Incidental Mutation 'IGL02411:AI661453'
ID |
292300 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
AI661453
|
Ensembl Gene |
ENSMUSG00000034382 |
Gene Name |
expressed sequence AI661453 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
IGL02411
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
47747564-47781563 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to G
at 47778263 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045345
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037701]
[ENSMUST00000150819]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037701
|
SMART Domains |
Protein: ENSMUSP00000045345 Gene: ENSMUSG00000034382
Domain | Start | End | E-Value | Type |
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
low complexity region
|
157 |
180 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000150819
AA Change: L663R
|
SMART Domains |
Protein: ENSMUSP00000120133 Gene: ENSMUSG00000034382 AA Change: L663R
Domain | Start | End | E-Value | Type |
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
low complexity region
|
157 |
237 |
N/A |
INTRINSIC |
low complexity region
|
294 |
312 |
N/A |
INTRINSIC |
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
low complexity region
|
354 |
364 |
N/A |
INTRINSIC |
low complexity region
|
384 |
423 |
N/A |
INTRINSIC |
low complexity region
|
429 |
444 |
N/A |
INTRINSIC |
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
low complexity region
|
612 |
627 |
N/A |
INTRINSIC |
internal_repeat_1
|
628 |
654 |
6.24e-9 |
PROSPERO |
low complexity region
|
656 |
671 |
N/A |
INTRINSIC |
internal_repeat_1
|
688 |
714 |
6.24e-9 |
PROSPERO |
low complexity region
|
853 |
863 |
N/A |
INTRINSIC |
low complexity region
|
976 |
1016 |
N/A |
INTRINSIC |
low complexity region
|
1147 |
1154 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
A |
G |
5: 64,055,459 (GRCm39) |
E65G |
probably benign |
Het |
Abcc8 |
G |
A |
7: 45,756,431 (GRCm39) |
R1425C |
probably damaging |
Het |
Adcy3 |
A |
T |
12: 4,259,407 (GRCm39) |
|
probably null |
Het |
Arhgef10 |
A |
T |
8: 15,004,819 (GRCm39) |
Y445F |
probably benign |
Het |
Atrx |
G |
T |
X: 104,874,587 (GRCm39) |
S1924R |
possibly damaging |
Het |
Clca3a1 |
T |
C |
3: 144,733,763 (GRCm39) |
T58A |
possibly damaging |
Het |
Clec1b |
A |
G |
6: 129,378,804 (GRCm39) |
Y97C |
probably damaging |
Het |
Cobll1 |
A |
G |
2: 64,928,084 (GRCm39) |
S1080P |
probably damaging |
Het |
Crb1 |
C |
A |
1: 139,176,213 (GRCm39) |
C529F |
probably damaging |
Het |
Crim1 |
C |
T |
17: 78,642,763 (GRCm39) |
R494* |
probably null |
Het |
Cyp3a25 |
A |
T |
5: 145,938,257 (GRCm39) |
|
probably benign |
Het |
Dntt |
T |
A |
19: 41,041,424 (GRCm39) |
|
probably null |
Het |
Gjb1 |
T |
C |
X: 100,428,611 (GRCm39) |
C280R |
probably damaging |
Het |
Glp1r |
T |
A |
17: 31,143,485 (GRCm39) |
C174S |
probably damaging |
Het |
Gm5414 |
A |
T |
15: 101,536,269 (GRCm39) |
Y119N |
probably benign |
Het |
Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
Gm9796 |
G |
T |
11: 95,588,756 (GRCm39) |
|
noncoding transcript |
Het |
Gm9956 |
T |
C |
10: 56,621,388 (GRCm39) |
F17L |
unknown |
Het |
Il1rap |
A |
T |
16: 26,529,366 (GRCm39) |
D396V |
probably damaging |
Het |
Impa1 |
T |
C |
3: 10,388,018 (GRCm39) |
K135E |
possibly damaging |
Het |
Iqub |
G |
A |
6: 24,449,810 (GRCm39) |
A685V |
probably damaging |
Het |
Jade3 |
T |
C |
X: 20,379,063 (GRCm39) |
V512A |
probably benign |
Het |
Kif3a |
C |
A |
11: 53,461,525 (GRCm39) |
P57T |
probably damaging |
Het |
Kndc1 |
G |
T |
7: 139,501,829 (GRCm39) |
|
probably null |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Maged2 |
G |
T |
X: 149,592,755 (GRCm39) |
D343E |
probably benign |
Het |
Magi2 |
T |
C |
5: 19,883,707 (GRCm39) |
S120P |
probably damaging |
Het |
Nxph3 |
A |
T |
11: 95,401,656 (GRCm39) |
*253R |
probably null |
Het |
Oog2 |
A |
T |
4: 143,921,618 (GRCm39) |
H194L |
probably damaging |
Het |
Pcbd2 |
T |
G |
13: 55,880,764 (GRCm39) |
W7G |
probably benign |
Het |
Pcdhb14 |
T |
G |
18: 37,582,823 (GRCm39) |
