Incidental Mutation 'IGL02432:4921509C19Rik'
ID |
293155 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
4921509C19Rik
|
Ensembl Gene |
ENSMUSG00000061525 |
Gene Name |
RIKEN cDNA 4921509C19 gene |
Synonyms |
LOC381389 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02432
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
151312462-151318073 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 151314481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 399
(T399M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080132]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080132
AA Change: T399M
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000079030 Gene: ENSMUSG00000061525 AA Change: T399M
Domain | Start | End | E-Value | Type |
S_TKc
|
24 |
271 |
2.18e-97 |
SMART |
low complexity region
|
430 |
447 |
N/A |
INTRINSIC |
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155885
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
T |
1: 11,818,303 (GRCm39) |
N321I |
probably damaging |
Het |
Aimp1 |
T |
C |
3: 132,379,738 (GRCm39) |
T135A |
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,576,589 (GRCm39) |
M848T |
probably damaging |
Het |
Cry2 |
T |
C |
2: 92,244,012 (GRCm39) |
D387G |
probably damaging |
Het |
Daxx |
G |
A |
17: 34,131,311 (GRCm39) |
D413N |
probably benign |
Het |
Gbp6 |
A |
T |
5: 105,422,228 (GRCm39) |
V492E |
probably benign |
Het |
Itpr2 |
T |
A |
6: 146,226,671 (GRCm39) |
M1358L |
probably benign |
Het |
Med13l |
T |
A |
5: 118,876,465 (GRCm39) |
D880E |
possibly damaging |
Het |
Mmd2 |
A |
T |
5: 142,561,094 (GRCm39) |
I47N |
probably damaging |
Het |
Mroh2b |
G |
A |
15: 4,943,668 (GRCm39) |
M401I |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,088,668 (GRCm39) |
K963R |
probably benign |
Het |
Otop2 |
A |
G |
11: 115,219,988 (GRCm39) |
H276R |
probably damaging |
Het |
Pxn |
T |
A |
5: 115,683,805 (GRCm39) |
D79E |
probably damaging |
Het |
Rho |
G |
A |
6: 115,909,146 (GRCm39) |
V61I |
probably damaging |
Het |
Rtp1 |
A |
G |
16: 23,250,154 (GRCm39) |
Y173C |
probably damaging |
Het |
Slc6a17 |
T |
C |
3: 107,400,493 (GRCm39) |
D212G |
possibly damaging |
Het |
Stpg1 |
A |
G |
4: 135,235,321 (GRCm39) |
E54G |
probably damaging |
Het |
Tas2r119 |
A |
G |
15: 32,177,853 (GRCm39) |
T140A |
probably benign |
Het |
Traf3ip3 |
C |
T |
1: 192,866,884 (GRCm39) |
C316Y |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,371,101 (GRCm39) |
A517T |
probably damaging |
Het |
Vmn1r30 |
T |
C |
6: 58,412,655 (GRCm39) |
N59S |
probably benign |
Het |
Vmn2r4 |
C |
T |
3: 64,313,821 (GRCm39) |
V387M |
probably benign |
Het |
|
Other mutations in 4921509C19Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01098:4921509C19Rik
|
APN |
2 |
151,315,453 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02117:4921509C19Rik
|
APN |
2 |
151,315,466 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03025:4921509C19Rik
|
APN |
2 |
151,315,405 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0321:4921509C19Rik
|
UTSW |
2 |
151,314,620 (GRCm39) |
missense |
probably benign |
0.01 |
R0961:4921509C19Rik
|
UTSW |
2 |
151,314,686 (GRCm39) |
missense |
probably benign |
0.01 |
R1272:4921509C19Rik
|
UTSW |
2 |
151,313,977 (GRCm39) |
missense |
probably damaging |
0.98 |
R1455:4921509C19Rik
|
UTSW |
2 |
151,314,824 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3177:4921509C19Rik
|
UTSW |
2 |
151,314,020 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3277:4921509C19Rik
|
UTSW |
2 |
151,314,020 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4206:4921509C19Rik
|
UTSW |
2 |
151,315,435 (GRCm39) |
missense |
probably benign |
0.44 |
R4655:4921509C19Rik
|
UTSW |
2 |
151,314,778 (GRCm39) |
missense |
probably benign |
0.03 |
R4680:4921509C19Rik
|
UTSW |
2 |
151,315,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R4684:4921509C19Rik
|
UTSW |
2 |
151,313,791 (GRCm39) |
missense |
unknown |
|
R4702:4921509C19Rik
|
UTSW |
2 |
151,314,509 (GRCm39) |
missense |
probably benign |
0.00 |
R4867:4921509C19Rik
|
UTSW |
2 |
151,314,742 (GRCm39) |
nonsense |
probably null |
|
R4962:4921509C19Rik
|
UTSW |
2 |
151,314,728 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5117:4921509C19Rik
|
UTSW |
2 |
151,314,460 (GRCm39) |
missense |
probably benign |
0.00 |
R5484:4921509C19Rik
|
UTSW |
2 |
151,313,851 (GRCm39) |
missense |
probably benign |
|
R5602:4921509C19Rik
|
UTSW |
2 |
151,315,459 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6374:4921509C19Rik
|
UTSW |
2 |
151,314,800 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6894:4921509C19Rik
|
UTSW |
2 |
151,315,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R7079:4921509C19Rik
|
UTSW |
2 |
151,315,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R7109:4921509C19Rik
|
UTSW |
2 |
151,315,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R7155:4921509C19Rik
|
UTSW |
2 |
151,315,489 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7441:4921509C19Rik
|
UTSW |
2 |
151,314,845 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7845:4921509C19Rik
|
UTSW |
2 |
151,314,229 (GRCm39) |
missense |
probably damaging |
0.96 |
R7853:4921509C19Rik
|
UTSW |
2 |
151,315,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R8773:4921509C19Rik
|
UTSW |
2 |
151,314,062 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8805:4921509C19Rik
|
UTSW |
2 |
151,313,285 (GRCm39) |
splice site |
probably benign |
|
R8983:4921509C19Rik
|
UTSW |
2 |
151,313,272 (GRCm39) |
missense |
unknown |
|
R9257:4921509C19Rik
|
UTSW |
2 |
151,315,627 (GRCm39) |
missense |
probably benign |
0.05 |
R9566:4921509C19Rik
|
UTSW |
2 |
151,314,226 (GRCm39) |
missense |
probably benign |
0.13 |
|
Posted On |
2015-04-16 |