Incidental Mutation 'R6983:Aebp2'
ID |
542784 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aebp2
|
Ensembl Gene |
ENSMUSG00000030232 |
Gene Name |
AE binding protein 2 |
Synonyms |
B230313N05Rik |
MMRRC Submission |
045090-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6983 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
140568389-140624198 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 140583389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 288
(F288L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032359]
[ENSMUST00000087614]
[ENSMUST00000095350]
[ENSMUST00000160836]
[ENSMUST00000161335]
|
AlphaFold |
Q9Z248 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032359
AA Change: F66L
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032359 Gene: ENSMUSG00000030232 AA Change: F66L
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: ENSMUST00000087614
AA Change: F288L
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000084896 Gene: ENSMUSG00000030232 AA Change: F288L
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 |
possibly damaging
Transcript: ENSMUST00000095350
AA Change: F288L
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000092993 Gene: ENSMUSG00000030232 AA Change: F288L
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 |
possibly damaging
Transcript: ENSMUST00000160836
AA Change: F66L
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000124148 Gene: ENSMUSG00000030232 AA Change: F66L
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: ENSMUST00000161335
AA Change: F66L
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000125479 Gene: ENSMUSG00000030232 AA Change: F66L
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 |
|
Meta Mutation Damage Score |
0.6484 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
98% (65/66) |
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 |
Abca15 |
T |
C |
7: 119,953,686 (GRCm39) |
V530A |
probably benign |
Het |
Adgrg6 |
T |
C |
10: 14,307,439 (GRCm39) |
N816D |
probably damaging |
Het |
Afdn |
T |
C |
17: 14,101,583 (GRCm39) |
S1024P |
probably damaging |
Het |
Akap6 |
A |
C |
12: 52,934,436 (GRCm39) |
K643Q |
probably damaging |
Het |
Atg2a |
A |
T |
19: 6,310,070 (GRCm39) |
D1751V |
probably damaging |
Het |
Best2 |
T |
A |
8: 85,736,405 (GRCm39) |
I253F |
probably benign |
Het |
Bmp1 |
G |
T |
14: 70,745,647 (GRCm39) |
P55T |
probably damaging |
Het |
C1s1 |
C |
A |
6: 124,517,855 (GRCm39) |
V42F |
possibly damaging |
Het |
Ccdc115 |
A |
G |
1: 34,478,122 (GRCm39) |
|
probably null |
Het |
Cdc42bpg |
C |
T |
19: 6,371,698 (GRCm39) |
P1326S |
probably damaging |
Het |
Cdhr3 |
G |
A |
12: 33,092,379 (GRCm39) |
T744I |
probably benign |
Het |
Cit |
T |
G |
5: 116,132,150 (GRCm39) |
L1745R |
probably damaging |
Het |
Commd6 |
A |
T |
14: 101,874,488 (GRCm39) |
S39T |
probably damaging |
Het |
Crot |
T |
G |
5: 9,028,280 (GRCm39) |
Y223S |
probably benign |
Het |
Crybg1 |
G |
T |
10: 43,875,338 (GRCm39) |
A590D |
probably damaging |
Het |
Cwf19l2 |
G |
A |
9: 3,477,817 (GRCm39) |
E841K |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,717,730 (GRCm39) |
Y576H |
probably damaging |
Het |
Diaph1 |
A |
T |
18: 38,022,822 (GRCm39) |
V749E |
probably damaging |
Het |
Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
F5 |
A |
T |
1: 164,021,698 (GRCm39) |
D1391V |
probably damaging |
Het |
Foxf2 |
T |
A |
13: 31,811,180 (GRCm39) |
M373K |
