Incidental Mutation 'R8258:Aebp2'
| ID |
640066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aebp2
|
| Ensembl Gene |
ENSMUSG00000030232 |
| Gene Name |
AE binding protein 2 |
| Synonyms |
B230313N05Rik |
| MMRRC Submission |
067684-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8258 (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 140583453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 309
(Q309L)
|
| 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: Q87L
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032359
Gene: ENSMUSG00000030232
AA Change: Q87L
| 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 |
noncoding transcript
Transcript: ENSMUST00000068583
AA Change: Q108L
|
| SMART Domains |
Protein: ENSMUSP00000064302
Gene: ENSMUSG00000030232
AA Change: Q108L
| 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 |
possibly damaging
Transcript: ENSMUST00000087614
AA Change: Q309L
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232
AA Change: Q309L
| 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: Q309L
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232
AA Change: Q309L
| 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: Q87L
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000124148
Gene: ENSMUSG00000030232
AA Change: Q87L
| 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: Q87L
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000125479
Gene: ENSMUSG00000030232
AA Change: Q87L
| 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: 99.2%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
T |
G |
17: 84,983,523 (GRCm39) |
T144P |
possibly damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,628,417 (GRCm39) |
N263S |
probably null |
Het |
| Akap7 |
A |
G |
10: 25,047,054 (GRCm39) |
Y281H |
probably damaging |
Het |
| Atg2a |
G |
A |
19: 6,299,859 (GRCm39) |
A588T |
probably damaging |
Het |
| Calcoco1 |
T |
C |
15: 102,624,228 (GRCm39) |
D236G |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,208,077 (GRCm39) |
D470E |
probably benign |
Het |
| Capn8 |
G |
T |
1: 182,392,698 (GRCm39) |
V25L |
probably benign |
Het |
| Card10 |
A |
G |
15: 78,660,884 (GRCm39) |
V1041A |
probably damaging |
Het |
| Ccr1 |
T |
A |
9: 123,764,119 (GRCm39) |
H137L |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,151,435 (GRCm39) |
D2483E |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,085,532 (GRCm39) |
Q1701K |
probably benign |
Het |
| Cimap2 |
C |
T |
4: 106,448,859 (GRCm39) |
G400S |
probably damaging |
Het |
| Ckmt2 |
T |
A |
13: 92,007,335 (GRCm39) |
R286S |
probably damaging |
Het |
| Cyp27a1 |
A |
T |
1: 74,771,214 (GRCm39) |
D133V |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eml1 |
A |
T |
12: 108,476,458 (GRCm39) |
I283F |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,901,887 (GRCm39) |
V3046A |
possibly damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,063,763 (GRCm39) |
V3A |
probably benign |
Het |
| Fcgr2b |
A |
G |
1: 170,795,702 (GRCm39) |
S76P |
possibly damaging |
Het |
| Fgg |
C |
T |
3: 82,917,477 (GRCm39) |
Q169* |
probably null |
Het |
| Ggt5 |
G |
A |
10: 75,450,666 (GRCm39) |
V558I |
probably benign |
Het |
| Gm4779 |
G |
C |
X: 100,837,390 (GRCm39) |
T171S |
possibly damaging |
Het |
| Incenp |
A |
G |
19: 9,870,993 (GRCm39) |
L212P |
unknown |
Het |
| Incenp |
G |
C |
19: 9,871,005 (GRCm39) |
T208R |
unknown |
Het |
| Mctp1 |
T |
A |
13: 76,949,666 (GRCm39) |
|
probably null |
Het |
| Megf8 |
T |
C |
7: 25,057,848 (GRCm39) |
M2095T |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,941,391 (GRCm39) |
V308I |
probably benign |
Het |
| Muc1 |
T |
A |
3: 89,139,341 (GRCm39) |
H580Q |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,452,920 (GRCm39) |
M47K |
probably benign |
Het |
| Nrxn1 |
C |
A |
17: 90,471,249 (GRCm39) |
R1260L |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,100,815 (GRCm39) |
I202V |
possibly damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,847 (GRCm39) |
L130P |
probably damaging |
Het |
| Or5ac17 |
T |
C |
16: 59,036,458 (GRCm39) |
I173V |
probably benign |
Het |
| Or5b98 |
T |
C |
19: 12,931,727 (GRCm39) |
M258T |
possibly damaging |
Het |
| Pard3 |
G |
A |
8: 128,098,021 (GRCm39) |
W354* |
probably null |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,166,677 (GRCm39) |
V417A |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,189,672 (GRCm39) |
R3052G |
unknown |
Het |
| Prx |
T |
C |
7: 27,218,808 (GRCm39) |
L1242P |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,707,633 (GRCm39) |
I183T |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,291,755 (GRCm39) |
E254G |
probably benign |
Het |
| Rhot2 |
C |
A |
17: 26,058,864 (GRCm39) |
R512L |
probably benign |
Het |
| Rpa1 |
T |
C |
11: 75,193,550 (GRCm39) |
N594D |
probably benign |
Het |
| Rxfp2 |
T |
A |
5: 149,983,365 (GRCm39) |
I300K |
probably damaging |
Het |
| Scarf1 |
T |
A |
11: 75,414,689 (GRCm39) |
S486T |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,220,928 (GRCm39) |
V455A |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,148,653 (GRCm39) |
V686A |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,721,562 (GRCm39) |
E1206G |
probably benign |
Het |
| Syne2 |
C |
A |
12: 75,996,143 (GRCm39) |
Q2228K |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,517,198 (GRCm39) |
G1430S |
probably damaging |
Het |
| Tlr12 |
C |
A |
4: 128,511,492 (GRCm39) |
A253S |
probably benign |
Het |
| Trpm1 |
G |
A |
7: 63,918,777 (GRCm39) |
A1590T |
probably benign |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,686 (GRCm39) |
M144K |
probably benign |
Het |
| Wee2 |
A |
G |
6: 40,421,114 (GRCm39) |
D68G |
probably benign |
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 |
|
|
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'- TCATTGAGTGCACAGTGTTTATCAG -3'
(R):5'- TTAGAAGGCCCAAAGTATGCTC -3'
Sequencing Primer
(F):5'- ACGAGGATCCAAAGTCTT -3'
(R):5'- TATGGTGGCTCAACCTGAAATGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation