Incidental Mutation 'R6399:Lrrc30'
| ID |
516112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc30
|
| Ensembl Gene |
ENSMUSG00000073375 |
| Gene Name |
leucine rich repeat containing 30 |
| Synonyms |
LOC240131 |
| MMRRC Submission |
044546-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6399 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
67937960-67939718 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to A
at 67939681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097290]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097290
|
| SMART Domains |
Protein: ENSMUSP00000094893
Gene: ENSMUSG00000073375
| Domain | Start | End | E-Value | Type |
|---|
|
LRR_TYP
|
69 |
92 |
1.67e-2 |
SMART |
|
LRR
|
115 |
138 |
1.73e0 |
SMART |
|
LRR
|
139 |
160 |
1.91e1 |
SMART |
|
LRR_TYP
|
161 |
184 |
2.53e-2 |
SMART |
|
Blast:LRR
|
207 |
229 |
1e-5 |
BLAST |
|
LRR
|
230 |
253 |
3.29e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
97% (28/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,645,821 (GRCm39) |
C569R |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,031,784 (GRCm39) |
W207R |
probably damaging |
Het |
| Apbb2 |
C |
T |
5: 66,608,810 (GRCm39) |
|
probably null |
Het |
| Atad2b |
T |
C |
12: 5,007,558 (GRCm39) |
V415A |
probably damaging |
Het |
| Ccdc150 |
G |
A |
1: 54,303,116 (GRCm39) |
|
probably null |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,828,274 (GRCm39) |
T1072A |
probably damaging |
Het |
| Depdc1b |
T |
A |
13: 108,460,580 (GRCm39) |
F63L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,344 (GRCm39) |
V2431M |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,458,882 (GRCm39) |
E2421G |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,894 (GRCm39) |
S543P |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,294,319 (GRCm39) |
S1025T |
probably damaging |
Het |
| Ndrg3 |
C |
G |
2: 156,782,294 (GRCm39) |
A191P |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,590,666 (GRCm39) |
Y215C |
probably damaging |
Het |
| Or5aq7 |
C |
T |
2: 86,938,330 (GRCm39) |
V134I |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,961 (GRCm39) |
T57A |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Rnf34 |
T |
C |
5: 122,999,839 (GRCm39) |
F32L |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,676,834 (GRCm39) |
L205F |
probably benign |
Het |
| Tbc1d24 |
T |
A |
17: 24,427,303 (GRCm39) |
I220F |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,744,385 (GRCm39) |
T758S |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,282,562 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
C |
2: 76,556,407 (GRCm39) |
F30199L |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,556,406 (GRCm39) |
S30200R |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,447 (GRCm39) |
D1050G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,033,312 (GRCm39) |
S605C |
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,096,982 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
C |
A |
18: 45,019,469 (GRCm39) |
Q1413K |
possibly damaging |
Het |
|
| Other mutations in Lrrc30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Lrrc30
|
APN |
17 |
67,939,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00957:Lrrc30
|
APN |
17 |
67,939,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02500:Lrrc30
|
APN |
17 |
67,938,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Lrrc30
|
UTSW |
17 |
67,939,200 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1769:Lrrc30
|
UTSW |
17 |
67,938,676 (GRCm39) |
makesense |
probably null |
|
|
R2079:Lrrc30
|
UTSW |
17 |
67,938,875 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3405:Lrrc30
|
UTSW |
17 |
67,939,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3406:Lrrc30
|
UTSW |
17 |
67,939,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4301:Lrrc30
|
UTSW |
17 |
67,939,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:Lrrc30
|
UTSW |
17 |
67,938,860 (GRCm39) |
missense |
probably benign |
|
|
R7079:Lrrc30
|
UTSW |
17 |
67,939,016 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7454:Lrrc30
|
UTSW |
17 |
67,939,238 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7611:Lrrc30
|
UTSW |
17 |
67,939,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7642:Lrrc30
|
UTSW |
17 |
67,939,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8512:Lrrc30
|
UTSW |
17 |
67,938,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9059:Lrrc30
|
UTSW |
17 |
67,938,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Lrrc30
|
UTSW |
17 |
67,938,854 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9638:Lrrc30
|
UTSW |
17 |
67,939,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0027:Lrrc30
|
UTSW |
17 |
67,939,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Lrrc30
|
UTSW |
17 |
67,938,690 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Lrrc30
|
UTSW |
17 |
67,939,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
|
| Posted On |
2018-05-04 |
Incidental Mutation