Incidental Mutation 'IGL00937:E130308A19Rik'
ID |
27262 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
E130308A19Rik
|
Ensembl Gene |
ENSMUSG00000045071 |
Gene Name |
RIKEN cDNA E130308A19 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.221)
|
Stock # |
IGL00937
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
59626116-59757649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 59690846 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 227
(A227T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052420]
[ENSMUST00000070150]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052420
AA Change: A227T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000062493 Gene: ENSMUSG00000045071 AA Change: A227T
Domain | Start | End | E-Value | Type |
low complexity region
|
130 |
141 |
N/A |
INTRINSIC |
low complexity region
|
364 |
387 |
N/A |
INTRINSIC |
Pfam:DUF3504
|
520 |
673 |
2.2e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070150
AA Change: A227T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000065702 Gene: ENSMUSG00000045071 AA Change: A227T
Domain | Start | End | E-Value | Type |
low complexity region
|
130 |
141 |
N/A |
INTRINSIC |
low complexity region
|
364 |
387 |
N/A |
INTRINSIC |
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
Pfam:DUF3504
|
532 |
687 |
4.5e-40 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152797
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cc2d2a |
A |
T |
5: 43,845,464 (GRCm39) |
|
probably null |
Het |
Cd34 |
A |
G |
1: 194,642,422 (GRCm39) |
E381G |
probably damaging |
Het |
Chka |
A |
G |
19: 3,942,189 (GRCm39) |
E381G |
probably benign |
Het |
Dennd1b |
T |
A |
1: 139,097,977 (GRCm39) |
C673S |
probably benign |
Het |
F13b |
T |
A |
1: 139,445,098 (GRCm39) |
|
probably benign |
Het |
Hipk3 |
T |
C |
2: 104,263,517 (GRCm39) |
N933D |
possibly damaging |
Het |
Mmp27 |
T |
C |
9: 7,578,900 (GRCm39) |
|
probably benign |
Het |
Nod1 |
C |
T |
6: 54,914,349 (GRCm39) |
V815I |
probably benign |
Het |
Or2a5 |
T |
A |
6: 42,873,568 (GRCm39) |
F61Y |
probably damaging |
Het |
Or2ag15 |
T |
A |
7: 106,340,364 (GRCm39) |
Y259F |
probably damaging |
Het |
Or3a1d |
C |
T |
11: 74,238,255 (GRCm39) |
V52I |
probably benign |
Het |
Or51ab3 |
C |
A |
7: 103,201,064 (GRCm39) |
A24E |
probably damaging |
Het |
Or51h1 |
T |
A |
7: 102,308,555 (GRCm39) |
S176T |
probably damaging |
Het |
Or52k2 |
T |
A |
7: 102,253,564 (GRCm39) |
M1K |
probably null |
Het |
Pms1 |
T |
A |
1: 53,314,410 (GRCm39) |
E45V |
possibly damaging |
Het |
Prkcsh |
T |
C |
9: 21,917,861 (GRCm39) |
S126P |
possibly damaging |
Het |
Pros1 |
A |
T |
16: 62,730,408 (GRCm39) |
L299F |
probably damaging |
Het |
Scrn1 |
A |
G |
6: 54,497,718 (GRCm39) |
I291T |
probably benign |
Het |
Slc15a2 |
A |
T |
16: 36,572,242 (GRCm39) |
Y676* |
probably null |
Het |
Tenm2 |
A |
C |
11: 35,915,450 (GRCm39) |
V2028G |
probably damaging |
Het |
Trpa1 |
T |
C |
1: 14,950,501 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in E130308A19Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00660:E130308A19Rik
|
APN |
4 |
59,737,743 (GRCm39) |
splice site |
probably benign |
|
IGL00672:E130308A19Rik
|
APN |
4 |
59,719,697 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01885:E130308A19Rik
|
APN |
4 |
59,720,004 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02638:E130308A19Rik
|
APN |
4 |
59,719,676 (GRCm39) |
nonsense |
probably null |
|
H8562:E130308A19Rik
|
UTSW |
4 |
59,691,033 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0044:E130308A19Rik
|
UTSW |
4 |
59,690,290 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0523:E130308A19Rik
|
UTSW |
4 |
59,719,716 (GRCm39) |
missense |
probably damaging |
0.98 |
R0788:E130308A19Rik
|
UTSW |
4 |
59,719,847 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1215:E130308A19Rik
|
UTSW |
4 |
59,690,743 (GRCm39) |
missense |
probably benign |
0.37 |
R1490:E130308A19Rik
|
UTSW |
4 |
59,719,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R2292:E130308A19Rik
|
UTSW |
4 |
59,690,579 (GRCm39) |
missense |
probably damaging |
0.99 |
R3907:E130308A19Rik
|
UTSW |
4 |
59,752,393 (GRCm39) |
missense |
probably benign |
0.14 |
R4288:E130308A19Rik
|
UTSW |
4 |
59,690,308 (GRCm39) |
missense |
probably benign |
0.33 |
R4780:E130308A19Rik
|
UTSW |
4 |
59,691,057 (GRCm39) |
missense |
probably benign |
0.01 |
R4781:E130308A19Rik
|
UTSW |
4 |
59,691,057 (GRCm39) |
missense |
probably benign |
0.01 |
R4834:E130308A19Rik
|
UTSW |
4 |
59,690,317 (GRCm39) |
nonsense |
probably null |
|
R4985:E130308A19Rik
|
UTSW |
4 |
59,691,017 (GRCm39) |
missense |
probably benign |
0.01 |
R6123:E130308A19Rik
|
UTSW |
4 |
59,737,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R6290:E130308A19Rik
|
UTSW |
4 |
59,691,332 (GRCm39) |
missense |
probably benign |
0.25 |
R6315:E130308A19Rik
|
UTSW |
4 |
59,691,132 (GRCm39) |
missense |
probably benign |
|
R6643:E130308A19Rik
|
UTSW |
4 |
59,720,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6763:E130308A19Rik
|
UTSW |
4 |
59,752,288 (GRCm39) |
missense |
probably damaging |
0.99 |
R6980:E130308A19Rik
|
UTSW |
4 |
59,719,991 (GRCm39) |
missense |
probably damaging |
0.97 |
R7036:E130308A19Rik
|
UTSW |
4 |
59,719,991 (GRCm39) |
missense |
probably damaging |
0.97 |
R7078:E130308A19Rik
|
UTSW |
4 |
59,737,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R7098:E130308A19Rik
|
UTSW |
4 |
59,753,004 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7171:E130308A19Rik
|
UTSW |
4 |
59,690,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R7247:E130308A19Rik
|
UTSW |
4 |
59,690,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R7366:E130308A19Rik
|
UTSW |
4 |
59,752,770 (GRCm39) |
missense |
probably damaging |
0.99 |
R7916:E130308A19Rik
|
UTSW |
4 |
59,719,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R8050:E130308A19Rik
|
UTSW |
4 |
59,719,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R8445:E130308A19Rik
|
UTSW |
4 |
59,720,526 (GRCm39) |
missense |
probably damaging |
0.99 |
R8795:E130308A19Rik
|
UTSW |
4 |
59,737,676 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9088:E130308A19Rik
|
UTSW |
4 |
59,737,594 (GRCm39) |
missense |
probably benign |
0.16 |
R9663:E130308A19Rik
|
UTSW |
4 |
59,719,764 (GRCm39) |
missense |
possibly damaging |
0.87 |
Z1176:E130308A19Rik
|
UTSW |
4 |
59,720,313 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:E130308A19Rik
|
UTSW |
4 |
59,720,223 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-04-17 |