Incidental Mutation 'R2971:Aebp2'
| ID |
265676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aebp2
|
| Ensembl Gene |
ENSMUSG00000030232 |
| Gene Name |
AE binding protein 2 |
| Synonyms |
B230313N05Rik |
| MMRRC Submission |
040525-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2971 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
140568389-140624198 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 140579624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032359]
[ENSMUST00000087614]
[ENSMUST00000095350]
[ENSMUST00000160836]
[ENSMUST00000160836]
[ENSMUST00000161335]
[ENSMUST00000161335]
|
| AlphaFold |
Q9Z248 |
| Predicted Effect |
probably null
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 |
probably null
Transcript: ENSMUST00000068583
|
| SMART Domains |
Protein: ENSMUSP00000064302
Gene: ENSMUSG00000030232
| 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 null
Transcript: ENSMUST00000087614
|
| SMART Domains |
Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232
| 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 null
Transcript: ENSMUST00000095350
|
| SMART Domains |
Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232
| 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 null
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 null
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 null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162903
|
| SMART Domains |
Protein: ENSMUSP00000123897
Gene: ENSMUSG00000030232
| 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: ENSMUST00000204724
|
| Meta Mutation Damage Score |
0.9503 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,749,447 (GRCm39) |
D1406G |
possibly damaging |
Het |
| Ap5m1 |
T |
A |
14: 49,321,339 (GRCm39) |
Y49* |
probably null |
Het |
| Atp8b5 |
T |
C |
4: 43,361,953 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,970,224 (GRCm39) |
S518P |
probably damaging |
Het |
| Ces1c |
T |
A |
8: 93,830,821 (GRCm39) |
D445V |
probably benign |
Het |
| Ctnnbl1 |
C |
T |
2: 157,713,106 (GRCm39) |
H464Y |
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,420,018 (GRCm39) |
K238E |
probably benign |
Het |
| Gdf10 |
G |
A |
14: 33,646,148 (GRCm39) |
R99H |
probably damaging |
Het |
| Gm4779 |
G |
A |
X: 100,836,568 (GRCm39) |
P116L |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,198,708 (GRCm39) |
S812P |
probably damaging |
Het |
| Ifit3b |
C |
T |
19: 34,589,417 (GRCm39) |
Q198* |
probably null |
Het |
| Irgm1 |
A |
T |
11: 48,757,417 (GRCm39) |
Y131* |
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,474,175 (GRCm39) |
N1630S |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nme6 |
A |
G |
9: 109,671,159 (GRCm39) |
|
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,723,065 (GRCm39) |
I50N |
probably damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,908 (GRCm39) |
T57A |
probably damaging |
Het |
| Plch2 |
T |
G |
4: 155,075,224 (GRCm39) |
M797L |
probably benign |
Het |
| Plscr2 |
G |
T |
9: 92,172,724 (GRCm39) |
E128* |
probably null |
Het |
| Plxna2 |
T |
A |
1: 194,480,039 (GRCm39) |
D1403E |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,556,552 (GRCm39) |
T25A |
unknown |
Het |
| Psmb11 |
T |
C |
14: 54,862,800 (GRCm39) |
V6A |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprd |
T |
G |
4: 76,025,561 (GRCm39) |
S546R |
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,676,411 (GRCm39) |
N120D |
probably benign |
Het |
| Skint1 |
C |
A |
4: 111,878,527 (GRCm39) |
P153H |
possibly damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Tmem201 |
A |
G |
4: 149,806,902 (GRCm39) |
|
probably benign |
Het |
| Ube2v1 |
T |
C |
2: 167,452,256 (GRCm39) |
N89D |
probably damaging |
Het |
| Zfp282 |
A |
T |
6: 47,874,866 (GRCm39) |
|
probably null |
Het |
| Zfp560 |
C |
A |
9: 20,260,240 (GRCm39) |
M207I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,335,617 (GRCm39) |
Y461H |
probably 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 |
|
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 |
|
|
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'- AATTTCCAGTGGACGCTCAACC -3'
(R):5'- ACCTTGGGAGTCACTGTGTC -3'
Sequencing Primer
(F):5'- ACCCCGGCCATGATGAATG -3'
(R):5'- ACGTCTACTACAGCTTTAAAGGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation