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 |
Incidental Mutation