L643R |
possibly damaging |
Het |
Plch1 |
G |
T |
3: 63,605,177 (GRCm39) |
|
probably null |
Het |
Poln |
G |
T |
5: 34,270,666 (GRCm39) |
S455* |
probably null |
Het |
Ppp2r1a |
T |
C |
17: 21,171,596 (GRCm39) |
|
probably benign |
Het |
Rsu1 |
T |
G |
2: 13,082,308 (GRCm39) |
|
probably benign |
Het |
Serpina10 |
A |
T |
12: 103,583,202 (GRCm39) |
M360K |
possibly damaging |
Het |
Sox30 |
A |
T |
11: 45,871,951 (GRCm39) |
K269* |
probably null |
Het |
Thbs1 |
T |
C |
2: 117,945,451 (GRCm39) |
V310A |
probably benign |
Het |
Tie1 |
C |
A |
4: 118,343,760 (GRCm39) |
E61* |
probably null |
Het |
Tm2d1 |
G |
T |
4: 98,268,911 (GRCm39) |
P62Q |
probably damaging |
Het |
Tpp1 |
G |
T |
7: 105,398,826 (GRCm39) |
P201Q |
probably damaging |
Het |
Trim13 |
A |
G |
14: 61,842,598 (GRCm39) |
E205G |
probably damaging |
Het |
|
Other mutations in AI661453 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01758:AI661453
|
APN |
17 |
47,777,548 (GRCm39) |
intron |
probably benign |
|
IGL01995:AI661453
|
APN |
17 |
47,779,442 (GRCm39) |
intron |
probably benign |
|
IGL02171:AI661453
|
APN |
17 |
47,777,921 (GRCm39) |
intron |
probably benign |
|
IGL02422:AI661453
|
APN |
17 |
47,778,017 (GRCm39) |
intron |
probably benign |
|
IGL02609:AI661453
|
APN |
17 |
47,779,297 (GRCm39) |
intron |
probably benign |
|
IGL02888:AI661453
|
APN |
17 |
47,778,329 (GRCm39) |
intron |
probably benign |
|
IGL03024:AI661453
|
APN |
17 |
47,757,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R0077:AI661453
|
UTSW |
17 |
47,780,287 (GRCm39) |
intron |
probably benign |
|
R0092:AI661453
|
UTSW |
17 |
47,778,440 (GRCm39) |
intron |
probably benign |
|
R0144:AI661453
|
UTSW |
17 |
47,780,224 (GRCm39) |
intron |
probably benign |
|
R0330:AI661453
|
UTSW |
17 |
47,757,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R0590:AI661453
|
UTSW |
17 |
47,777,999 (GRCm39) |
intron |
probably benign |
|
R0839:AI661453
|
UTSW |
17 |
47,747,752 (GRCm39) |
missense |
probably null |
0.97 |
R1350:AI661453
|
UTSW |
17 |
47,778,853 (GRCm39) |
nonsense |
probably null |
|
R1436:AI661453
|
UTSW |
17 |
47,777,627 (GRCm39) |
intron |
probably benign |
|
R1439:AI661453
|
UTSW |
17 |
47,777,587 (GRCm39) |
intron |
probably benign |
|
R1643:AI661453
|
UTSW |
17 |
47,778,791 (GRCm39) |
intron |
probably benign |
|
R1994:AI661453
|
UTSW |
17 |
47,777,959 (GRCm39) |
intron |
probably benign |
|
R2145:AI661453
|
UTSW |
17 |
47,777,023 (GRCm39) |
intron |
probably benign |
|
R2986:AI661453
|
UTSW |
17 |
47,777,697 (GRCm39) |
nonsense |
probably null |
|
R4398:AI661453
|
UTSW |
17 |
47,779,042 (GRCm39) |
intron |
probably benign |
|
R4809:AI661453
|
UTSW |
17 |
47,778,112 (GRCm39) |
intron |
probably benign |
|
R4913:AI661453
|
UTSW |
17 |
47,779,480 (GRCm39) |
nonsense |
probably null |
|
R4972:AI661453
|
UTSW |
17 |
47,777,324 (GRCm39) |
intron |
probably benign |
|
R6430:AI661453
|
UTSW |
17 |
47,777,722 (GRCm39) |
intron |
probably benign |
|
R6687:AI661453
|
UTSW |
17 |
47,777,927 (GRCm39) |
intron |
probably benign |
|
R7494:AI661453
|
UTSW |
17 |
47,779,105 (GRCm39) |
missense |
unknown |
|
R7598:AI661453
|
UTSW |
17 |
47,777,045 (GRCm39) |
missense |
unknown |
|
R7635:AI661453
|
UTSW |
17 |
47,778,676 (GRCm39) |
missense |
unknown |
|
R7753:AI661453
|
UTSW |
17 |
47,778,439 (GRCm39) |
nonsense |
probably null |
|
R7920:AI661453
|
UTSW |
17 |
47,779,331 (GRCm39) |
missense |
unknown |
|
R7974:AI661453
|
UTSW |
17 |
47,777,006 (GRCm39) |
missense |
unknown |
|
R8022:AI661453
|
UTSW |
17 |
47,777,161 (GRCm39) |
missense |
unknown |
|
R8489:AI661453
|
UTSW |
17 |
47,777,254 (GRCm39) |
intron |
probably benign |
|
R8771:AI661453
|
UTSW |
17 |
47,777,683 (GRCm39) |
missense |
unknown |
|
R9316:AI661453
|
UTSW |
17 |
47,747,832 (GRCm39) |
missense |
probably benign |
0.05 |
R9596:AI661453
|
UTSW |
17 |
47,780,411 (GRCm39) |
missense |
unknown |
|
R9743:AI661453
|
UTSW |
17 |
47,780,240 (GRCm39) |
missense |
unknown |
|
R9766:AI661453
|
UTSW |
17 |
47,757,570 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2015-04-16 |