Incidental Mutation 'R7139:Apeh'
ID 553278
Institutional Source Beutler Lab
Gene Symbol Apeh
Ensembl Gene ENSMUSG00000032590
Gene Name acylpeptide hydrolase
Synonyms N-acylaminoacyl peptide hydrolase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7139 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 107962613-107971736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107969345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 260 (F260I)
Ref Sequence ENSEMBL: ENSMUSP00000141856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035208] [ENSMUST00000191985] [ENSMUST00000193254]
AlphaFold Q8R146
Predicted Effect probably benign
Transcript: ENSMUST00000035208
SMART Domains Protein: ENSMUSP00000035208
Gene: ENSMUSG00000032589

DomainStartEndE-ValueType
low complexity region 4 40 N/A INTRINSIC
low complexity region 42 77 N/A INTRINSIC
Pfam:zf-piccolo 165 223 6.1e-30 PFAM
low complexity region 394 409 N/A INTRINSIC
low complexity region 445 454 N/A INTRINSIC
Pfam:zf-piccolo 462 520 5.2e-31 PFAM
low complexity region 527 540 N/A INTRINSIC
low complexity region 627 643 N/A INTRINSIC
low complexity region 664 681 N/A INTRINSIC
low complexity region 694 708 N/A INTRINSIC
low complexity region 788 803 N/A INTRINSIC
low complexity region 994 1021 N/A INTRINSIC
coiled coil region 1047 1101 N/A INTRINSIC
low complexity region 1131 1145 N/A INTRINSIC
low complexity region 1173 1190 N/A INTRINSIC
low complexity region 1209 1220 N/A INTRINSIC
low complexity region 1333 1343 N/A INTRINSIC
low complexity region 1443 1455 N/A INTRINSIC
low complexity region 1481 1498 N/A INTRINSIC
low complexity region 1790 1800 N/A INTRINSIC
low complexity region 2117 2126 N/A INTRINSIC
low complexity region 2287 2303 N/A INTRINSIC
low complexity region 2326 2356 N/A INTRINSIC
SCOP:d1eq1a_ 2362 2477 2e-7 SMART
low complexity region 2607 2614 N/A INTRINSIC
low complexity region 2635 2651 N/A INTRINSIC
low complexity region 2655 2672 N/A INTRINSIC
coiled coil region 2949 2990 N/A INTRINSIC
low complexity region 3057 3071 N/A INTRINSIC
low complexity region 3089 3114 N/A INTRINSIC
low complexity region 3446 3461 N/A INTRINSIC
low complexity region 3520 3534 N/A INTRINSIC
low complexity region 3653 3666 N/A INTRINSIC
low complexity region 3750 3820 N/A INTRINSIC
low complexity region 3831 3852 N/A INTRINSIC
low complexity region 3856 3901 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000080058
Gene: ENSMUSG00000032590
AA Change: F258I

DomainStartEndE-ValueType
Pfam:DLH 485 721 2e-8 PFAM
Pfam:Abhydrolase_1 501 633 3.8e-9 PFAM
Pfam:Abhydrolase_5 501 708 5e-16 PFAM
Pfam:Peptidase_S9 516 732 1.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124763
Predicted Effect probably benign
Transcript: ENSMUST00000191985
SMART Domains Protein: ENSMUSP00000142150
Gene: ENSMUSG00000032590

DomainStartEndE-ValueType
low complexity region 3 19 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000193254
AA Change: F260I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590
AA Change: F260I

DomainStartEndE-ValueType
Pfam:DLH 485 721 4.8e-8 PFAM
Pfam:Abhydrolase_5 501 708 5.7e-16 PFAM
Pfam:Abhydrolase_6 503 714 6.2e-14 PFAM
Pfam:Peptidase_S9 515 732 1.4e-38 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,026,295 (GRCm39) R272G possibly damaging Het
4930512M02Rik T A 11: 11,540,078 (GRCm39) N179Y unknown Het
4930562C15Rik A T 16: 4,668,048 (GRCm39) M480L probably benign Het
Abcd4 A G 12: 84,653,072 (GRCm39) C377R probably benign Het
Adam23 C A 1: 63,584,736 (GRCm39) D381E probably damaging Het
Angpt1 T A 15: 42,539,747 (GRCm39) Q37H probably damaging Het
Cadps2 T C 6: 23,410,888 (GRCm39) Y681C probably damaging Het
Ccdc162 T C 10: 41,542,717 (GRCm39) M386V possibly damaging Het
Celsr2 T C 3: 108,322,675 (GRCm39) S46G unknown Het
Cfc1 T C 1: 34,575,560 (GRCm39) L78P probably benign Het
Chd7 T C 4: 8,865,865 (GRCm39) V2724A probably benign Het
Clca3a1 A T 3: 144,461,063 (GRCm39) V196E possibly damaging Het
Cma1 T C 14: 56,181,273 (GRCm39) H44R probably damaging Het
Cnot2 T C 10: 116,330,924 (GRCm39) N394S probably benign Het
Cplx3 A T 9: 57,522,879 (GRCm39) H160Q probably benign Het
Cstf3 A T 2: 104,483,409 (GRCm39) I372F possibly damaging Het
Cyb5rl A C 4: 106,928,208 (GRCm39) I115L probably benign Het
D5Ertd579e A G 5: 36,771,320 (GRCm39) L1025P probably damaging Het
Dmtn T C 14: 70,854,867 (GRCm39) N36S probably benign Het
Dnah6 A G 6: 73,112,663 (GRCm39) V1647A probably damaging Het
Dock6 T C 9: 21,712,572 (GRCm39) Y2063C probably damaging Het
Dst T A 1: 34,338,888 (GRCm39) D5149E probably damaging Het
Fancl A G 11: 26,353,358 (GRCm39) M85V probably benign Het
Fgd2 T A 17: 29,592,229 (GRCm39) F387Y probably damaging Het
Fshr A T 17: 89,293,589 (GRCm39) I363N possibly damaging Het
Glce G T 9: 61,977,716 (GRCm39) S56* probably null Het
Gm26727 A T 2: 67,263,381 (GRCm39) S49T unknown Het
Gm36210 T A 7: 4,902,277 (GRCm39) D131V probably damaging Het
Gm5089 T C 14: 122,673,403 (GRCm39) D106G unknown Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
H2-Eb2 C T 17: 34,553,395 (GRCm39) R194W probably benign Het
Hivep1 A T 13: 42,313,430 (GRCm39) E1890V probably benign Het
Ighv1-53 A T 12: 115,122,441 (GRCm39) C5* probably null Het
Ighv2-5 T A 12: 113,649,219 (GRCm39) Y78F probably benign Het
Il9 C T 13: 56,628,426 (GRCm39) V88I probably benign Het
Kidins220 A G 12: 25,044,820 (GRCm39) T163A probably damaging Het
Lama4 G T 10: 38,951,491 (GRCm39) D1079Y probably damaging Het
Lrrc34 T C 3: 30,679,036 (GRCm39) I354V probably benign Het
Macroh2a2 T A 10: 61,593,674 (GRCm39) M1L unknown Het
Mpeg1 A T 19: 12,439,078 (GRCm39) T179S probably benign Het
Mrgpra2a A T 7: 47,076,337 (GRCm39) L307H probably damaging Het
Mst1 G A 9: 107,960,027 (GRCm39) R328H probably damaging Het
Muc21 TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT TCCTGAGGCAGTGCTGGAT 17: 35,933,525 (GRCm39) probably benign Het
Nav3 C A 10: 109,689,338 (GRCm39) S313I probably benign Het
Nmt2 T G 2: 3,285,352 (GRCm39) S7A probably benign Het
Nsmce1 T C 7: 125,068,254 (GRCm39) S197G probably benign Het
Ociad2 A G 5: 73,493,218 (GRCm39) V4A probably benign Het
Or56a41 G T 7: 104,742,005 (GRCm39) T7K probably benign Het
Osmr T C 15: 6,850,569 (GRCm39) D679G possibly damaging Het
Pappa T A 4: 65,107,687 (GRCm39) F699L probably benign Het
Parp8 T A 13: 117,161,802 (GRCm39) M40L probably benign Het
Pcyox1 A T 6: 86,371,519 (GRCm39) N122K possibly damaging Het
Pkd1l1 T C 11: 8,840,737 (GRCm39) S1224G Het
Pkd1l3 T A 8: 110,362,972 (GRCm39) S1088T probably damaging Het
Prrt1 T C 17: 34,850,051 (GRCm39) V155A probably benign Het
Rbm6 A C 9: 107,730,410 (GRCm39) D79E probably damaging Het
Sec31b A T 19: 44,507,375 (GRCm39) S819T probably benign Het
Slc22a27 A T 19: 7,903,912 (GRCm39) I75N probably damaging Het
Slc25a54 G A 3: 109,005,905 (GRCm39) G138R probably damaging Het
Slc6a12 T C 6: 121,342,278 (GRCm39) S612P probably benign Het
