Incidental Mutation 'R0686:1700123K08Rik'
| ID |
61161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1700123K08Rik
|
| Ensembl Gene |
ENSMUSG00000029526 |
| Gene Name |
RIKEN cDNA 1700123K08 gene |
| Synonyms |
|
| MMRRC Submission |
038871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R0686 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
138560102-138562974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 138562799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 42
(E42K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031501]
|
| AlphaFold |
Q9D991 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031501
AA Change: E42K
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031501
Gene: ENSMUSG00000029526
AA Change: E42K
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef12 |
A |
C |
9: 42,904,324 (GRCm39) |
L718R |
probably benign |
Het |
| Bsx |
T |
G |
9: 40,787,733 (GRCm39) |
S136A |
probably damaging |
Het |
| Ccne2 |
T |
A |
4: 11,197,220 (GRCm39) |
M174K |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,749,077 (GRCm39) |
Y445H |
probably damaging |
Het |
| Ckb |
A |
G |
12: 111,636,627 (GRCm39) |
V249A |
probably benign |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
| Cyp2r1 |
T |
G |
7: 114,151,246 (GRCm39) |
M358L |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
| Eeig2 |
G |
A |
3: 108,900,001 (GRCm39) |
R116C |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,480,449 (GRCm39) |
D563E |
probably benign |
Het |
| Fhip1b |
G |
T |
7: 105,037,516 (GRCm39) |
L356I |
probably damaging |
Het |
| Fpr-rs4 |
A |
C |
17: 18,242,613 (GRCm39) |
I207L |
probably benign |
Het |
| Fus |
G |
A |
7: 127,571,935 (GRCm39) |
|
probably benign |
Het |
| Ireb2 |
A |
T |
9: 54,811,460 (GRCm39) |
I755L |
probably benign |
Het |
| Kctd9 |
A |
G |
14: 67,966,185 (GRCm39) |
T101A |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,570,811 (GRCm39) |
S1R |
possibly damaging |
Het |
| Ltbr |
T |
C |
6: 125,285,024 (GRCm39) |
D292G |
possibly damaging |
Het |
| Med1 |
G |
A |
11: 98,049,230 (GRCm39) |
T507I |
probably damaging |
Het |
| Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
| Or2ag1 |
A |
T |
7: 106,313,585 (GRCm39) |
M101K |
probably damaging |
Het |
| Or8g37 |
A |
C |
9: 39,730,964 (GRCm39) |
T10P |
probably damaging |
Het |
| Paqr5 |
T |
G |
9: 61,880,076 (GRCm39) |
T59P |
probably benign |
Het |
| Pih1d1 |
T |
A |
7: 44,805,753 (GRCm39) |
L74* |
probably null |
Het |
| Prim2 |
T |
C |
1: 33,553,270 (GRCm39) |
T264A |
probably benign |
Het |
| Prss59 |
G |
A |
6: 40,905,452 (GRCm39) |
S68F |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
| Simc1 |
T |
A |
13: 54,673,003 (GRCm39) |
S450R |
probably benign |
Het |
| Tdrd1 |
A |
T |
19: 56,844,483 (GRCm39) |
N796I |
probably damaging |
Het |
| Vmn1r214 |
T |
A |
13: 23,218,962 (GRCm39) |
I152N |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTATGTTGGATGCAGCCACTCAC -3'
(R):5'- ACCTGACTTACTTGTCTGGAGGACC -3'
Sequencing Primer
(F):5'- TCACGGTTCTGAATAGCAGC -3'
(R):5'- GACTTACTTGTCTGGAGGACCTAAAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation