Incidental Mutation 'R8222:Cnnm4'
ID 636740
Institutional Source Beutler Lab
Gene Symbol Cnnm4
Ensembl Gene ENSMUSG00000037408
Gene Name cyclin M4
Synonyms Acdp4, 5430430O18Rik
MMRRC Submission 067640-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R8222 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 36510701-36547845 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36545617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 749 (D749G)
Ref Sequence ENSEMBL: ENSMUSP00000121317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000153128]
AlphaFold Q69ZF7
Predicted Effect probably benign
Transcript: ENSMUST00000153128
AA Change: D749G

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000121317
Gene: ENSMUSG00000037408
AA Change: D749G

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
Meta Mutation Damage Score 0.0834 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 100% (56/56)
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 containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mutants exhibit hypomagnesemia and defective amelogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 C T 19: 40,562,296 (GRCm39) V243I probably benign Het
Ankrd11 A T 8: 123,622,347 (GRCm39) S481T probably damaging Het
Atg2b A G 12: 105,618,475 (GRCm39) I859T possibly damaging Het
B4galt3 G A 1: 171,100,253 (GRCm39) R141Q possibly damaging Het
Bace1 T C 9: 45,768,491 (GRCm39) V262A probably damaging Het
BC106179 A T 16: 23,043,055 (GRCm39) I47N noncoding transcript Het
Brpf1 C T 6: 113,286,999 (GRCm39) P76S probably benign Het
Cdk1 A G 10: 69,176,426 (GRCm39) V227A probably benign Het
Ceacam20 T C 7: 19,705,618 (GRCm39) V203A probably benign Het
Cfap251 T A 5: 123,440,486 (GRCm39) Y1091N probably damaging Het
Cma2 T C 14: 56,210,727 (GRCm39) V194A probably benign Het
Cyp11b2 T C 15: 74,728,059 (GRCm39) T8A probably benign Het
Dlk2 A G 17: 46,613,384 (GRCm39) H170R probably benign Het
Esyt1 C T 10: 128,347,647 (GRCm39) R987Q possibly damaging Het
Ganc T C 2: 120,276,933 (GRCm39) I665T probably damaging Het
Gas6 T C 8: 13,520,276 (GRCm39) T471A probably benign Het
Grik2 A G 10: 49,449,744 (GRCm39) F153L probably benign Het
Heatr5b A G 17: 79,109,130 (GRCm39) V1043A possibly damaging Het
Ipo5 A G 14: 121,157,414 (GRCm39) D84G probably benign Het
Irak4 T A 15: 94,459,110 (GRCm39) probably null Het
Lrp4 T A 2: 91,305,086 (GRCm39) C238S probably damaging Het
Mau2 A T 8: 70,485,827 (GRCm39) probably null Het
Mdn1 T C 4: 32,707,477 (GRCm39) F1589L probably benign Het
Mlxip T G 5: 123,585,596 (GRCm39) S662A probably benign Het
Mn1 A T 5: 111,566,546 (GRCm39) N172I probably damaging Het
Mup2 A C 4: 60,138,454 (GRCm39) D79E probably benign Het
Nab2 C A 10: 127,498,645 (GRCm39) V475L probably benign Het
Nlrp3 A G 11: 59,439,614 (GRCm39) E397G probably damaging Het
Odf2l A G 3: 144,833,799 (GRCm39) E153G probably damaging Het
Or13p10 T C 4: 118,523,113 (GRCm39) L133P probably damaging Het
Or51f5 G T 7: 102,424,099 (GRCm39) D123Y probably damaging Het
Or5d36 T A 2: 87,901,381 (GRCm39) Y115F probably benign Het
Or5l13 T C 2: 87,779,788 (GRCm39) N263S probably benign Het
