Incidental Mutation 'R1603:Aebp2'
| ID |
176249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aebp2
|
| Ensembl Gene |
ENSMUSG00000030232 |
| Gene Name |
AE binding protein 2 |
| Synonyms |
B230313N05Rik |
| MMRRC Submission |
039640-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1603 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
140568389-140624198 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140587979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 350
(N350D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032359]
[ENSMUST00000087614]
[ENSMUST00000095350]
[ENSMUST00000160836]
[ENSMUST00000161335]
|
| AlphaFold |
Q9Z248 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032359
AA Change: N128D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032359
Gene: ENSMUSG00000030232
AA Change: N128D
| 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 |
possibly damaging
Transcript: ENSMUST00000068583
AA Change: N149D
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000064302
Gene: ENSMUSG00000030232
AA Change: N149D
| 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: N350D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232
AA Change: N350D
| 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: N350D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232
AA Change: N350D
| 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 benign
Transcript: ENSMUST00000160836
AA Change: N128D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000124148
Gene: ENSMUSG00000030232
AA Change: N128D
| 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
AA Change: N128D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000125479
Gene: ENSMUSG00000030232
AA Change: N128D
| 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: N33D
|
| SMART Domains |
Protein: ENSMUSP00000123897
Gene: ENSMUSG00000030232
AA Change: N33D
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162100
|
| Meta Mutation Damage Score |
0.0763 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
96% (65/68) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
G |
A |
3: 68,777,546 (GRCm39) |
S169N |
probably benign |
Het |
| Ace |
T |
A |
11: 105,862,925 (GRCm39) |
S315R |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,333,767 (GRCm39) |
I1491V |
probably benign |
Het |
| Adrb2 |
A |
T |
18: 62,312,579 (GRCm39) |
M82K |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,268,899 (GRCm39) |
|
probably benign |
Het |
| Asap1 |
A |
T |
15: 64,001,106 (GRCm39) |
C492S |
probably damaging |
Het |
| Atp8b3 |
C |
A |
10: 80,361,619 (GRCm39) |
A768S |
probably benign |
Het |
| Chga |
T |
A |
12: 102,530,866 (GRCm39) |
|
probably null |
Het |
| Clca4b |
A |
G |
3: 144,627,780 (GRCm39) |
V397A |
probably benign |
Het |
| Cntnap5a |
A |
C |
1: 116,339,831 (GRCm39) |
T697P |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,520,244 (GRCm39) |
Q2810R |
probably damaging |
Het |
| Dchs1 |
G |
T |
7: 105,411,977 (GRCm39) |
R1380S |
probably benign |
Het |
| Dgkg |
T |
A |
16: 22,388,909 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
G |
A |
4: 127,089,021 (GRCm39) |
G206R |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,131 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,449,326 (GRCm39) |
I4243L |
probably benign |
Het |
| Eif1ad16 |
C |
A |
12: 87,985,134 (GRCm39) |
E136D |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,207,915 (GRCm39) |
P452H |
probably benign |
Het |
| Fgl1 |
T |
A |
8: 41,650,055 (GRCm39) |
D242V |
probably damaging |
Het |
| Gba2 |
C |
T |
4: 43,567,823 (GRCm39) |
G794R |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,700,864 (GRCm39) |
D150V |
probably damaging |
Het |
| Gm5334 |
T |
C |
7: 68,268,620 (GRCm39) |
V13A |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,057,800 (GRCm39) |
F167L |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,751,472 (GRCm39) |
L1538P |
probably benign |
Het |
| Idh2 |
T |
G |
7: 79,748,906 (GRCm39) |
E125A |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,752,858 (GRCm39) |
|
probably null |
Het |
| Kras |
A |
T |
6: 145,170,871 (GRCm39) |
L168* |
probably null |
Het |
| Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
| Mak |
T |
C |
13: 41,195,582 (GRCm39) |
D377G |
possibly damaging |
Het |
| Matn2 |
T |
C |
15: 34,388,914 (GRCm39) |
C335R |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,885,977 (GRCm39) |
S276F |
probably damaging |
Het |
| Morc3 |
C |
A |
16: 93,663,391 (GRCm39) |
N531K |
probably benign |
Het |
| Obp2a |
G |
A |
2: 25,592,757 (GRCm39) |
S175N |
probably benign |
Het |
| Or2ak6 |
T |
C |
11: 58,593,286 (GRCm39) |
V253A |
probably benign |
Het |
| Or4n4b |
T |
G |
14: 50,536,491 (GRCm39) |
I92L |
possibly damaging |
Het |
| Or5an1b |
A |
T |
19: 12,299,348 (GRCm39) |
V281E |
probably damaging |
Het |
| Osbpl3 |
C |
A |
6: 50,300,073 (GRCm39) |
K510N |
probably damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,566,365 (GRCm39) |
S1026F |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,167,514 (GRCm39) |
D595V |
probably damaging |
Het |
| Poteg |
T |
A |
8: 27,938,033 (GRCm39) |
M1K |
probably null |
Het |
| Rbl1 |
G |
A |
2: 157,017,579 (GRCm39) |
L547F |
possibly damaging |
Het |
| Rpap3 |
T |
C |
15: 97,599,002 (GRCm39) |
T82A |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,959 (GRCm39) |
D512N |
probably benign |
Het |
| Sgpl1 |
C |
T |
10: 60,941,230 (GRCm39) |
V294M |
possibly damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,040,674 (GRCm39) |
S526P |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,724,650 (GRCm39) |
R177W |
probably damaging |
Het |
| Tent2 |
G |
A |
13: 93,312,073 (GRCm39) |
A209V |
probably benign |
Het |
| Trim30b |
T |
G |
7: 104,015,019 (GRCm39) |
Q123P |
possibly damaging |
Het |
| Trpm5 |
A |
G |
7: 142,638,946 (GRCm39) |
L275P |
probably benign |
Het |
| Ttc33 |
A |
G |
15: 5,219,275 (GRCm39) |
E71G |
probably damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,481 (GRCm39) |
T288A |
possibly damaging |
Het |
| Unc93a |
T |
A |
17: 13,328,521 (GRCm39) |
E444V |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,038,535 (GRCm39) |
M1005K |
probably benign |
Het |
| Vmn2r91 |
T |
C |
17: 18,326,405 (GRCm39) |
I230T |
probably benign |
Het |
| Wdr49 |
G |
A |
3: 75,304,177 (GRCm39) |
Q448* |
probably null |
Het |
| Zfp939 |
T |
A |
7: 39,122,695 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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 |
|
|
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'- GCTTACCTGCTGAGACCATCCATGAC -3'
(R):5'- CGGCTAATTCCTAACTCCCAACACTTG -3'
Sequencing Primer
(F):5'- GAGACCATCCATGACCCACAC -3'
(R):5'- CAAGTTGTTTCACAGTTCACACAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation