Incidental Mutation 'R9133:Aebp2'
ID |
693776 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aebp2
|
Ensembl Gene |
ENSMUSG00000030232 |
Gene Name |
AE binding protein 2 |
Synonyms |
B230313N05Rik |
MMRRC Submission |
068930-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9133 (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 140579441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 226
(D226G)
|
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: D4G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000032359 Gene: ENSMUSG00000030232 AA Change: D4G
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 damaging
Transcript: ENSMUST00000087614
AA Change: D226G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000084896 Gene: ENSMUSG00000030232 AA Change: D226G
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: D226G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092993 Gene: ENSMUSG00000030232 AA Change: D226G
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: D4G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124148 Gene: ENSMUSG00000030232 AA Change: D4G
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: D4G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125479 Gene: ENSMUSG00000030232 AA Change: D4G
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 |
0.1197 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (65/65) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat3 |
T |
A |
17: 13,159,176 (GRCm39) |
R4S |
probably benign |
Het |
Adamdec1 |
A |
T |
14: 68,814,547 (GRCm39) |
C143* |
probably null |
Het |
Adck5 |
A |
G |
15: 76,460,612 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
A |
G |
10: 50,630,175 (GRCm39) |
I1755V |
possibly damaging |
Het |
Aspm |
C |
T |
1: 139,419,266 (GRCm39) |
T2977M |
probably damaging |
Het |
Cacna1a |
A |
G |
8: 85,276,152 (GRCm39) |
S582G |
probably damaging |
Het |
Card14 |
T |
C |
11: 119,231,835 (GRCm39) |
F801S |
probably damaging |
Het |
Casp16 |
T |
A |
17: 23,771,003 (GRCm39) |
D134V |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,234,108 (GRCm39) |
S327P |
possibly damaging |
Het |
Cutc |
A |
T |
19: 43,755,727 (GRCm39) |
D229V |
possibly damaging |
Het |
Cyp21a1 |
C |
A |
17: 35,023,419 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,859,423 (GRCm39) |
K2130R |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,234,904 (GRCm39) |
S250N |
probably benign |
Het |
Edc4 |
T |
C |
8: 106,611,778 (GRCm39) |
|
probably null |
Het |
Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
Ehmt1 |
A |
T |
2: 24,729,635 (GRCm39) |
I642K |
possibly damaging |
Het |
Gjd2 |
T |
C |
2: 113,842,039 (GRCm39) |
Q146R |
probably benign |
Het |
Gm26661 |
A |
G |
14: 7,791,936 (GRCm38) |
H117R |
unknown |
Het |
H2-Oa |
T |
A |
17: 34,313,505 (GRCm39) |
D185E |
probably damaging |
Het |
Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
Hyal6 |
A |
G |
6: 24,734,585 (GRCm39) |
R173G |
possibly damaging |
Het |
Ica1 |
A |
T |
6: 8,659,921 (GRCm39) |
V125D |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,442,867 (GRCm39) |
T140A |
probably benign |
Het |
Ighv9-4 |
T |
A |
12: 114,263,883 (GRCm39) |
I17F |
probably benign |
Het |
Igkv4-92 |
G |
T |
6: 68,732,248 (GRCm39) |
T42N |
