Incidental Mutation 'IGL03222:Hmces'
ID 413680
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
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL03222
Quality Score
Status
Chromosome 6
Chromosomal Location 87913935-87936629 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87925692 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 172 (R172G)
Ref Sequence ENSEMBL: ENSMUSP00000032141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032141] [ENSMUST00000113606] [ENSMUST00000204232]
AlphaFold Q8R1M0
Predicted Effect probably damaging
Transcript: ENSMUST00000032141
AA Change: R172G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032141
Gene: ENSMUSG00000030060
AA Change: R172G

DomainStartEndE-ValueType
Pfam:SRAP 1 262 4.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113606
AA Change: R172G

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109236
Gene: ENSMUSG00000030060
AA Change: R172G

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik A G X: 127,395,470 D344G probably benign Het
Aqr A T 2: 114,121,256 L877Q probably damaging Het
Ctr9 T C 7: 111,043,050 Y328H probably benign Het
Ebf2 A G 14: 67,411,992 probably null Het
Ebpl A G 14: 61,342,233 probably benign Het
Efcab5 A T 11: 77,137,367 D515E probably benign Het
Gon4l A G 3: 88,895,643 N1187S possibly damaging Het
Ighv14-2 T C 12: 113,994,494 D109G possibly damaging Het
Kcnn1 C T 8: 70,848,199 R423H probably damaging Het
Muc13 T C 16: 33,798,965 S28P unknown Het
Olfr495 A T 7: 108,395,186 D22V possibly damaging Het
Olfr862 G T 9: 19,884,199 Y35* probably null Het
Polg T C 7: 79,454,656 T824A probably damaging Het
Rapgef2 A T 3: 79,087,995 V782D probably damaging Het
Rin2 T A 2: 145,860,195 C270* probably null Het
Sdk2 C A 11: 113,838,431 V1107L probably benign Het
Sema5a T A 15: 32,628,158 V539E probably benign Het
Tiam2 T C 17: 3,438,708 S764P probably damaging Het
Tnfrsf11a A G 1: 105,821,490 Y211C probably damaging Het
Ttn T C 2: 76,755,739 T21883A probably damaging Het
Xkr5 T C 8: 18,937,299 T117A probably damaging Het
Xkr9 T A 1: 13,701,281 Y340* probably null 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
IGL02803:Hmces APN 6 87925729 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 2016-08-02