Incidental Mutation 'R5206:Cmah'
ID 402040
Institutional Source Beutler Lab
Gene Symbol Cmah
Ensembl Gene ENSMUSG00000016756
Gene Name cytidine monophospho-N-acetylneuraminic acid hydroxylase
Synonyms CMP-NeuAc hydroxylase
MMRRC Submission 042781-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R5206 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 24511387-24661272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 24648267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 501 (F501V)
Ref Sequence ENSEMBL: ENSMUSP00000153652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050859] [ENSMUST00000110391] [ENSMUST00000167746] [ENSMUST00000224657] [ENSMUST00000224819] [ENSMUST00000224953]
AlphaFold Q61419
Predicted Effect probably damaging
Transcript: ENSMUST00000050859
AA Change: F501V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061045
Gene: ENSMUSG00000016756
AA Change: F501V

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: F501V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106021
Gene: ENSMUSG00000016756
AA Change: F501V

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 damaging
Transcript: ENSMUST00000167746
AA Change: F501V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129007
Gene: ENSMUSG00000016756
AA Change: F501V

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: F501V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224819
AA Change: F356V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224953
AA Change: F501V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,272 (GRCm39) E487G probably benign Het
2610021A01Rik A T 7: 41,276,009 (GRCm39) K571* probably null Het
A2m T C 6: 121,651,766 (GRCm39) V1278A probably damaging Het
Abcc2 T C 19: 43,806,589 (GRCm39) V801A probably damaging Het
Acod1 T A 14: 103,292,731 (GRCm39) D418E possibly damaging Het
Bsn G A 9: 107,982,572 (GRCm39) A3727V unknown Het
Csf2rb2 T A 15: 78,176,952 (GRCm39) I173L probably benign Het
Dnah12 T C 14: 26,491,942 (GRCm39) W1126R probably damaging Het
Dock5 G T 14: 68,000,633 (GRCm39) A1690E probably benign Het
Dop1b T C 16: 93,598,472 (GRCm39) L1879P probably damaging Het
Eif3j2 A T 18: 43,610,647 (GRCm39) D55E probably benign Het
Fam83f G A 15: 80,576,255 (GRCm39) G302D possibly damaging Het
Fus G A 7: 127,568,969 (GRCm39) G40D unknown Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Gxylt2 T C 6: 100,781,576 (GRCm39) V417A probably damaging Het
Hhipl1 G A 12: 108,278,437 (GRCm39) R255H probably damaging Het
Ints8 A T 4: 11,216,477 (GRCm39) I838N possibly damaging Het
Lama5 C A 2: 179,833,097 (GRCm39) C1579F probably damaging Het
Med13 C T 11: 86,210,705 (GRCm39) R479H probably damaging Het
Or51ag1 A T 7: 103,155,309 (GRCm39) Y281* probably null Het
Or5b113 G T 19: 13,342,429 (GRCm39) G146C possibly damaging Het
Or5k15 G T 16: 58,710,381 (GRCm39) N67K probably damaging Het
Or6e1 T A 14: 54,520,155 (GRCm39) M66L probably benign Het
Or9g3 T A 2: 85,589,967 (GRCm39) Y251F probably benign Het
Pak6 A G 2: 118,523,784 (GRCm39) E313G probably benign Het
Pigs T A 11: 78,224,549 (GRCm39) Y145N probably damaging Het
Pla2g2f T A 4: 138,479,662 (GRCm39) D165V probably benign Het
Plbd1 C T 6: 136,618,154 (GRCm39) V133M probably benign Het
Ppp1r14bl C T 1: 23,141,183 (GRCm39) G44R probably benign Het
Ryr3 T C 2: 112,675,056 (GRCm39) Y1352C probably damaging Het
Scamp1 C T 13: 94,368,615 (GRCm39) R51H probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc2a2 G A 3: 28,762,756 (GRCm39) V100M probably damaging Het
Slc38a10 C G 11: 119,995,888 (GRCm39) A1062P probably damaging Het
Snai1 T C 2: 167,380,888 (GRCm39) I127T probably benign Het
Stat4 G A 1: 52,144,395 (GRCm39) G692D probably damaging Het
Stc1 A T 14: 69,269,048 (GRCm39) D72V probably damaging Het
Tmc1 T C 19: 20,804,024 (GRCm39) N351S probably damaging Het
Trim28 A G 7: 12,759,275 (GRCm39) I130V probably benign Het
Trim39 A G 17: 36,571,382 (GRCm39) Y459H probably damaging Het
Ugt1a6b C A 1: 88,035,170 (GRCm39) Y169* probably null Het
Vasp T C 7: 18,992,780 (GRCm39) probably benign Het
Vmn2r99 G T 17: 19,598,868 (GRCm39) G184V probably benign Het
Xrcc1 C T 7: 24,266,988 (GRCm39) T358I probably damaging Het
Zfp219 A G 14: 52,247,022 (GRCm39) V35A 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
IGL01373: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
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
Predicted Primers PCR Primer
(F):5'- AGGGTATTTCAATTCACTGCTATTCT -3'
(R):5'- AACCACCCCAGTTGTAAGAACTC -3'

Sequencing Primer
(F):5'- GCCTTGCAATTTGCACA -3'
(R):5'- AGGAAGGGATCCCCACGGG -3'
Posted On 2016-07-22