Incidental Mutation 'R3039:1700069L16Rik'
ID |
477581 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700069L16Rik
|
Ensembl Gene |
ENSMUSG00000042184 |
Gene Name |
RIKEN cDNA 1700069L16 gene |
Synonyms |
|
MMRRC Submission |
040555-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3039 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
113830485-113862833 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 113830797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 64
(K64N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162388]
|
AlphaFold |
Q9D9H5 |
Predicted Effect |
unknown
Transcript: ENSMUST00000162388
AA Change: K64N
|
SMART Domains |
Protein: ENSMUSP00000124273 Gene: ENSMUSG00000042184 AA Change: K64N
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Cap2 |
A |
G |
13: 46,793,317 (GRCm39) |
N228D |
probably benign |
Het |
Cd300ld |
A |
G |
11: 114,877,003 (GRCm39) |
S143P |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,228,758 (GRCm39) |
V2110A |
probably benign |
Het |
Dusp29 |
A |
G |
14: 21,752,975 (GRCm39) |
V57A |
probably damaging |
Het |
Gpat3 |
T |
C |
5: 101,045,671 (GRCm39) |
S432P |
possibly damaging |
Het |
Lgi4 |
C |
T |
7: 30,759,492 (GRCm39) |
A16V |
probably benign |
Het |
Nsmce1 |
T |
C |
7: 125,070,328 (GRCm39) |
E161G |
probably damaging |
Het |
Pdgfa |
A |
G |
5: 138,972,114 (GRCm39) |
V95A |
probably benign |
Het |
Pes1 |
T |
C |
11: 3,925,547 (GRCm39) |
Y221H |
probably damaging |
Het |
Phf19 |
T |
C |
2: 34,795,534 (GRCm39) |
E179G |
probably benign |
Het |
Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
Ush2a |
T |
C |
1: 188,643,744 (GRCm39) |
S4369P |
probably damaging |
Het |
Wdr1 |
A |
G |
5: 38,687,428 (GRCm39) |
I201T |
possibly damaging |
Het |
Zhx1 |
T |
C |
15: 57,916,647 (GRCm39) |
D533G |
possibly damaging |
Het |
|
Other mutations in 1700069L16Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R8356:1700069L16Rik
|
UTSW |
5 |
113,861,868 (GRCm39) |
start codon destroyed |
unknown |
|
R8390:1700069L16Rik
|
UTSW |
5 |
113,830,841 (GRCm39) |
missense |
unknown |
|
R8912:1700069L16Rik
|
UTSW |
5 |
113,861,767 (GRCm39) |
nonsense |
probably null |
|
R8987:1700069L16Rik
|
UTSW |
5 |
113,830,813 (GRCm39) |
missense |
unknown |
|
R8993:1700069L16Rik
|
UTSW |
5 |
113,841,842 (GRCm39) |
nonsense |
probably null |
|
R9775:1700069L16Rik
|
UTSW |
5 |
113,861,765 (GRCm39) |
missense |
unknown |
|
R9776:1700069L16Rik
|
UTSW |
5 |
113,861,765 (GRCm39) |
missense |
unknown |
|
R9803:1700069L16Rik
|
UTSW |
5 |
113,841,964 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
|
Posted On |
2017-05-15 |