Incidental Mutation 'R7289:Aebp1'
ID 566254
Institutional Source Beutler Lab
Gene Symbol Aebp1
Ensembl Gene ENSMUSG00000020473
Gene Name AE binding protein 1
Synonyms ACLP
MMRRC Submission 045396-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7289 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 5811947-5822088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5815059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 234 (D234G)
Ref Sequence ENSEMBL: ENSMUSP00000099987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102923] [ENSMUST00000109829]
AlphaFold Q640N1
Predicted Effect probably damaging
Transcript: ENSMUST00000102923
AA Change: D234G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473
AA Change: D234G

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,818,550 (GRCm39) D112N probably damaging Het
Abca7 T A 10: 79,845,778 (GRCm39) I1580K probably damaging Het
Agap1 T A 1: 89,383,153 (GRCm39) M1K probably null Het
Agrn A T 4: 156,263,389 (GRCm39) L345H probably damaging Het
Amfr A G 8: 94,725,754 (GRCm39) M209T possibly damaging Het
Angel2 G A 1: 190,673,371 (GRCm39) R338H possibly damaging Het
Ankrd27 C T 7: 35,330,674 (GRCm39) A866V probably damaging Het
Apc G A 18: 34,448,324 (GRCm39) R1740Q probably damaging Het
Arhgap32 A T 9: 32,168,233 (GRCm39) S739C possibly damaging Het
Arhgap32 G C 9: 32,168,234 (GRCm39) S739T probably benign Het
Arhgef2 C T 3: 88,543,192 (GRCm39) S418L probably benign Het
Arhgef25 T C 10: 127,019,641 (GRCm39) T472A possibly damaging Het
Atrnl1 C T 19: 57,638,846 (GRCm39) S328F probably benign Het
Bahcc1 C T 11: 120,171,000 (GRCm39) A1514V probably benign Het
Calcoco2 C T 11: 95,990,823 (GRCm39) E305K unknown Het
Ccn1 C T 3: 145,354,428 (GRCm39) W161* probably null Het
Cdc42bpa A T 1: 179,889,362 (GRCm39) K203* probably null Het
Cmc1 A T 9: 117,904,250 (GRCm39) I47N possibly damaging Het
Cntln A G 4: 84,964,540 (GRCm39) E656G possibly damaging Het
Dcun1d3 T C 7: 119,458,864 (GRCm39) K57R possibly damaging Het
Ddx23 T C 15: 98,546,492 (GRCm39) E559G probably damaging Het
Dennd6a G A 14: 26,333,193 (GRCm39) R367Q probably damaging Het
Desi2 A T 1: 178,083,702 (GRCm39) probably benign Het
Dido1 T C 2: 180,301,424 (GRCm39) D2160G unknown Het
Efcab3 T C 11: 104,929,184 (GRCm39) M4838T probably benign Het
Epb41 A G 4: 131,718,520 (GRCm39) probably null Het
Esrrb T A 12: 86,517,331 (GRCm39) probably null Het
Fabp1 C A 6: 71,180,111 (GRCm39) T94N probably benign Het
Fam120a A T 13: 49,045,482 (GRCm39) C785S probably damaging Het
Fam243 T C 16: 92,117,710 (GRCm39) I193V probably damaging Het
Foxc1 A G 13: 31,991,243 (GRCm39) Y18C probably damaging Het
Fshr T C 17: 89,293,272 (GRCm39) T469A probably benign Het
Gm14399 T A 2: 174,972,204 (GRCm39) H517L unknown Het
Gm39115 G T 7: 141,689,297 (GRCm39) Q159K unknown Het
Gm7347 T A 5: 26,262,306 (GRCm39) I72F possibly damaging Het
Hmcn1 A G 1: 150,559,466 (GRCm39) V2395A possibly damaging Het
Ighv5-17 T G 12: 113,822,858 (GRCm39) T88P probably damaging Het
Insm2 T A 12: 55,647,329 (GRCm39) Y358N probably damaging Het
Kazn A T 4: 141,844,486 (GRCm39) L409Q Het
Kcnj5 A C 9: 32,234,045 (GRCm39) L90R probably damaging Het
Kcnv2 A T 19: 27,311,084 (GRCm39) T484S probably damaging Het
Kdm3b T C 18: 34,927,557 (GRCm39) Y140H probably benign Het
Kifbp A C 10: 62,401,895 (GRCm39) C261W probably damaging Het
