GRCm39) L878S probably damaging Het
Ets1 T C 9: 32,644,235 (GRCm39) probably benign Het
Evi5 A G 5: 107,912,573 (GRCm39) L696P probably damaging Het
Fbh1 C A 2: 11,762,334 (GRCm39) E12* probably null Het
Gabpb1 C A 2: 126,495,520 (GRCm39) M77I possibly damaging Het
Glul T A 1: 153,782,222 (GRCm39) N152K probably benign Het
Gm45234 T C 6: 124,723,394 (GRCm39) Y613C probably damaging Het
Gm5611 A G 9: 16,941,647 (GRCm39) noncoding transcript Het
Gpr156 T A 16: 37,808,953 (GRCm39) I225K probably damaging Het
Herc4 T C 10: 63,126,461 (GRCm39) probably benign Het
Iqsec3 C T 6: 121,387,580 (GRCm39) V720M probably damaging Het
Itgam A T 7: 127,715,939 (GRCm39) H1104L possibly damaging Het
Itgb3 T A 11: 104,534,791 (GRCm39) D549E probably damaging Het
Kctd7 A T 5: 130,176,976 (GRCm39) M76L probably damaging Het
Kdm3b T G 18: 34,962,284 (GRCm39) N1523K probably damaging Het
Map3k12 T A 15: 102,412,186 (GRCm39) E318D probably damaging Het
Mc1r T C 8: 124,134,789 (GRCm39) Y181H probably damaging Het
Mex3c G A 18: 73,706,703 (GRCm39) A197T unknown Het
Mvk A G 5: 114,584,353 (GRCm39) D71G probably benign Het
Ndufb3 T A 1: 58,634,912 (GRCm39) L88* probably null Het
Or56a4 A G 7: 104,806,667 (GRCm39) V74A probably benign Het
Or5p55 A G 7: 107,567,144 (GRCm39) D180G probably damaging Het
Pramel17 T A 4: 101,694,201 (GRCm39) R227S possibly damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Slc5a3 C T 16: 91,876,000 (GRCm39) Q686* probably null Het
Vmn2r75 T C 7: 85,797,681 (GRCm39) I711V probably benign Het
Vps13c T A 9: 67,863,063 (GRCm39) H3026Q probably benign Het
Zfp354c A G 11: 50,708,732 (GRCm39) S22P possibly damaging Het
Other mutations in Cnnm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3109: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
Posted On 2013-12-09