Incidental Mutation 'R0590:AI661453'
ID |
55945 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AI661453
|
Ensembl Gene |
ENSMUSG00000034382 |
Gene Name |
expressed sequence AI661453 |
Synonyms |
|
MMRRC Submission |
038780-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R0590 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
47747564-47781563 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 47777999 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: E575G
|
SMART Domains |
Protein: ENSMUSP00000120133 Gene: ENSMUSG00000034382 AA Change: E575G
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 |
|
Meta Mutation Damage Score |
0.0743 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat2 |
C |
T |
4: 49,383,273 (GRCm39) |
M93I |
probably benign |
Het |
Adamts16 |
T |
C |
13: 70,949,073 (GRCm39) |
D196G |
probably benign |
Het |
Adhfe1 |
T |
A |
1: 9,618,378 (GRCm39) |
|
probably null |
Het |
Apc |
G |
T |
18: 34,449,283 (GRCm39) |
E2026* |
probably null |
Het |
Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
Cad |
T |
C |
5: 31,219,575 (GRCm39) |
S688P |
probably damaging |
Het |
Ccdc191 |
C |
T |
16: 43,751,704 (GRCm39) |
R345* |
probably null |
Het |
Dcaf13 |
T |
A |
15: 39,008,480 (GRCm39) |
|
probably benign |
Het |
Drc1 |
A |
G |
5: 30,520,480 (GRCm39) |
D607G |
probably benign |
Het |
Fhip1a |
T |
C |
3: 85,579,683 (GRCm39) |
R841G |
probably benign |
Het |
Gli1 |
G |
T |
10: 127,167,432 (GRCm39) |
A607E |
possibly damaging |
Het |
Gls |
G |
A |
1: 52,251,534 (GRCm39) |
|
probably benign |
Het |
Gria1 |
A |
T |
11: 57,180,235 (GRCm39) |
Q728H |
probably damaging |
Het |
Hcrtr1 |
A |
G |
4: 130,029,487 (GRCm39) |
L198P |
probably damaging |
Het |
Ifngr1 |
T |
A |
10: 19,479,690 (GRCm39) |
|
probably benign |
Het |
Ipo5 |
T |
C |
14: 121,181,769 (GRCm39) |
V954A |
possibly damaging |
Het |
Kcnh5 |
G |
T |
12: 75,012,035 (GRCm39) |
A628D |
probably damaging |
Het |
Kif14 |
T |
C |
1: 136,410,210 (GRCm39) |
S646P |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,935,966 (GRCm39) |
S133P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,027,302 (GRCm39) |
M7143V |
probably damaging |
Het |
Nelfa |
G |
A |
5: 34,059,169 (GRCm39) |
P229S |
probably damaging |
Het |
Nfatc2 |
T |
C |
2: 168,413,119 (GRCm39) |
T169A |
probably damaging |
Het |
Nr1h4 |
A |
G |
10: 89,292,429 (GRCm39) |
Y398H |
probably damaging |
Het |
Nrcam |
A |
G |
12: 44,610,815 (GRCm39) |
E511G |
probably damaging |
Het |
Ocstamp |
T |
A |
2: 165,239,671 (GRCm39) |
R172W |
probably damaging |
Het |
Or10ag60 |
A |
G |
2: 87,438,338 (GRCm39) |
E202G |
probably damaging |
Het |
Or8d1 |
T |
A |
9: 38,766,766 (GRCm39) |
M136K |
probably damaging |
Het |
Or8g19 |
T |
C |
9: 39,056,017 (GRCm39) |
V207A |
probably benign |
Het |
Phf14 |
G |
A |
6: 11,961,577 (GRCm39) |
V405I |
possibly damaging |
Het |
Plk5 |
G |
A |
10: 80,196,057 (GRCm39) |
R238H |
probably damaging |
Het |
Pole |
A |
G |
5: 110,465,792 (GRCm39) |
E1240G |
probably benign |
Het |
Prdm15 |
A |
G |
16: 97,598,961 (GRCm39) |
I899T |
possibly damaging |
Het |
Psip1 |
T |
C |
4: 83,376,381 (GRCm39) |
N486S |
probably benign |
Het |
Rlf |
A |
G |
4: 121,028,030 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 88,997,759 (GRCm39) |
S255P |
probably damaging |
Het |
Rusf1 |
A |
G |
7: 127,896,642 (GRCm39) |
L134P |
probably damaging |
Het |
Sema6c |
A |
G |
3: 95,079,934 (GRCm39) |
K711E |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,021,237 (GRCm39) |
|
probably benign |
Het |
Trim36 |
T |
G |
18: 46,305,643 (GRCm39) |
S435R |
probably benign |
Het |
Ucp1 |
A |
G |
8: 84,018,232 (GRCm39) |
|
probably benign |
Het |
Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
Vmn1r23 |
A |
G |
6: 57,903,349 (GRCm39) |
V143A |
probably benign |
Het |
Wdfy4 |
T |
A |
14: 32,763,131 (GRCm39) |
Q2166L |
probably benign |
Het |
Zc3h7b |
C |
T |
15: 81,661,199 (GRCm39) |
T346M |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,467,693 (GRCm39) |
V2617D |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTATTCCTGAGAAGAGCCCCTCC -3'
(R):5'- GAGTGGTAAAGTTAGCCCAGGTGTG -3'
Sequencing Primer
(F):5'- GAAGAGCCCCTCCAGCAG -3'
(R):5'- CTTAGGTAGTATGGCCTGCCC -3'
|
Posted On |
2013-07-11 |