Slc7a2 A T 8: 41,368,050 (GRCm39) I605F probably benign Het
Slit2 A G 5: 48,402,025 (GRCm39) T805A probably benign Het
Strbp A T 2: 37,514,514 (GRCm39) H308Q probably benign Het
Stxbp4 G A 11: 90,497,835 (GRCm39) Q155* probably null Het
Sybu A T 15: 44,541,110 (GRCm39) N317K possibly damaging Het
Taok1 G A 11: 77,462,459 (GRCm39) S210F probably damaging Het
Tapbp A G 17: 34,139,022 (GRCm39) D72G possibly damaging Het
Thbd G T 2: 148,248,461 (GRCm39) T469K probably benign Het
Tia1 T C 6: 86,404,670 (GRCm39) Y302H possibly damaging Het
Tlr4 T C 4: 66,758,520 (GRCm39) F438L probably benign Het
Tmem235 C T 11: 117,751,723 (GRCm39) S49L probably damaging Het
Trip4 A G 9: 65,792,503 (GRCm39) probably benign Het
Trrap C A 5: 144,739,988 (GRCm39) L1137I possibly damaging Het
Vmo1 T C 11: 70,404,674 (GRCm39) E109G probably benign Het
Wdfy4 T C 14: 32,873,535 (GRCm39) Y258C Het
Wdr91 T G 6: 34,885,198 (GRCm39) N121T possibly damaging Het
Zfp39 T C 11: 58,781,385 (GRCm39) H459R probably damaging Het
Zfp936 T A 7: 42,839,715 (GRCm39) I394K possibly damaging Het
Zpr1 G A 9: 46,192,357 (GRCm39) D423N probably damaging Het
Other mutations in Apeh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Apeh APN 9 107,963,406 (GRCm39) missense probably benign
IGL02232:Apeh APN 9 107,969,071 (GRCm39) missense probably benign 0.02
IGL02563:Apeh APN 9 107,970,908 (GRCm39) missense possibly damaging 0.85
IGL02713:Apeh APN 9 107,962,871 (GRCm39) missense probably damaging 1.00
IGL02794:Apeh APN 9 107,969,209 (GRCm39) missense possibly damaging 0.94
IGL03355:Apeh APN 9 107,963,644 (GRCm39) missense probably benign 0.00
R6807_Apeh_606 UTSW 9 107,969,878 (GRCm39) missense probably damaging 1.00
R0511:Apeh UTSW 9 107,964,254 (GRCm39) missense probably benign
R1221:Apeh UTSW 9 107,969,808 (GRCm39) missense probably benign
R1574:Apeh UTSW 9 107,969,925 (GRCm39) splice site probably null
R1863:Apeh UTSW 9 107,969,302 (GRCm39) missense possibly damaging 0.91
R2126:Apeh UTSW 9 107,962,866 (GRCm39) missense probably damaging 1.00
R2353:Apeh UTSW 9 107,963,491 (GRCm39) missense possibly damaging 0.84
R4930:Apeh UTSW 9 107,965,024 (GRCm39) missense probably benign
R5156:Apeh UTSW 9 107,971,486 (GRCm39) missense probably damaging 1.00
R5278:Apeh UTSW 9 107,968,457 (GRCm39) missense probably benign 0.08
R5366:Apeh UTSW 9 107,969,005 (GRCm39) missense probably benign 0.01
R5384:Apeh UTSW 9 107,963,662 (GRCm39) missense probably damaging 1.00
R5940:Apeh UTSW 9 107,969,098 (GRCm39) splice site probably null
R6102:Apeh UTSW 9 107,963,638 (GRCm39) missense probably damaging 1.00
R6300:Apeh UTSW 9 107,969,878 (GRCm39) missense probably damaging 1.00
R6368:Apeh UTSW 9 107,964,442 (GRCm39) missense probably damaging 1.00
R6807:Apeh UTSW 9 107,969,878 (GRCm39) missense probably damaging 1.00
R6809:Apeh UTSW 9 107,969,878 (GRCm39) missense probably damaging 1.00
R6817:Apeh UTSW 9 107,969,878 (GRCm39) missense probably damaging 1.00
R6828:Apeh UTSW 9 107,964,237 (GRCm39) missense probably damaging 1.00
R6866:Apeh UTSW 9 107,969,878 (GRCm39) missense probably damaging 1.00
R7034:Apeh UTSW 9 107,971,470 (GRCm39) missense possibly damaging 0.70
R7036:Apeh UTSW 9 107,971,470 (GRCm39) missense possibly damaging 0.70
R8024:Apeh UTSW 9 107,969,790 (GRCm39) missense probably benign 0.20
R8289:Apeh UTSW 9 107,963,444 (GRCm39) missense probably damaging 0.99
R8731:Apeh UTSW 9 107,964,422 (GRCm39) missense probably benign
R8957:Apeh UTSW 9 107,969,572 (GRCm39) missense probably benign 0.21
R9055:Apeh UTSW 9 107,963,045 (GRCm39) missense possibly damaging 0.64
R9569:Apeh UTSW 9 107,971,609 (GRCm39) missense unknown
R9695:Apeh UTSW 9 107,963,483 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAACAGTCAGGAAAGCACGTGC -3'
(R):5'- TGCGTGCTGGATATCGAGAG -3'

Sequencing Primer
(F):5'- TGCGGACGCCAGACACTTAC -3'
(R):5'- TGGTAACATCTCCGTGCTTGAG -3'
Posted On 2019-05-15