Incidental Mutation 'IGL02803:Hmces'
ID 360303
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hmces
Ensembl Gene ENSMUSG00000030060
Gene Name 5-hydroxymethylcytosine (hmC) binding, ES cell specific
Synonyms 8430410A17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # IGL02803
Quality Score
Status
Chromosome 6
Chromosomal Location 87913935-87936629 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87925729 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 184 (E184G)
Ref Sequence ENSEMBL: ENSMUSP00000109236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032141] [ENSMUST00000113606] [ENSMUST00000204232]
AlphaFold Q8R1M0
Predicted Effect possibly damaging
Transcript: ENSMUST00000032141
AA Change: E184G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032141
Gene: ENSMUSG00000030060
AA Change: E184G

DomainStartEndE-ValueType
Pfam:SRAP 1 262 4.9e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113606
AA Change: E184G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109236
Gene: ENSMUSG00000030060
AA Change: E184G

DomainStartEndE-ValueType
Pfam:DUF159 1 263 9.4e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124551
Predicted Effect probably benign
Transcript: ENSMUST00000204232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204614
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout leads to changes in DNA methylation, resulting in an altered embryonic gene expression profile and embryonic sub-lethality (lower embryonic survival). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo C T 12: 37,252,481 L106F probably benign Het
Appl1 A G 14: 26,951,516 I208T possibly damaging Het
Arap2 G T 5: 62,749,109 A189D probably benign Het
Arhgef12 T C 9: 42,972,028 K1402E possibly damaging Het
C7 A C 15: 5,049,560 F89V probably damaging Het
Camsap2 G A 1: 136,281,123 T877I probably damaging Het
Cpt2 T C 4: 107,907,386 T394A probably benign Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dnah10 C A 5: 124,798,014 T2528N probably damaging Het
Entpd8 G T 2: 25,085,139 W494L probably damaging Het
Fam114a1 T A 5: 65,005,792 probably benign Het
Fat4 T C 3: 38,889,295 V779A probably damaging Het
Gckr T C 5: 31,298,204 S34P probably damaging Het
Golga4 T C 9: 118,535,460 V297A probably benign Het
Gpr65 T C 12: 98,275,210 S41P probably damaging Het
Gps1 G T 11: 120,786,823 A221S probably damaging Het
Heatr1 T A 13: 12,433,986 S1861T probably damaging Het
Itfg1 T C 8: 85,725,511 probably null Het
Mkl2 C T 16: 13,403,156 T743I possibly damaging Het
Nfe2l3 A G 6: 51,457,311 S284G possibly damaging Het
Nlrp2 C A 7: 5,328,318 A360S probably damaging Het
Nop9 A G 14: 55,750,076 H298R probably benign Het
Olfr1434 A T 19: 12,283,983 S312C possibly damaging Het
Olfr183 T A 16: 58,999,958 V91E probably benign Het
Olfr522 T C 7: 140,162,374 D192G possibly damaging Het
Osgin1 A G 8: 119,443,267 M158V probably benign Het
Patj C A 4: 98,426,064 Q374K probably damaging Het
Pck1 G T 2: 173,156,004 G289W probably damaging Het
Phkg1 T G 5: 129,866,054 I219L possibly damaging Het
Ppp1r15b G A 1: 133,133,343 A533T probably damaging Het
Ppwd1 T C 13: 104,213,684 I398V probably benign Het
Prkdc A G 16: 15,833,666 probably benign Het
Psg25 G A 7: 18,526,287 L229F possibly damaging Het
Rps6ka1 T A 4: 133,880,954 Q24L probably benign Het
Sgk3 T C 1: 9,879,048 I147T possibly damaging Het
Slc25a24 T A 3: 109,155,071 I159N probably damaging Het
Slc26a4 T C 12: 31,522,527 probably null Het
Slc35f4 T C 14: 49,304,257 I347V probably benign Het
Spag17 A T 3: 100,109,397 M2163L probably benign Het
Stab2 C T 10: 86,950,269 probably benign Het
Sult2a8 G A 7: 14,411,705 probably benign Het
Syne2 T C 12: 76,031,546 L4718P probably damaging Het
Timd4 G T 11: 46,815,694 G108W probably damaging Het
Timm9 T C 12: 71,126,374 probably benign Het
Vmn2r98 G A 17: 19,066,013 V258I probably benign Het
Zcchc9 C T 13: 91,800,881 V174I probably benign Het
Zdbf2 T C 1: 63,303,077 V205A possibly damaging Het
Other mutations in Hmces
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02272:Hmces APN 6 87917855 splice site probably null
IGL02330:Hmces APN 6 87914535 missense probably damaging 0.97
IGL03222:Hmces APN 6 87925692 missense probably damaging 0.96
R1196:Hmces UTSW 6 87936182 missense probably benign
R1470:Hmces UTSW 6 87936139 missense probably benign 0.06
R1470:Hmces UTSW 6 87936139 missense probably benign 0.06
R1705:Hmces UTSW 6 87933301 missense probably damaging 0.99
R1711:Hmces UTSW 6 87921592 nonsense probably null
R2571:Hmces UTSW 6 87936220 missense possibly damaging 0.62
R3014:Hmces UTSW 6 87917841 missense probably benign 0.40
R5150:Hmces UTSW 6 87933235 splice site probably null
R8883:Hmces UTSW 6 87933414 missense probably benign 0.00
R9457:Hmces UTSW 6 87933274 missense possibly damaging 0.85
X0013:Hmces UTSW 6 87936120 missense probably benign 0.12
Z1177:Hmces UTSW 6 87936130 missense possibly damaging 0.83
Posted On 2015-12-18