Krt25 C T 11: 99,212,098 (GRCm39) A180T probably benign Het
Mmp1a A G 9: 7,467,294 (GRCm39) E290G probably damaging Het
Muc21 G A 17: 35,929,761 (GRCm39) A1475V unknown Het
Nr3c1 T C 18: 39,547,654 (GRCm39) T755A probably benign Het
Nr3c1 A T 18: 39,555,786 (GRCm39) I517N probably benign Het
Nxpe2 A G 9: 48,234,339 (GRCm39) probably null Het
Oaz1 C A 10: 80,662,673 (GRCm39) T27K possibly damaging Het
Or4p7 A T 2: 88,222,050 (GRCm39) H153L probably damaging Het
Or51f5 T C 7: 102,424,634 (GRCm39) I301T probably damaging Het
Or5t5 G T 2: 86,617,034 (GRCm39) C320F probably benign Het
Or6z3 T A 7: 6,463,777 (GRCm39) W90R probably benign Het
Or8k21 A G 2: 86,145,369 (GRCm39) M87T probably benign Het
Or8s5 A G 15: 98,237,943 (GRCm39) V309A probably damaging Het
Pafah2 A T 4: 134,147,308 (GRCm39) K319M probably damaging Het
Pask A T 1: 93,259,309 (GRCm39) V236E probably damaging Het
Pcdh1 T C 18: 38,322,966 (GRCm39) T956A probably damaging Het
Pcdhb18 C A 18: 37,623,700 (GRCm39) N343K probably damaging Het
Pcsk2 A T 2: 143,532,343 (GRCm39) I164F probably damaging Het
Phf1 T C 17: 27,154,289 (GRCm39) Y169H probably damaging Het
Pkdrej T A 15: 85,705,301 (GRCm39) I212F probably benign Het
Pnkp T A 7: 44,508,114 (GRCm39) W146R probably damaging Het
Prkcb A T 7: 122,143,910 (GRCm39) I325F probably benign Het
Ptpn21 C T 12: 98,670,450 (GRCm39) D239N probably benign Het
Ptprb A G 10: 116,164,070 (GRCm39) T626A probably damaging Het
Pttg1 T C 11: 43,311,916 (GRCm39) N180D probably benign Het
Raly G A 2: 154,703,774 (GRCm39) R115Q probably damaging Het
Rims2 A T 15: 39,301,114 (GRCm39) M474L probably benign Het
Sash1 A T 10: 8,605,960 (GRCm39) I810N probably damaging Het
Scnn1g T A 7: 121,337,304 (GRCm39) L55* probably null Het
Sema6b A T 17: 56,432,573 (GRCm39) D543E possibly damaging Het
Serpina11 C T 12: 103,952,761 (GRCm39) G5E unknown Het
Sesn3 A T 9: 14,187,848 (GRCm39) M1L probably benign Het
Sez6 T A 11: 77,865,149 (GRCm39) I632N possibly damaging Het
Sgo2b A T 8: 64,394,192 (GRCm39) I49N probably damaging Het
Slc30a2 A T 4: 134,071,524 (GRCm39) I86F possibly damaging Het
Slc38a6 T A 12: 73,333,786 (GRCm39) W30R probably benign Het
Spata31g1 A T 4: 42,972,379 (GRCm39) T571S probably benign Het
Spata31g1 A T 4: 42,973,252 (GRCm39) I862F possibly damaging Het
Stk31 T G 6: 49,415,393 (GRCm39) V576G probably benign Het
Szt2 G A 4: 118,233,075 (GRCm39) T2297I unknown Het
Tmem208 T C 8: 106,061,418 (GRCm39) F148S possibly damaging Het
Tprg1l A G 4: 154,245,031 (GRCm39) L19P possibly damaging Het
Tubg2 C A 11: 101,050,897 (GRCm39) N207K probably damaging Het
Ube2n G T 10: 95,377,612 (GRCm39) K130N probably benign Het
Usp36 T C 11: 118,164,355 (GRCm39) Y384C probably damaging Het
Vcan A T 13: 89,840,852 (GRCm39) L1564* probably null Het
Xkr6 A T 14: 64,035,748 (GRCm39) D283V unknown Het
Zfp654 T C 16: 64,605,523 (GRCm39) H352R probably benign Het
Zfp819 T A 7: 43,266,506 (GRCm39) C330S probably damaging Het
Zfp970 G T 2: 177,167,086 (GRCm39) C220F 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
R7067:Aebp1 UTSW 11 5,816,431 (GRCm39) critical splice acceptor site probably null
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'- CTTCCCAAATGCCTGGCAAG -3'
(R):5'- AAGTGAGCCAGGGTCTCTCTTC -3'

Sequencing Primer
(F):5'- CCAAATGCCTGGCAAGGTCAAG -3'
(R):5'- AGTCTTCTCCTCAGGGCG -3'
Posted On 2019-06-26