Incidental Mutation 'R5792:Cmah'
ID 447042
Institutional Source Beutler Lab
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 # R5792 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 24511387-24661272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 24640898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 382 (N382K)
Ref Sequence ENSEMBL: ENSMUSP00000153652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050859] [ENSMUST00000110391] [ENSMUST00000167746] [ENSMUST00000224657] [ENSMUST00000224819] [ENSMUST00000224953]
AlphaFold Q61419
Predicted Effect probably benign
Transcript: ENSMUST00000050859
AA Change: N382K

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000061045
Gene: ENSMUSG00000016756
AA Change: N382K

DomainStartEndE-ValueType
Pfam:Rieske 14 107 6.2e-9 PFAM
Pfam:Lactamase_B_3 138 283 9.8e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110391
AA Change: N382K

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106021
Gene: ENSMUSG00000016756
AA Change: N382K

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 benign
Transcript: ENSMUST00000167746
AA Change: N382K

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000129007
Gene: ENSMUSG00000016756
AA Change: N382K

DomainStartEndE-ValueType
Pfam:Rieske 14 107 6.2e-9 PFAM
Pfam:Lactamase_B_3 138 283 9.8e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224657
AA Change: N382K

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000224819
AA Change: N237K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000224953
AA Change: N382K

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 95% (56/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,945 (GRCm39) I296F possibly damaging Het
Adamts19 C T 18: 58,970,584 (GRCm39) T56M possibly damaging Het
Axdnd1 T G 1: 156,169,459 (GRCm39) E802D probably damaging Het
Birc6 T C 17: 74,938,048 (GRCm39) V2630A probably benign Het
Capn5 A T 7: 97,780,402 (GRCm39) F323I probably benign Het
Ccn1 T C 3: 145,354,413 (GRCm39) D166G probably benign Het
Cdc25b A G 2: 131,033,679 (GRCm39) E206G probably damaging Het
Col11a1 A T 3: 113,925,242 (GRCm39) D25V probably damaging Het
Cyp2d41-ps G T 15: 82,663,421 (GRCm39) noncoding transcript Het
Cyp3a59 A G 5: 146,036,661 (GRCm39) K288E possibly damaging Het
Dclre1a A C 19: 56,518,022 (GRCm39) I1019S probably damaging Het
Fat2 G T 11: 55,153,151 (GRCm39) A3687D possibly damaging Het
Flg2 T A 3: 93,110,804 (GRCm39) V944E unknown Het
Galntl5 T C 5: 25,403,461 (GRCm39) V177A possibly damaging Het
Gm12695 T C 4: 96,616,520 (GRCm39) T438A probably benign Het
Gm14295 A T 2: 176,502,807 (GRCm39) N766Y probably benign Het
Gm15433 T A 1: 84,941,833 (GRCm39) noncoding transcript Het
Gm2431 C T 7: 141,812,069 (GRCm39) G8E unknown Het
Gm5435 T A 12: 82,542,200 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Grip1 T C 10: 119,821,385 (GRCm39) I350T probably benign Het
Guf1 T A 5: 69,717,829 (GRCm39) F196I probably damaging Het
Kcng4 G T 8: 120,353,018 (GRCm39) D297E probably damaging Het
Khdrbs2 G A 1: 32,511,773 (GRCm39) R246Q probably damaging Het
Layn T C 9: 50,979,461 (GRCm39) E148G probably damaging Het
Lrig3 T A 10: 125,845,788 (GRCm39) V739E probably damaging Het
Lyg1 A G 1: 37,986,348 (GRCm39) W129R probably benign Het
Nup210l C T 3: 90,107,164 (GRCm39) T1567I probably damaging Het
Nus1 T A 10: 52,305,352 (GRCm39) L12* probably null Het
Odad2 T C 18: 7,217,965 (GRCm39) N583S probably benign Het
Or1n2 A G 2: 36,797,113 (GRCm39) I52V probably benign Het
Or6a2 A T 7: 106,600,650 (GRCm39) V139D possibly damaging Het
Otop1 A G 5: 38,455,260 (GRCm39) N218S probably benign Het
Pcif1 T A 2: 164,727,299 (GRCm39) N90K probably damaging Het
Phf2 T C 13: 48,973,518 (GRCm39) probably null Het
Piezo2 T A 18: 63,279,927 (GRCm39) I215F probably damaging Het
Pitpnm2 G T 5: 124,268,384 (GRCm39) C553* probably null Het
Prdm1 A G 10: 44,326,224 (GRCm39) V115A probably damaging Het
Prkdc A G 16: 15,634,616 (GRCm39) D3587G probably damaging Het
Sez6l A T 5: 112,569,890 (GRCm39) Y883* probably null Het
Sh3rf2 A C 18: 42,244,203 (GRCm39) H223P probably damaging Het
Slco1a5 C T 6: 142,187,839 (GRCm39) C500Y probably damaging Het
Slf1 T A 13: 77,214,856 (GRCm39) H610L probably benign Het
Syn3 T C 10: 86,130,492 (GRCm39) *244W probably null Het
Sytl2 A T 7: 90,024,897 (GRCm39) D295V probably damaging Het
Tnfrsf1a T A 6: 125,335,040 (GRCm39) C44S probably damaging Het
Ttc6 T G 12: 57,719,990 (GRCm39) L854V possibly damaging Het
Ttn T C 2: 76,596,602 (GRCm39) I18358V probably benign Het
Vmn2r108 A G 17: 20,683,398 (GRCm39) V602A probably damaging Het
Zap70 A G 1: 36,818,090 (GRCm39) probably benign Het
Zfhx2 T C 14: 55,304,303 (GRCm39) E1227G possibly damaging Het
Znhit3 G A 11: 84,806,910 (GRCm39) probably null Het
Zpbp2 A G 11: 98,442,236 (GRCm39) 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
R5206:Cmah UTSW 13 24,648,267 (GRCm39) missense probably damaging 1.00
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'- ACTTCCTCAACTGGTTAGAGACG -3'
(R):5'- GCAAGTCAGGAGGAGAGTTCTTTATC -3'

Sequencing Primer
(F):5'- TCCTCAACTGGTTAGAGACGATAGC -3'
(R):5'- TTCAGCATCCTGCCAAG -3'
Posted On 2016-12-15