Incidental Mutation 'P0016:1700123K08Rik'
ID |
7615 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700123K08Rik
|
Ensembl Gene |
ENSMUSG00000029526 |
Gene Name |
RIKEN cDNA 1700123K08 gene |
Synonyms |
|
MMRRC Submission |
038269-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
P0016 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
138560102-138562974 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 138561200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 154
(L154*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031501]
|
AlphaFold |
Q9D991 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031501
AA Change: L154*
|
SMART Domains |
Protein: ENSMUSP00000031501 Gene: ENSMUSG00000029526 AA Change: L154*
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198778
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199968
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 85.6%
- 3x: 81.0%
- 10x: 66.8%
- 20x: 50.1%
|
Validation Efficiency |
96% (97/101) |
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
T |
C |
7: 29,262,537 (GRCm39) |
|
noncoding transcript |
Het |
Arap3 |
T |
A |
18: 38,117,401 (GRCm39) |
T892S |
probably benign |
Het |
Ctnnd2 |
G |
A |
15: 30,967,084 (GRCm39) |
V987I |
probably benign |
Het |
Dennd6b |
T |
C |
15: 89,071,180 (GRCm39) |
I351V |
probably benign |
Het |
Kif27 |
G |
A |
13: 58,451,266 (GRCm39) |
Q1021* |
probably null |
Het |
Klb |
G |
A |
5: 65,537,266 (GRCm39) |
W865* |
probably null |
Het |
Mbd1 |
C |
T |
18: 74,407,609 (GRCm39) |
R130* |
probably null |
Het |
Mroh7 |
T |
A |
4: 106,565,054 (GRCm39) |
|
probably null |
Het |
Myo16 |
C |
T |
8: 10,450,596 (GRCm39) |
|
probably benign |
Het |
Rbm22 |
T |
A |
18: 60,703,842 (GRCm39) |
|
probably benign |
Het |
Rnaseh2a |
C |
G |
8: 85,686,429 (GRCm39) |
D206H |
probably damaging |
Het |
Slain1 |
A |
G |
14: 103,923,110 (GRCm39) |
T187A |
probably benign |
Het |
Slamf6 |
A |
G |
1: 171,764,068 (GRCm39) |
T154A |
probably damaging |
Het |
Traip |
A |
G |
9: 107,845,855 (GRCm39) |
D316G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,641,527 (GRCm39) |
D5196G |
probably damaging |
Het |
Ubr5 |
C |
T |
15: 38,000,822 (GRCm39) |
V1569M |
probably damaging |
Het |
Zfp750 |
T |
A |
11: 121,404,804 (GRCm39) |
K24* |
probably null |
Het |
Zfp799 |
T |
C |
17: 33,038,331 (GRCm39) |
E645G |
possibly damaging |
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 |
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 |
R8351:1700123K08Rik
|
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 |
|
Posted On |
2012-10-05 |