Incidental Mutation 'IGL01373:Cmah'
ID278481
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: 0.090) question?
Stock #IGL01373
Quality Score
Status
Chromosome13
Chromosomal Location24327404-24477377 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24430549 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 159 (D159V)
Ref Sequence ENSEMBL: ENSMUSP00000153652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050859] [ENSMUST00000110391] [ENSMUST00000167746] [ENSMUST00000224657] [ENSMUST00000224819] [ENSMUST00000224953]
Predicted Effect probably damaging
Transcript: ENSMUST00000050859
AA Change: D159V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061045
Gene: ENSMUSG00000016756
AA Change: D159V

DomainStartEndE-ValueType
Pfam:Rieske 14 107 6.2e-9 PFAM
Pfam:Lactamase_B_3 138 283 9.8e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110391
AA Change: D159V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106021
Gene: ENSMUSG00000016756
AA Change: D159V

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 noncoding transcript
Transcript: ENSMUST00000131691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144621
Predicted Effect probably damaging
Transcript: ENSMUST00000167746
AA Change: D159V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129007
Gene: ENSMUSG00000016756
AA Change: D159V

DomainStartEndE-ValueType
Pfam:Rieske 14 107 6.2e-9 PFAM
Pfam:Lactamase_B_3 138 283 9.8e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000224657
AA Change: D159V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224819
AA Change: D60V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224953
AA Change: D159V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225046
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,711,419 R510* probably null Het
Adamts12 A T 15: 11,310,730 E1024D probably benign Het
Aff2 T A X: 69,867,729 D1239E possibly damaging Het
Agps T C 2: 75,852,784 V151A probably benign Het
Cables1 A T 18: 11,888,764 R276S probably damaging Het
Cep72 A G 13: 74,059,459 S64P probably damaging Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpxm1 T C 2: 130,394,135 E369G probably damaging Het
Dnah6 A G 6: 73,074,748 L3021P probably benign Het
Esyt1 T C 10: 128,518,941 E530G possibly damaging Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbxw24 C T 9: 109,623,633 G98D probably damaging Het
Folh1 T C 7: 86,746,142 I361V probably benign Het
Gm12666 A G 4: 92,191,625 V42A probably damaging Het
Gpr19 T A 6: 134,870,321 H41L possibly damaging Het
Kcnq4 A G 4: 120,717,032 V143A probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lpin3 G T 2: 160,903,729 D651Y probably damaging Het
Ms4a6b A T 19: 11,529,507 H220L possibly damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Nxnl2 T C 13: 51,171,452 F44L probably damaging Het
Olfr698 T C 7: 106,752,446 probably benign Het
Olfr744 T A 14: 50,618,612 I130N probably damaging Het
Pcdhb20 A T 18: 37,506,568 R716W probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Plekhf1 T C 7: 38,221,797 T116A probably benign Het
Psmb2 G T 4: 126,687,092 R93L probably damaging Het
Pstpip2 T A 18: 77,835,216 L42* probably null Het
Ptpn22 A T 3: 103,886,204 D557V probably damaging Het
Rbbp5 G A 1: 132,492,601 V191I probably benign Het
Rgs1 T A 1: 144,245,378 D185V probably damaging Het
Selenoh A G 2: 84,670,594 probably benign Het
Slc6a5 C T 7: 49,917,733 P312S probably benign Het
Snapc1 T A 12: 73,964,680 M40K probably benign Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Syne2 T C 12: 75,987,107 I3710T probably damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tex9 A T 9: 72,480,754 D134E possibly damaging Het
Ttc41 G T 10: 86,775,957 C1063F possibly damaging Het
Usp38 C A 8: 80,990,018 A496S possibly damaging Het
Vmn2r13 T A 5: 109,156,702 Y621F probably damaging Het
Vmn2r67 T A 7: 85,136,626 M724L probably benign Het
Other mutations in Cmah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Cmah APN 13 24460276 nonsense probably null
IGL01074:Cmah APN 13 24464255 missense possibly damaging 0.59
IGL01339: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 On2015-04-16