Pkdrej T A 15: 85,701,640 (GRCm39) H1432L probably benign Het
Plec C T 15: 76,063,374 (GRCm39) R2232H possibly damaging Het
Polk T C 13: 96,632,023 (GRCm39) M317V possibly damaging Het
Ppp4r3a A G 12: 101,008,164 (GRCm39) S758P probably benign Het
Pramel26 A T 4: 143,536,893 (GRCm39) D479E possibly damaging Het
Prdm9 A G 17: 15,765,035 (GRCm39) S582P possibly damaging Het
R3hcc1l T A 19: 42,564,616 (GRCm39) L643H probably damaging Het
Rassf8 G A 6: 145,765,783 (GRCm39) V38M unknown Het
Reln G A 5: 22,136,475 (GRCm39) Q2518* probably null Het
Sel1l3 A G 5: 53,345,296 (GRCm39) probably null Het
Serpina3m A T 12: 104,358,960 (GRCm39) D324V possibly damaging Het
Slc12a6 T A 2: 112,169,870 (GRCm39) probably null Het
Slc25a3 A G 10: 90,954,053 (GRCm39) W219R probably damaging Het
Sort1 T A 3: 108,241,951 (GRCm39) V299E probably benign Het
Stx6 A G 1: 155,073,889 (GRCm39) D233G possibly damaging Het
Tefm A G 11: 80,031,230 (GRCm39) V2A Het
Tfdp2 T C 9: 96,192,666 (GRCm39) S190P possibly damaging Het
Tmprss7 A T 16: 45,478,461 (GRCm39) I755N probably damaging Het
Trpm8 A G 1: 88,253,390 (GRCm39) probably null Het
Ube2q2l A G 6: 136,377,882 (GRCm39) I316T probably damaging Het
Ugt2a2 A G 5: 87,608,369 (GRCm39) L490P probably damaging Het
Utp20 A G 10: 88,614,234 (GRCm39) L1240P probably damaging Het
Vmn1r159 G T 7: 22,542,608 (GRCm39) Y141* probably null Het
Vmn2r56 T A 7: 12,444,960 (GRCm39) Y431F probably benign Het
Other mutations in Cnnm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Cnnm4 APN 1 36,537,115 (GRCm39) missense possibly damaging 0.95
IGL01534:Cnnm4 APN 1 36,538,596 (GRCm39) missense probably benign
IGL02201:Cnnm4 APN 1 36,511,831 (GRCm39) missense probably damaging 1.00
IGL03090:Cnnm4 APN 1 36,510,952 (GRCm39) missense probably benign 0.00
IGL03173:Cnnm4 APN 1 36,512,173 (GRCm39) splice site probably benign
R0372:Cnnm4 UTSW 1 36,537,091 (GRCm39) missense probably damaging 1.00
R1659:Cnnm4 UTSW 1 36,511,246 (GRCm39) missense probably benign 0.00
R2239:Cnnm4 UTSW 1 36,544,759 (GRCm39) missense probably benign 0.00
R2986:Cnnm4 UTSW 1 36,511,453 (GRCm39) missense possibly damaging 0.92
R4195:Cnnm4 UTSW 1 36,538,589 (GRCm39) missense probably benign 0.06
R4890:Cnnm4 UTSW 1 36,511,345 (GRCm39) missense probably benign 0.35
R6109:Cnnm4 UTSW 1 36,537,560 (GRCm39) missense probably damaging 1.00
R6302:Cnnm4 UTSW 1 36,539,036 (GRCm39) missense probably benign
R7773:Cnnm4 UTSW 1 36,538,603 (GRCm39) missense probably benign
R7836:Cnnm4 UTSW 1 36,511,019 (GRCm39) missense probably benign
R8041:Cnnm4 UTSW 1 36,511,174 (GRCm39) missense probably benign 0.01
R9098:Cnnm4 UTSW 1 36,511,170 (GRCm39) missense probably benign 0.01
R9231:Cnnm4 UTSW 1 36,511,258 (GRCm39) missense probably benign 0.10
R9615:Cnnm4 UTSW 1 36,511,893 (GRCm39) missense probably damaging 0.98
X0011:Cnnm4 UTSW 1 36,511,987 (GRCm39) missense probably damaging 1.00
Z1176:Cnnm4 UTSW 1 36,544,832 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- TTTTGGAAGACCCCACCTGG -3'
(R):5'- CTCAGTCATGCAGGATATCTACC -3'

Sequencing Primer
(F):5'- GGCCAGTTCTAGCTGAGTC -3'
(R):5'- GGATATCTACCTGCACCCCTTCTAG -3'
Posted On 2020-07-13