Incidental Mutation 'IGL01935:Aebp2'
| ID |
180644 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aebp2
|
| Ensembl Gene |
ENSMUSG00000030232 |
| Gene Name |
AE binding protein 2 |
| Synonyms |
B230313N05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01935
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
140568389-140624198 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 140583383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000064302
Gene: ENSMUSG00000030232
| 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 |
probably benign
Transcript: ENSMUST00000087614
|
| SMART Domains |
Protein: ENSMUSP00000084896
Gene: ENSMUSG00000030232
| 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
|
| SMART Domains |
Protein: ENSMUSP00000092993
Gene: ENSMUSG00000030232
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204724
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
A |
T |
13: 4,322,244 (GRCm39) |
V266E |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,621,307 (GRCm39) |
T186A |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,366,638 (GRCm39) |
T801A |
probably benign |
Het |
| Card11 |
T |
A |
5: 140,869,301 (GRCm39) |
I832F |
possibly damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,895,296 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
G |
4: 45,906,889 (GRCm39) |
T455A |
possibly damaging |
Het |
| Cfhr1 |
T |
A |
1: 139,478,740 (GRCm39) |
Y210F |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,912,127 (GRCm39) |
V309A |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,345,521 (GRCm39) |
V609A |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,037,126 (GRCm39) |
D3372G |
probably benign |
Het |
| Dtymk |
T |
C |
1: 93,722,465 (GRCm39) |
K113E |
probably benign |
Het |
| Eef2k |
T |
C |
7: 120,485,054 (GRCm39) |
F307S |
probably damaging |
Het |
| Flnc |
T |
A |
6: 29,454,279 (GRCm39) |
V1864E |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,803,541 (GRCm39) |
Y2192C |
probably benign |
Het |
| Hkdc1 |
A |
T |
10: 62,236,165 (GRCm39) |
V459E |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,360,951 (GRCm39) |
D969G |
probably damaging |
Het |
| Irf3 |
A |
G |
7: 44,650,194 (GRCm39) |
T237A |
probably benign |
Het |
| Jade2 |
G |
A |
11: 51,719,211 (GRCm39) |
T245I |
possibly damaging |
Het |
| Kctd8 |
A |
G |
5: 69,497,707 (GRCm39) |
I313T |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,385,284 (GRCm39) |
S835R |
probably benign |
Het |
| Lama2 |
A |
C |
10: 27,298,600 (GRCm39) |
H165Q |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,158,367 (GRCm39) |
N1617Y |
probably damaging |
Het |
| Mcc |
C |
T |
18: 44,652,583 (GRCm39) |
|
probably null |
Het |
| Mfsd14b |
T |
A |
13: 65,215,739 (GRCm39) |
M405L |
probably benign |
Het |
| Myom3 |
T |
A |
4: 135,515,692 (GRCm39) |
F794I |
probably damaging |
Het |
| Napsa |
G |
T |
7: 44,236,046 (GRCm39) |
A362S |
probably benign |
Het |
| Ncf4 |
A |
T |
15: 78,140,186 (GRCm39) |
D195V |
probably damaging |
Het |
| Or11g1 |
T |
C |
14: 50,651,012 (GRCm39) |
F4L |
probably benign |
Het |
| Pank4 |
T |
G |
4: 155,063,987 (GRCm39) |
D659E |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 81,964,590 (GRCm39) |
D252E |
probably benign |
Het |
| Pglyrp2 |
G |
A |
17: 32,637,551 (GRCm39) |
A159V |
probably benign |
Het |
| Phaf1 |
T |
C |
8: 105,966,633 (GRCm39) |
F127L |
probably damaging |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Ppfia4 |
A |
G |
1: 134,245,674 (GRCm39) |
S627P |
probably benign |
Het |
| Ppp1r15b |
T |
C |
1: 133,059,761 (GRCm39) |
F93L |
probably benign |
Het |
| Pramel13 |
C |
T |
4: 144,119,172 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
A |
T |
3: 36,235,200 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
C |
A |
2: 72,064,467 (GRCm39) |
T623K |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,501,668 (GRCm39) |
T184A |
possibly damaging |
Het |
| Ssrp1 |
T |
C |
2: 84,877,056 (GRCm39) |
*709Q |
probably null |
Het |
| St7 |
T |
G |
6: 17,930,822 (GRCm39) |
I442S |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,972,087 (GRCm39) |
H992Q |
probably damaging |
Het |
| Syt14 |
T |
C |
1: 192,615,679 (GRCm39) |
R436G |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,270,793 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,317,418 (GRCm39) |
N1630I |
probably damaging |
Het |
| Tinagl1 |
T |
C |
4: 130,061,794 (GRCm39) |
K180R |
probably damaging |
Het |
| Tmed7 |
T |
C |
18: 46,730,190 (GRCm39) |
T54A |
probably benign |
Het |
| Tmprss2 |
A |
T |
16: 97,379,795 (GRCm39) |
Y48* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,020,069 (GRCm39) |
|
probably null |
Het |
| Unc13d |
T |
C |
11: 115,960,577 (GRCm39) |
M496V |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zbtb39 |
A |
G |
10: 127,578,235 (GRCm39) |
T270A |
probably benign |
Het |
| Zfr |
T |
C |
15: 12,180,798 (GRCm39) |
S976P |
probably benign |
Het |
| Zscan29 |
A |
G |
2: 121,000,538 (GRCm39) |
F23S |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation