Incidental Mutation 'IGL01347:Cnnm4'
ID75102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnnm4
Ensembl Gene ENSMUSG00000037408
Gene Namecyclin M4
Synonyms5430430O18Rik, Acdp4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.292) question?
Stock #IGL01347
Quality Score
Status
Chromosome1
Chromosomal Location36471620-36508764 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 36498034 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 480 (E480K)
Ref Sequence ENSEMBL: ENSMUSP00000121317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000153128]
Predicted Effect possibly damaging
Transcript: ENSMUST00000153128
AA Change: E480K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121317
Gene: ENSMUSG00000037408
AA Change: E480K

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
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 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,543 Y574F probably benign Het
Apc C T 18: 34,317,670 P2506S probably damaging Het
Bdp1 T A 13: 100,070,203 K610N possibly damaging Het
Bri3bp T G 5: 125,454,517 C176G probably damaging Het
Carnmt1 A G 19: 18,691,454 I248V probably benign Het
Ccdc88b A G 19: 6,845,086 L1475P probably damaging Het
Cfap100 C T 6: 90,406,121 V511M possibly damaging Het
Chchd3 T C 6: 32,803,903 N78S probably benign Het
Cyp2d34 T A 15: 82,616,777 I385F possibly damaging Het
D930048N14Rik T A 11: 51,654,788 probably benign Het
Dgkg A T 16: 22,600,590 D53E probably benign Het
Dlx3 T A 11: 95,120,533 L71H probably damaging Het
Egln2 A C 7: 27,160,292 V332G probably null Het
Entpd2 A G 2: 25,398,734 Q250R probably benign Het
Epyc A G 10: 97,674,731 D132G probably damaging Het
Fxr2 A G 11: 69,652,288 D637G probably benign Het
Gapvd1 A G 2: 34,706,696 probably null Het
Gbp11 G A 5: 105,331,328 probably benign Het
Gm17175 A T 14: 51,570,850 C162S probably damaging Het
Gm5499 C T 17: 87,078,911 noncoding transcript Het
Gm5724 A T 6: 141,754,466 Y113* probably null Het
Gps1 T C 11: 120,788,260 V378A probably benign Het
Grik1 C T 16: 87,957,593 R368Q probably benign Het
Gsap A G 5: 21,226,320 E214G probably benign Het
Hist1h2bl A G 13: 21,715,894 Y84H probably damaging Het
Jdp2 T C 12: 85,608,246 S28P probably benign Het
Kif26b T C 1: 178,870,675 F577S probably damaging Het
Kl G A 5: 150,980,665 G294D probably damaging Het
Lgsn T A 1: 31,203,960 D374E probably damaging Het
Lman1 T C 18: 65,991,610 I353V probably damaging Het
Lmna T C 3: 88,484,963 H374R probably benign Het
Lrrc57 A G 2: 120,608,805 S31P probably benign Het
Lum T A 10: 97,568,685 N147K probably damaging Het
Olfr430 T C 1: 174,070,066 I256T probably benign Het
Olfr57 A G 10: 79,035,611 T272A probably benign Het
P4ha3 C A 7: 100,305,933 L332I probably damaging Het
Pelp1 A G 11: 70,395,679 I541T probably damaging Het
Pja2 A C 17: 64,313,028 S2A probably benign Het
Rhbdl3 T C 11: 80,353,442 L325P probably damaging Het
Robo2 T C 16: 74,352,856 D28G probably damaging Het
Rpa1 A G 11: 75,307,285 Y470H probably damaging Het
Rtn3 T C 19: 7,457,280 N430S probably benign Het
Scg2 T A 1: 79,436,821 I62L probably benign Het
Scn5a T A 9: 119,562,441 K62* probably null Het
Sec23ip T C 7: 128,762,405 V469A probably benign Het
Shank1 A G 7: 44,342,120 T663A unknown Het
Stab2 G T 10: 86,901,703 probably null Het
Tmcc3 T C 10: 94,582,285 L305P probably damaging Het
Tmem145 A G 7: 25,314,835 N458S probably damaging Het
Tpr G A 1: 150,426,987 R1412Q probably damaging Het
Wdr1 A T 5: 38,545,715 F173I possibly damaging Het
Wdr17 C T 8: 54,651,345 V898I probably benign Het
Wdr64 A T 1: 175,720,333 L145F probably benign Het
Wnt10b A G 15: 98,776,945 probably benign Het
Zfyve26 A T 12: 79,252,183 probably null Het
Other mutations in Cnnm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Cnnm4 APN 1 36499515 missense probably benign
IGL02201:Cnnm4 APN 1 36472750 missense probably damaging 1.00
IGL03090:Cnnm4 APN 1 36471871 missense probably benign 0.00
IGL03173:Cnnm4 APN 1 36473092 splice site probably benign
R0372:Cnnm4 UTSW 1 36498010 missense probably damaging 1.00
R1659:Cnnm4 UTSW 1 36472165 missense probably benign 0.00
R2239:Cnnm4 UTSW 1 36505678 missense probably benign 0.00
R2986:Cnnm4 UTSW 1 36472372 missense possibly damaging 0.92
R4195:Cnnm4 UTSW 1 36499508 missense probably benign 0.06
R4890:Cnnm4 UTSW 1 36472264 missense probably benign 0.35
R6109:Cnnm4 UTSW 1 36498479 missense probably damaging 1.00
R6302:Cnnm4 UTSW 1 36499955 missense probably benign
R7773:Cnnm4 UTSW 1 36499522 missense probably benign
R7836:Cnnm4 UTSW 1 36471938 missense probably benign
R8041:Cnnm4 UTSW 1 36472093 missense probably benign 0.01
R8222:Cnnm4 UTSW 1 36506536 missense probably benign 0.04
X0011:Cnnm4 UTSW 1 36472906 missense probably damaging 1.00
Z1176:Cnnm4 UTSW 1 36505751 missense possibly damaging 0.86
Posted On2013-10-07