Incidental Mutation 'R5982:Aebp1'
ID 481475
Institutional Source Beutler Lab
Gene Symbol Aebp1
Ensembl Gene ENSMUSG00000020473
Gene Name AE binding protein 1
Synonyms ACLP
MMRRC Submission 044163-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5982 (G1)
Quality Score 165.009
Status Validated
Chromosome 11
Chromosomal Location 5811947-5822088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5817911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 62 (T62I)
Ref Sequence ENSEMBL: ENSMUSP00000105454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102922] [ENSMUST00000102923] [ENSMUST00000109829]
AlphaFold Q640N1
Predicted Effect probably benign
Transcript: ENSMUST00000102922
SMART Domains Protein: ENSMUSP00000099986
Gene: ENSMUSG00000020471

DomainStartEndE-ValueType
Pfam:DNA_pol_E_B 196 412 1e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102923
AA Change: T442I

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473
AA Change: T442I

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 33 46 N/A INTRINSIC
low complexity region 85 102 N/A INTRINSIC
low complexity region 113 159 N/A INTRINSIC
low complexity region 217 229 N/A INTRINSIC
low complexity region 264 290 N/A INTRINSIC
low complexity region 324 341 N/A INTRINSIC
FA58C 375 531 8.72e-46 SMART
Zn_pept 555 983 5.56e-43 SMART
low complexity region 1005 1029 N/A INTRINSIC
low complexity region 1035 1052 N/A INTRINSIC
low complexity region 1069 1089 N/A INTRINSIC
low complexity region 1092 1106 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109829
AA Change: T62I

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473
AA Change: T62I

DomainStartEndE-ValueType
FA58C 1 151 2.04e-37 SMART
Zn_pept 175 603 5.56e-43 SMART
low complexity region 625 649 N/A INTRINSIC
low complexity region 655 672 N/A INTRINSIC
low complexity region 689 709 N/A INTRINSIC
low complexity region 712 726 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141907
Meta Mutation Damage Score 0.0870 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 98% (81/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for one null allele exhibit neonatal lethality, abdominal wall herniation, extrusion of the abdominal organs, and defects in wound healing. Mice homozygous for another null allele exhibit embryonic lethality, decreased white adipose tissue, and resistance to diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,423 (GRCm39) E931D possibly damaging Het
Babam2 A T 5: 31,977,964 (GRCm39) E139V possibly damaging Het
Bclaf1 C T 10: 20,198,809 (GRCm39) R67* probably null Het
Bcr C A 10: 75,012,248 (GRCm39) T51K probably benign Het
Best3 T A 10: 116,840,322 (GRCm39) C251S probably damaging Het
Birc6 A G 17: 74,955,153 (GRCm39) M3457V probably benign Het
C87436 C A 6: 86,422,957 (GRCm39) T177K possibly damaging Het
Cabin1 T A 10: 75,561,394 (GRCm39) T1036S probably benign Het
Catsperg2 C A 7: 29,412,442 (GRCm39) V383L possibly damaging Het
Ccdc182 C T 11: 88,185,165 (GRCm39) Q82* probably null Het
Ccl9 T C 11: 83,466,700 (GRCm39) T76A probably damaging Het
Cdc16 G T 8: 13,831,399 (GRCm39) C544F possibly damaging Het
Cdh18 A C 15: 23,474,302 (GRCm39) D724A possibly damaging Het
Cdip1 G A 16: 4,587,946 (GRCm39) P6S probably damaging Het
Col12a1 A G 9: 79,537,842 (GRCm39) V2542A probably damaging Het
Dnajc13 G T 9: 104,061,814 (GRCm39) T1380K possibly damaging Het
Dsg4 T A 18: 20,598,226 (GRCm39) S715T possibly damaging Het
Dync2h1 G T 9: 6,955,986 (GRCm39) T4132K probably benign Het
Egfem1 A T 3: 29,711,419 (GRCm39) probably null Het
Etl4 G T 2: 20,785,826 (GRCm39) V716L probably damaging Het
Exoc3l2 A G 7: 19,213,957 (GRCm39) E461G unknown Het
Fam135b A G 15: 71,320,518 (GRCm39) probably null Het
Flrt3 G T 2: 140,502,836 (GRCm39) P264Q possibly damaging Het
Fmn2 G C 1: 174,330,019 (GRCm39) E136D unknown Het
Fosl2 A G 5: 32,304,217 (GRCm39) I51V probably benign Het
Foxm1 A G 6: 128,347,998 (GRCm39) T307A probably damaging Het
Garem1 T C 18: 21,281,408 (GRCm39) D316G possibly damaging Het
Gm14403 A T 2: 177,200,345 (GRCm39) H97L probably damaging Het
Gm5616 A G 9: 48,361,890 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,229,589 (GRCm39) D696G probably benign Het
Igkv1-88 C A 6: 68,839,432 (GRCm39) W60L probably damaging Het
Iqgap3 G A 3: 87,998,899 (GRCm39) W333* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnk3 G T 5: 30,780,014 (GRCm39) V355L probably benign Het
Kmt5c A C 7: 4,749,790 (GRCm39) K436T probably damaging Het
Lynx1 T C 15: 74,623,264 (GRCm39) Y56C possibly damaging Het
Lypd5 T C 7: 24,052,462 (GRCm39) S149P probably damaging Het
Map3k21 A T 8: 126,638,169 (GRCm39) N252Y probably damaging Het
Mgat2 T C 12: 69,232,454 (GRCm39) W343R probably damaging Het
Misp T G 10: 79,663,728 (GRCm39) Y567* probably null Het
Mrgprb1 A T 7: 48,097,568 (GRCm39) S115T probably benign Het
Muc16 A C 9: 18,558,442 (GRCm39) I2617R unknown Het
Myo19 T A 11: 84,790,226 (GRCm39) V394E probably damaging Het
Myo9b T A 8: 71,801,040 (GRCm39) L1065Q probably benign Het
Nap1l1 A G 10: 111,331,229 (GRCm39) D405G possibly damaging Het
Napb A T 2: 148,542,411 (GRCm39) probably null Het
Nbas A G 12: 13,443,431 (GRCm39) Y1162C probably benign Het
Nfam1 A T 15: 82,917,325 (GRCm39) L36Q probably damaging Het
Nrros T C 16: 31,963,411 (GRCm39) D202G probably damaging Het
Or51k1 T G 7: 103,661,117 (GRCm39) H264P probably damaging Het
Or7a39 T G 10: 78,715,787 (GRCm39) Y260* probably null Het
Osgin2 T C 4: 15,998,908 (GRCm39) E238G probably benign Het
Papss2 A G 19: 32,616,636 (GRCm39) T221A probably benign Het
Pcdhga12 A C 18: 37,901,084 (GRCm39) K639Q probably damaging Het
Pkhd1l1 T A 15: 44,352,900 (GRCm39) probably null Het
Pmepa1 A G 2: 173,076,105 (GRCm39) S83P possibly damaging Het
Pnp G A 14: 51,188,000 (GRCm39) V118M probably damaging Het
Ppat T C 5: 77,063,112 (GRCm39) T500A probably benign Het
Pramel22 C A 4: 143,381,034 (GRCm39) V330F probably damaging Het
Rab11fip4 A G 11: 79,581,601 (GRCm39) N532S probably benign Het
Rbm25 A G 12: 83,718,725 (GRCm39) D499G probably damaging Het
Rnf139 A G 15: 58,770,687 (GRCm39) I237M possibly damaging Het
Rrp15 C T 1: 186,471,952 (GRCm39) S85N possibly damaging Het
Sidt1 T C 16: 44,082,071 (GRCm39) Y568C probably damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Sltm G C 9: 70,494,086 (GRCm39) E828Q probably damaging Het
Spindoc A G 19: 7,351,960 (GRCm39) I129T probably damaging Het
Spire1 T A 18: 67,630,386 (GRCm39) probably null Het
Styx A G 14: 45,605,909 (GRCm39) T138A probably benign Het
Sv2c A T 13: 96,112,571 (GRCm39) L642* probably null Het
Taf7 T C 18: 37,776,498 (GRCm39) E23G probably damaging Het
Tcp10a A T 17: 7,612,425 (GRCm39) T406S possibly damaging Het
Tnrc6b T A 15: 80,765,017 (GRCm39) S840T probably benign Het
Tns3 A G 11: 8,442,245 (GRCm39) I706T probably damaging Het
Tpsab1 A G 17: 25,564,346 (GRCm39) V36A probably benign Het
Trafd1 T A 5: 121,511,342 (GRCm39) D492V probably damaging Het
Trp53 A G 11: 69,478,244 (GRCm39) E51G probably benign Het
Vdr C T 15: 97,755,477 (GRCm39) A349T probably benign Het
Vmn2r59 T C 7: 41,695,491 (GRCm39) D307G probably benign Het
Zfp365 C A 10: 67,733,437 (GRCm39) V252F probably damaging Het
Zfp830 T A 11: 82,655,803 (GRCm39) N202K probably benign Het
Other mutations in Aebp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Aebp1 APN 11 5,821,787 (GRCm39) missense possibly damaging 0.67
IGL01464:Aebp1 APN 11 5,819,822 (GRCm39) missense possibly damaging 0.46
IGL01561:Aebp1 APN 11 5,821,349 (GRCm39) missense probably damaging 1.00
IGL01648:Aebp1 APN 11 5,820,607 (GRCm39) missense possibly damaging 0.96
IGL01950:Aebp1 APN 11 5,819,108 (GRCm39) missense probably benign 0.02
IGL02094:Aebp1 APN 11 5,818,357 (GRCm39) missense probably benign 0.17
IGL02585:Aebp1 APN 11 5,820,855 (GRCm39) splice site probably null
R0006:Aebp1 UTSW 11 5,813,935 (GRCm39) unclassified probably benign
R0551:Aebp1 UTSW 11 5,817,955 (GRCm39) missense probably benign 0.04
R1144:Aebp1 UTSW 11 5,818,475 (GRCm39) missense probably benign 0.17
R1265:Aebp1 UTSW 11 5,821,740 (GRCm39) missense probably damaging 0.98
R1297:Aebp1 UTSW 11 5,820,834 (GRCm39) missense possibly damaging 0.69
R1518:Aebp1 UTSW 11 5,821,469 (GRCm39) missense possibly damaging 0.58
R1524:Aebp1 UTSW 11 5,820,089 (GRCm39) missense probably damaging 0.98
R2567:Aebp1 UTSW 11 5,820,251 (GRCm39) missense probably benign 0.29
R3155:Aebp1 UTSW 11 5,821,425 (GRCm39) missense probably benign 0.16
R4415:Aebp1 UTSW 11 5,815,451 (GRCm39) missense probably damaging 0.96
R4507:Aebp1 UTSW 11 5,820,565 (GRCm39) missense probably damaging 1.00
R5248:Aebp1 UTSW 11 5,818,501 (GRCm39) missense possibly damaging 0.63
R5597:Aebp1 UTSW 11 5,816,487 (GRCm39) missense probably benign 0.01
R5809:Aebp1 UTSW 11 5,820,257 (GRCm39) missense probably benign
R5919:Aebp1 UTSW 11 5,821,421 (GRCm39) missense probably benign 0.00
R6139:Aebp1 UTSW 11 5,821,842 (GRCm39) missense probably damaging 1.00
R7067:Aebp1 UTSW 11 5,816,431 (GRCm39) critical splice acceptor site probably null
R7289:Aebp1 UTSW 11 5,815,059 (GRCm39) missense probably damaging 1.00
R7383:Aebp1 UTSW 11 5,818,548 (GRCm39) missense probably damaging 1.00
R7437:Aebp1 UTSW 11 5,819,757 (GRCm39) missense possibly damaging 0.50
R8681:Aebp1 UTSW 11 5,817,899 (GRCm39) missense probably null 1.00
R9292:Aebp1 UTSW 11 5,815,260 (GRCm39) missense possibly damaging 0.90
R9429:Aebp1 UTSW 11 5,821,649 (GRCm39) missense probably benign 0.01
R9740:Aebp1 UTSW 11 5,821,721 (GRCm39) missense probably benign 0.32
Z1088:Aebp1 UTSW 11 5,821,460 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCAACATGCAGGTGGGTGAG -3'
(R):5'- TGTCTGCCCATCTGAACATGTG -3'

Sequencing Primer
(F):5'- AGTGGGCTGTCTATCTGCAG -3'
(R):5'- CCCATCTGAACATGTGGAGTATG -3'
Posted On 2017-06-26