Incidental Mutation 'R6356:1700017B05Rik'
| ID |
513020 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
57160400-57169895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57161292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 152
(S152T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034846]
[ENSMUST00000093837]
[ENSMUST00000213199]
[ENSMUST00000215298]
[ENSMUST00000217657]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034846
AA Change: S1009T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: S1009T
| 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: ENSMUST00000093837
|
| SMART Domains |
Protein: ENSMUSP00000091357
Gene: ENSMUSG00000070298
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
335 |
N/A |
INTRINSIC |
|
Blast:SEA
|
449 |
549 |
5e-21 |
BLAST |
|
low complexity region
|
580 |
594 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214583
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215298
AA Change: S152T
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217657
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,093,901 (GRCm39) |
V140A |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,776,740 (GRCm39) |
N32S |
probably null |
Het |
| Agap2 |
T |
C |
10: 126,918,865 (GRCm39) |
S414P |
unknown |
Het |
| Arhgef38 |
A |
G |
3: 132,846,638 (GRCm39) |
F376L |
probably benign |
Het |
| Cd22 |
A |
T |
7: 30,577,127 (GRCm39) |
I60N |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,274,626 (GRCm39) |
D488V |
probably damaging |
Het |
| Cfap251 |
G |
A |
5: 123,392,729 (GRCm39) |
|
probably benign |
Het |
| Cox16 |
T |
G |
12: 81,519,115 (GRCm39) |
D148A |
probably damaging |
Het |
| Dclre1b |
G |
A |
3: 103,715,471 (GRCm39) |
T9I |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,743,686 (GRCm39) |
V1176A |
probably benign |
Het |
| Echdc1 |
A |
C |
10: 29,220,522 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
G |
11: 104,784,533 (GRCm39) |
K2772E |
probably benign |
Het |
| Efnb3 |
G |
A |
11: 69,446,966 (GRCm39) |
A248V |
probably benign |
Het |
| Glud1 |
A |
G |
14: 34,033,173 (GRCm39) |
R107G |
probably benign |
Het |
| Gtf2h4 |
A |
G |
17: 35,980,647 (GRCm39) |
S279P |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,791,402 (GRCm39) |
C2579R |
probably damaging |
Het |
| Igkv15-103 |
A |
G |
6: 68,414,441 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Krtap5-2 |
T |
C |
7: 141,729,119 (GRCm39) |
|
probably benign |
Het |
| Lcn11 |
G |
T |
2: 25,668,132 (GRCm39) |
G97* |
probably null |
Het |
| Lrrtm3 |
G |
A |
10: 63,765,943 (GRCm39) |
T548M |
probably benign |
Het |
| Map3k2 |
A |
T |
18: 32,345,023 (GRCm39) |
T283S |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,493 (GRCm39) |
K2292E |
possibly damaging |
Het |
| Med23 |
G |
T |
10: 24,764,311 (GRCm39) |
C98F |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,257,652 (GRCm39) |
F26Y |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,366,416 (GRCm39) |
M2160K |
probably benign |
Het |
| Myocd |
T |
C |
11: 65,109,396 (GRCm39) |
|
probably null |
Het |
| Nup160 |
T |
A |
2: 90,542,279 (GRCm39) |
|
probably null |
Het |
| Obi1 |
A |
G |
14: 104,716,313 (GRCm39) |
S687P |
probably damaging |
Het |
| Olr1 |
A |
T |
6: 129,470,522 (GRCm39) |
L215Q |
probably benign |
Het |
| Or5ak23 |
T |
A |
2: 85,245,031 (GRCm39) |
Q64L |
probably damaging |
Het |
| Or6c216 |
T |
A |
10: 129,678,477 (GRCm39) |
S145C |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,947,440 (GRCm39) |
K1414R |
possibly damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,280,976 (GRCm39) |
V96A |
probably benign |
Het |
| Prim1 |
T |
A |
10: 127,859,704 (GRCm39) |
Y299N |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,311,141 (GRCm39) |
S624P |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,101,018 (GRCm39) |
I687N |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,971,830 (GRCm39) |
F801L |
probably damaging |
Het |
| St6gal2 |
T |
C |
17: 55,789,014 (GRCm39) |
I16T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Trim8 |
T |
G |
19: 46,503,797 (GRCm39) |
S450A |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,276,562 (GRCm39) |
T848A |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,783,368 (GRCm39) |
S523G |
possibly damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,902,926 (GRCm39) |
M501L |
probably benign |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,048 (GRCm39) |
V235M |
possibly damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,673,251 (GRCm39) |
V1434M |
probably damaging |
Het |
| Zmym5 |
A |
T |
14: 57,031,622 (GRCm39) |
N495K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCAGCAAGTCTCTGCCC -3'
(R):5'- AAGCCTTGGCTGGAAAGTTG -3'
Sequencing Primer
(F):5'- AGCAAGTCTCTGCCCGGTTAG -3'
(R):5'- TGGAAAGTTGCCAGCCC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation