Incidental Mutation 'R8041:Cmah'
ID618540
Institutional Source Beutler Lab
Gene Symbol Cmah
Ensembl Gene ENSMUSG00000016756
Gene Namecytidine monophospho-N-acetylneuraminic acid hydroxylase
SynonymsCMP-NeuAc hydroxylase
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #R8041 (G1)
Quality Score225.009
Status Not validated
Chromosome13
Chromosomal Location24327404-24477377 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24468618 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 577 (D577G)
Ref Sequence ENSEMBL: ENSMUSP00000129007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050859] [ENSMUST00000110391] [ENSMUST00000167746] [ENSMUST00000224657] [ENSMUST00000224819] [ENSMUST00000224953]
Predicted Effect probably benign
Transcript: ENSMUST00000050859
AA Change: D577G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000061045
Gene: ENSMUSG00000016756
AA Change: D577G

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: D577G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000106021
Gene: ENSMUSG00000016756
AA Change: D577G

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: D577G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000129007
Gene: ENSMUSG00000016756
AA Change: D577G

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: D577G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000224819
AA Change: D432G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000224953
AA Change: D577G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik G C 13: 63,033,107 W294C probably damaging Het
5830473C10Rik T A 5: 90,593,005 probably null Het
Afap1l1 A T 18: 61,758,683 L21Q probably damaging Het
Ago1 G A 4: 126,441,936 R661C probably damaging Het
Aoc3 T C 11: 101,332,306 V456A probably benign Het
Cacna1b A T 2: 24,657,299 F1223L probably damaging Het
Ccdc40 T C 11: 119,231,681 F33S possibly damaging Het
Ccnjl T C 11: 43,579,711 V102A probably damaging Het
Cd48 T C 1: 171,699,390 V128A probably damaging Het
Cnnm4 A G 1: 36,472,093 K134R probably benign Het
Cntnap5a T A 1: 116,259,479 Y594N probably damaging Het
Col14a1 A G 15: 55,455,230 E1375G unknown Het
Comtd1 T A 14: 21,847,917 E153V probably benign Het
Dchs1 T A 7: 105,755,188 T2716S probably benign Het
Ddx4 A T 13: 112,626,394 S143T probably benign Het
Dlg1 A G 16: 31,838,067 D593G possibly damaging Het
Dok6 A G 18: 89,560,089 I68T possibly damaging Het
Dpysl5 A G 5: 30,796,314 I563V probably benign Het
Eapp A G 12: 54,692,865 S56P probably damaging Het
Fgd5 A T 6: 92,061,856 D1157V probably damaging Het
Fmn1 T A 2: 113,364,594 L213Q unknown Het
Foxo1 T A 3: 52,345,623 Y402* probably null Het
Fyb2 C A 4: 105,000,484 F619L possibly damaging Het
Gm11639 T G 11: 104,919,479 D3147E unknown Het
Gtf2i A T 5: 134,293,745 probably null Het
Hrh1 G A 6: 114,479,917 R53H not run Het
Hydin A T 8: 110,574,994 M3786L probably benign Het
Ifi207 T C 1: 173,727,702 R805G possibly damaging Het
Igfn1 C A 1: 135,968,059 G1590* probably null Het
Jph3 A C 8: 121,789,462 I740L probably benign Het
Kbtbd7 T A 14: 79,428,704 F659I probably benign Het
Kcns2 A T 15: 34,839,145 Q218L probably benign Het
Kcnt2 A G 1: 140,609,660 N1119S probably benign Het
Krit1 A T 5: 3,807,309 H38L probably benign Het
Krt20 T A 11: 99,437,837 R87S probably damaging Het
Ly6g5c A G 17: 35,111,832 E110G probably damaging Het
Mamdc4 A G 2: 25,564,695 F1035S probably damaging Het
Mmp13 A T 9: 7,280,865 D416V probably benign Het
Nadk G T 4: 155,577,067 D17Y probably benign Het
Nrap A T 19: 56,364,336 L566* probably null Het
Olfr109 T C 17: 37,466,649 F148L probably benign Het
Olfr1271 A T 2: 90,266,144 C95* probably null Het
Olfr494 T C 7: 108,367,534 F15L probably damaging Het
Olfr632 T C 7: 103,937,581 L67P probably damaging Het
Pcdhb19 T C 18: 37,497,314 L54P possibly damaging Het
Pitpnm2 A G 5: 124,121,456 F1272S probably damaging Het
Pml C A 9: 58,234,685 R288L probably benign Het
Reep4 T C 14: 70,548,187 Y186H probably benign Het
Rpgrip1 A G 14: 52,119,245 T89A possibly damaging Het
Shc1 T C 3: 89,422,953 S175P probably damaging Het
Sipa1l3 A G 7: 29,364,220 S1156P probably damaging Het
Slc1a3 G A 15: 8,636,199 P522L probably benign Het
Slc6a17 T A 3: 107,474,428 T446S probably damaging Het
Tas1r2 A T 4: 139,659,979 N250Y possibly damaging Het
Tex15 G T 8: 33,575,846 R1768L probably damaging Het
Ttll9 G C 2: 153,003,036 Q441H possibly damaging Het
Unc5c T A 3: 141,465,784 V24E possibly damaging Het
Unc79 A G 12: 103,088,467 E888G probably benign Het
Vmn2r19 T C 6: 123,335,791 S607P possibly damaging Het
Vsig1 C T X: 140,933,126 H232Y probably benign Het
Wdfy4 A G 14: 33,154,008 probably null Het
Zbtb49 T C 5: 38,200,854 D685G possibly damaging 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
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
X0020:Cmah UTSW 13 24428876 missense probably damaging 1.00
Z1177:Cmah UTSW 13 24435684 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAGAGCAAGACTGTCCTCTG -3'
(R):5'- TTCAAGCAGCCTGTGGACTC -3'

Sequencing Primer
(F):5'- AAGACTGTCCTCTGGGGAG -3'
(R):5'- GCAGGTGAGCTCACTAGTTTATACC -3'
Posted On2020-01-23