Incidental Mutation 'R2761:1700123K08Rik'
| ID |
254035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1700123K08Rik
|
| Ensembl Gene |
ENSMUSG00000029526 |
| Gene Name |
RIKEN cDNA 1700123K08 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R2761 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
138560102-138562974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138562436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 102
(T102A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031501]
|
| AlphaFold |
Q9D991 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031501
AA Change: T102A
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031501
Gene: ENSMUSG00000029526
AA Change: T102A
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,773,541 (GRCm39) |
V910A |
probably damaging |
Het |
| Acoxl |
T |
C |
2: 127,719,733 (GRCm39) |
Y165H |
probably benign |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Cdh1 |
T |
A |
8: 107,380,481 (GRCm39) |
I208N |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,270,000 (GRCm39) |
I477V |
probably damaging |
Het |
| Cpa2 |
A |
G |
6: 30,554,193 (GRCm39) |
D271G |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,355,369 (GRCm39) |
M109V |
probably benign |
Het |
| Hdac3 |
A |
T |
18: 38,078,779 (GRCm39) |
S111T |
probably benign |
Het |
| Kremen1 |
GGG |
GGGTGG |
11: 5,151,792 (GRCm39) |
|
probably benign |
Het |
| Krt31 |
T |
C |
11: 99,938,691 (GRCm39) |
T301A |
probably benign |
Het |
| Rad21 |
T |
A |
15: 51,846,039 (GRCm39) |
K10N |
probably damaging |
Het |
| Snap47 |
T |
C |
11: 59,328,885 (GRCm39) |
D139G |
probably benign |
Het |
| Tango6 |
C |
A |
8: 107,425,664 (GRCm39) |
T408N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTGATGTTTGACACTCCATG -3'
(R):5'- TCTGTTGTGAAAATGATCAGGAGC -3'
Sequencing Primer
(F):5'- ATGTTTGACACTCCATGGGGAC -3'
(R):5'- TGATCAGGAGCCAGACTCTATGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation