Incidental Mutation 'R1204:Acyp1'
ID 100354
Institutional Source Beutler Lab
Gene Symbol Acyp1
Ensembl Gene ENSMUSG00000008822
Gene Name acylphosphatase 1
Synonyms 1110039O14Rik
MMRRC Submission 039274-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.359) question?
Stock # R1204 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 85319172-85335212 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 85326866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008966] [ENSMUST00000065913] [ENSMUST00000117138] [ENSMUST00000121930]
AlphaFold P56376
Predicted Effect probably null
Transcript: ENSMUST00000008966
SMART Domains Protein: ENSMUSP00000008966
Gene: ENSMUSG00000008822

DomainStartEndE-ValueType
Pfam:Acylphosphatase 1 98 6e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000065913
SMART Domains Protein: ENSMUSP00000070555
Gene: ENSMUSG00000008822

DomainStartEndE-ValueType
Pfam:Acylphosphatase 1 35 5.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117138
SMART Domains Protein: ENSMUSP00000113161
Gene: ENSMUSG00000008822

DomainStartEndE-ValueType
Pfam:Acylphosphatase 1 98 6e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000121930
SMART Domains Protein: ENSMUSP00000112609
Gene: ENSMUSG00000008822

DomainStartEndE-ValueType
Pfam:Acylphosphatase 64 156 4.5e-25 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,328,214 (GRCm39) I133F probably damaging Het
Ermap T C 4: 119,046,064 (GRCm39) K22R possibly damaging Het
Glce T C 9: 61,977,849 (GRCm39) T12A probably damaging Het
Hao1 G A 2: 134,364,947 (GRCm39) R227* probably null Het
Hectd4 A G 5: 121,488,548 (GRCm39) D3613G possibly damaging Het
Hspa2 A G 12: 76,451,641 (GRCm39) M112V probably benign Het
Knl1 A G 2: 118,901,670 (GRCm39) I1124V probably benign Het
Lrch3 T C 16: 32,829,584 (GRCm39) I738T probably damaging Het
Mgrn1 T G 16: 4,725,273 (GRCm39) F44V probably damaging Het
Or1af1 A G 2: 37,109,651 (GRCm39) Q50R probably benign Het
Otog G A 7: 45,909,335 (GRCm39) V602M probably benign Het
Pik3r5 T G 11: 68,385,050 (GRCm39) L652V probably benign Het
Pkdrej G A 15: 85,702,513 (GRCm39) T1141M probably damaging Het
Sema3a T C 5: 13,573,142 (GRCm39) probably benign Het
Syt3 A T 7: 44,042,091 (GRCm39) I317F probably damaging Het
Tmem214 C T 5: 31,033,134 (GRCm39) A509V probably damaging Het
Tmem25 T C 9: 44,706,529 (GRCm39) E284G probably benign Het
Trim9 T C 12: 70,393,501 (GRCm39) N148D probably damaging Het
Vmn2r107 A G 17: 20,578,031 (GRCm39) R447G probably benign Het
Zfp964 A T 8: 70,116,668 (GRCm39) I423L probably benign Het
Other mutations in Acyp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1898:Acyp1 UTSW 12 85,335,114 (GRCm39) missense probably benign 0.00
R4683:Acyp1 UTSW 12 85,325,717 (GRCm39) intron probably benign
R5336:Acyp1 UTSW 12 85,326,785 (GRCm39) missense probably damaging 1.00
R5392:Acyp1 UTSW 12 85,325,759 (GRCm39) intron probably benign
R6747:Acyp1 UTSW 12 85,325,679 (GRCm39) missense probably null
R7075:Acyp1 UTSW 12 85,325,782 (GRCm39) missense unknown
R7746:Acyp1 UTSW 12 85,325,832 (GRCm39) missense unknown
R7794:Acyp1 UTSW 12 85,335,053 (GRCm39) missense probably benign 0.02
R9210:Acyp1 UTSW 12 85,326,820 (GRCm39) missense possibly damaging 0.95
R9500:Acyp1 UTSW 12 85,325,786 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTGGTGACAGTACAACAGGGTGCG -3'
(R):5'- TCGGATCATCCAAGTGTCAGTGGAG -3'

Sequencing Primer
(F):5'- CTAGCGGTATTCTCCGTCAGG -3'
(R):5'- ATGGATGGCGGCTTCAG -3'
Posted On 2014-01-15