Incidental Mutation 'R5761:Aebp2'
| ID |
445297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aebp2
|
| Ensembl Gene |
ENSMUSG00000030232 |
| Gene Name |
AE binding protein 2 |
| Synonyms |
B230313N05Rik |
| MMRRC Submission |
043363-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5761 (G1)
|
| Quality Score |
124 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
140568389-140624198 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 140569943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032359]
[ENSMUST00000087614]
[ENSMUST00000095350]
[ENSMUST00000160836]
[ENSMUST00000161335]
|
| AlphaFold |
Q9Z248 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032359
|
| SMART Domains |
Protein: ENSMUSP00000032359
Gene: ENSMUSG00000030232
| 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 |
unknown
Transcript: ENSMUST00000087614
AA Change: S175P
|
| SMART Domains |
Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232
AA Change: S175P
| 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 |
unknown
Transcript: ENSMUST00000095350
AA Change: S175P
|
| SMART Domains |
Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232
AA Change: S175P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000124148
Gene: ENSMUSG00000030232
| 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
|
| SMART Domains |
Protein: ENSMUSP00000125479
Gene: ENSMUSG00000030232
| 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: ENSMUST00000204392
|
| Meta Mutation Damage Score |
0.0857 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,100,927 (GRCm39) |
V953D |
probably damaging |
Het |
| Abcb8 |
T |
C |
5: 24,610,879 (GRCm39) |
|
probably benign |
Het |
| Acad12 |
A |
T |
5: 121,742,243 (GRCm39) |
|
probably benign |
Het |
| Adam2 |
A |
T |
14: 66,283,595 (GRCm39) |
C436S |
probably damaging |
Het |
| Akap8 |
A |
T |
17: 32,536,159 (GRCm39) |
C85S |
possibly damaging |
Het |
| Aldh1a3 |
C |
A |
7: 66,068,927 (GRCm39) |
R19L |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,955,559 (GRCm39) |
T848A |
possibly damaging |
Het |
| Bud13 |
C |
T |
9: 46,199,350 (GRCm39) |
A237V |
probably benign |
Het |
| Cbarp |
CGCCTCTGCTGCCTCT |
CGCCTCT |
10: 79,968,067 (GRCm39) |
|
probably benign |
Het |
| Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
| Ccz1 |
C |
T |
5: 143,929,328 (GRCm39) |
G367R |
probably damaging |
Het |
| Cep104 |
T |
C |
4: 154,065,681 (GRCm39) |
V56A |
possibly damaging |
Het |
| Chd6 |
C |
A |
2: 160,798,998 (GRCm39) |
R2362S |
probably damaging |
Het |
| Chd6 |
C |
T |
2: 160,798,999 (GRCm39) |
R2362K |
probably damaging |
Het |
| Cmc1 |
T |
C |
9: 117,944,443 (GRCm39) |
E25G |
probably benign |
Het |
| Cntnap5b |
T |
C |
1: 100,374,619 (GRCm39) |
S1123P |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,693,778 (GRCm39) |
L66* |
probably null |
Het |
| Crmp1 |
A |
G |
5: 37,440,212 (GRCm39) |
T329A |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp3a16 |
A |
G |
5: 145,378,843 (GRCm39) |
S393P |
possibly damaging |
Het |
| Cyp4f18 |
T |
A |
8: 72,749,975 (GRCm39) |
I225F |
probably damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,231,726 (GRCm39) |
V432A |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,853,131 (GRCm39) |
I401M |
probably damaging |
Het |
| Foxq1 |
G |
A |
13: 31,743,314 (GRCm39) |
A139T |
probably damaging |
Het |
| Gm10428 |
G |
T |
11: 62,644,169 (GRCm39) |
|
probably benign |
Het |
| Gpr89 |
A |
G |
3: 96,800,196 (GRCm39) |
L134P |
probably damaging |
Het |
| Hjv |
T |
C |
3: 96,435,938 (GRCm39) |
S399P |
probably benign |
Het |
| Hrc |
A |
T |
7: 44,986,025 (GRCm39) |
|
probably null |
Het |
| Igf1r |
T |
A |
7: 67,857,001 (GRCm39) |
Y988N |
probably damaging |
Het |
| Igf2r |
A |
C |
17: 12,917,239 (GRCm39) |
|
probably null |
Het |
| Itga2b |
A |
G |
11: 102,357,100 (GRCm39) |
F260S |
probably benign |
Het |
| Kif2a |
T |
A |
13: 107,098,672 (GRCm39) |
N698I |
probably benign |
Het |
| Lap3 |
A |
C |
5: 45,662,147 (GRCm39) |
I316L |
probably benign |
Het |
| Map2k6 |
T |
G |
11: 110,290,197 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
T |
A |
13: 113,054,196 (GRCm39) |
I146F |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,110,078 (GRCm39) |
E1422G |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,250,061 (GRCm39) |
V1081A |
probably benign |
Het |
| Nom1 |
A |
G |
5: 29,642,639 (GRCm39) |
E380G |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,882,573 (GRCm39) |
Y75F |
probably damaging |
Het |
| Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
| Or51a24 |
G |
A |
7: 103,733,376 (GRCm39) |
R304W |
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,866,301 (GRCm39) |
V518A |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,981,279 (GRCm39) |
M521V |
probably benign |
Het |
| Qsox1 |
T |
A |
1: 155,655,274 (GRCm39) |
M630L |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,648,032 (GRCm39) |
L299P |
probably damaging |
Het |
| St6gal1 |
T |
G |
16: 23,139,805 (GRCm39) |
|
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 13,984,283 (GRCm39) |
Y149C |
probably damaging |
Het |
| Tlr3 |
G |
A |
8: 45,855,808 (GRCm39) |
T124M |
probably benign |
Het |
| Tmem171 |
A |
G |
13: 98,829,019 (GRCm39) |
Y44H |
probably damaging |
Het |
| Usp35 |
C |
T |
7: 96,961,558 (GRCm39) |
V623I |
probably benign |
Het |
| Vangl2 |
T |
A |
1: 171,833,694 (GRCm39) |
H463L |
probably damaging |
Het |
| Vmn1r175 |
A |
C |
7: 23,507,905 (GRCm39) |
L241V |
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,338 (GRCm39) |
K297I |
unknown |
Het |
| Vmn2r23 |
C |
A |
6: 123,689,718 (GRCm39) |
T198K |
probably benign |
Het |
| Vmn2r-ps69 |
T |
A |
7: 84,953,223 (GRCm39) |
|
noncoding transcript |
Het |
| Xirp2 |
A |
G |
2: 67,341,311 (GRCm39) |
Y1184C |
probably benign |
Het |
| Ythdc1 |
A |
G |
5: 86,983,810 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
C |
T |
10: 127,578,515 (GRCm39) |
A363V |
probably damaging |
Het |
| Zmiz1 |
T |
A |
14: 25,651,728 (GRCm39) |
I527K |
possibly damaging |
Het |
| Zmiz1 |
C |
A |
14: 25,651,730 (GRCm39) |
P534T |
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 |
|
|
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 |
|
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'- AGACCATGTCGGAGCCGA -3'
(R):5'- GGAAGAAGTCCCCTGAGTCCC -3'
Sequencing Primer
(F):5'- AGAGCAGCGCCGAGAGC -3'
(R):5'- TGAGTCCCCCTCGTCGAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation