Incidental Mutation 'R5248:Aebp1'
| ID |
398677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aebp1
|
| Ensembl Gene |
ENSMUSG00000020473 |
| Gene Name |
AE binding protein 1 |
| Synonyms |
ACLP |
| MMRRC Submission |
042819-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5248 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5811947-5822088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 5818501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 115
(D115E)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_pol_E_B
|
196 |
412 |
1e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102923
AA Change: D495E
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099987
Gene: ENSMUSG00000020473
AA Change: D495E
| Domain | Start | End | E-Value | Type |
|---|
|
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: D115E
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105454
Gene: ENSMUSG00000020473
AA Change: D115E
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,109,437 (GRCm39) |
E344D |
probably benign |
Het |
| Acoxl |
G |
A |
2: 127,917,855 (GRCm39) |
|
probably null |
Het |
| Adora1 |
A |
T |
1: 134,131,224 (GRCm39) |
L149Q |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,822,938 (GRCm39) |
I1819V |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,706,539 (GRCm39) |
H454R |
probably damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,906,842 (GRCm39) |
A1034V |
possibly damaging |
Het |
| B3galt2 |
T |
A |
1: 143,522,849 (GRCm39) |
F328L |
probably benign |
Het |
| Bbip1 |
G |
A |
19: 53,919,786 (GRCm39) |
|
probably benign |
Het |
| Brsk1 |
G |
A |
7: 4,711,865 (GRCm39) |
E572K |
possibly damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,442,897 (GRCm39) |
P716T |
possibly damaging |
Het |
| Clpx |
T |
C |
9: 65,228,132 (GRCm39) |
V380A |
probably damaging |
Het |
| Epha3 |
T |
A |
16: 63,418,620 (GRCm39) |
Q608H |
probably damaging |
Het |
| Gprc6a |
G |
T |
10: 51,491,089 (GRCm39) |
P712T |
probably damaging |
Het |
| Itpr1 |
C |
A |
6: 108,519,023 (GRCm39) |
Q2720K |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,548,735 (GRCm39) |
E1080G |
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,295,567 (GRCm39) |
R3163* |
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,888,755 (GRCm39) |
D292G |
probably benign |
Het |
| Mau2 |
A |
T |
8: 70,481,373 (GRCm39) |
C217S |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,714,220 (GRCm39) |
F210L |
probably damaging |
Het |
| Mtif2 |
G |
A |
11: 29,486,889 (GRCm39) |
V300M |
probably damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,694,905 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
C |
A |
2: 90,955,573 (GRCm39) |
|
probably null |
Het |
| Ncmap |
T |
C |
4: 135,107,430 (GRCm39) |
|
probably null |
Het |
| Nek9 |
A |
G |
12: 85,355,751 (GRCm39) |
F672S |
probably damaging |
Het |
| Nuak1 |
A |
T |
10: 84,245,542 (GRCm39) |
I101N |
probably damaging |
Het |
| Or8s16 |
T |
C |
15: 98,211,311 (GRCm39) |
N40S |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 58,286,515 (GRCm39) |
M1197K |
probably damaging |
Het |
| Pcdhb17 |
A |
C |
18: 37,618,939 (GRCm39) |
Q243P |
probably benign |
Het |
| Pcf11 |
T |
G |
7: 92,310,699 (GRCm39) |
K221Q |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,769 (GRCm39) |
R1182H |
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 23,001,900 (GRCm39) |
P1330Q |
probably benign |
Het |
| Rbm33 |
T |
G |
5: 28,542,050 (GRCm39) |
|
probably null |
Het |
| Rhobtb1 |
A |
G |
10: 69,084,615 (GRCm39) |
D2G |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,325,110 (GRCm39) |
C110* |
probably null |
Het |
| Setx |
T |
A |
2: 29,038,430 (GRCm39) |
N1638K |
probably benign |
Het |
| Slc24a3 |
A |
T |
2: 145,446,437 (GRCm39) |
M282L |
probably benign |
Het |
| Slc7a1 |
A |
T |
5: 148,270,798 (GRCm39) |
V556D |
possibly damaging |
Het |
| Sppl2c |
A |
T |
11: 104,077,407 (GRCm39) |
D69V |
possibly damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tas2r120 |
A |
T |
6: 132,634,110 (GRCm39) |
N64I |
probably damaging |
Het |
| Tcf25 |
G |
T |
8: 124,100,678 (GRCm39) |
A23S |
probably damaging |
Het |
| Tigd2 |
A |
T |
6: 59,188,138 (GRCm39) |
K335I |
probably damaging |
Het |
| Tlr6 |
A |
G |
5: 65,112,647 (GRCm39) |
S87P |
probably benign |
Het |
| Tmem135 |
T |
A |
7: 88,797,200 (GRCm39) |
Y352F |
probably damaging |
Het |
| Tob2 |
T |
C |
15: 81,735,918 (GRCm39) |
Y17C |
probably damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Vmn1r179 |
T |
C |
7: 23,628,478 (GRCm39) |
V223A |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,673,447 (GRCm39) |
V67A |
probably benign |
Het |
| Zswim4 |
G |
T |
8: 84,946,561 (GRCm39) |
N698K |
probably benign |
Het |
| Zzz3 |
A |
G |
3: 152,133,182 (GRCm39) |
Q80R |
probably damaging |
Het |
|
| Other mutations in Aebp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
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'- ACCTTCTTTGTGGGCTTCAG -3'
(R):5'- CATACAGGGCCTGGATCAGTTG -3'
Sequencing Primer
(F):5'- TGGGCTTCAGCAATGACAGC -3'
(R):5'- TGCTCCATATCCAAATCATATGCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation