Incidental Mutation 'R7745:Aebp2'
| ID |
596792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aebp2
|
| Ensembl Gene |
ENSMUSG00000030232 |
| Gene Name |
AE binding protein 2 |
| Synonyms |
B230313N05Rik |
| MMRRC Submission |
045801-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7745 (G1)
|
| Quality Score |
98.0078 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
140568389-140624198 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140569584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 55
(L55Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032359]
[ENSMUST00000087614]
[ENSMUST00000095350]
[ENSMUST00000160836]
[ENSMUST00000161335]
|
| AlphaFold |
Q9Z248 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032359
|
| SMART Domains |
Protein: ENSMUSP00000032359
Gene: ENSMUSG00000030232
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
32 |
57 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
66 |
93 |
5.92e0 |
SMART |
|
ZnF_C2H2
|
99 |
123 |
2.2e-2 |
SMART |
|
low complexity region
|
149 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000087614
AA Change: L55Q
|
| SMART Domains |
Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232
AA Change: L55Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
199 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
254 |
279 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
288 |
315 |
5.92e0 |
SMART |
|
ZnF_C2H2
|
321 |
345 |
2.2e-2 |
SMART |
|
low complexity region
|
371 |
387 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000095350
AA Change: L55Q
|
| SMART Domains |
Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232
AA Change: L55Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
77 |
102 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
111 |
138 |
5.92e0 |
SMART |
|
ZnF_C2H2
|
144 |
168 |
2.2e-2 |
SMART |
|
low complexity region
|
194 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160836
|
| SMART Domains |
Protein: ENSMUSP00000124148
Gene: ENSMUSG00000030232
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
32 |
57 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
66 |
93 |
5.92e0 |
SMART |
|
ZnF_C2H2
|
99 |
123 |
2.2e-2 |
SMART |
|
low complexity region
|
149 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161335
|
| SMART Domains |
Protein: ENSMUSP00000125479
Gene: ENSMUSG00000030232
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
32 |
57 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
66 |
93 |
5.92e0 |
SMART |
|
ZnF_C2H2
|
99 |
123 |
2.2e-2 |
SMART |
|
low complexity region
|
149 |
165 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (55/57) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a mutation in this gene show complete embryonic lethality. Heterozygous mutant mice show aganglionic megacolon, hypopigmentation of the tail tip and hind toes, and a decreased startle reflex. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
C |
3: 59,945,893 (GRCm39) |
S188R |
probably damaging |
Het |
| Aars1 |
T |
A |
8: 111,768,289 (GRCm39) |
I220N |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,931,440 (GRCm39) |
N16S |
probably damaging |
Het |
| Adck1 |
A |
T |
12: 88,423,570 (GRCm39) |
M358L |
probably benign |
Het |
| Adck5 |
A |
T |
15: 76,478,748 (GRCm39) |
Q345L |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,542,094 (GRCm39) |
F876S |
probably damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,215,676 (GRCm39) |
V1036A |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,279,866 (GRCm39) |
D494G |
probably benign |
Het |
| Cacna1a |
C |
A |
8: 85,286,023 (GRCm39) |
H889Q |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 119,029,587 (GRCm39) |
D151G |
|
Het |
| Car8 |
A |
G |
4: 8,237,939 (GRCm39) |
V92A |
possibly damaging |
Het |
| Ccdc8 |
G |
T |
7: 16,729,614 (GRCm39) |
A368S |
unknown |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,370,013 (GRCm39) |
I877V |
probably benign |
Het |
| Copa |
A |
T |
1: 171,939,509 (GRCm39) |
D582V |
probably damaging |
Het |
| Cpne2 |
T |
G |
8: 95,295,312 (GRCm39) |
S466A |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,816,156 (GRCm39) |
K1311R |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 15,982,461 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,342,144 (GRCm39) |
C2947* |
probably null |
Het |
| Exoc1 |
A |
T |
5: 76,709,359 (GRCm39) |
K656* |
probably null |
Het |
| Exoc8 |
T |
C |
8: 125,622,558 (GRCm39) |
N603S |
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,226,483 (GRCm39) |
C539S |
possibly damaging |
Het |
| Fastkd5 |
A |
T |
2: 130,456,988 (GRCm39) |
I534K |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,145,115 (GRCm39) |
D2708G |
probably benign |
Het |
| Fhad1 |
A |
G |
4: 141,618,250 (GRCm39) |
L1392P |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,874,754 (GRCm39) |
T2306S |
probably benign |
Het |
| Gdf7 |
G |
T |
12: 8,351,854 (GRCm39) |
A27E |
unknown |
Het |
| Hnrnph1 |
A |
T |
11: 50,270,324 (GRCm39) |
I43F |
probably damaging |
Het |
| Igkv8-27 |
T |
A |
6: 70,148,999 (GRCm39) |
S52C |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,052,824 (GRCm39) |
F24L |
probably damaging |
Het |
| Knl1 |
T |
G |
2: 118,902,037 (GRCm39) |
L1246R |
probably benign |
Het |
| Limk2 |
C |
T |
11: 3,305,896 (GRCm39) |
S191N |
probably damaging |
Het |
| Mdga2 |
C |
A |
12: 66,736,125 (GRCm39) |
A368S |
possibly damaging |
Het |
| Mdga2 |
G |
A |
12: 66,736,124 (GRCm39) |
A368V |
probably damaging |
Het |
| Med24 |
A |
T |
11: 98,595,793 (GRCm39) |
L966Q |
probably damaging |
Het |
| Mgll |
T |
C |
6: 88,702,770 (GRCm39) |
V23A |
possibly damaging |
Het |
| Nedd1 |
C |
T |
10: 92,550,034 (GRCm39) |
D84N |
probably benign |
Het |
| Obscn |
A |
C |
11: 58,951,681 (GRCm39) |
L4024R |
probably damaging |
Het |
| Or5k1b |
A |
T |
16: 58,580,782 (GRCm39) |
Y252* |
probably null |
Het |
| Pcnx2 |
T |
C |
8: 126,577,846 (GRCm39) |
I944V |
probably benign |
Het |
| Pecr |
T |
C |
1: 72,306,157 (GRCm39) |
|
probably null |
Het |
| Phf3 |
A |
T |
1: 30,843,305 (GRCm39) |
W1885R |
probably damaging |
Het |
| Pitpnm2 |
C |
G |
5: 124,266,768 (GRCm39) |
A697P |
probably benign |
Het |
| Piwil2 |
T |
A |
14: 70,631,638 (GRCm39) |
H602L |
probably benign |
Het |
| Pprc1 |
T |
C |
19: 46,053,781 (GRCm39) |
S1104P |
unknown |
Het |
| Prkar1a |
T |
A |
11: 109,544,673 (GRCm39) |
Y21* |
probably null |
Het |
| Prl2c3 |
A |
T |
13: 12,813,186 (GRCm39) |
Y9* |
probably null |
Het |
| Rhbdl3 |
T |
A |
11: 80,214,405 (GRCm39) |
L172Q |
possibly damaging |
Het |
| Rsph3a |
T |
G |
17: 8,198,075 (GRCm39) |
L484W |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,530,962 (GRCm39) |
S809T |
probably benign |
Het |
| Stmnd1 |
T |
A |
13: 46,453,077 (GRCm39) |
V251E |
possibly damaging |
Het |
| Stt3a |
A |
T |
9: 36,662,535 (GRCm39) |
C241* |
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,401 (GRCm39) |
M209K |
probably damaging |
Het |
| Tchh |
G |
T |
3: 93,352,084 (GRCm39) |
R508L |
unknown |
Het |
| Tgfbr3l |
T |
C |
8: 4,300,622 (GRCm39) |
S267P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,598,144 (GRCm39) |
I19590F |
probably damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,035 (GRCm39) |
T87A |
probably benign |
Het |
|
| Other mutations in Aebp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00915:Aebp2
|
APN |
6 |
140,587,980 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01935:Aebp2
|
APN |
6 |
140,583,383 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02149:Aebp2
|
APN |
6 |
140,588,010 (GRCm39) |
missense |
probably benign |
0.06 |
|
Amazonian
|
UTSW |
6 |
140,587,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Floral
|
UTSW |
6 |
140,583,456 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Herbal
|
UTSW |
6 |
140,583,389 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Medicinal
|
UTSW |
6 |
140,583,452 (GRCm39) |
nonsense |
probably null |
|
|
PIT4453001:Aebp2
|
UTSW |
6 |
140,583,412 (GRCm39) |
nonsense |
probably null |
|
|
R0030:Aebp2
|
UTSW |
6 |
140,583,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0091:Aebp2
|
UTSW |
6 |
140,589,800 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0744:Aebp2
|
UTSW |
6 |
140,588,090 (GRCm39) |
splice site |
probably null |
|
|
R1603:Aebp2
|
UTSW |
6 |
140,587,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1990:Aebp2
|
UTSW |
6 |
140,579,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Aebp2
|
UTSW |
6 |
140,579,420 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2075:Aebp2
|
UTSW |
6 |
140,579,420 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2971:Aebp2
|
UTSW |
6 |
140,579,624 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3805:Aebp2
|
UTSW |
6 |
140,589,675 (GRCm39) |
frame shift |
probably null |
|
|
R3911:Aebp2
|
UTSW |
6 |
140,593,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3921:Aebp2
|
UTSW |
6 |
140,579,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4020:Aebp2
|
UTSW |
6 |
140,588,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4374:Aebp2
|
UTSW |
6 |
140,599,984 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4856:Aebp2
|
UTSW |
6 |
140,589,799 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5022:Aebp2
|
UTSW |
6 |
140,583,456 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5140:Aebp2
|
UTSW |
6 |
140,579,532 (GRCm39) |
nonsense |
probably null |
|
|
R5761:Aebp2
|
UTSW |
6 |
140,569,943 (GRCm39) |
unclassified |
probably benign |
|
|
R6983:Aebp2
|
UTSW |
6 |
140,583,389 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7168:Aebp2
|
UTSW |
6 |
140,579,426 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7259:Aebp2
|
UTSW |
6 |
140,579,494 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7463:Aebp2
|
UTSW |
6 |
140,583,452 (GRCm39) |
nonsense |
probably null |
|
|
R7556:Aebp2
|
UTSW |
6 |
140,623,137 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7654:Aebp2
|
UTSW |
6 |
140,599,474 (GRCm39) |
splice site |
probably null |
|
|
R8258:Aebp2
|
UTSW |
6 |
140,583,453 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8259:Aebp2
|
UTSW |
6 |
140,583,453 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8540:Aebp2
|
UTSW |
6 |
140,579,439 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8540:Aebp2
|
UTSW |
6 |
140,579,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9133:Aebp2
|
UTSW |
6 |
140,579,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Aebp2
|
UTSW |
6 |
140,587,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9431:Aebp2
|
UTSW |
6 |
140,592,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9605:Aebp2
|
UTSW |
6 |
140,593,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Aebp2
|
UTSW |
6 |
140,588,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Aebp2
|
UTSW |
6 |
140,569,820 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCAAAGAAACTCTGGAGG -3'
(R):5'- ACGCTACTGCTGCTGCTAC -3'
Sequencing Primer
(F):5'- TGTGCAGCCTGACGCAG -3'
(R):5'- GTCCCTTGGGCTCCTCCAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation