Incidental Mutation 'R1069:Lrguk'
| ID |
86125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrguk
|
| Ensembl Gene |
ENSMUSG00000056215 |
| Gene Name |
leucine-rich repeats and guanylate kinase domain containing |
| Synonyms |
4921528H16Rik |
| MMRRC Submission |
039155-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R1069 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
34006379-34110969 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 34025818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 205
(I205L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070189]
[ENSMUST00000101564]
[ENSMUST00000141078]
[ENSMUST00000228187]
|
| AlphaFold |
Q9D5S7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070189
AA Change: I205L
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: I205L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
75 |
113 |
N/A |
INTRINSIC |
|
LRR
|
148 |
170 |
2.69e2 |
SMART |
|
LRR
|
236 |
258 |
1.86e2 |
SMART |
|
LRR
|
279 |
301 |
1.99e0 |
SMART |
|
LRR
|
326 |
349 |
1.58e2 |
SMART |
|
GuKc
|
414 |
600 |
6.84e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101564
|
| SMART Domains |
Protein: ENSMUSP00000099100
Gene: ENSMUSG00000056215
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
75 |
113 |
N/A |
INTRINSIC |
|
Pfam:LRR_1
|
150 |
170 |
9e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141078
|
| SMART Domains |
Protein: ENSMUSP00000117680
Gene: ENSMUSG00000056215
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_4
|
14 |
61 |
3.4e-8 |
PFAM |
|
Pfam:LRR_1
|
15 |
35 |
6.1e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228187
AA Change: I205L
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.2362 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
G |
18: 6,624,037 (GRCm39) |
N106S |
probably benign |
Het |
| Akr1c21 |
C |
A |
13: 4,625,333 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,085 (GRCm39) |
R1570C |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,366,852 (GRCm39) |
R249C |
probably damaging |
Het |
| Cacnb4 |
C |
A |
2: 52,345,623 (GRCm39) |
R252I |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,123,844 (GRCm39) |
T480A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,442,971 (GRCm39) |
C745* |
probably null |
Het |
| Ccr8 |
A |
G |
9: 119,923,283 (GRCm39) |
I133V |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Dgkq |
T |
C |
5: 108,803,903 (GRCm39) |
|
probably benign |
Het |
| Ecd |
A |
G |
14: 20,383,504 (GRCm39) |
C312R |
probably damaging |
Het |
| Eddm13 |
A |
T |
7: 6,258,921 (GRCm39) |
|
probably null |
Het |
| Gstm1 |
T |
C |
3: 107,920,064 (GRCm39) |
S226G |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hacd4 |
T |
A |
4: 88,355,739 (GRCm39) |
I49L |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,247,591 (GRCm39) |
N269S |
probably damaging |
Het |
| Ifitm3 |
A |
T |
7: 140,589,813 (GRCm39) |
|
probably benign |
Het |
| Kctd9 |
C |
T |
14: 67,966,869 (GRCm39) |
|
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,928,251 (GRCm39) |
L1131P |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,035,350 (GRCm39) |
T33A |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,730,819 (GRCm39) |
T38A |
probably benign |
Het |
| Mir100hg |
G |
A |
9: 41,501,594 (GRCm39) |
R151H |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,833,272 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,916,724 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,018,870 (GRCm39) |
K635* |
probably null |
Het |
| Sap130 |
G |
A |
18: 31,844,682 (GRCm39) |
V898I |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,239 (GRCm39) |
G2516R |
probably damaging |
Het |
| Tas2r131 |
C |
T |
6: 132,934,788 (GRCm39) |
R7K |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,284,136 (GRCm39) |
|
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,338,909 (GRCm39) |
C580R |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
Het |
|
| Other mutations in Lrguk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Lrguk
|
APN |
6 |
34,020,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00566:Lrguk
|
APN |
6 |
34,033,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01720:Lrguk
|
APN |
6 |
34,020,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02325:Lrguk
|
APN |
6 |
34,106,114 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02484:Lrguk
|
APN |
6 |
34,069,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02493:Lrguk
|
APN |
6 |
34,106,127 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02636:Lrguk
|
APN |
6 |
34,067,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03278:Lrguk
|
APN |
6 |
34,093,381 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0031:Lrguk
|
UTSW |
6 |
34,020,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1487:Lrguk
|
UTSW |
6 |
34,039,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1568:Lrguk
|
UTSW |
6 |
34,063,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1604:Lrguk
|
UTSW |
6 |
34,049,305 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1847:Lrguk
|
UTSW |
6 |
34,110,322 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2045:Lrguk
|
UTSW |
6 |
34,048,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Lrguk
|
UTSW |
6 |
34,039,296 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2125:Lrguk
|
UTSW |
6 |
34,069,837 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2136:Lrguk
|
UTSW |
6 |
34,020,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2997:Lrguk
|
UTSW |
6 |
34,050,697 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3847:Lrguk
|
UTSW |
6 |
34,050,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3849:Lrguk
|
UTSW |
6 |
34,050,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:Lrguk
|
UTSW |
6 |
34,106,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4718:Lrguk
|
UTSW |
6 |
34,006,431 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4778:Lrguk
|
UTSW |
6 |
34,033,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Lrguk
|
UTSW |
6 |
34,069,802 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5324:Lrguk
|
UTSW |
6 |
34,050,732 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5450:Lrguk
|
UTSW |
6 |
34,047,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5741:Lrguk
|
UTSW |
6 |
34,025,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5939:Lrguk
|
UTSW |
6 |
34,055,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Lrguk
|
UTSW |
6 |
34,106,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6786:Lrguk
|
UTSW |
6 |
34,072,522 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6802:Lrguk
|
UTSW |
6 |
34,039,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7081:Lrguk
|
UTSW |
6 |
34,079,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7303:Lrguk
|
UTSW |
6 |
34,006,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7316:Lrguk
|
UTSW |
6 |
34,080,191 (GRCm39) |
missense |
unknown |
|
|
R7473:Lrguk
|
UTSW |
6 |
34,006,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7543:Lrguk
|
UTSW |
6 |
34,025,870 (GRCm39) |
nonsense |
probably null |
|
|
R7613:Lrguk
|
UTSW |
6 |
34,078,683 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7716:Lrguk
|
UTSW |
6 |
34,072,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7900:Lrguk
|
UTSW |
6 |
34,106,129 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8012:Lrguk
|
UTSW |
6 |
34,033,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8251:Lrguk
|
UTSW |
6 |
34,093,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8324:Lrguk
|
UTSW |
6 |
34,079,506 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8551:Lrguk
|
UTSW |
6 |
34,093,446 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8828:Lrguk
|
UTSW |
6 |
34,080,572 (GRCm39) |
missense |
unknown |
|
|
R8879:Lrguk
|
UTSW |
6 |
34,006,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0057:Lrguk
|
UTSW |
6 |
34,055,682 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCAGTTCCTTCTCAAGATGGTG -3'
(R):5'- AGCATGTCCCCAGTAGGAAAGGTAG -3'
Sequencing Primer
(F):5'- CCTTCTCAAGATGGTGACAGTTAG -3'
(R):5'- gagagacagacagacagacag -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation