Incidental Mutation 'IGL03025:4921509C19Rik'
ID |
408111 |
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 # |
IGL03025
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
151312462-151318073 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 151315405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 91
(N91S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080132]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080132
AA Change: N91S
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000079030 Gene: ENSMUSG00000061525 AA Change: N91S
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora1 |
T |
C |
1: 134,130,807 (GRCm39) |
Y288C |
probably damaging |
Het |
Avil |
A |
T |
10: 126,849,446 (GRCm39) |
T581S |
probably benign |
Het |
Cacna1h |
C |
T |
17: 25,651,868 (GRCm39) |
W92* |
probably null |
Het |
Calr3 |
A |
C |
8: 73,188,735 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
T |
C |
2: 120,561,222 (GRCm39) |
E181G |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
Cnga1 |
T |
A |
5: 72,762,756 (GRCm39) |
I253F |
probably benign |
Het |
Cngb3 |
T |
G |
4: 19,283,498 (GRCm39) |
|
probably benign |
Het |
Cstf3 |
T |
A |
2: 104,439,276 (GRCm39) |
Y30N |
possibly damaging |
Het |
Cyp2a12 |
T |
A |
7: 26,730,631 (GRCm39) |
S199T |
probably benign |
Het |
Dlg1 |
A |
G |
16: 31,624,545 (GRCm39) |
I412V |
probably benign |
Het |
Fasn |
C |
T |
11: 120,708,974 (GRCm39) |
V570M |
probably benign |
Het |
Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
Frmd5 |
T |
A |
2: 121,383,825 (GRCm39) |
M369L |
probably benign |
Het |
Ftdc2 |
A |
C |
16: 58,458,076 (GRCm39) |
I75S |
probably damaging |
Het |
Gatb |
T |
C |
3: 85,483,181 (GRCm39) |
W63R |
probably damaging |
Het |
Gga1 |
G |
T |
15: 78,772,382 (GRCm39) |
L227F |
probably damaging |
Het |
Itgb1 |
A |
G |
8: 129,449,065 (GRCm39) |
N557S |
possibly damaging |
Het |
Ltf |
T |
C |
9: 110,854,169 (GRCm39) |
V328A |
possibly damaging |
Het |
Nefh |
T |
C |
11: 4,895,289 (GRCm39) |
E300G |
probably damaging |
Het |
Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
Or1m1 |
T |
C |
9: 18,666,665 (GRCm39) |
N89D |
probably benign |
Het |
Pcdhb13 |
T |
G |
18: 37,575,817 (GRCm39) |
V65G |
probably damaging |
Het |
Pcdhb4 |
A |
T |
18: 37,443,030 (GRCm39) |
Y780F |
possibly damaging |
Het |
Plcd3 |
C |
T |
11: 102,965,724 (GRCm39) |
E503K |
probably benign |
Het |
Rbm6 |
T |
A |
9: 107,651,918 (GRCm39) |
D903V |
possibly damaging |
Het |
Rnf133 |
A |
G |
6: 23,649,134 (GRCm39) |
M265T |
probably benign |
Het |
Sbf1 |
T |
C |
15: 89,173,848 (GRCm39) |
T1775A |
probably damaging |
Het |
Serpina1f |
T |
A |
12: 103,659,805 (GRCm39) |
D159V |
probably damaging |
Het |
Skap1 |
C |
A |
11: 96,593,508 (GRCm39) |
S118R |
probably damaging |
Het |
Slc17a9 |
C |
A |
2: 180,381,609 (GRCm39) |
|
probably null |
Het |
Slc30a5 |
A |
G |
13: 100,950,395 (GRCm39) |
S231P |
probably damaging |
Het |
Stac2 |
A |
G |
11: 97,934,548 (GRCm39) |
F52S |
probably damaging |
Het |
Them7 |
T |
C |
2: 105,128,150 (GRCm39) |
S44P |
probably benign |
Het |
Tnmd |
A |
G |
X: 132,766,162 (GRCm39) |
|
probably benign |
Het |
Trdmt1 |
A |
T |
2: 13,528,246 (GRCm39) |
I105N |
probably damaging |
Het |
Trpc1 |
C |
T |
9: 95,592,313 (GRCm39) |
G554E |
probably damaging |
Het |
Vmn1r37 |
A |
G |
6: 66,708,740 (GRCm39) |
Y85C |
probably benign |
Het |
Zim1 |
T |
C |
7: 6,685,058 (GRCm39) |
T131A |
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 |
IGL02432:4921509C19Rik
|
APN |
2 |
151,314,481 (GRCm39) |
missense |
probably benign |
0.18 |
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 |
2016-08-02 |