Incidental Mutation 'IGL02277:1700017B05Rik'
ID |
287376 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1700017B05Rik
|
Ensembl Gene |
ENSMUSG00000032300 |
Gene Name |
RIKEN cDNA 1700017B05 gene |
Synonyms |
D9Ertd278e |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
IGL02277
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
57160400-57169895 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 57165708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 222
(G222D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150884
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034846]
[ENSMUST00000213199]
[ENSMUST00000215298]
[ENSMUST00000217657]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034846
AA Change: G222D
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000034846 Gene: ENSMUSG00000032300 AA Change: G222D
Domain | Start | End | E-Value | Type |
low complexity region
|
265 |
284 |
N/A |
INTRINSIC |
low complexity region
|
293 |
299 |
N/A |
INTRINSIC |
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
low complexity region
|
649 |
675 |
N/A |
INTRINSIC |
low complexity region
|
692 |
728 |
N/A |
INTRINSIC |
low complexity region
|
785 |
799 |
N/A |
INTRINSIC |
low complexity region
|
933 |
951 |
N/A |
INTRINSIC |
low complexity region
|
963 |
977 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213199
AA Change: G222D
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214583
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215298
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215426
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217657
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,650,485 (GRCm39) |
D625G |
probably benign |
Het |
Akr1c12 |
C |
T |
13: 4,322,268 (GRCm39) |
R258Q |
probably damaging |
Het |
Akr1c20 |
T |
A |
13: 4,564,404 (GRCm39) |
E36D |
probably benign |
Het |
Csn2 |
A |
G |
5: 87,845,881 (GRCm39) |
|
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,497,176 (GRCm39) |
I1084V |
possibly damaging |
Het |
Dlg1 |
A |
G |
16: 31,609,082 (GRCm39) |
I259V |
probably damaging |
Het |
Dpysl5 |
A |
G |
5: 30,946,125 (GRCm39) |
I344V |
probably damaging |
Het |
Fcrl6 |
A |
G |
1: 172,426,686 (GRCm39) |
C87R |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,735,977 (GRCm39) |
E524G |
probably benign |
Het |
Gabpb2 |
A |
G |
3: 95,096,595 (GRCm39) |
V270A |
probably benign |
Het |
Gm5591 |
T |
A |
7: 38,218,462 (GRCm39) |
I804F |
possibly damaging |
Het |
Gm5591 |
T |
C |
7: 38,219,856 (GRCm39) |
D339G |
probably damaging |
Het |
Ighv2-5 |
T |
A |
12: 113,649,127 (GRCm39) |
T109S |
possibly damaging |
Het |
Ints4 |
T |
A |
7: 97,136,665 (GRCm39) |
L119Q |
probably damaging |
Het |
Kansl3 |
A |
T |
1: 36,388,028 (GRCm39) |
D386E |
possibly damaging |
Het |
Kdm3b |
A |
T |
18: 34,956,717 (GRCm39) |
H1224L |
probably damaging |
Het |
Macf1 |
C |
A |
4: 123,380,497 (GRCm39) |
R1523L |
probably damaging |
Het |
Myo1f |
A |
G |
17: 33,798,835 (GRCm39) |
|
probably null |
Het |
Nup188 |
A |
G |
2: 30,216,523 (GRCm39) |
T776A |
possibly damaging |
Het |
Or1q1 |
G |
A |
2: 36,887,196 (GRCm39) |
|
probably null |
Het |
Or2y8 |
T |
A |
11: 52,036,189 (GRCm39) |
H56L |
probably damaging |
Het |
Or4f56 |
T |
A |
2: 111,703,925 (GRCm39) |
I92F |
possibly damaging |
Het |
Plxnb1 |
T |
A |
9: 108,941,201 (GRCm39) |
L1660Q |
probably damaging |
Het |
Ppp1r17 |
A |
G |
6: 56,003,123 (GRCm39) |
D71G |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,389,301 (GRCm39) |
Q1264R |
probably damaging |
Het |
Rgl3 |
C |
T |
9: 21,885,405 (GRCm39) |
V642M |
probably damaging |
Het |
Slc26a2 |
T |
C |
18: 61,332,052 (GRCm39) |
T460A |
probably damaging |
Het |
Smtnl2 |
T |
A |
11: 72,282,199 (GRCm39) |
M395L |
probably damaging |
Het |
St3gal5 |
A |
T |
6: 72,119,184 (GRCm39) |
T99S |
possibly damaging |
Het |
Unc5b |
T |
C |
10: 60,610,521 (GRCm39) |
N421S |
probably benign |
Het |
Zcchc17 |
G |
A |
4: 130,221,014 (GRCm39) |
T179M |
probably benign |
Het |
Zfp369 |
T |
C |
13: 65,432,746 (GRCm39) |
S79P |
probably damaging |
Het |
|
Other mutations in 1700017B05Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01011:1700017B05Rik
|
APN |
9 |
57,165,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01287:1700017B05Rik
|
APN |
9 |
57,165,040 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01798:1700017B05Rik
|
APN |
9 |
57,163,921 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01933:1700017B05Rik
|
APN |
9 |
57,164,650 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02146:1700017B05Rik
|
APN |
9 |
57,164,023 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02158:1700017B05Rik
|
APN |
9 |
57,163,902 (GRCm39) |
splice site |
probably null |
|
IGL02707:1700017B05Rik
|
APN |
9 |
57,165,928 (GRCm39) |
missense |
probably benign |
|
IGL02887:1700017B05Rik
|
APN |
9 |
57,166,168 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02936:1700017B05Rik
|
APN |
9 |
57,165,687 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0583:1700017B05Rik
|
UTSW |
9 |
57,164,926 (GRCm39) |
missense |
probably benign |
0.04 |
R0926:1700017B05Rik
|
UTSW |
9 |
57,164,832 (GRCm39) |
missense |
probably damaging |
0.99 |
R1812:1700017B05Rik
|
UTSW |
9 |
57,164,740 (GRCm39) |
nonsense |
probably null |
|
R1903:1700017B05Rik
|
UTSW |
9 |
57,165,635 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4542:1700017B05Rik
|
UTSW |
9 |
57,163,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R4596:1700017B05Rik
|
UTSW |
9 |
57,165,088 (GRCm39) |
missense |
probably benign |
0.03 |
R4631:1700017B05Rik
|
UTSW |
9 |
57,165,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R4869:1700017B05Rik
|
UTSW |
9 |
57,161,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R5265:1700017B05Rik
|
UTSW |
9 |
57,166,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R5361:1700017B05Rik
|
UTSW |
9 |
57,164,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R6216:1700017B05Rik
|
UTSW |
9 |
57,164,910 (GRCm39) |
missense |
probably benign |
0.33 |
R6356:1700017B05Rik
|
UTSW |
9 |
57,161,292 (GRCm39) |
missense |
probably benign |
0.11 |
R6579:1700017B05Rik
|
UTSW |
9 |
57,161,507 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6774:1700017B05Rik
|
UTSW |
9 |
57,163,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R6921:1700017B05Rik
|
UTSW |
9 |
57,166,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R7089:1700017B05Rik
|
UTSW |
9 |
57,166,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R7196:1700017B05Rik
|
UTSW |
9 |
57,165,505 (GRCm39) |
frame shift |
probably null |
|
R7197:1700017B05Rik
|
UTSW |
9 |
57,165,505 (GRCm39) |
frame shift |
probably null |
|
R7728:1700017B05Rik
|
UTSW |
9 |
57,163,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R7770:1700017B05Rik
|
UTSW |
9 |
57,165,894 (GRCm39) |
missense |
probably damaging |
0.99 |
R7812:1700017B05Rik
|
UTSW |
9 |
57,165,141 (GRCm39) |
missense |
probably damaging |
0.99 |
R8141:1700017B05Rik
|
UTSW |
9 |
57,165,688 (GRCm39) |
missense |
probably benign |
|
R8144:1700017B05Rik
|
UTSW |
9 |
57,166,388 (GRCm39) |
start gained |
probably benign |
|
R8925:1700017B05Rik
|
UTSW |
9 |
57,165,805 (GRCm39) |
nonsense |
probably null |
|
R8927:1700017B05Rik
|
UTSW |
9 |
57,165,805 (GRCm39) |
nonsense |
probably null |
|
R9186:1700017B05Rik
|
UTSW |
9 |
57,164,472 (GRCm39) |
missense |
probably damaging |
0.99 |
R9194:1700017B05Rik
|
UTSW |
9 |
57,166,371 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R9299:1700017B05Rik
|
UTSW |
9 |
57,163,792 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Posted On |
2015-04-16 |