Incidental Mutation 'R3911:Aebp2'
ID |
309386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aebp2
|
Ensembl Gene |
ENSMUSG00000030232 |
Gene Name |
AE binding protein 2 |
Synonyms |
B230313N05Rik |
MMRRC Submission |
040909-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3911 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
140568389-140624198 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140593707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 230
(D230E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125479
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032359]
[ENSMUST00000087614]
[ENSMUST00000095350]
[ENSMUST00000160836]
[ENSMUST00000161335]
|
AlphaFold |
Q9Z248 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032359
AA Change: D230E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032359 Gene: ENSMUSG00000030232 AA Change: D230E
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 damaging
Transcript: ENSMUST00000068583
AA Change: D251E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064302 Gene: ENSMUSG00000030232 AA Change: D251E
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
53 |
78 |
1.26e-2 |
SMART |
ZnF_C2H2
|
87 |
114 |
5.92e0 |
SMART |
ZnF_C2H2
|
120 |
144 |
2.2e-2 |
SMART |
low complexity region
|
170 |
186 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087614
AA Change: D452E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084896 Gene: ENSMUSG00000030232 AA Change: D452E
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 |
probably damaging
Transcript: ENSMUST00000095350
AA Change: D452E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092993 Gene: ENSMUSG00000030232 AA Change: D452E
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 |
noncoding transcript
Transcript: ENSMUST00000160772
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160836
AA Change: D230E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124148 Gene: ENSMUSG00000030232 AA Change: D230E
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 damaging
Transcript: ENSMUST00000161335
AA Change: D230E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125479 Gene: ENSMUSG00000030232 AA Change: D230E
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: ENSMUST00000162903
AA Change: D135E
|
SMART Domains |
Protein: ENSMUSP00000123897 Gene: ENSMUSG00000030232 AA Change: D135E
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
2 |
26 |
2.2e-2 |
SMART |
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162100
|
Meta Mutation Damage Score |
0.5039 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (71/71) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
A |
5: 124,227,909 (GRCm39) |
I111F |
probably benign |
Het |
Abcc12 |
A |
C |
8: 87,255,048 (GRCm39) |
|
probably benign |
Het |
Adgre1 |
G |
T |
17: 57,754,860 (GRCm39) |
V653L |
probably damaging |
Het |
Asap3 |
A |
G |
4: 135,956,768 (GRCm39) |
|
probably benign |
Het |
Bod1l |
T |
C |
5: 41,974,441 (GRCm39) |
E2291G |
probably damaging |
Het |
Casp8 |
A |
T |
1: 58,872,864 (GRCm39) |
S267C |
probably damaging |
Het |
Cchcr1 |
T |
C |
17: 35,836,233 (GRCm39) |
V341A |
probably damaging |
Het |
Cd2ap |
T |
A |
17: 43,126,980 (GRCm39) |
|
probably null |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Clip1 |
T |
A |
5: 123,728,897 (GRCm39) |
E1155D |
probably damaging |
Het |
Cnnm2 |
A |
G |
19: 46,866,375 (GRCm39) |
E841G |
probably damaging |
Het |
Cntrl |
G |
A |
2: 35,010,061 (GRCm39) |
R245H |
probably damaging |
Het |
Cyp2b23 |
A |
T |
7: 26,380,842 (GRCm39) |
S128T |
probably benign |
Het |
Dhrs11 |
A |
T |
11: 84,712,579 (GRCm39) |
I196N |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
Edc3 |
A |
T |
9: 57,655,686 (GRCm39) |
I479F |
possibly damaging |
Het |
Emg1 |
T |
A |
6: 124,682,009 (GRCm39) |
M172L |
probably benign |
Het |
Epha7 |
G |
A |
4: 28,938,680 (GRCm39) |
V512I |
probably benign |
Het |
Exoc7 |
T |
C |
11: 116,197,731 (GRCm39) |
D27G |
probably benign |
Het |
Fasl |
C |
A |
1: 161,615,760 (GRCm39) |
C32F |
probably benign |
Het |
Flg |
A |
T |
3: 93,187,307 (GRCm39) |
H253L |
probably benign |
Het |
Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
Gm17067 |
T |
A |
7: 42,360,104 (GRCm39) |
I43L |
possibly damaging |
Het |
Gpld1 |
A |
G |
13: 25,146,305 (GRCm39) |
Y183C |
probably damaging |
Het |
Gpr137c |
C |
A |
14: 45,516,392 (GRCm39) |
P327T |
probably benign |
Het |
Hepacam2 |
A |
G |
6: 3,494,477 (GRCm39) |
M1T |
probably null |
Het |
Ighv5-4 |
A |
T |
12: 113,561,060 (GRCm39) |
|
probably benign |
Het |
Iqca1l |
A |
T |
5: 24,750,440 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
T |
A |
12: 119,131,740 (GRCm39) |
E635V |
possibly damaging |
Het |
Kat14 |
T |
C |
2: 144,245,982 (GRCm39) |
V469A |
probably damaging |
Het |
Kcnj15 |
C |
T |
16: 95,097,329 (GRCm39) |
T317I |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klhl18 |
A |
T |
9: 110,265,151 (GRCm39) |
L285Q |
probably damaging |
Het |
Krt90 |
G |
A |
15: 101,471,218 (GRCm39) |
R15W |
probably damaging |
Het |
Krtap4-8 |
A |
T |
11: 99,670,863 (GRCm39) |
C203S |
unknown |
Het |
Lsp1 |
C |
T |
7: 142,040,098 (GRCm39) |
S75F |
probably damaging |
Het |
Map1b |
A |
G |
13: 99,567,580 (GRCm39) |
S1714P |
unknown |
Het |
Mcm2 |
A |
G |
6: 88,865,234 (GRCm39) |
I481T |
probably damaging |
Het |
Mcpt9 |
T |
C |
14: 56,265,136 (GRCm39) |
T122A |
probably benign |
Het |
Megf10 |
A |
T |
18: 57,422,465 (GRCm39) |
R947W |
probably damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
Or51ai2 |
A |
T |
7: 103,586,616 (GRCm39) |
N10Y |
possibly damaging |
Het |
Pank4 |
A |
G |
4: 155,054,058 (GRCm39) |
Y79C |
probably damaging |
Het |
Pds5b |
T |
A |
5: 150,670,171 (GRCm39) |
N386K |
probably benign |
Het |
Pfkm |
A |
G |
15: 98,022,928 (GRCm39) |
M362V |
probably benign |
Het |
Phc2 |
T |
C |
4: 128,637,351 (GRCm39) |
|
probably null |
Het |
Pou4f1 |
C |
T |
14: 104,703,611 (GRCm39) |
A274T |
unknown |
Het |
Proc |
A |
G |
18: 32,256,758 (GRCm39) |
L303P |
probably damaging |
Het |
Ptk2b |
C |
T |
14: 66,394,517 (GRCm39) |
G821D |
possibly damaging |
Het |
Rlim |
T |
C |
X: 103,006,267 (GRCm39) |
T545A |
probably benign |
Het |
Serpinb6c |
T |
C |
13: 34,077,888 (GRCm39) |
N161D |
probably benign |
Het |
Sf3b1 |
G |
A |
1: 55,058,548 (GRCm39) |
Q14* |
probably null |
Het |
Sh3d19 |
G |
A |
3: 86,014,534 (GRCm39) |
V442M |
possibly damaging |
Het |
Slc30a8 |
A |
G |
15: 52,185,097 (GRCm39) |
I140V |
probably benign |
Het |
Spata1 |
T |
A |
3: 146,181,079 (GRCm39) |
N293I |
probably damaging |
Het |
Strap |
T |
G |
6: 137,712,380 (GRCm39) |
C10G |
probably damaging |
Het |
Tcf7 |
C |
A |
11: 52,173,793 (GRCm39) |
|
probably benign |
Het |
Tmem114 |
A |
T |
16: 8,230,054 (GRCm39) |
M116K |
probably damaging |
Het |
Tmem63b |
A |
G |
17: 45,988,884 (GRCm39) |
S113P |
probably damaging |
Het |
Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
Tns2 |
T |
C |
15: 102,022,272 (GRCm39) |
|
probably null |
Het |
Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,132,151 (GRCm39) |
V791D |
probably benign |
Het |
Vmn2r99 |
T |
C |
17: 19,614,635 (GRCm39) |
F785S |
possibly damaging |
Het |
Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
Wdr35 |
A |
T |
12: 9,036,077 (GRCm39) |
I283F |
probably benign |
Het |
Wnt10b |
G |
T |
15: 98,672,219 (GRCm39) |
A166E |
possibly damaging |
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 |
|
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 |
|
R7745:Aebp2
|
UTSW |
6 |
140,569,584 (GRCm39) |
missense |
unknown |
|
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'- GCTACCCACTGAATGTGTGC -3'
(R):5'- TGGTTCTGAATGCTCTGATGAAAG -3'
Sequencing Primer
(F):5'- ACTGAATGTGTGCTGCTCC -3'
(R):5'- CTGAATGCTCTGATGAAAGATGTTC -3'
|
Posted On |
2015-04-17 |