Incidental Mutation 'IGL02936:1700017B05Rik'
ID |
364313 |
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: 0.122)
|
Stock # |
IGL02936
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
57160400-57169895 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 57165687 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 229
(T229I)
|
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 |
possibly damaging
Transcript: ENSMUST00000034846
AA Change: T229I
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000034846 Gene: ENSMUSG00000032300 AA Change: T229I
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 |
possibly damaging
Transcript: ENSMUST00000213199
AA Change: T229I
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
T |
C |
9: 103,990,711 (GRCm39) |
S439P |
probably benign |
Het |
Acer2 |
A |
T |
4: 86,818,796 (GRCm39) |
N148I |
possibly damaging |
Het |
Adgre1 |
A |
G |
17: 57,785,833 (GRCm39) |
I860V |
probably benign |
Het |
Asb2 |
A |
G |
12: 103,302,173 (GRCm39) |
I125T |
probably benign |
Het |
Atp13a2 |
G |
T |
4: 140,729,260 (GRCm39) |
L614F |
probably benign |
Het |
Car7 |
A |
G |
8: 105,274,854 (GRCm39) |
T132A |
possibly damaging |
Het |
Cfap221 |
T |
C |
1: 119,912,482 (GRCm39) |
D135G |
probably damaging |
Het |
Crtc3 |
A |
G |
7: 80,239,511 (GRCm39) |
F614L |
probably damaging |
Het |
Csn3 |
T |
G |
5: 88,077,992 (GRCm39) |
I166S |
possibly damaging |
Het |
Dna2 |
T |
G |
10: 62,792,879 (GRCm39) |
L298R |
probably damaging |
Het |
Ece1 |
T |
C |
4: 137,673,612 (GRCm39) |
S387P |
probably benign |
Het |
Fbxo28 |
C |
T |
1: 182,169,093 (GRCm39) |
G15D |
unknown |
Het |
Fbxw24 |
A |
T |
9: 109,454,026 (GRCm39) |
|
probably null |
Het |
Foxd3 |
T |
A |
4: 99,545,052 (GRCm39) |
V64E |
probably benign |
Het |
Galnt7 |
A |
C |
8: 58,037,248 (GRCm39) |
V47G |
probably benign |
Het |
Gcc2 |
A |
T |
10: 58,131,962 (GRCm39) |
L1453F |
probably damaging |
Het |
Gcnt4 |
G |
A |
13: 97,082,919 (GRCm39) |
V72I |
probably benign |
Het |
Gm10269 |
A |
C |
18: 20,816,010 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
T |
G |
1: 150,573,273 (GRCm39) |
Q2125H |
probably damaging |
Het |
Iho1 |
T |
C |
9: 108,289,702 (GRCm39) |
I173M |
possibly damaging |
Het |
Llcfc1 |
T |
A |
6: 41,661,593 (GRCm39) |
S48T |
probably benign |
Het |
Met |
G |
T |
6: 17,553,396 (GRCm39) |
V1061F |
probably damaging |
Het |
Mthfd2 |
G |
A |
6: 83,288,342 (GRCm39) |
H138Y |
probably damaging |
Het |
Mtus1 |
A |
T |
8: 41,452,554 (GRCm39) |
D1041E |
possibly damaging |
Het |
Mug2 |
G |
A |
6: 122,058,346 (GRCm39) |
|
probably null |
Het |
Nos3 |
C |
T |
5: 24,585,991 (GRCm39) |
T878I |
probably damaging |
Het |
Or4c15 |
A |
G |
2: 88,760,128 (GRCm39) |
M177T |
probably benign |
Het |
Or52b1 |
A |
T |
7: 104,979,212 (GRCm39) |
Y62* |
probably null |
Het |
Pbrm1 |
T |
A |
14: 30,783,470 (GRCm39) |
V497D |
probably damaging |
Het |
Plcd1 |
T |
C |
9: 118,903,267 (GRCm39) |
E471G |
probably damaging |
Het |
Poc1a |
A |
G |
9: 106,162,226 (GRCm39) |
T84A |
probably damaging |
Het |
Ppm1f |
A |
G |
16: 16,733,100 (GRCm39) |
H209R |
probably damaging |
Het |
Rccd1 |
T |
A |
7: 79,966,794 (GRCm39) |
K329N |
probably damaging |
Het |
Serpinb9g |
A |
T |
13: 33,678,865 (GRCm39) |
N245I |
possibly damaging |
Het |
Slc22a26 |
A |
C |
19: 7,768,470 (GRCm39) |
F196V |
probably damaging |
Het |
Tial1 |
G |
A |
7: 128,044,387 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
A |
T |
1: 14,946,193 (GRCm39) |
|
probably null |
Het |
Vmn1r15 |
A |
T |
6: 57,235,803 (GRCm39) |
K224* |
probably null |
Het |
Wdr72 |
A |
T |
9: 74,059,862 (GRCm39) |
D424V |
probably damaging |
Het |
Wt1 |
A |
G |
2: 104,999,384 (GRCm39) |
K308E |
probably damaging |
Het |
Zwint |
T |
C |
10: 72,492,956 (GRCm39) |
S193P |
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 |
|
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 |
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 |
2015-12-18 |