Incidental Mutation 'R4683:Acyp1'
ID 350127
Institutional Source Beutler Lab
Gene Symbol Acyp1
Ensembl Gene ENSMUSG00000008822
Gene Name acylphosphatase 1
Synonyms 1110039O14Rik
MMRRC Submission 041935-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.431) question?
Stock # R4683 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 85319172-85335212 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 85325717 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: I94T
SMART Domains Protein: ENSMUSP00000070555
Gene: ENSMUSG00000008822
AA Change: I94T

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,141,709 (GRCm39) V56A probably damaging Het
Adgrb1 A T 15: 74,459,963 (GRCm39) K532I probably damaging Het
Ahrr T A 13: 74,372,885 (GRCm39) silent Het
Asz1 T C 6: 18,055,541 (GRCm39) probably benign Het
AW554918 T C 18: 25,472,852 (GRCm39) Y219H probably benign Het
Ccno C A 13: 113,125,543 (GRCm39) probably null Het
Cdh17 A T 4: 11,817,036 (GRCm39) N816Y possibly damaging Het
Clca4a C T 3: 144,660,701 (GRCm39) V708I probably damaging Het
Col6a3 T A 1: 90,701,179 (GRCm39) Y2579F unknown Het
Col6a4 A G 9: 105,957,329 (GRCm39) V165A probably benign Het
Csf1r T A 18: 61,257,983 (GRCm39) C651S probably damaging Het
Cyp4f14 T C 17: 33,126,985 (GRCm39) D315G probably null Het
Def6 A G 17: 28,436,609 (GRCm39) D91G probably damaging Het
Dmxl1 T G 18: 50,011,088 (GRCm39) S1082A probably damaging Het
Dnah2 A T 11: 69,349,768 (GRCm39) Y2392N probably damaging Het
Dsg4 T C 18: 20,594,466 (GRCm39) S532P probably benign Het
Efr3a C A 15: 65,691,650 (GRCm39) S126R probably damaging Het
Gab1 A C 8: 81,515,261 (GRCm39) H352Q probably benign Het
Gm1110 A G 9: 26,831,890 (GRCm39) M87T probably damaging Het
Greb1 C T 12: 16,761,774 (GRCm39) M535I possibly damaging Het
Greb1l T A 18: 10,529,563 (GRCm39) probably null Het
Gucy2d T C 7: 98,102,650 (GRCm39) C487R probably benign Het
H1f7 A T 15: 98,154,921 (GRCm39) I76N probably damaging Het
Lrrc2 A T 9: 110,791,614 (GRCm39) H122L possibly damaging Het
Mrps22 A T 9: 98,480,359 (GRCm39) probably null Het
Mxd3 T C 13: 55,473,613 (GRCm39) T202A probably benign Het
Neb T C 2: 52,134,074 (GRCm39) H3303R possibly damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or13a19 T C 7: 139,902,681 (GRCm39) L23P probably benign Het
Or14j6 A G 17: 38,215,039 (GRCm39) T201A probably benign Het
Pard3b T C 1: 62,255,675 (GRCm39) Y629H probably benign Het
Pcnx1 A G 12: 82,033,446 (GRCm39) D1781G probably benign Het
Pcsk5 A T 19: 17,450,405 (GRCm39) C1148S probably damaging Het
Pcsk9 A T 4: 106,316,092 (GRCm39) I117N possibly damaging Het
Pcyt1b C A X: 92,789,970 (GRCm39) P318H probably damaging Het
Pfkfb2 T A 1: 130,634,221 (GRCm39) probably null Het
Pi4ka T C 16: 17,114,901 (GRCm39) E1456G possibly damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Sh2b2 C T 5: 136,260,574 (GRCm39) C214Y probably damaging Het
Slc52a2 C A 15: 76,424,433 (GRCm39) P224T probably damaging Het
Slf2 C G 19: 44,923,920 (GRCm39) R245G probably benign Het
Sox5 T C 6: 143,779,193 (GRCm39) S648G probably damaging Het
Stk36 T A 1: 74,673,344 (GRCm39) I1079N probably benign Het
Stxbp3 T C 3: 108,708,188 (GRCm39) D371G probably damaging Het
Trnau1ap A T 4: 132,049,063 (GRCm39) Y47N probably damaging Het
Ubr5 C T 15: 38,038,211 (GRCm39) R316H probably damaging Het
Vmn1r230 C T 17: 21,067,515 (GRCm39) R235C probably benign Het
Wnt10a C T 1: 74,842,296 (GRCm39) H93Y unknown Het
Zfp1005 T A 2: 150,108,390 (GRCm39) H50Q possibly damaging Het
Zfp52 A G 17: 21,781,769 (GRCm39) D539G 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
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'- CACCTGGAGTGTCTGACGAC -3'
(R):5'- TCCAAATTATCTGGAGTAGCACGT -3'

Sequencing Primer
(F):5'- TGTCTGACGACAGCTACAGTGTAC -3'
(R):5'- TCCTTGTCTTATCACCAAGGAACAG -3'
Posted On 2015-10-08