Incidental Mutation 'IGL01798:1700017B05Rik'
ID |
155420 |
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 # |
IGL01798
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
57160400-57169895 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57163921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 818
(I818V)
|
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: I818V
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000034846 Gene: ENSMUSG00000032300 AA Change: I818V
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: I818V
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
A |
C |
5: 8,282,604 (GRCm39) |
|
probably null |
Het |
Afap1 |
T |
A |
5: 36,093,026 (GRCm39) |
|
probably null |
Het |
Aunip |
G |
T |
4: 134,250,722 (GRCm39) |
K222N |
possibly damaging |
Het |
Ccnt1 |
A |
G |
15: 98,442,122 (GRCm39) |
V382A |
probably benign |
Het |
Clip1 |
T |
C |
5: 123,721,612 (GRCm39) |
D1123G |
probably damaging |
Het |
Cxcr1 |
T |
A |
1: 74,231,759 (GRCm39) |
I88F |
possibly damaging |
Het |
Duox2 |
A |
C |
2: 122,112,389 (GRCm39) |
Y1266D |
probably damaging |
Het |
Elk4 |
T |
A |
1: 131,945,592 (GRCm39) |
S157T |
possibly damaging |
Het |
Erc1 |
T |
C |
6: 119,597,298 (GRCm39) |
T1004A |
possibly damaging |
Het |
Fah |
T |
C |
7: 84,238,837 (GRCm39) |
N336S |
probably benign |
Het |
Glg1 |
A |
T |
8: 111,919,332 (GRCm39) |
S253T |
possibly damaging |
Het |
Gm10377 |
A |
T |
14: 42,614,864 (GRCm39) |
I167K |
probably benign |
Het |
Hipk1 |
A |
T |
3: 103,668,875 (GRCm39) |
I507N |
probably damaging |
Het |
Hnf1a |
T |
C |
5: 115,091,732 (GRCm39) |
E357G |
probably damaging |
Het |
Ighv1-22 |
A |
T |
12: 114,710,298 (GRCm39) |
L10H |
probably damaging |
Het |
Igkv6-23 |
A |
G |
6: 70,237,574 (GRCm39) |
Y56H |
probably damaging |
Het |
Lyrm9 |
A |
G |
11: 78,728,955 (GRCm39) |
I56V |
probably damaging |
Het |
Ncam1 |
G |
T |
9: 49,419,907 (GRCm39) |
T804K |
probably damaging |
Het |
Nfu1 |
T |
A |
6: 86,992,605 (GRCm39) |
I73K |
probably damaging |
Het |
Ruvbl2 |
A |
G |
7: 45,071,587 (GRCm39) |
L432P |
probably damaging |
Het |
Tcf3 |
T |
C |
10: 80,249,043 (GRCm39) |
T527A |
probably benign |
Het |
Tle1 |
T |
C |
4: 72,055,385 (GRCm39) |
D432G |
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 |
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 |
|
IGL02277:1700017B05Rik
|
APN |
9 |
57,165,708 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
2014-02-04 |