Incidental Mutation 'R5336:Acyp1'
ID 423534
Institutional Source Beutler Lab
Gene Symbol Acyp1
Ensembl Gene ENSMUSG00000008822
Gene Name acylphosphatase 1
Synonyms 1110039O14Rik
MMRRC Submission 042844-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.431) question?
Stock # R5336 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 85319172-85335212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85326785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 80 (F80I)
Ref Sequence ENSEMBL: ENSMUSP00000112609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008966] [ENSMUST00000065913] [ENSMUST00000117138] [ENSMUST00000121930]
AlphaFold P56376
Predicted Effect probably damaging
Transcript: ENSMUST00000008966
AA Change: F22I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008966
Gene: ENSMUSG00000008822
AA Change: F22I

DomainStartEndE-ValueType
Pfam:Acylphosphatase 1 98 6e-26 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000065913
AA Change: F22I
SMART Domains Protein: ENSMUSP00000070555
Gene: ENSMUSG00000008822
AA Change: F22I

DomainStartEndE-ValueType
Pfam:Acylphosphatase 1 35 5.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117138
AA Change: F22I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113161
Gene: ENSMUSG00000008822
AA Change: F22I

DomainStartEndE-ValueType
Pfam:Acylphosphatase 1 98 6e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121930
AA Change: F80I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112609
Gene: ENSMUSG00000008822
AA Change: F80I

DomainStartEndE-ValueType
Pfam:Acylphosphatase 64 156 4.5e-25 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,100,495 (GRCm39) E289D probably damaging Het
Anapc5 T C 5: 122,945,400 (GRCm39) N226S probably damaging Het
Ankhd1 T A 18: 36,779,769 (GRCm39) S1704T probably damaging Het
Btnl5-ps T C 17: 34,711,371 (GRCm39) noncoding transcript Het
Cacna1h T C 17: 25,611,205 (GRCm39) H531R probably damaging Het
Chpf C A 1: 75,452,351 (GRCm39) A368S possibly damaging Het
Cntn4 T C 6: 106,639,595 (GRCm39) V575A possibly damaging Het
Col5a3 A T 9: 20,710,597 (GRCm39) F551I unknown Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Dcxr A G 11: 120,618,002 (GRCm39) probably null Het
Ddost T C 4: 138,036,741 (GRCm39) Y147H possibly damaging Het
Eif2ak2 A G 17: 79,181,472 (GRCm39) F92L probably benign Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
H2-T23 T A 17: 36,342,550 (GRCm39) N196I possibly damaging Het
Ighv9-2 A C 12: 114,072,905 (GRCm39) F23V probably benign Het
Igsf10 T C 3: 59,227,553 (GRCm39) E2040G probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Myh4 A G 11: 67,150,017 (GRCm39) probably null Het
Nlrp2 T C 7: 5,331,118 (GRCm39) D426G probably benign Het
Or1a1 T C 11: 74,086,859 (GRCm39) F177L probably damaging Het
Otof T C 5: 30,534,064 (GRCm39) D1415G probably benign Het
Ppig T C 2: 69,580,568 (GRCm39) S701P unknown Het
Ptprf A G 4: 118,092,831 (GRCm39) I528T probably damaging Het
Scara3 A G 14: 66,168,487 (GRCm39) Y377H probably damaging Het
Slf1 A T 13: 77,254,129 (GRCm39) *176R probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tarm1 T C 7: 3,546,084 (GRCm39) Y61C probably damaging Het
Tle4 A G 19: 14,432,103 (GRCm39) probably null Het
Tlr1 A T 5: 65,083,145 (GRCm39) N477K probably damaging Het
Tns2 C T 15: 102,019,664 (GRCm39) T518M probably damaging Het
Trim50 C T 5: 135,396,330 (GRCm39) T426M probably damaging Het
Vmn2r85 T C 10: 130,258,574 (GRCm39) I494V possibly damaging Het
Wdr17 T A 8: 55,085,353 (GRCm39) I1257F probably damaging Het
Zfp874a T C 13: 67,590,799 (GRCm39) H295R probably damaging 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
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'- ACCTCTCTATCTTGATGGCAGC -3'
(R):5'- AGGGGCTTGCGTTTACATCC -3'

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