Incidental Mutation 'R7746:Acyp1'
ID 596852
Institutional Source Beutler Lab
Gene Symbol Acyp1
Ensembl Gene ENSMUSG00000008822
Gene Name acylphosphatase 1
Synonyms 1110039O14Rik
MMRRC Submission 045802-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.359) question?
Stock # R7746 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 85319172-85335212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85325832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 56 (R56S)
Ref Sequence ENSEMBL: ENSMUSP00000070555 (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: R56S
SMART Domains Protein: ENSMUSP00000070555
Gene: ENSMUSG00000008822
AA Change: R56S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,559,339 (GRCm39) Q184L probably benign Het
9030624G23Rik T G 12: 24,124,674 (GRCm39) S68R possibly damaging Het
Angpt2 C T 8: 18,742,080 (GRCm39) R492Q probably damaging Het
Ankrd36 T C 11: 5,637,451 (GRCm39) L1340P possibly damaging Het
Arhgef33 G C 17: 80,654,549 (GRCm39) probably null Het
Bach1 G A 16: 87,526,521 (GRCm39) S661N probably benign Het
Bik T C 15: 83,425,535 (GRCm39) I12T possibly damaging Het
C3 C T 17: 57,525,859 (GRCm39) R841H probably damaging Het
Cacna1s G T 1: 135,996,756 (GRCm39) R119L probably damaging Het
Cic G A 7: 24,988,207 (GRCm39) V1632M probably damaging Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,604,874 (GRCm39) probably benign Het
Dchs2 A G 3: 83,035,364 (GRCm39) H37R possibly damaging Het
Dvl1 A G 4: 155,940,696 (GRCm39) I439V possibly damaging Het
Fat1 G A 8: 45,404,670 (GRCm39) D474N probably damaging Het
Foxs1 T A 2: 152,775,028 (GRCm39) E8D probably benign Het
Garnl3 T C 2: 32,882,269 (GRCm39) D822G probably damaging Het
Gm44501 C T 17: 40,889,720 (GRCm39) A78V possibly damaging Het
Gpr19 C A 6: 134,846,355 (GRCm39) A443S probably damaging Het
Helb T C 10: 119,931,007 (GRCm39) R729G probably null Het
Lnpep G T 17: 17,758,824 (GRCm39) T840K probably benign Het
Mctp2 T C 7: 71,835,544 (GRCm39) N551S probably benign Het
Mgam T G 6: 40,645,127 (GRCm39) F635V probably damaging Het
Mlc1 G A 15: 88,848,373 (GRCm39) A262V probably damaging Het
Msantd5f9 C T 4: 73,838,099 (GRCm39) S29N possibly damaging Het
Muc5b A G 7: 141,415,976 (GRCm39) Y2974C probably benign Het
Nprl3 A T 11: 32,198,150 (GRCm39) Y208* probably null Het
Or2n1d C T 17: 38,646,285 (GRCm39) P79L probably benign Het
Or8k40 A T 2: 86,584,437 (GRCm39) L215Q probably damaging Het
Pkn2 A G 3: 142,499,868 (GRCm39) F915S probably damaging Het
Pkn3 G A 2: 29,980,596 (GRCm39) C829Y probably benign Het
Polr1a C T 6: 71,918,496 (GRCm39) P685S probably damaging Het
Ppp4r3b A G 11: 29,123,352 (GRCm39) D16G probably benign Het
Ppwd1 C T 13: 104,353,714 (GRCm39) R348H probably damaging Het
Pxdc1 T C 13: 34,823,046 (GRCm39) T98A probably benign Het
Rhbdl1 T C 17: 26,055,167 (GRCm39) I68V probably benign Het
Ror2 A G 13: 53,271,261 (GRCm39) C365R probably damaging Het
Samd4b A T 7: 28,103,328 (GRCm39) H43Q probably damaging Het
Sbf2 A T 7: 110,040,633 (GRCm39) V398D probably benign Het
Sbno2 T C 10: 79,894,708 (GRCm39) I1012M probably damaging Het
Serpinb9h A T 13: 33,581,841 (GRCm39) I133L probably damaging Het
Strn T C 17: 78,984,801 (GRCm39) T281A probably benign Het
Syt4 T A 18: 31,577,318 (GRCm39) D12V probably benign Het
Tafa1 T C 6: 96,092,737 (GRCm39) probably null Het
Tmem45a A G 16: 56,646,100 (GRCm39) L40P probably damaging Het
Tnn G A 1: 159,942,255 (GRCm39) P1081L probably damaging Het
Unc80 T C 1: 66,716,544 (GRCm39) V2888A probably benign 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
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
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'- GACAGGTACTTCATGAGACTACC -3'
(R):5'- TTCCAAATTATCTGGAGTAGCACG -3'

Sequencing Primer
(F):5'- GGTACTTCATGAGACTACCCAGGC -3'
(R):5'- GCACGTTTTTGTTAAATCACGG -3'
Posted On 2019-11-26