probably damaging |
Het |
Kctd16 |
C |
A |
18: 40,392,069 (GRCm39) |
P219Q |
probably damaging |
Het |
Kdm5b |
A |
T |
1: 134,530,323 (GRCm39) |
I445F |
probably benign |
Het |
Ksr2 |
A |
G |
5: 117,841,319 (GRCm39) |
T598A |
probably benign |
Het |
Lrrn1 |
C |
T |
6: 107,544,568 (GRCm39) |
T122I |
probably damaging |
Het |
Mars2 |
A |
G |
1: 55,276,721 (GRCm39) |
D108G |
possibly damaging |
Het |
Ms4a14 |
A |
G |
19: 11,281,038 (GRCm39) |
W507R |
|
Het |
Ncoa3 |
A |
G |
2: 165,910,381 (GRCm39) |
T1266A |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,083,256 (GRCm39) |
K5650E |
possibly damaging |
Het |
Nlrp4f |
T |
A |
13: 65,332,883 (GRCm39) |
K92* |
probably null |
Het |
Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
Nova1 |
G |
T |
12: 46,865,524 (GRCm39) |
A4E |
unknown |
Het |
Nphs1 |
G |
T |
7: 30,160,092 (GRCm39) |
E124* |
probably null |
Het |
Or10d4 |
T |
A |
9: 39,580,974 (GRCm39) |
I207N |
possibly damaging |
Het |
Or10d4b |
T |
A |
9: 39,534,809 (GRCm39) |
L128* |
probably null |
Het |
Or5d14 |
T |
C |
2: 87,880,782 (GRCm39) |
Y62C |
probably damaging |
Het |
Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,313,050 (GRCm39) |
S1257P |
probably damaging |
Het |
Ranbp3 |
T |
C |
17: 57,003,791 (GRCm39) |
|
probably null |
Het |
Rasgrf1 |
A |
G |
9: 89,793,600 (GRCm39) |
T126A |
probably benign |
Het |
Rexo5 |
T |
G |
7: 119,444,667 (GRCm39) |
L714R |
probably damaging |
Het |
Rhobtb3 |
A |
G |
13: 76,020,512 (GRCm39) |
Y597H |
probably damaging |
Het |
Riox1 |
C |
G |
12: 83,998,221 (GRCm39) |
Y252* |
probably null |
Het |
Sh2d3c |
T |
C |
2: 32,634,778 (GRCm39) |
Y186H |
possibly damaging |
Het |
Slc16a7 |
T |
A |
10: 125,066,536 (GRCm39) |
T368S |
probably benign |
Het |
Slc25a26 |
G |
A |
6: 94,511,143 (GRCm39) |
V107I |
|
Het |
Slc4a5 |
A |
T |
6: 83,203,217 (GRCm39) |
Y39F |
possibly damaging |
Het |
Smarcad1 |
A |
G |
6: 65,049,035 (GRCm39) |
K254E |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,434,747 (GRCm39) |
V1080L |
possibly damaging |
Het |
Thsd7b |
A |
T |
1: 129,843,382 (GRCm39) |
T865S |
probably benign |
Het |
Top1 |
C |
T |
2: 160,545,591 (GRCm39) |
Q320* |
probably null |
Het |
Trank1 |
T |
A |
9: 111,220,770 (GRCm39) |
N2502K |
possibly damaging |
Het |
Urad |
T |
C |
5: 147,252,251 (GRCm39) |
H67R |
probably damaging |
Het |
Vamp5 |
A |
C |
6: 72,357,362 (GRCm39) |
|
probably null |
Het |
Vmn1r62 |
A |
G |
7: 5,679,062 (GRCm39) |
I248V |
probably benign |
Het |
Wwc2 |
G |
T |
8: 48,305,007 (GRCm39) |
Q873K |
unknown |
Het |
Zcchc2 |
C |
A |
1: 105,958,535 (GRCm39) |
S1002Y |
probably damaging |
Het |
Zdhhc14 |
G |
A |
17: 5,803,283 (GRCm39) |
R462H |
probably benign |
Het |
Zfp788 |
A |
G |
7: 41,299,484 (GRCm39) |
N707D |
|
Het |
Zfp964 |
A |
G |
8: 70,115,783 (GRCm39) |
T128A |
probably benign |
Het |
Zkscan16 |
T |
C |
4: 58,957,722 (GRCm39) |
L668S |
possibly 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 |
R8540:Aebp2
|
UTSW |
6 |
140,579,437 (GRCm39) |
missense |
probably benign |
0.02 |
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'- CCAGTTTTGTATTTGATCTTGAGGCAC -3'
(R):5'- GACCATCGACATGTATGGAGC -3'
Sequencing Primer
(F):5'- CTTTATTGCCAACTAATCTCAAAGC -3'
(R):5'- CCATCGACATGTATGGAGCGAATG -3'
|
Posted On |
2022-01-20 |