Incidental Mutation 'R8351:1700123K08Rik'
ID |
645514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700123K08Rik
|
Ensembl Gene |
ENSMUSG00000029526 |
Gene Name |
RIKEN cDNA 1700123K08 gene |
Synonyms |
|
MMRRC Submission |
067804-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R8351 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
138560102-138562974 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 138561188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 158
(T158M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031501]
|
AlphaFold |
Q9D991 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031501
AA Change: T158M
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000031501 Gene: ENSMUSG00000029526 AA Change: T158M
Domain | Start | End | E-Value | Type |
SCOP:d1bkds_
|
48 |
165 |
6e-22 |
SMART |
Blast:RasGEFN
|
66 |
182 |
2e-57 |
BLAST |
low complexity region
|
263 |
282 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
T |
C |
10: 106,885,265 (GRCm39) |
H242R |
probably damaging |
Het |
Ago2 |
G |
T |
15: 73,002,739 (GRCm39) |
D164E |
probably damaging |
Het |
Arl2bp |
G |
A |
8: 95,393,507 (GRCm39) |
E6K |
unknown |
Het |
Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,303,663 (GRCm39) |
E249G |
probably damaging |
Het |
Cep162 |
G |
A |
9: 87,074,903 (GRCm39) |
Q1360* |
probably null |
Het |
Cep350 |
T |
C |
1: 155,747,780 (GRCm39) |
I2047V |
probably damaging |
Het |
Cntnap5c |
C |
T |
17: 58,362,687 (GRCm39) |
R347W |
probably damaging |
Het |
Eif4a3l1 |
T |
A |
6: 136,305,542 (GRCm39) |
M1K |
probably null |
Het |
Fmo6 |
C |
T |
1: 162,748,174 (GRCm39) |
V297M |
probably damaging |
Het |
Furin |
C |
T |
7: 80,048,470 (GRCm39) |
V17M |
probably benign |
Het |
Hs6st1 |
A |
G |
1: 36,108,141 (GRCm39) |
T135A |
probably damaging |
Het |
Klk1 |
A |
G |
7: 43,878,410 (GRCm39) |
E190G |
probably benign |
Het |
Map3k21 |
T |
C |
8: 126,671,472 (GRCm39) |
L920P |
probably benign |
Het |
Mecom |
T |
A |
3: 30,039,519 (GRCm39) |
H180L |
probably benign |
Het |
Mras |
T |
C |
9: 99,293,548 (GRCm39) |
I31V |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,477,413 (GRCm39) |
D532G |
probably damaging |
Het |
Nufip2 |
A |
G |
11: 77,583,181 (GRCm39) |
N365S |
probably damaging |
Het |
Or12j2 |
T |
C |
7: 139,916,518 (GRCm39) |
Y248H |
probably damaging |
Het |
Or4f47 |
A |
T |
2: 111,972,406 (GRCm39) |
M39L |
probably benign |
Het |
Or6b2 |
T |
C |
1: 92,407,660 (GRCm39) |
I228V |
probably benign |
Het |
Pgbd1 |
A |
T |
13: 21,607,550 (GRCm39) |
S215T |
probably benign |
Het |
Ptcd3 |
A |
G |
6: 71,885,625 (GRCm39) |
C34R |
probably benign |
Het |
S100a7l2 |
A |
T |
3: 90,995,671 (GRCm39) |
M77K |
probably benign |
Het |
Samd4 |
A |
G |
14: 47,338,888 (GRCm39) |
D703G |
probably damaging |
Het |
Scaper |
A |
T |
9: 55,724,088 (GRCm39) |
N623K |
possibly damaging |
Het |
Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
Slc12a9 |
T |
C |
5: 137,326,710 (GRCm39) |
D249G |
probably benign |
Het |
Slc3a1 |
A |
G |
17: 85,335,924 (GRCm39) |
N22S |
possibly damaging |
Het |
Sugct |
A |
G |
13: 17,427,143 (GRCm39) |
