Incidental Mutation 'IGL01373:Cmah'
ID 278481
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmah
Ensembl Gene ENSMUSG00000016756
Gene Name cytidine monophospho-N-acetylneuraminic acid hydroxylase
Synonyms CMP-NeuAc hydroxylase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL01373
Quality Score
Status
Chromosome 13
Chromosomal Location 24511387-24661272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24614532 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000224819] [ENSMUST00000224953] [ENSMUST00000224657]
AlphaFold Q61419
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: ENSMUST00000224819
AA Change: D60V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225046
Predicted Effect probably damaging
Transcript: ENSMUST00000224953
AA Change: D159V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224657
AA Change: D159V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 119,310,642 (GRCm39) R510* probably null Het
Adamts12 A T 15: 11,310,816 (GRCm39) E1024D probably benign Het
Aff2 T A X: 68,911,335 (GRCm39) D1239E possibly damaging Het
Agps T C 2: 75,683,128 (GRCm39) V151A probably benign Het
Cables1 A T 18: 12,021,821 (GRCm39) R276S probably damaging Het
Cep72 A G 13: 74,207,578 (GRCm39) S64P probably damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,236,055 (GRCm39) E369G probably damaging Het
Dnah6 A G 6: 73,051,731 (GRCm39) L3021P probably benign Het
Esyt1 T C 10: 128,354,810 (GRCm39) E530G possibly damaging Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbxw24 C T 9: 109,452,701 (GRCm39) G98D probably damaging Het
Folh1 T C 7: 86,395,350 (GRCm39) I361V probably benign Het
Gpr19 T A 6: 134,847,284 (GRCm39) H41L possibly damaging Het
Kcnq4 A G 4: 120,574,229 (GRCm39) V143A probably damaging Het
Larp7-ps A G 4: 92,079,862 (GRCm39) V42A probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lpin3 G T 2: 160,745,649 (GRCm39) D651Y probably damaging Het
Ms4a6b A T 19: 11,506,871 (GRCm39) H220L possibly damaging Het
Mxd4 G A 5: 34,341,690 (GRCm39) probably benign Het
Nxnl2 T C 13: 51,325,488 (GRCm39) F44L probably damaging Het
Or11g2 T A 14: 50,856,069 (GRCm39) I130N probably damaging Het
Or2ag16 T C 7: 106,351,653 (GRCm39) probably benign Het
Pcdhb20 A T 18: 37,639,621 (GRCm39) R716W probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,221 (GRCm39) T116A probably benign Het
Psmb2 G T 4: 126,580,885 (GRCm39) R93L probably damaging Het
Pstpip2 T A 18: 77,922,916 (GRCm39) L42* probably null Het
Ptpn22 A T 3: 103,793,520 (GRCm39) D557V probably damaging Het
Rbbp5 G A 1: 132,420,339 (GRCm39) V191I probably benign Het
Rgs1 T A 1: 144,121,116 (GRCm39) D185V probably damaging Het
Selenoh A G 2: 84,500,938 (GRCm39) probably benign Het
Slc6a5 C T 7: 49,567,481 (GRCm39) P312S probably benign Het
Snapc1 T A 12: 74,011,454 (GRCm39) M40K probably benign Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Syne2 T C 12: 76,033,881 (GRCm39) I3710T probably damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tex9 A T 9: 72,388,036 (GRCm39) D134E possibly damaging Het
Ttc41 G T 10: 86,611,821 (GRCm39) C1063F possibly damaging Het
Usp38 C A 8: 81,716,647 (GRCm39) A496S possibly damaging Het
Vmn2r13 T A 5: 109,304,568 (GRCm39) Y621F probably damaging Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Other mutations in Cmah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Cmah APN 13 24,644,259 (GRCm39) nonsense probably null
IGL01074:Cmah APN 13 24,648,238 (GRCm39) missense possibly damaging 0.59
IGL01339:Cmah APN 13 24,614,532 (GRCm39) missense probably damaging 1.00
schnozz UTSW 13 24,641,004 (GRCm39) critical splice donor site probably null
snout UTSW 13 24,606,636 (GRCm39) missense probably damaging 1.00
R0095:Cmah UTSW 13 24,620,668 (GRCm39) missense probably benign 0.01
R0462:Cmah UTSW 13 24,620,724 (GRCm39) missense possibly damaging 0.58
R0718:Cmah UTSW 13 24,601,193 (GRCm39) splice site probably null
R1028:Cmah UTSW 13 24,619,645 (GRCm39) missense probably damaging 1.00
R1474:Cmah UTSW 13 24,623,180 (GRCm39) missense probably damaging 1.00
R1535:Cmah UTSW 13 24,623,203 (GRCm39) missense probably damaging 0.99
R1773:Cmah UTSW 13 24,601,282 (GRCm39) missense probably benign
R2116:Cmah UTSW 13 24,612,880 (GRCm39) missense probably benign 0.01
R4208:Cmah UTSW 13 24,601,410 (GRCm39) splice site probably null
R4868:Cmah UTSW 13 24,648,247 (GRCm39) missense probably damaging 1.00
R5206:Cmah UTSW 13 24,648,267 (GRCm39) missense probably damaging 1.00
R5792:Cmah UTSW 13 24,640,898 (GRCm39) missense probably benign 0.14
R6246:Cmah UTSW 13 24,650,773 (GRCm39) missense probably damaging 1.00
R6750:Cmah UTSW 13 24,648,235 (GRCm39) missense probably damaging 1.00
R7157:Cmah UTSW 13 24,620,612 (GRCm39) missense probably damaging 1.00
R7359:Cmah UTSW 13 24,652,539 (GRCm39) missense probably benign 0.05
R7552:Cmah UTSW 13 24,640,938 (GRCm39) missense possibly damaging 0.63
R7611:Cmah UTSW 13 24,619,630 (GRCm39) missense probably benign 0.03
R8041:Cmah UTSW 13 24,652,601 (GRCm39) missense probably benign 0.02
R8474:Cmah UTSW 13 24,601,350 (GRCm39) missense probably damaging 1.00
R8969:Cmah UTSW 13 24,606,636 (GRCm39) missense probably damaging 1.00
R9041:Cmah UTSW 13 24,641,004 (GRCm39) critical splice donor site probably null
R9746:Cmah UTSW 13 24,619,673 (GRCm39) critical splice donor site probably null
X0020:Cmah UTSW 13 24,612,859 (GRCm39) missense probably damaging 1.00
Z1177:Cmah UTSW 13 24,619,667 (GRCm39) nonsense probably null
Posted On 2015-04-16