Incidental Mutation 'R7259:Aebp2'
ID |
564480 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aebp2
|
Ensembl Gene |
ENSMUSG00000030232 |
Gene Name |
AE binding protein 2 |
Synonyms |
B230313N05Rik |
MMRRC Submission |
045351-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7259 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
140568389-140624198 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 140579494 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 244
(S244G)
|
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
AA Change: S22G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000032359 Gene: ENSMUSG00000030232 AA Change: S22G
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: ENSMUST00000087614
AA Change: S244G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000084896 Gene: ENSMUSG00000030232 AA Change: S244G
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 benign
Transcript: ENSMUST00000095350
AA Change: S244G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000092993 Gene: ENSMUSG00000030232 AA Change: S244G
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
AA Change: S22G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124148 Gene: ENSMUSG00000030232 AA Change: S22G
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: S22G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125479 Gene: ENSMUSG00000030232 AA Change: S22G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (64/64) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
A |
G |
13: 8,620,288 (GRCm39) |
Y258C |
probably benign |
Het |
Agl |
A |
T |
3: 116,578,230 (GRCm39) |
Y495N |
probably damaging |
Het |
Arhgap33 |
A |
G |
7: 30,231,625 (GRCm39) |
V120A |
probably damaging |
Het |
Asb14 |
C |
T |
14: 26,625,412 (GRCm39) |
H256Y |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,604,132 (GRCm39) |
Y434H |
probably benign |
Het |
Atrnl1 |
C |
T |
19: 57,924,038 (GRCm39) |
R1268* |
probably null |
Het |
AW554918 |
A |
G |
18: 25,422,906 (GRCm39) |
|
probably null |
Het |
Canx |
A |
G |
11: 50,192,643 (GRCm39) |
W324R |
probably damaging |
Het |
Col9a1 |
A |
G |
1: 24,224,424 (GRCm39) |
E202G |
unknown |
Het |
Crh |
C |
A |
3: 19,748,418 (GRCm39) |
A75S |
possibly damaging |
Het |
Ctnnal1 |
T |
A |
4: 56,817,299 (GRCm39) |
|
probably null |
Het |
Dmrta2 |
T |
A |
4: 109,839,104 (GRCm39) |
S284T |
possibly damaging |
Het |
Dock1 |
T |
C |
7: 134,384,477 (GRCm39) |
V680A |
probably damaging |
Het |
Duox2 |
G |
A |
2: 122,125,657 (GRCm39) |
R317C |
probably damaging |
Het |
Elmod2 |
A |
G |
8: 84,048,138 (GRCm39) |
L108P |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,825,792 (GRCm39) |
S540P |
probably benign |
Het |
Fsip2 |
C |
T |
2: 82,812,474 (GRCm39) |
A2931V |
possibly damaging |
Het |
Gipc2 |
A |
T |
3: 151,833,693 (GRCm39) |
I196K |
probably damaging |
Het |
Gli2 |
A |
G |
1: 118,764,264 (GRCm39) |
S1296P |
probably benign |
Het |
Gm21103 |
T |
A |
14: 17,482,882 (GRCm39) |
Q173L |
probably damaging |
Het |
Gpatch1 |
A |
T |
7: 34,986,546 (GRCm39) |
|
probably null |
Het |
Grm8 |
G |
A |
6: 27,760,175 (GRCm39) |
T385I |
probably null |
Het |
Gtf2f1 |
C |
A |
17: 57,311,562 (GRCm39) |
D283Y |
probably damaging |
Het |
Hcar1 |
T |
A |
5: 124,017,275 (GRCm39) |
T139S |
possibly damaging |
Het |
Hcrtr1 |
T |
A |
4: 130,029,611 (GRCm39) |
T157S |
possibly damaging |
Het |
Htra2 |
T |
G |
6: 83,028,520 (GRCm39) |
Q436P |
possibly damaging |
Het |
Igkv1-133 |
A |
G |
6: 67,702,522 (GRCm39) |
D80G |
probably benign |
Het |
Il21 |
C |
A |
3: 37,281,803 (GRCm39) |
|
probably null |
Het |
Inpp5f |
T |
A |
7: 128,271,681 (GRCm39) |
C359S |
probably benign |
Het |
Itgb6 |
A |
T |
2: 60,480,355 (GRCm39) |
I327N |
probably damaging |
Het |
Itgbl1 |
A |
T |
14: 124,081,316 (GRCm39) |
T232S |
probably damaging |
Het |
Kif1a |
T |
A |
1: 93,001,532 (GRCm39) |
K266* |
probably null |
Het |
Mcm10 |
C |
A |
2: 5,011,328 (GRCm39) |
E214D |
probably benign |
Het |
Mefv |
T |
A |
16: 3,530,917 (GRCm39) |
I522F |
probably damaging |
Het |
Naaladl2 |
T |
A |
3: 24,112,340 (GRCm39) |
I581F |
possibly damaging |
Het |
Naip6 |
A |
T |
13: 100,440,863 (GRCm39) |
Y306N |
probably damaging |
Het |
Opn1sw |
T |
A |
6: 29,378,911 (GRCm39) |
H247L |
probably benign |
Het |
Or4c119 |
A |
C |
2: 88,986,854 (GRCm39) |
F222V |
probably benign |
Het |
Or51v15-ps1 |
A |
T |
7: 103,278,966 (GRCm39) |
M67K |
probably damaging |
Het |
Or5k1b |
T |
C |
16: 58,580,868 (GRCm39) |
T224A |
possibly damaging |
Het |
Or6c68 |
T |
A |
10: 129,157,663 (GRCm39) |
M57K |
probably benign |
Het |
Pbxip1 |
C |
A |
3: 89,352,940 (GRCm39) |
F195L |
probably benign |
Het |
Pcdh12 |
A |
T |
18: 38,414,677 (GRCm39) |
F816Y |
probably benign |
Het |
Pi4k2b |
C |
A |
5: 52,910,587 (GRCm39) |
N290K |
probably damaging |
Het |
Pias2 |
T |
C |
18: 77,240,416 (GRCm39) |
S598P |
possibly damaging |
Het |
Ppfia4 |
A |
G |
1: 134,240,838 (GRCm39) |
V835A |
probably damaging |
Het |
Ptch1 |
T |
C |
13: 63,721,108 (GRCm39) |
K54E |
not run |
Het |
Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
Scg2 |
T |
C |
1: 79,414,702 (GRCm39) |
Y7C |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,331,604 (GRCm39) |
V137A |
probably benign |
Het |
Setdb1 |
G |
A |
3: 95,247,224 (GRCm39) |
T525I |
probably benign |
Het |
Sgcg |
A |
T |
14: 61,462,666 (GRCm39) |
I227N |
probably benign |
Het |
Slc35e4 |
A |
T |
11: 3,862,530 (GRCm39) |
|
probably null |
Het |
Smarca2 |
C |
T |
19: 26,631,864 (GRCm39) |
Q560* |
probably null |
Het |
Stk10 |
A |
G |
11: 32,548,497 (GRCm39) |
N355S |
probably benign |
Het |
Supt6 |
A |
T |
11: 78,098,442 (GRCm39) |
D1716E |
probably damaging |
Het |
Taok3 |
C |
T |
5: 117,390,608 (GRCm39) |
A523V |
probably benign |
Het |
Tekt3 |
A |
G |
11: 62,974,592 (GRCm39) |
T304A |
possibly damaging |
Het |
Ttc6 |
G |
T |
12: 57,622,970 (GRCm39) |
R123L |
probably benign |
Het |
Tyw1 |
T |
A |
5: 130,296,713 (GRCm39) |
|
probably null |
Het |
Ulk2 |
A |
G |
11: 61,672,909 (GRCm39) |
L895P |
probably damaging |
Het |
Unc13c |
A |
T |
9: 73,424,645 (GRCm39) |
N1990K |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wipf1 |
A |
G |
2: 73,265,425 (GRCm39) |
S393P |
probably damaging |
Het |
Yju2b |
T |
C |
8: 84,986,946 (GRCm39) |
S184G |
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 |
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 |
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'- AAGGAGCAGAATGTTGGATGTATTC -3'
(R):5'- AGAGGGAAATTCACCAATTCCTCTC -3'
Sequencing Primer
(F):5'- AGCAGTACGCTAATGGAC -3'
(R):5'- GAAATTCACCAATTCCTCTCATGAAG -3'
|
Posted On |
2019-06-26 |