Incidental Mutation 'R5392:Acyp1'
ID 425916
Institutional Source Beutler Lab
Gene Symbol Acyp1
Ensembl Gene ENSMUSG00000008822
Gene Name acylphosphatase 1
Synonyms 1110039O14Rik
MMRRC Submission 042964-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.431) question?
Stock # R5392 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 85319172-85335212 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 85325759 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 benign
Transcript: ENSMUST00000008966
SMART Domains Protein: ENSMUSP00000008966
Gene: ENSMUSG00000008822

DomainStartEndE-ValueType
Pfam:Acylphosphatase 1 98 6e-26 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000065913
AA Change: Q80R
SMART Domains Protein: ENSMUSP00000070555
Gene: ENSMUSG00000008822
AA Change: Q80R

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 benign
Transcript: ENSMUST00000121930
SMART Domains Protein: ENSMUSP00000112609
Gene: ENSMUSG00000008822

DomainStartEndE-ValueType
Pfam:Acylphosphatase 64 156 4.5e-25 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T C 2: 127,852,088 (GRCm39) probably null Het
Ces1b G A 8: 93,798,590 (GRCm39) R199C probably damaging Het
Col6a3 C A 1: 90,729,017 (GRCm39) R1308L probably benign Het
Cpa5 C T 6: 30,630,829 (GRCm39) Q364* probably null Het
Cyth4 T A 15: 78,491,185 (GRCm39) L88Q probably damaging Het
Dock7 A G 4: 98,896,243 (GRCm39) V59A probably damaging Het
Drd2 A G 9: 49,306,928 (GRCm39) N5D possibly damaging Het
Epsti1 T C 14: 78,224,184 (GRCm39) I272T probably benign Het
Fndc3b A T 3: 27,519,936 (GRCm39) C568* probably null Het
Frmd4a C T 2: 4,599,384 (GRCm39) A161V probably damaging Het
Gfpt1 A G 6: 87,054,139 (GRCm39) T465A probably damaging Het
Hecw1 C A 13: 14,420,347 (GRCm39) Q1025H probably damaging Het
Irak4 A T 15: 94,454,565 (GRCm39) M237L probably benign Het
Irak4 T C 15: 94,454,566 (GRCm39) M237T probably benign Het
Kdsr T A 1: 106,680,971 (GRCm39) I76F possibly damaging Het
Kif15 T C 9: 122,825,360 (GRCm39) F533S probably damaging Het
Kmt5b T C 19: 3,852,127 (GRCm39) F103L possibly damaging Het
Krtcap2 C T 3: 89,154,186 (GRCm39) L36F probably benign Het
Mroh7 A G 4: 106,568,448 (GRCm39) probably null Het
Mta1 T C 12: 113,096,856 (GRCm39) V559A probably benign Het
N4bp1 A G 8: 87,587,048 (GRCm39) probably null Het
Oas1d T C 5: 121,055,003 (GRCm39) S192P possibly damaging Het
Or1n1b T A 2: 36,780,686 (GRCm39) Y58F probably benign Het
Or6c76 A G 10: 129,612,184 (GRCm39) I149V probably benign Het
Or6d15 A G 6: 116,559,379 (GRCm39) F176S probably damaging Het
Rabgap1 T A 2: 37,359,501 (GRCm39) N21K probably damaging Het
Rad9b A T 5: 122,489,641 (GRCm39) C25S probably damaging Het
Spg7 T C 8: 123,814,102 (GRCm39) S454P probably damaging Het
Spink2 T A 5: 77,354,872 (GRCm39) H40L probably benign Het
Syne1 T A 10: 5,298,661 (GRCm39) D1082V probably damaging Het
Syt2 A G 1: 134,671,759 (GRCm39) D179G probably damaging Het
Tm7sf2 T C 19: 6,113,998 (GRCm39) D181G probably damaging Het
Vmn1r174 A G 7: 23,454,227 (GRCm39) I298V unknown Het
Vmn2r23 A T 6: 123,681,323 (GRCm39) H77L probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Vps9d1 T C 8: 123,980,752 (GRCm39) E25G probably damaging Het
Zfp119a T C 17: 56,173,328 (GRCm39) R172G probably benign Het
Zfp51 A T 17: 21,685,584 (GRCm39) Y733F possibly damaging Het
Zfp658 A C 7: 43,222,355 (GRCm39) E210A probably benign Het
Zp2 C A 7: 119,734,987 (GRCm39) E433* probably null Het
Other mutations in Acyp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1204:Acyp1 UTSW 12 85,326,866 (GRCm39) splice site probably null
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
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'- AAAGACGTTCTGACTCCGGAC -3'
(R):5'- TCCAAATTATCTGGAGTAGCACG -3'

Sequencing Primer
(F):5'- CACGTGGGTGCATCTACACATC -3'
(R):5'- TCCTTGTCTTATCACCAAGGAACAG -3'
Posted On 2016-08-04