probably benign |
Het |
Fstl1 |
A |
T |
16: 37,651,980 (GRCm39) |
E287D |
probably benign |
Het |
Gltpd2 |
T |
C |
11: 70,411,110 (GRCm39) |
Y134H |
probably damaging |
Het |
Hemgn |
T |
A |
4: 46,395,997 (GRCm39) |
H413L |
possibly damaging |
Het |
Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
Hykk |
T |
C |
9: 54,853,793 (GRCm39) |
S372P |
probably benign |
Het |
Inava |
A |
G |
1: 136,147,894 (GRCm39) |
S353P |
possibly damaging |
Het |
Ints10 |
T |
C |
8: 69,246,703 (GRCm39) |
V11A |
probably damaging |
Het |
Khdrbs1 |
A |
G |
4: 129,614,635 (GRCm39) |
V306A |
probably benign |
Het |
Lamtor2 |
G |
A |
3: 88,460,146 (GRCm39) |
Q9* |
probably null |
Het |
Lonp2 |
T |
A |
8: 87,350,876 (GRCm39) |
V22E |
probably damaging |
Het |
Mad1l1 |
T |
C |
5: 140,179,739 (GRCm39) |
E383G |
probably damaging |
Het |
Man2b1 |
T |
A |
8: 85,817,700 (GRCm39) |
|
probably null |
Het |
Mtch1 |
T |
C |
17: 29,557,750 (GRCm39) |
I243V |
probably damaging |
Het |
Myo18a |
T |
A |
11: 77,736,341 (GRCm39) |
M1546K |
probably benign |
Het |
Ntf3 |
T |
C |
6: 126,078,808 (GRCm39) |
T233A |
probably damaging |
Het |
Omg |
T |
C |
11: 79,392,764 (GRCm39) |
S365G |
probably benign |
Het |
Or52ad1 |
C |
T |
7: 102,996,022 (GRCm39) |
V38I |
probably benign |
Het |
Otol1 |
T |
A |
3: 69,935,374 (GRCm39) |
N455K |
probably damaging |
Het |
Pakap |
T |
A |
4: 57,709,973 (GRCm39) |
V306D |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,625,552 (GRCm39) |
Y1349N |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,271,469 (GRCm39) |
L368P |
probably damaging |
Het |
Pnpla8 |
T |
A |
12: 44,330,030 (GRCm39) |
I194K |
possibly damaging |
Het |
Podn |
T |
C |
4: 107,881,470 (GRCm39) |
|
probably null |
Het |
Potefam1 |
A |
G |
2: 111,058,595 (GRCm39) |
|
probably null |
Het |
Pramel6 |
A |
T |
2: 87,339,923 (GRCm39) |
E229V |
possibly damaging |
Het |
Ptpro |
C |
T |
6: 137,426,915 (GRCm39) |
P262L |
probably damaging |
Het |
Rnf122 |
A |
T |
8: 31,608,488 (GRCm39) |
T19S |
probably benign |
Het |
Shank2 |
T |
A |
7: 143,635,585 (GRCm39) |
Y320N |
possibly damaging |
Het |
Slc2a9 |
A |
C |
5: 38,549,064 (GRCm39) |
I243S |
probably damaging |
Het |
Slc5a6 |
A |
T |
5: 31,197,749 (GRCm39) |
M130K |
probably benign |
Het |
Stx5a |
A |
G |
19: 8,732,533 (GRCm39) |
|
probably benign |
Het |
Tbr1 |
G |
T |
2: 61,642,079 (GRCm39) |
G185V |
probably damaging |
Het |
Tg |
A |
G |
15: 66,565,207 (GRCm39) |
D1183G |
probably benign |
Het |
Thbs1 |
A |
T |
2: 117,950,433 (GRCm39) |
I689F |
probably damaging |
Het |
Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
Trub2 |
A |
T |
2: 29,677,796 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,597,306 (GRCm39) |
V19869A |
probably damaging |
Het |
Tufm |
T |
C |
7: 126,088,607 (GRCm39) |
V303A |
possibly damaging |
Het |
Vezf1 |
T |
C |
11: 87,964,145 (GRCm39) |
I99T |
possibly damaging |
Het |
Vmn2r1 |
T |
C |
3: 63,989,118 (GRCm39) |
V19A |
probably benign |
Het |
Xpc |
C |
T |
6: 91,481,005 (GRCm39) |
R289K |
probably damaging |
Het |
Zfp811 |
T |
A |
17: 33,016,406 (GRCm39) |
K545* |
probably null |
Het |
Zmiz2 |
G |
A |
11: 6,352,413 (GRCm39) |
D623N |
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 |
|
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'- ATCCTCAGGAGTGTATTGGAGG -3'
(R):5'- AGAAGGCCCAAAGTATGCTC -3'
Sequencing Primer
(F):5'- TGTATTGGAGGGGAAAGGACC -3'
(R):5'- CAAGACTTTGAAGCCAGTTCGGTC -3'
|
Posted On |
2018-11-28 |