L339P |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,740,907 (GRCm39) |
D1192G |
probably damaging |
Het |
Tinagl1 |
T |
A |
4: 130,061,376 (GRCm39) |
D289V |
probably damaging |
Het |
Tnrc6b |
C |
A |
15: 80,807,691 (GRCm39) |
P1548T |
probably damaging |
Het |
Vmn1r173 |
T |
A |
7: 23,401,957 (GRCm39) |
L64* |
probably null |
Het |
Zcchc2 |
T |
A |
1: 105,958,662 (GRCm39) |
N1044K |
probably damaging |
Het |
Zfp750 |
T |
C |
11: 121,404,135 (GRCm39) |
I247V |
probably benign |
Het |
|
Other mutations in 1700123K08Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01069:1700123K08Rik
|
APN |
5 |
138,560,751 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02318:1700123K08Rik
|
APN |
5 |
138,561,838 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02451:1700123K08Rik
|
APN |
5 |
138,561,809 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03263:1700123K08Rik
|
APN |
5 |
138,562,499 (GRCm39) |
missense |
probably damaging |
0.98 |
P0016:1700123K08Rik
|
UTSW |
5 |
138,561,200 (GRCm39) |
nonsense |
probably null |
|
R0686:1700123K08Rik
|
UTSW |
5 |
138,562,799 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2051:1700123K08Rik
|
UTSW |
5 |
138,562,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R2055:1700123K08Rik
|
UTSW |
5 |
138,561,107 (GRCm39) |
missense |
probably damaging |
0.99 |
R2185:1700123K08Rik
|
UTSW |
5 |
138,561,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R2761:1700123K08Rik
|
UTSW |
5 |
138,562,436 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4233:1700123K08Rik
|
UTSW |
5 |
138,562,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R5610:1700123K08Rik
|
UTSW |
5 |
138,562,403 (GRCm39) |
critical splice donor site |
probably null |
|
R7136:1700123K08Rik
|
UTSW |
5 |
138,560,610 (GRCm39) |
missense |
probably damaging |
0.98 |
R7365:1700123K08Rik
|
UTSW |
5 |
138,561,198 (GRCm39) |
missense |
probably benign |
0.34 |
R8130:1700123K08Rik
|
UTSW |
5 |
138,561,271 (GRCm39) |
missense |
probably damaging |
0.98 |
R8347:1700123K08Rik
|
UTSW |
5 |
138,561,153 (GRCm39) |
missense |
probably benign |
0.00 |
R8350:1700123K08Rik
|
UTSW |
5 |
138,561,188 (GRCm39) |
missense |
probably benign |
0.02 |
R8352:1700123K08Rik
|
UTSW |
5 |
138,561,188 (GRCm39) |
missense |
probably benign |
0.02 |
R8450:1700123K08Rik
|
UTSW |
5 |
138,561,188 (GRCm39) |
missense |
probably benign |
0.02 |
R8451:1700123K08Rik
|
UTSW |
5 |
138,561,188 (GRCm39) |
missense |
probably benign |
0.02 |
R8452:1700123K08Rik
|
UTSW |
5 |
138,561,188 (GRCm39) |
missense |
probably benign |
0.02 |
R8475:1700123K08Rik
|
UTSW |
5 |
138,561,188 (GRCm39) |
missense |
probably benign |
0.02 |
R9176:1700123K08Rik
|
UTSW |
5 |
138,561,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R9222:1700123K08Rik
|
UTSW |
5 |
138,560,562 (GRCm39) |
missense |
unknown |
|
R9615:1700123K08Rik
|
UTSW |
5 |
138,561,814 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:1700123K08Rik
|
UTSW |
5 |
138,561,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACTCTGGAGAATACCCCGG -3'
(R):5'- CCACTATGCTCATCTGCAGACAG -3'
Sequencing Primer
(F):5'- TCTGGAGAATACCCCGGTGAAATC -3'
(R):5'- TCATCTGCAGACAGGCTGG -3'
|
Posted On |
2020-09-02 |