Incidental Mutation 'R6921:1700017B05Rik'
| ID |
539647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1700017B05Rik
|
| Ensembl Gene |
ENSMUSG00000032300 |
| Gene Name |
RIKEN cDNA 1700017B05 gene |
| Synonyms |
D9Ertd278e |
| MMRRC Submission |
045006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R6921 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57160400-57169895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57166019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 118
(H118Q)
|
| 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 damaging
Transcript: ENSMUST00000034846
AA Change: H118Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: H118Q
| 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 damaging
Transcript: ENSMUST00000213199
AA Change: H118Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217657
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.4%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
G |
5: 81,796,560 (GRCm39) |
V623G |
probably damaging |
Het |
| B9d2 |
A |
G |
7: 25,385,442 (GRCm39) |
D84G |
probably damaging |
Het |
| Clec1a |
A |
T |
6: 129,405,827 (GRCm39) |
L268H |
probably damaging |
Het |
| Copa |
A |
T |
1: 171,939,491 (GRCm39) |
N576I |
possibly damaging |
Het |
| Cyp11b1 |
T |
C |
15: 74,712,798 (GRCm39) |
T88A |
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,785,063 (GRCm39) |
I318T |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,180,654 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,932,310 (GRCm39) |
A3639S |
probably damaging |
Het |
| Dnajc8 |
T |
A |
4: 132,272,031 (GRCm39) |
I89N |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,102,549 (GRCm39) |
H377L |
probably benign |
Het |
| Erfe |
T |
A |
1: 91,298,054 (GRCm39) |
I212N |
probably benign |
Het |
| Fam117b |
A |
G |
1: 59,992,094 (GRCm39) |
T248A |
probably damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,044,849 (GRCm39) |
N595K |
probably damaging |
Het |
| Fzd10 |
T |
A |
5: 128,678,646 (GRCm39) |
M122K |
probably damaging |
Het |
| Gpr15 |
C |
T |
16: 58,538,144 (GRCm39) |
R315H |
probably benign |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| H6pd |
T |
C |
4: 150,066,508 (GRCm39) |
D626G |
probably damaging |
Het |
| Hexd |
A |
G |
11: 121,113,107 (GRCm39) |
D514G |
probably damaging |
Het |
| Hoxd4 |
T |
C |
2: 74,558,836 (GRCm39) |
S220P |
possibly damaging |
Het |
| Invs |
A |
G |
4: 48,396,260 (GRCm39) |
H311R |
possibly damaging |
Het |
| Ip6k1 |
A |
G |
9: 107,901,634 (GRCm39) |
T70A |
probably damaging |
Het |
| Lipt2 |
T |
C |
7: 99,809,578 (GRCm39) |
C222R |
probably damaging |
Het |
| Lrrc3 |
T |
A |
10: 77,736,866 (GRCm39) |
D190V |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,280,603 (GRCm39) |
T561A |
probably benign |
Het |
| Mcm10 |
G |
A |
2: 5,005,746 (GRCm39) |
T463I |
probably benign |
Het |
| Mideas |
A |
G |
12: 84,203,233 (GRCm39) |
S890P |
probably damaging |
Het |
| Mmel1 |
T |
C |
4: 154,966,134 (GRCm39) |
L52P |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,332,969 (GRCm39) |
N2218S |
probably benign |
Het |
| Nr4a3 |
C |
T |
4: 48,051,486 (GRCm39) |
P80L |
probably benign |
Het |
| Nrip1 |
C |
T |
16: 76,089,476 (GRCm39) |
G694R |
possibly damaging |
Het |
| Oit3 |
A |
T |
10: 59,271,767 (GRCm39) |
C197S |
probably damaging |
Het |
| Or5al1 |
C |
T |
2: 85,990,196 (GRCm39) |
V173M |
probably benign |
Het |
| Or8b1b |
A |
G |
9: 38,375,543 (GRCm39) |
I69V |
probably benign |
Het |
| Otol1 |
A |
G |
3: 69,935,433 (GRCm39) |
E475G |
possibly damaging |
Het |
| Pes1 |
T |
C |
11: 3,923,330 (GRCm39) |
F168L |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,615,155 (GRCm39) |
R780H |
possibly damaging |
Het |
| Pxdn |
C |
G |
12: 30,065,504 (GRCm39) |
P1275A |
probably damaging |
Het |
| Sgcz |
T |
C |
8: 37,993,443 (GRCm39) |
E218G |
probably damaging |
Het |
| Slc27a5 |
A |
T |
7: 12,725,135 (GRCm39) |
N437K |
probably damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,384,612 (GRCm39) |
S155P |
probably damaging |
Het |
| Tgfbrap1 |
T |
C |
1: 43,091,056 (GRCm39) |
M690V |
probably benign |
Het |
| Tmem151a |
A |
T |
19: 5,133,119 (GRCm39) |
L29Q |
probably damaging |
Het |
| Tmprss2 |
A |
G |
16: 97,369,637 (GRCm39) |
I379T |
probably damaging |
Het |
| Vmn1r168 |
T |
A |
7: 23,240,323 (GRCm39) |
V60E |
probably damaging |
Het |
| Vmn2r73 |
A |
C |
7: 85,507,446 (GRCm39) |
V622G |
probably benign |
Het |
| Wdr72 |
A |
G |
9: 74,117,928 (GRCm39) |
H880R |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,678,024 (GRCm39) |
T3025A |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATGGTAGTCCTCGCAAG -3'
(R):5'- GGACTCCTGCAATTACAAAGGTG -3'
Sequencing Primer
(F):5'- CTTGCCAGGAGCTGTAGC -3'
(R):5'- ACAAAGGTGCATATTTCTCCTGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation