Incidental Mutation 'R7067:Aebp1'
ID 548643
Institutional Source Beutler Lab
Gene Symbol Aebp1
Ensembl Gene ENSMUSG00000020473
Gene Name AE binding protein 1
Synonyms ACLP
MMRRC Submission 045163-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7067 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 5811947-5822088 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 5816431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102923] [ENSMUST00000109829]
AlphaFold Q640N1
Predicted Effect probably null
Transcript: ENSMUST00000102923
SMART Domains Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473

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 probably benign
Transcript: ENSMUST00000109829
SMART Domains Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,852,921 (GRCm39) S72C probably damaging Het
Abca13 A G 11: 9,241,845 (GRCm39) D1236G probably benign Het
Abcc6 T C 7: 45,668,114 (GRCm39) N165D probably benign Het
Afg2a C T 3: 37,485,847 (GRCm39) Q190* probably null Het
Anapc4 A G 5: 53,019,577 (GRCm39) T580A probably benign Het
Apob T C 12: 8,059,423 (GRCm39) I2602T probably damaging Het
Arap2 A G 5: 62,811,387 (GRCm39) probably null Het
Asap3 T A 4: 135,968,673 (GRCm39) probably null Het
Bend4 A G 5: 67,557,611 (GRCm39) Y402H probably damaging Het
Ccn2 A G 10: 24,472,873 (GRCm39) Y261C probably benign Het
Crtc2 A G 3: 90,167,489 (GRCm39) N271S probably benign Het
Csf2rb2 A T 15: 78,176,694 (GRCm39) W233R probably damaging Het
Cyp2u1 G A 3: 131,087,202 (GRCm39) L460F probably damaging Het
Dnm3 A G 1: 162,148,540 (GRCm39) L277P probably damaging Het
Efemp1 A T 11: 28,817,926 (GRCm39) N135I probably damaging Het
Elapor2 G T 5: 9,316,295 (GRCm39) A9S possibly damaging Het
Fsip2 T A 2: 82,811,078 (GRCm39) S2466T possibly damaging Het
Gal3st2 C T 1: 93,802,447 (GRCm39) A276V possibly damaging Het
Gm47985 A T 1: 151,059,241 (GRCm39) D294V unknown Het
Golga1 A T 2: 38,937,731 (GRCm39) D104E probably benign Het
Hnrnpr C T 4: 136,054,704 (GRCm39) A219V probably damaging Het
Hsd3b7 T C 7: 127,399,888 (GRCm39) probably null Het
Hspa8 T C 9: 40,715,921 (GRCm39) I562T probably damaging Het
Htra4 C T 8: 25,523,717 (GRCm39) V283M probably damaging Het
Il36rn C T 2: 24,167,541 (GRCm39) R11* probably null Het
Iqcd A G 5: 120,743,212 (GRCm39) T325A probably damaging Het
Kif23 A T 9: 61,832,271 (GRCm39) M624K probably benign Het
Krt25 G T 11: 99,208,209 (GRCm39) Q340K probably benign Het
Lamp3 T A 16: 19,518,413 (GRCm39) N275Y probably damaging Het
Lpin2 A C 17: 71,551,853 (GRCm39) K789T possibly damaging Het
Mroh2b T C 15: 4,929,986 (GRCm39) I24T probably benign Het
Muc16 T A 9: 18,569,547 (GRCm39) I991F unknown Het
Ntf5 T A 7: 45,065,048 (GRCm39) L60Q probably damaging Het
Nuak1 A G 10: 84,276,158 (GRCm39) S22P possibly damaging Het
Obox8 T C 7: 14,066,979 (GRCm39) T22A possibly damaging Het
Or8k21 T A 2: 86,144,911 (GRCm39) T240S probably damaging Het
Pde8a T C 7: 80,967,074 (GRCm39) V405A probably benign Het
Phc2 T C 4: 128,640,934 (GRCm39) S147P probably benign Het
Pole G T 5: 110,482,084 (GRCm39) G142V probably damaging Het
Poli G A 18: 70,642,488 (GRCm39) Q508* probably null Het
Repin1 T A 6: 48,574,850 (GRCm39) L537* probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Slc30a2 T A 4: 134,071,529 (GRCm39) probably null Het
Slit3 A G 11: 35,399,057 (GRCm39) S141G probably benign Het
Spon2 A G 5: 33,371,958 (GRCm39) S283P probably damaging Het
Srgap3 A T 6: 112,734,266 (GRCm39) probably benign Het
Syde2 A G 3: 145,694,019 (GRCm39) D89G probably benign Het
Syne1 A G 10: 5,184,586 (GRCm39) I4099T probably damaging Het
Syt5 T C 7: 4,546,075 (GRCm39) D105G probably benign Het
Tlx3 C T 11: 33,153,204 (GRCm39) G86S probably damaging Het
Trim24 A T 6: 37,934,775 (GRCm39) probably null Het
Umodl1 G A 17: 31,201,246 (GRCm39) V392I probably damaging Het
Unc80 C A 1: 66,685,731 (GRCm39) T2285K possibly damaging Het
Vars1 G A 17: 35,230,455 (GRCm39) V513I probably damaging Het
Vmn1r87 T A 7: 12,865,849 (GRCm39) Q146L probably benign Het
Vmn2r62 T C 7: 42,414,302 (GRCm39) I714V probably benign Het
Xbp1 T A 11: 5,474,275 (GRCm39) S159T probably damaging Het
Xrn1 T A 9: 95,851,565 (GRCm39) H194Q probably damaging Het
Zc3h4 A T 7: 16,162,976 (GRCm39) K459* probably null Het
Zdhhc6 G A 19: 55,292,871 (GRCm39) R292* probably null Het
Zfp383 T A 7: 29,608,071 (GRCm39) M1K probably null Het
Zfp703 A G 8: 27,469,044 (GRCm39) D236G probably damaging 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
R5982:Aebp1 UTSW 11 5,817,911 (GRCm39) missense possibly damaging 0.69
R6139:Aebp1 UTSW 11 5,821,842 (GRCm39) missense probably damaging 1.00
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'- ACAAATGGTAGCTGCCACC -3'
(R):5'- CATGCAGATAAGGATCAGGCTG -3'

Sequencing Primer
(F):5'- ACCCAGGCACCTGTCTTG -3'
(R):5'- TCAGGCTGAGCAGGGGAC -3'
Posted On 2019-05-13