Incidental Mutation 'IGL01772:1810065E05Rik'
ID |
153685 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1810065E05Rik
|
Ensembl Gene |
ENSMUSG00000013653 |
Gene Name |
RIKEN cDNA 1810065E05 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
IGL01772
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
58311937-58316849 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 58313710 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 113
(P113S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000013797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013797]
|
AlphaFold |
Q5NC41 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000013797
AA Change: P113S
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000013797 Gene: ENSMUSG00000013653 AA Change: P113S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
low complexity region
|
222 |
235 |
N/A |
INTRINSIC |
|
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 |
Ano2 |
T |
C |
6: 126,013,821 (GRCm39) |
Y881H |
probably damaging |
Het |
Coro2b |
G |
T |
9: 62,333,090 (GRCm39) |
P131T |
probably damaging |
Het |
Glra3 |
A |
G |
8: 56,542,090 (GRCm39) |
I278V |
probably benign |
Het |
Grin2d |
T |
C |
7: 45,507,890 (GRCm39) |
D392G |
probably benign |
Het |
Ifrd2 |
A |
G |
9: 107,469,331 (GRCm39) |
S360G |
probably benign |
Het |
Kdelr3 |
A |
T |
15: 79,407,121 (GRCm39) |
|
probably benign |
Het |
Mtdh |
T |
A |
15: 34,140,027 (GRCm39) |
S345R |
probably damaging |
Het |
Mtrex |
A |
G |
13: 113,027,859 (GRCm39) |
F667S |
probably benign |
Het |
Ncor1 |
G |
A |
11: 62,240,173 (GRCm39) |
|
probably benign |
Het |
Nf1 |
T |
A |
11: 79,281,075 (GRCm39) |
V110D |
probably damaging |
Het |
Nlk |
T |
A |
11: 78,480,201 (GRCm39) |
H256L |
probably damaging |
Het |
Or52w1 |
A |
T |
7: 105,017,641 (GRCm39) |
D36V |
probably benign |
Het |
Or52z13 |
T |
A |
7: 103,247,120 (GRCm39) |
I199N |
probably benign |
Het |
Or8c16 |
A |
T |
9: 38,130,905 (GRCm39) |
Y262F |
probably damaging |
Het |
Pgr |
T |
C |
9: 8,946,637 (GRCm39) |
|
probably benign |
Het |
Ptprn |
A |
G |
1: 75,228,914 (GRCm39) |
Y834H |
probably damaging |
Het |
Rbfox3 |
G |
T |
11: 118,387,797 (GRCm39) |
A241E |
probably damaging |
Het |
Tarbp1 |
G |
A |
8: 127,173,970 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,598,055 (GRCm39) |
D19619E |
probably damaging |
Het |
Unc13d |
C |
A |
11: 115,967,358 (GRCm39) |
E45D |
possibly damaging |
Het |
Vil1 |
A |
G |
1: 74,454,278 (GRCm39) |
I14V |
probably benign |
Het |
|
Other mutations in 1810065E05Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0060:1810065E05Rik
|
UTSW |
11 |
58,313,008 (GRCm39) |
splice site |
probably benign |
|
R0060:1810065E05Rik
|
UTSW |
11 |
58,313,008 (GRCm39) |
splice site |
probably benign |
|
R2141:1810065E05Rik
|
UTSW |
11 |
58,314,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R2156:1810065E05Rik
|
UTSW |
11 |
58,313,134 (GRCm39) |
critical splice donor site |
probably null |
|
R4925:1810065E05Rik
|
UTSW |
11 |
58,316,540 (GRCm39) |
nonsense |
probably null |
|
R5010:1810065E05Rik
|
UTSW |
11 |
58,313,630 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5716:1810065E05Rik
|
UTSW |
11 |
58,312,594 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6026:1810065E05Rik
|
UTSW |
11 |
58,316,581 (GRCm39) |
missense |
probably benign |
0.06 |
R7110:1810065E05Rik
|
UTSW |
11 |
58,316,571 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7282:1810065E05Rik
|
UTSW |
11 |
58,316,582 (GRCm39) |
missense |
probably damaging |
0.98 |
R7703:1810065E05Rik
|
UTSW |
11 |
58,316,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R8682:1810065E05Rik
|
UTSW |
11 |
58,314,725 (GRCm39) |
missense |
probably null |
1.00 |
R9514:1810065E05Rik
|
UTSW |
11 |
58,312,533 (GRCm39) |
missense |
probably benign |
0.04 |
Z1186:1810065E05Rik
|
UTSW |
11 |
58,316,625 (GRCm39) |
missense |
probably benign |
0.05 |
Z1186:1810065E05Rik
|
UTSW |
11 |
58,313,060 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1186:1810065E05Rik
|
UTSW |
11 |
58,313,027 (GRCm39) |
missense |
probably benign |
0.00 |
Z1187:1810065E05Rik
|
UTSW |
11 |
58,316,625 (GRCm39) |
missense |
probably benign |
0.05 |
Z1187:1810065E05Rik
|
UTSW |
11 |
58,313,060 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1187:1810065E05Rik
|
UTSW |
11 |
58,313,027 (GRCm39) |
missense |
probably benign |
0.00 |
Z1188:1810065E05Rik
|
UTSW |
11 |
58,316,625 (GRCm39) |
missense |
probably benign |
0.05 |
Z1188:1810065E05Rik
|
UTSW |
11 |
58,313,060 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1188:1810065E05Rik
|
UTSW |
11 |
58,313,027 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:1810065E05Rik
|
UTSW |
11 |
58,316,625 (GRCm39) |
missense |
probably benign |
0.05 |
Z1189:1810065E05Rik
|
UTSW |
11 |
58,313,060 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1189:1810065E05Rik
|
UTSW |
11 |
58,313,027 (GRCm39) |
missense |
probably benign |
0.00 |
Z1190:1810065E05Rik
|
UTSW |
11 |
58,316,625 (GRCm39) |
missense |
probably benign |
0.05 |
Z1190:1810065E05Rik
|
UTSW |
11 |
58,313,060 (GRCm39) |
missense |
probably benign |
0.30 |
Z1190:1810065E05Rik
|
UTSW |
11 |
58,313,027 (GRCm39) |
missense |
probably benign |
0.00 |
Z1191:1810065E05Rik
|
UTSW |
11 |
58,316,625 (GRCm39) |
missense |
probably benign |
0.05 |
Z1191:1810065E05Rik
|
UTSW |
11 |
58,313,060 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1191:1810065E05Rik
|
UTSW |
11 |
58,313,027 (GRCm39) |
missense |
probably benign |
0.00 |
Z1192:1810065E05Rik
|
UTSW |
11 |
58,316,625 (GRCm39) |
missense |
probably benign |
0.05 |
Z1192:1810065E05Rik
|
UTSW |
11 |
58,313,060 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1192:1810065E05Rik
|
UTSW |
11 |
58,313,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-02-04 |