Incidental Mutation 'IGL01758:AI661453'
| ID |
153479 |
| 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 # |
IGL01758
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
47747564-47781563 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 47777548 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: F425I
|
| SMART Domains |
Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382
AA Change: F425I
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,901,645 (GRCm39) |
D860G |
possibly damaging |
Het |
| Acot7 |
T |
C |
4: 152,302,250 (GRCm39) |
C121R |
probably damaging |
Het |
| Adam19 |
A |
T |
11: 46,003,751 (GRCm39) |
H193L |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,983,953 (GRCm39) |
|
probably benign |
Het |
| Brd4 |
T |
C |
17: 32,431,803 (GRCm39) |
|
probably benign |
Het |
| Capn12 |
G |
A |
7: 28,586,048 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
A |
G |
15: 23,474,269 (GRCm39) |
Q713R |
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,844,406 (GRCm39) |
L103Q |
possibly damaging |
Het |
| Dpy19l4 |
T |
A |
4: 11,265,846 (GRCm39) |
T475S |
probably damaging |
Het |
| Dync2i1 |
G |
A |
12: 116,182,418 (GRCm39) |
P728L |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,187,035 (GRCm39) |
D1270E |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,052,659 (GRCm39) |
K275E |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,438,058 (GRCm39) |
D426G |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,243,059 (GRCm39) |
S62P |
probably damaging |
Het |
| Or13f5 |
G |
T |
4: 52,825,468 (GRCm39) |
E24* |
probably null |
Het |
| Or8b50 |
T |
A |
9: 38,518,589 (GRCm39) |
I276K |
probably damaging |
Het |
| Ptgs2 |
A |
T |
1: 149,977,740 (GRCm39) |
|
probably null |
Het |
| Rxfp1 |
T |
A |
3: 79,559,523 (GRCm39) |
I433F |
possibly damaging |
Het |
| Sbf1 |
C |
T |
15: 89,187,418 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
T |
G |
1: 106,928,484 (GRCm39) |
F368C |
probably damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,361,824 (GRCm39) |
S80R |
probably damaging |
Het |
| Spats2l |
G |
T |
1: 57,918,715 (GRCm39) |
V30L |
probably damaging |
Het |
| Stat1 |
A |
G |
1: 52,176,080 (GRCm39) |
E195G |
probably damaging |
Het |
| Tbx5 |
T |
A |
5: 119,983,023 (GRCm39) |
|
probably benign |
Het |
| Tmem165 |
A |
G |
5: 76,352,010 (GRCm39) |
T164A |
probably damaging |
Het |
| Trim66 |
A |
T |
7: 109,085,252 (GRCm39) |
|
probably null |
Het |
| Trip10 |
T |
A |
17: 57,568,409 (GRCm39) |
V405E |
possibly damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,372,275 (GRCm39) |
C28* |
probably null |
Het |
| Zbtb8a |
C |
T |
4: 129,251,640 (GRCm39) |
C277Y |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,956,508 (GRCm39) |
F1705S |
probably damaging |
Het |
|
| Other mutations in AI661453 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01995:AI661453
|
APN |
17 |
47,779,442 (GRCm39) |
intron |
probably benign |
|
|
IGL02171:AI661453
|
APN |
17 |
47,777,921 (GRCm39) |
intron |
probably benign |
|
|
IGL02411:AI661453
|
APN |
17 |
47,778,263 (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 |
2014-02-04 |
Incidental Mutation