Incidental Mutation 'R8540:Aebp2'
ID |
659362 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aebp2
|
Ensembl Gene |
ENSMUSG00000030232 |
Gene Name |
AE binding protein 2 |
Synonyms |
B230313N05Rik |
MMRRC Submission |
068506-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8540 (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 T
at 140579437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 225
(I225L)
|
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: I3L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000032359 Gene: ENSMUSG00000030232 AA Change: I3L
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: I225L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000084896 Gene: ENSMUSG00000030232 AA Change: I225L
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: I225L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000092993 Gene: ENSMUSG00000030232 AA Change: I225L
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: I3L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124148 Gene: ENSMUSG00000030232 AA Change: I3L
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: I3L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125479 Gene: ENSMUSG00000030232 AA Change: I3L
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (37/37) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap2a1 |
C |
A |
7: 44,553,750 (GRCm39) |
G566C |
probably damaging |
Het |
Cdk15 |
T |
C |
1: 59,349,992 (GRCm39) |
V328A |
possibly damaging |
Het |
Cyld |
G |
A |
8: 89,473,568 (GRCm39) |
G929D |
probably damaging |
Het |
Ddx50 |
G |
A |
10: 62,476,569 (GRCm39) |
L235F |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,208,767 (GRCm39) |
D813G |
probably damaging |
Het |
Epb41l3 |
C |
T |
17: 69,593,757 (GRCm39) |
T797M |
probably damaging |
Het |
Foxred2 |
G |
A |
15: 77,836,212 (GRCm39) |
R382W |
probably damaging |
Het |
Gm5798 |
T |
A |
14: 41,070,674 (GRCm39) |
I28N |
possibly damaging |
Het |
Grb14 |
C |
T |
2: 64,851,478 (GRCm39) |
V91M |
probably benign |
Het |
Ints6 |
T |
C |
14: 62,934,353 (GRCm39) |
D718G |
probably benign |
Het |
Man2a1 |
C |
A |
17: 64,965,982 (GRCm39) |
H307N |
probably benign |
Het |
Mylk |
T |
C |
16: 34,750,257 (GRCm39) |
Y1199H |
possibly damaging |
Het |
Nim1k |
T |
C |
13: 120,175,718 (GRCm39) |
S163G |
probably benign |
Het |
Or1r1 |
A |
G |
11: 73,875,153 (GRCm39) |
F94L |
probably damaging |
Het |
Or51f5 |
G |
C |
7: 102,424,339 (GRCm39) |
A203P |
possibly damaging |
Het |
Or5ac16 |
A |
T |
16: 59,022,323 (GRCm39) |
H155Q |
possibly damaging |
Het |
Or8h6 |
C |
A |
2: 86,703,776 (GRCm39) |
C97F |
probably damaging |
Het |
Phyhip |
A |
G |
14: 70,704,594 (GRCm39) |
D271G |
probably benign |
Het |
Pramel27 |
T |
A |
4: 143,579,496 (GRCm39) |
S360R |
probably benign |
Het |
Pycr2 |
G |
A |
1: 180,734,178 (GRCm39) |
A187T |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,630,367 (GRCm39) |
E2148V |
probably damaging |
Het |
Septin12 |
T |
C |
16: 4,805,481 (GRCm39) |
H304R |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Ssx2ip |
T |
C |
3: 146,124,114 (GRCm39) |
V43A |
probably benign |
Het |
Syne2 |
A |
T |
12: 76,141,148 (GRCm39) |
N6087Y |
probably damaging |
Het |
Tbc1d4 |
A |
T |
14: 101,845,712 (GRCm39) |
I62N |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,573,337 (GRCm39) |
G24106D |
probably damaging |
Het |
Uhrf1 |
T |
A |
17: 56,612,105 (GRCm39) |
I3N |
probably damaging |
Het |
Urgcp |
A |
C |
11: 5,667,915 (GRCm39) |
L141R |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,274,858 (GRCm39) |
R1777H |
probably benign |
Het |
Vamp3 |
A |
G |
4: 151,135,507 (GRCm39) |
V37A |
possibly damaging |
Het |
Vmn1r172 |
C |
T |
7: 23,359,498 (GRCm39) |
L128F |
possibly damaging |
Het |
Vmn1r76 |
A |
G |
7: 11,664,897 (GRCm39) |
Y71H |
probably damaging |
Het |
Vmn2r111 |
C |
T |
17: 22,778,023 (GRCm39) |
|
probably null |
Het |
Vmn2r111 |
T |
A |
17: 22,778,024 (GRCm39) |
N552Y |
probably damaging |
Het |
Vmn2r81 |
A |
T |
10: 79,129,065 (GRCm39) |
N652I |
probably damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,314,762 (GRCm39) |
N275D |
possibly damaging |
Het |
Wrn |
T |
A |
8: 33,842,154 (GRCm39) |
I47F |
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 |
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 |
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'- CACCCAGTTTTGTATTTGATCTTGAGG -3'
(R):5'- ACCATCGACATGTATGGAGC -3'
Sequencing Primer
(F):5'- GCCTTGTACTTTATTGCCAACTAATC -3'
(R):5'- CCATCGACATGTATGGAGCGAATG -3'
|
Posted On |
2021-01-18 |