Incidental Mutation 'R8883:Hmces'
ID 677104
Institutional Source Beutler Lab
Gene Symbol Hmces
Ensembl Gene ENSMUSG00000030060
Gene Name 5-hydroxymethylcytosine (hmC) binding, ES cell specific
Synonyms Srap1, 8430410A17Rik
MMRRC Submission 068689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R8883 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 87890917-87913611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87910396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 269 (A269T)
Ref Sequence ENSEMBL: ENSMUSP00000032141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032141] [ENSMUST00000113606]
AlphaFold Q8R1M0
Predicted Effect probably benign
Transcript: ENSMUST00000032141
AA Change: A269T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032141
Gene: ENSMUSG00000030060
AA Change: A269T

DomainStartEndE-ValueType
Pfam:SRAP 1 262 4.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113606
AA Change: A269T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109236
Gene: ENSMUSG00000030060
AA Change: A269T

DomainStartEndE-ValueType
Pfam:DUF159 1 263 9.4e-57 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,283,168 (GRCm39) S3197P probably benign Het
Arih2 A G 9: 108,486,992 (GRCm39) S315P probably damaging Het
Atp1b3 A T 9: 96,246,122 (GRCm39) L29Q probably damaging Het
Bsn G A 9: 107,990,227 (GRCm39) P1842S probably damaging Het
Ccnb1ip1 G C 14: 51,027,359 (GRCm39) P248A probably benign Het
Cep76 T C 18: 67,766,540 (GRCm39) Q262R probably benign Het
Cox10 T C 11: 63,884,775 (GRCm39) E210G probably damaging Het
Dcaf1 T G 9: 106,724,839 (GRCm39) probably benign Het
Dgki A T 6: 36,993,608 (GRCm39) D584E probably damaging Het
Evpl T C 11: 116,121,243 (GRCm39) E428G probably damaging Het
Fbh1 A G 2: 11,753,922 (GRCm39) F807L probably benign Het
Fbxo11 A G 17: 88,305,044 (GRCm39) V533A Het
Fermt3 G T 19: 6,980,600 (GRCm39) D322E probably damaging Het
Fsip2 G T 2: 82,809,524 (GRCm39) V1948L possibly damaging Het
Gata4 T C 14: 63,442,204 (GRCm39) D206G probably benign Het
Gjd3 A G 11: 102,691,769 (GRCm39) V78A probably damaging Het
Gnl1 A G 17: 36,293,490 (GRCm39) N225S probably damaging Het
Kalrn A T 16: 33,814,025 (GRCm39) N2434K probably damaging Het
Kif1b A T 4: 149,361,342 (GRCm39) S49T probably benign Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lap3 C A 5: 45,669,272 (GRCm39) H474N probably benign Het
Ldlrad1 A G 4: 107,073,412 (GRCm39) Y149C probably damaging Het
Lsm8 T C 6: 18,851,747 (GRCm39) V62A probably benign Het
Map3k14 T G 11: 103,130,278 (GRCm39) Q213P probably benign Het
Mboat2 T G 12: 25,009,033 (GRCm39) H478Q Het
Mepce C A 5: 137,784,779 (GRCm39) probably benign Het
Mical1 G A 10: 41,355,636 (GRCm39) R233H Het
Muc2 A G 7: 141,287,469 (GRCm39) H216R probably damaging Het
Ntmt1 G A 2: 30,712,466 (GRCm39) A170T probably benign Het
Or2ag15 A G 7: 106,340,274 (GRCm39) I289T possibly damaging Het
Or2d3 A C 7: 106,490,536 (GRCm39) M260R probably damaging Het
Or5w17 T A 2: 87,583,838 (GRCm39) L166F probably damaging Het
Or8g19 A G 9: 39,056,083 (GRCm39) H229R probably benign Het
Pebp4 G T 14: 70,085,098 (GRCm39) C52F probably damaging Het
Pigm T A 1: 172,205,085 (GRCm39) Y274N probably damaging Het
Pik3r6 T C 11: 68,424,468 (GRCm39) S358P probably benign Het
Plekhd1 T C 12: 80,767,368 (GRCm39) I252T probably benign Het
Prss3b G T 6: 41,009,305 (GRCm39) Y176* probably null Het
Racgap1 A G 15: 99,526,540 (GRCm39) V341A probably benign Het
Rprd1a T C 18: 24,640,260 (GRCm39) D172G possibly damaging Het
Spg11 T C 2: 121,943,561 (GRCm39) D197G probably damaging Het
Spmap2 T C 10: 79,412,474 (GRCm39) D339G probably benign Het
Spta1 A T 1: 174,021,145 (GRCm39) K574N possibly damaging Het
Srrd A T 5: 112,487,790 (GRCm39) F130L possibly damaging Het
Stim1 A T 7: 102,080,257 (GRCm39) H547L unknown Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Tap1 T C 17: 34,406,867 (GRCm39) V5A unknown Het
Tent5c C A 3: 100,379,707 (GRCm39) A350S probably benign Het
Usp45 G A 4: 21,825,006 (GRCm39) G586D probably damaging Het
Vps13c G T 9: 67,855,479 (GRCm39) A2515S probably benign Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfyve28 T C 5: 34,375,211 (GRCm39) probably null Het
Other mutations in Hmces
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02272:Hmces APN 6 87,894,837 (GRCm39) splice site probably null
IGL02330:Hmces APN 6 87,891,517 (GRCm39) missense probably damaging 0.97
IGL02803:Hmces APN 6 87,902,711 (GRCm39) missense probably damaging 0.96
IGL03222:Hmces APN 6 87,902,674 (GRCm39) missense probably damaging 0.96
R1196:Hmces UTSW 6 87,913,164 (GRCm39) missense probably benign
R1470:Hmces UTSW 6 87,913,121 (GRCm39) missense probably benign 0.06
R1470:Hmces UTSW 6 87,913,121 (GRCm39) missense probably benign 0.06
R1705:Hmces UTSW 6 87,910,283 (GRCm39) missense probably damaging 0.99
R1711:Hmces UTSW 6 87,898,574 (GRCm39) nonsense probably null
R2571:Hmces UTSW 6 87,913,202 (GRCm39) missense possibly damaging 0.62
R3014:Hmces UTSW 6 87,894,823 (GRCm39) missense probably benign 0.40
R5150:Hmces UTSW 6 87,910,217 (GRCm39) splice site probably null
R9457:Hmces UTSW 6 87,910,256 (GRCm39) missense possibly damaging 0.85
X0013:Hmces UTSW 6 87,913,102 (GRCm39) missense probably benign 0.12
Z1177:Hmces UTSW 6 87,913,112 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- CATCTGACCCCTGGCCAG -3'
(R):5'- GGGAGCTTAAAGTGAATGAAAATGCT -3'

Sequencing Primer
(F):5'- GGATGCCTGCCATACTAGATG -3'
(R):5'- TATTGGGCAGCTCACAACTG -3'
Posted On 2021-08-02