Incidental Mutation 'R1144:Aebp1'
ID102300
Institutional Source Beutler Lab
Gene Symbol Aebp1
Ensembl Gene ENSMUSG00000020473
Gene NameAE binding protein 1
SynonymsACLP
MMRRC Submission 039217-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1144 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location5861947-5872088 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5868475 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 107 (T107A)
Ref Sequence ENSEMBL: ENSMUSP00000105454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102922] [ENSMUST00000102923] [ENSMUST00000109829]
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 probably benign
Transcript: ENSMUST00000102923
AA Change: T487A

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473
AA Change: T487A

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
AA Change: T107A

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473
AA Change: T107A

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 0.118 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 100% (64/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 120,360,860 probably benign Het
Abcc5 A T 16: 20,422,438 probably benign Het
Acsl5 A C 19: 55,291,843 D516A probably damaging Het
Adcy1 G A 11: 7,137,400 A425T probably damaging Het
Arhgef33 T C 17: 80,355,044 S219P probably benign Het
Atm T G 9: 53,511,698 probably benign Het
C1ql2 A C 1: 120,342,537 Y276S probably damaging Het
Cacna2d1 T C 5: 16,322,597 probably null Het
Cmbl A G 15: 31,581,874 N6D probably benign Het
Cntn3 A G 6: 102,242,126 V511A possibly damaging Het
Coq9 C A 8: 94,842,623 R28S probably benign Het
Creld1 T C 6: 113,483,961 F20S probably benign Het
Dcstamp A G 15: 39,760,368 K404E possibly damaging Het
Dip2b T A 15: 100,154,250 I244K probably benign Het
Dnhd1 G A 7: 105,713,031 E3700K probably damaging Het
Dnmt3l T A 10: 78,051,905 C110S probably damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fgfr1 T G 8: 25,558,143 V172G probably damaging Het
Frem3 C A 8: 80,611,884 Q269K probably benign Het
Frmd6 C A 12: 70,877,168 H67N probably damaging Het
Fry A G 5: 150,418,464 T1532A possibly damaging Het
Git2 G T 5: 114,753,314 S243R probably benign Het
Grid1 A G 14: 35,562,676 probably benign Het
Grp A G 18: 65,879,970 D69G probably damaging Het
Hmbox1 A T 14: 64,825,683 L347Q probably damaging Het
Hrasls5 A G 19: 7,613,330 D74G probably benign Het
Hsh2d C T 8: 72,193,592 probably benign Het
Itpr3 G A 17: 27,114,923 S2018N probably benign Het
Kif13b T A 14: 64,714,117 V69D probably benign Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Lmcd1 T A 6: 112,310,751 probably benign Het
Megf9 C A 4: 70,534,624 A67S probably benign Het
Myo5b G A 18: 74,625,587 R213H probably damaging Het
Myo5c T A 9: 75,286,448 Y1162N probably damaging Het
Nphs1 A G 7: 30,481,678 probably benign Het
Ntrk1 G A 3: 87,781,542 T568I probably damaging Het
Pcmtd1 A G 1: 7,120,481 H58R probably damaging Het
Plxna4 A T 6: 32,197,156 I1168N possibly damaging Het
Ppm1h A G 10: 122,941,278 D483G probably benign Het
Prdm15 G A 16: 97,808,708 R579C probably damaging Het
Prickle1 T A 15: 93,512,461 R41W probably damaging Het
Rbm19 A G 5: 120,123,016 D235G possibly damaging Het
Smco2 A G 6: 146,871,140 probably benign Het
Sned1 G C 1: 93,280,576 G785R probably damaging Het
Stat4 A G 1: 52,084,129 probably benign Het
Syne2 T A 12: 75,966,524 F2830I probably benign Het
Tbc1d9 A G 8: 83,236,571 D304G possibly damaging Het
Thsd7a G A 6: 12,471,027 probably benign Het
Tmem63b T A 17: 45,666,427 K383N probably benign Het
Trp53rka C A 2: 165,493,041 probably benign Het
Trub1 G A 19: 57,485,131 V207M probably benign Het
Ulk2 A T 11: 61,800,060 C551S possibly damaging Het
Urb1 A T 16: 90,776,318 probably null Het
Vmn1r219 C A 13: 23,163,213 Q191K probably damaging Het
Vmn2r1 A T 3: 64,090,120 D399V probably damaging Het
Vmn2r87 A G 10: 130,476,229 probably benign Het
Wars A T 12: 108,888,365 L41* probably null Het
Washc2 G A 6: 116,224,534 E64K probably damaging Het
Washc4 G A 10: 83,580,330 R828Q probably damaging Het
Wdr59 A T 8: 111,486,944 M313K probably benign Het
Wscd2 G A 5: 113,561,090 probably null Het
Zdhhc20 A C 14: 57,856,678 L176V probably benign Het
Other mutations in Aebp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Aebp1 APN 11 5871787 missense possibly damaging 0.67
IGL01464:Aebp1 APN 11 5869822 missense possibly damaging 0.46
IGL01561:Aebp1 APN 11 5871349 missense probably damaging 1.00
IGL01648:Aebp1 APN 11 5870607 missense possibly damaging 0.96
IGL01950:Aebp1 APN 11 5869108 missense probably benign 0.02
IGL02094:Aebp1 APN 11 5868357 missense probably benign 0.17
IGL02585:Aebp1 APN 11 5870855 splice site probably null
R0006:Aebp1 UTSW 11 5863935 unclassified probably benign
R0551:Aebp1 UTSW 11 5867955 missense probably benign 0.04
R1265:Aebp1 UTSW 11 5871740 missense probably damaging 0.98
R1297:Aebp1 UTSW 11 5870834 missense possibly damaging 0.69
R1518:Aebp1 UTSW 11 5871469 missense possibly damaging 0.58
R1524:Aebp1 UTSW 11 5870089 missense probably damaging 0.98
R2567:Aebp1 UTSW 11 5870251 missense probably benign 0.29
R3155:Aebp1 UTSW 11 5871425 missense probably benign 0.16
R4415:Aebp1 UTSW 11 5865451 missense probably damaging 0.96
R4507:Aebp1 UTSW 11 5870565 missense probably damaging 1.00
R5248:Aebp1 UTSW 11 5868501 missense possibly damaging 0.63
R5597:Aebp1 UTSW 11 5866487 missense probably benign 0.01
R5809:Aebp1 UTSW 11 5870257 missense probably benign
R5919:Aebp1 UTSW 11 5871421 missense probably benign 0.00
R5982:Aebp1 UTSW 11 5867911 missense possibly damaging 0.69
R6139:Aebp1 UTSW 11 5871842 missense probably damaging 1.00
R7067:Aebp1 UTSW 11 5866431 critical splice acceptor site probably null
Z1088:Aebp1 UTSW 11 5871460 nonsense probably null
Predicted Primers
Posted On2014-01-15