Incidental Mutation 'R1705:Hmces'
ID 190017
Institutional Source Beutler Lab
Gene Symbol Hmces
Ensembl Gene ENSMUSG00000030060
Gene Name 5-hydroxymethylcytosine (hmC) binding, ES cell specific
Synonyms Srap1, 8430410A17Rik
MMRRC Submission 039738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R1705 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 87890917-87913611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87910283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 231 (V231A)
Ref Sequence ENSEMBL: ENSMUSP00000032141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032141] [ENSMUST00000113606]
AlphaFold Q8R1M0
Predicted Effect probably damaging
Transcript: ENSMUST00000032141
AA Change: V231A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032141
Gene: ENSMUSG00000030060
AA Change: V231A

DomainStartEndE-ValueType
Pfam:SRAP 1 262 4.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113606
AA Change: V231A

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109236
Gene: ENSMUSG00000030060
AA Change: V231A

DomainStartEndE-ValueType
Pfam:DUF159 1 263 9.4e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204614
Meta Mutation Damage Score 0.5133 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 90% (43/48)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Apaf1 A G 10: 90,903,133 (GRCm39) probably benign Het
C1ql2 A G 1: 120,270,271 (GRCm39) T278A probably damaging Het
Card14 A G 11: 119,229,232 (GRCm39) H714R possibly damaging Het
Catsperd T C 17: 56,940,521 (GRCm39) F69S probably damaging Het
Cep250 A G 2: 155,805,706 (GRCm39) E105G probably damaging Het
Coil A G 11: 88,864,962 (GRCm39) Y63C probably damaging Het
Cox14 A G 15: 99,625,559 (GRCm39) probably null Het
Defa24 T C 8: 22,224,617 (GRCm39) I22T probably damaging Het
F5 T C 1: 164,045,059 (GRCm39) Y2116H possibly damaging Het
Faf1 C T 4: 109,534,199 (GRCm39) probably benign Het
Hectd4 A G 5: 121,436,167 (GRCm39) S1026G probably benign Het
Hgf A T 5: 16,820,800 (GRCm39) H649L probably benign Het
Kcnh4 A G 11: 100,632,598 (GRCm39) V963A probably benign Het
Ltbp1 T C 17: 75,692,196 (GRCm39) probably null Het
Meox2 G A 12: 37,217,493 (GRCm39) probably benign Het
Mis18bp1 A C 12: 65,196,113 (GRCm39) S550R probably benign Het
Nap1l4 A T 7: 143,095,497 (GRCm39) M1K probably null Het
Nav1 G T 1: 135,512,337 (GRCm39) T241N probably damaging Het
Nbeal2 A G 9: 110,454,264 (GRCm39) W2694R probably damaging Het
Or11g2 A T 14: 50,856,579 (GRCm39) H300L probably benign Het
Or2b6 C A 13: 21,823,331 (GRCm39) D121Y probably damaging Het
Or4c52 A T 2: 89,845,855 (GRCm39) I194F possibly damaging Het
Phaf1 T C 8: 105,965,104 (GRCm39) probably benign Het
Pld1 G A 3: 28,125,426 (GRCm39) probably null Het
Podn T C 4: 107,875,055 (GRCm39) R164G probably benign Het
Qrfprl A T 6: 65,433,290 (GRCm39) H370L probably benign Het
R3hdm1 T A 1: 128,162,821 (GRCm39) L966Q probably damaging Het
Rasef A T 4: 73,662,301 (GRCm39) Y369* probably null Het
Ryr1 A T 7: 28,777,989 (GRCm39) V2176E probably damaging Het
Sec14l2 A G 11: 4,053,980 (GRCm39) L229P possibly damaging Het
Sec23a T C 12: 59,048,652 (GRCm39) S157G possibly damaging Het
Slit2 T A 5: 48,346,814 (GRCm39) W219R probably damaging Het
Smarcad1 G A 6: 65,033,400 (GRCm39) E128K probably damaging Het
Stk31 A T 6: 49,400,318 (GRCm39) N381I possibly damaging Het
Svop A G 5: 114,180,356 (GRCm39) Y264H probably damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Ush2a T A 1: 188,607,066 (GRCm39) I3987N probably damaging Het
Ush2a T A 1: 188,643,738 (GRCm39) S4367T probably benign Het
Vdr A T 15: 97,765,052 (GRCm39) V229D probably damaging Het
Ywhaz G T 15: 36,790,959 (GRCm39) T88K possibly damaging Het
Zc3h10 A T 10: 128,380,672 (GRCm39) C228* 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
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
R8883:Hmces UTSW 6 87,910,396 (GRCm39) missense probably benign 0.00
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'- CCCTTTACTGCCTGTGCCATGAAA -3'
(R):5'- AGGCAAGGGCATATTCTGAACAACG -3'

Sequencing Primer
(F):5'- TATCAGTAACTTGGGGCCAC -3'
(R):5'- GGCATATTCTGAACAACGGTAGTC -3'
Posted On 2014-05-14