Incidental Mutation 'R4868:Cmah'
ID 376354
Institutional Source Beutler Lab
Gene Symbol Cmah
Ensembl Gene ENSMUSG00000016756
Gene Name cytidine monophospho-N-acetylneuraminic acid hydroxylase
Synonyms CMP-NeuAc hydroxylase
MMRRC Submission 042478-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R4868 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 24511387-24661272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24648247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 494 (V494E)
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: V494E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061045
Gene: ENSMUSG00000016756
AA Change: V494E

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: V494E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106021
Gene: ENSMUSG00000016756
AA Change: V494E

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: V494E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129007
Gene: ENSMUSG00000016756
AA Change: V494E

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: V494E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224819
AA Change: V349E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224953
AA Change: V494E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 99% (91/92)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,436,729 (GRCm39) *299W probably null Het
4933412E24Rik G A 15: 59,887,817 (GRCm39) L208F possibly damaging Het
Abca8b G A 11: 109,865,338 (GRCm39) A373V probably benign Het
Actn3 A T 19: 4,914,482 (GRCm39) W549R probably benign Het
Adamts4 C T 1: 171,080,000 (GRCm39) probably benign Het
Adcy4 T C 14: 56,011,179 (GRCm39) I615V probably benign Het
Akap1 A G 11: 88,735,379 (GRCm39) S428P possibly damaging Het
Akap13 A T 7: 75,393,252 (GRCm39) R2476W probably damaging Het
Alx3 A G 3: 107,507,943 (GRCm39) S151G possibly damaging Het
Aoah T A 13: 21,099,151 (GRCm39) Y243* probably null Het
Asap1 A G 15: 63,966,030 (GRCm39) V1025A probably benign Het
Atp8b1 A T 18: 64,684,937 (GRCm39) I728N probably damaging Het
Baz2b C A 2: 59,755,226 (GRCm39) V1001L possibly damaging Het
Bmpr2 T A 1: 59,909,615 (GRCm39) S1030T probably benign Het
Cacna2d3 A T 14: 28,678,743 (GRCm39) probably null Het
Casp3 A T 8: 47,087,314 (GRCm39) N87I probably benign Het
Ccdc171 T A 4: 83,612,569 (GRCm39) L995Q probably damaging Het
Ccdc80 T A 16: 44,924,776 (GRCm39) Y637N probably damaging Het
Ccr4 A G 9: 114,321,901 (GRCm39) F55L probably benign Het
Cnot6l A G 5: 96,230,882 (GRCm39) Y362H probably damaging Het
Coq6 T C 12: 84,417,726 (GRCm39) V222A probably damaging Het
Ctdspl2 C A 2: 121,823,879 (GRCm39) T240N possibly damaging Het
D430041D05Rik T C 2: 104,085,754 (GRCm39) T248A possibly damaging Het
Dctn6 A T 8: 34,559,230 (GRCm39) probably benign Het
Dhx34 T C 7: 15,933,727 (GRCm39) D955G probably benign Het
Dnaaf5 A G 5: 139,155,941 (GRCm39) M541V probably benign Het
Dnah17 A T 11: 117,999,038 (GRCm39) S912T probably benign Het
Dnah2 A T 11: 69,354,474 (GRCm39) V2248E probably damaging Het
Dysf T C 6: 84,156,675 (GRCm39) W1502R probably damaging Het
Dzip1 A T 14: 119,114,626 (GRCm39) V843E probably damaging Het
Esp23 G T 17: 39,384,915 (GRCm39) T27K probably benign Het
Esp3 A T 17: 40,944,420 (GRCm39) M21L possibly damaging Het
Fam43b T A 4: 138,123,108 (GRCm39) T71S probably benign Het
Fpgs G A 2: 32,582,673 (GRCm39) R63C probably damaging Het
H2-M11 G T 17: 36,859,811 (GRCm39) W268L probably damaging Het
Inpp5b T C 4: 124,645,203 (GRCm39) S210P probably damaging Het
Itsn1 T A 16: 91,582,205 (GRCm39) S51T probably damaging Het
Kctd2 G A 11: 115,320,205 (GRCm39) V246I probably damaging Het
Krt75 C T 15: 101,476,556 (GRCm39) G403E probably damaging Het
Lamp3 T A 16: 19,520,040 (GRCm39) T48S probably benign Het
Lyzl4 C A 9: 121,412,075 (GRCm39) V114L probably damaging Het
Maml3 C A 3: 52,011,345 (GRCm39) E74* probably null Het
Map2k7 G A 8: 4,297,751 (GRCm39) probably benign Het
Mapk8ip3 A G 17: 25,120,389 (GRCm39) V883A probably benign Het
Mbtps1 C T 8: 120,235,667 (GRCm39) V1004I probably benign Het
Metap1 G T 3: 138,188,850 (GRCm39) H48Q probably damaging Het
Mical2 T A 7: 111,917,831 (GRCm39) V396E probably damaging Het
Mks1 T A 11: 87,744,549 (GRCm39) probably benign Het
Ndst1 T C 18: 60,828,548 (GRCm39) T669A probably benign Het
Obox3 T C 7: 15,361,235 (GRCm39) K10R probably damaging Het
Opn3 T C 1: 175,491,127 (GRCm39) Y302C probably damaging Het
Or4f62 T A 2: 111,986,916 (GRCm39) S207T probably damaging Het
Or6b6 C T 7: 106,570,974 (GRCm39) M192I probably benign Het
Or9g8 T G 2: 85,606,970 (GRCm39) V14G possibly damaging Het
Pdzph1 A T 17: 59,281,751 (GRCm39) V177D probably benign Het
Pex5l T A 3: 33,006,639 (GRCm39) I577F probably damaging Het
Pmpcb T A 5: 21,953,851 (GRCm39) Y366* probably null Het
Prr14l A T 5: 32,987,281 (GRCm39) M738K probably benign Het
Prx T C 7: 27,217,004 (GRCm39) S641P probably benign Het
Ptchd3 A G 11: 121,721,883 (GRCm39) Y252C possibly damaging Het
Reg3a A G 6: 78,358,883 (GRCm39) E27G probably damaging Het
Ripor2 A G 13: 24,878,124 (GRCm39) T300A possibly damaging Het
Sdf4 T A 4: 156,093,642 (GRCm39) S259T probably damaging Het
Sike1 A G 3: 102,904,730 (GRCm39) probably null Het
Sis T G 3: 72,850,881 (GRCm39) I606L probably benign Het
Slc30a9 T C 5: 67,482,026 (GRCm39) I94T probably benign Het
Slc5a4a T C 10: 76,014,065 (GRCm39) I424T probably damaging Het
Spx C T 6: 142,362,116 (GRCm39) R72* probably null Het
St7 C A 6: 17,819,265 (GRCm39) N56K probably damaging Het
Tcte2 C A 17: 13,948,270 (GRCm39) G3V probably damaging Het
Tent5b A G 4: 133,213,393 (GRCm39) probably null Het
Tgfb3 T C 12: 86,108,955 (GRCm39) D258G probably benign Het
Timeless G T 10: 128,083,230 (GRCm39) G659V probably benign Het
Tnn T C 1: 159,958,443 (GRCm39) R467G possibly damaging Het
Tor1b T C 2: 30,846,589 (GRCm39) probably null Het
Trank1 T A 9: 111,194,709 (GRCm39) L911Q probably damaging Het
Ttll2 C T 17: 7,618,998 (GRCm39) V310I probably benign Het
Ttyh3 A T 5: 140,615,221 (GRCm39) I389N probably damaging Het
Tut4 T C 4: 108,406,417 (GRCm39) probably benign Het
Ube3b T C 5: 114,536,488 (GRCm39) V216A probably benign Het
Vezf1 T A 11: 87,965,520 (GRCm39) V254E probably damaging Het
Vmn1r122 T C 7: 20,867,227 (GRCm39) E276G probably benign Het
Vmn1r167 T A 7: 23,204,161 (GRCm39) N285I probably benign Het
Vmn2r45 T A 7: 8,484,480 (GRCm39) I442F probably benign Het
Vwa8 C A 14: 79,420,522 (GRCm39) A1741E probably damaging Het
Wdr20 T A 12: 110,704,668 (GRCm39) V69E probably damaging Het
Xkr4 T G 1: 3,287,074 (GRCm39) Q372P probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GACAGGGTATTTCAATTCACTGC -3'
(R):5'- CACCCCAGTTGTAAGAACTCT -3'

Sequencing Primer
(F):5'- CAGGGTATTTCAATTCACTGCTATTC -3'
(R):5'- TCTTCATAAGGATGCTCCC -3'
Posted On 2016-03-17