Incidental Mutation 'IGL00648:Cmah'
ID9744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmah
Ensembl Gene ENSMUSG00000016756
Gene Namecytidine monophospho-N-acetylneuraminic acid hydroxylase
SynonymsCMP-NeuAc hydroxylase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL00648
Quality Score
Status
Chromosome13
Chromosomal Location24327404-24477377 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 24460276 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 459 (K459*)
Ref Sequence ENSEMBL: ENSMUSP00000153652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050859] [ENSMUST00000110391] [ENSMUST00000167746] [ENSMUST00000224657] [ENSMUST00000224819] [ENSMUST00000224953]
Predicted Effect probably null
Transcript: ENSMUST00000050859
AA Change: K459*
SMART Domains Protein: ENSMUSP00000061045
Gene: ENSMUSG00000016756
AA Change: K459*

DomainStartEndE-ValueType
Pfam:Rieske 14 107 6.2e-9 PFAM
Pfam:Lactamase_B_3 138 283 9.8e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110391
AA Change: K459*
SMART Domains Protein: ENSMUSP00000106021
Gene: ENSMUSG00000016756
AA Change: K459*

DomainStartEndE-ValueType
Pfam:Rieske 15 107 1.5e-9 PFAM
Pfam:Lactamase_B_3 138 266 2.5e-12 PFAM
Pfam:Lactamase_B_2 154 351 1.3e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000167746
AA Change: K459*
SMART Domains Protein: ENSMUSP00000129007
Gene: ENSMUSG00000016756
AA Change: K459*

DomainStartEndE-ValueType
Pfam:Rieske 14 107 6.2e-9 PFAM
Pfam:Lactamase_B_3 138 283 9.8e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000224657
AA Change: K459*
Predicted Effect probably null
Transcript: ENSMUST00000224819
AA Change: K314*
Predicted Effect probably null
Transcript: ENSMUST00000224953
AA Change: K459*
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice with homozygous mutation of Cmah show subtle incidence of lethality, with slightly abnormal B and T cell physiolgy, including cytokine production in response to stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cage1 G T 13: 38,022,993 S398* probably null Het
Calr T A 8: 84,842,702 probably benign Het
Edem1 T A 6: 108,851,207 probably null Het
Elp4 A T 2: 105,842,366 probably benign Het
Fam3b C T 16: 97,478,399 G110E probably damaging Het
Fmnl3 G A 15: 99,322,670 T577I probably damaging Het
Nbea A G 3: 56,009,260 S860P probably damaging Het
Nlrp1a T C 11: 71,092,957 T1082A probably benign Het
Pbrm1 A T 14: 31,052,283 I469F probably damaging Het
Ptprq G A 10: 107,646,716 L999F probably benign Het
Taar6 C T 10: 23,985,508 V47M probably benign Het
Tom1l2 T C 11: 60,261,116 Y155C possibly damaging Het
Other mutations in Cmah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Cmah APN 13 24464255 missense possibly damaging 0.59
IGL01339:Cmah APN 13 24430549 missense probably damaging 1.00
IGL01373:Cmah APN 13 24430549 missense probably damaging 1.00
R0095:Cmah UTSW 13 24436685 missense probably benign 0.01
R0462:Cmah UTSW 13 24436741 missense possibly damaging 0.58
R0718:Cmah UTSW 13 24417210 splice site probably null
R1028:Cmah UTSW 13 24435662 missense probably damaging 1.00
R1474:Cmah UTSW 13 24439197 missense probably damaging 1.00
R1535:Cmah UTSW 13 24439220 missense probably damaging 0.99
R1773:Cmah UTSW 13 24417299 missense probably benign
R2116:Cmah UTSW 13 24428897 missense probably benign 0.01
R4208:Cmah UTSW 13 24417427 splice site probably null
R4868:Cmah UTSW 13 24464264 missense probably damaging 1.00
R5206:Cmah UTSW 13 24464284 missense probably damaging 1.00
R5792:Cmah UTSW 13 24456915 missense probably benign 0.14
R6246:Cmah UTSW 13 24466790 missense probably damaging 1.00
R6750:Cmah UTSW 13 24464252 missense probably damaging 1.00
R7157:Cmah UTSW 13 24436629 missense probably damaging 1.00
R7359:Cmah UTSW 13 24468556 missense probably benign 0.05
R7552:Cmah UTSW 13 24456955 missense possibly damaging 0.63
R7611:Cmah UTSW 13 24435647 missense probably benign 0.03
R8041:Cmah UTSW 13 24468618 missense probably benign 0.02
X0020:Cmah UTSW 13 24428876 missense probably damaging 1.00
Z1177:Cmah UTSW 13 24435684 nonsense probably null
Posted On2012-12-06