Incidental Mutation 'R3849:Lrguk'
ID |
275808 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrguk
|
Ensembl Gene |
ENSMUSG00000056215 |
Gene Name |
leucine-rich repeats and guanylate kinase domain containing |
Synonyms |
4921528H16Rik |
MMRRC Submission |
040897-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R3849 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
34006379-34110969 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34050703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 387
(D387G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070189]
[ENSMUST00000228187]
|
AlphaFold |
Q9D5S7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070189
AA Change: D387G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065146 Gene: ENSMUSG00000056215 AA Change: D387G
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 damaging
Transcript: ENSMUST00000228187
AA Change: D387G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.3512 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430038I01Rik |
A |
T |
7: 136,978,069 (GRCm39) |
N102K |
possibly damaging |
Het |
Abca1 |
C |
T |
4: 53,061,481 (GRCm39) |
|
probably benign |
Het |
Adamts17 |
T |
A |
7: 66,490,215 (GRCm39) |
L99Q |
possibly damaging |
Het |
Adamtsl1 |
A |
T |
4: 86,336,783 (GRCm39) |
Q1564L |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,386,024 (GRCm39) |
V556E |
probably benign |
Het |
Axin1 |
T |
A |
17: 26,406,771 (GRCm39) |
Y455N |
probably benign |
Het |
Cacna2d3 |
A |
G |
14: 29,069,077 (GRCm39) |
|
probably null |
Het |
Car8 |
T |
A |
4: 8,189,353 (GRCm39) |
I154F |
probably benign |
Het |
Ccl27a |
T |
A |
4: 41,773,232 (GRCm39) |
T76S |
probably benign |
Het |
Cep170 |
G |
A |
1: 176,583,409 (GRCm39) |
A990V |
probably benign |
Het |
Chd1 |
A |
T |
17: 15,952,133 (GRCm39) |
T291S |
probably damaging |
Het |
Col3a1 |
C |
A |
1: 45,361,150 (GRCm39) |
P112T |
unknown |
Het |
Cpa4 |
T |
C |
6: 30,590,872 (GRCm39) |
F390S |
probably damaging |
Het |
Cul5 |
T |
G |
9: 53,529,286 (GRCm39) |
M800L |
probably benign |
Het |
Dst |
C |
T |
1: 34,251,400 (GRCm39) |
S4165F |
probably damaging |
Het |
Dusp8 |
T |
C |
7: 141,643,802 (GRCm39) |
E37G |
probably damaging |
Het |
Efr3b |
T |
C |
12: 4,033,414 (GRCm39) |
N131S |
probably benign |
Het |
Fan1 |
T |
C |
7: 64,022,119 (GRCm39) |
Y378C |
probably damaging |
Het |
Fcgr2b |
T |
C |
1: 170,795,704 (GRCm39) |
N75S |
possibly damaging |
Het |
Foxp4 |
A |
G |
17: 48,186,453 (GRCm39) |
I442T |
unknown |
Het |
Gp9 |
A |
G |
6: 87,756,133 (GRCm39) |
I49M |
probably benign |
Het |
Grip1 |
G |
A |
10: 119,765,863 (GRCm39) |
G65D |
probably damaging |
Het |
Hoxc10 |
T |
C |
15: 102,875,879 (GRCm39) |
V196A |
probably benign |
Het |
Hpx |
A |
G |
7: 105,245,498 (GRCm39) |
C92R |
probably damaging |
Het |
Ighv1-22 |
A |
G |
12: 114,710,301 (GRCm39) |
F9S |
possibly damaging |
Het |
Kif24 |
C |
T |
4: 41,404,734 (GRCm39) |
R422H |
probably damaging |
Het |
Klk1b1 |
T |
C |
7: 43,618,751 (GRCm39) |
Y43H |
probably damaging |
Het |
Lmo7 |
A |
G |
14: 102,159,531 (GRCm39) |
|
probably null |
Het |
Lysmd1 |
G |
A |
3: 95,045,772 (GRCm39) |
G203D |
probably damaging |
Het |
Mpnd |
T |
C |
17: 56,318,692 (GRCm39) |
S150P |
probably damaging |
Het |
Mrc2 |
T |
C |
11: 105,183,729 (GRCm39) |
|
probably null |
Het |
Mtr |
A |
G |
13: 12,262,251 (GRCm39) |
S152P |
probably benign |
Het |
Naip2 |
A |
T |
13: 100,315,940 (GRCm39) |
L280Q |
probably damaging |
Het |
Naip2 |
G |
C |
13: 100,315,941 (GRCm39) |
L280V |
probably damaging |
Het |
Ndufa13 |
T |
C |
8: 70,354,260 (GRCm39) |
D9G |
probably damaging |
Het |
Nek1 |
T |
A |
8: 61,525,349 (GRCm39) |
F596I |
probably damaging |
Het |
Nsd1 |
A |
G |
13: 55,394,504 (GRCm39) |
T702A |
probably benign |
Het |
Or7d10 |
A |
T |
9: 19,832,105 (GRCm39) |
Y200F |
probably damaging |
Het |
Pam |
T |
A |
1: 97,782,481 (GRCm39) |
|
probably benign |
Het |
Plxna1 |
C |
A |
6: 89,333,501 (GRCm39) |
R376L |
probably damaging |
Het |
Plxnc1 |
A |
G |
10: 94,630,294 (GRCm39) |
V1535A |
probably benign |
Het |
Prdx5 |
A |
G |
19: 6,884,218 (GRCm39) |
L166P |
probably damaging |
Het |
Prol1 |
A |
T |
5: 88,476,476 (GRCm39) |
I289F |
unknown |
Het |
Prss23 |
T |
C |
7: 89,158,959 (GRCm39) |
Y370C |
probably damaging |
Het |
Rimbp3 |
A |
T |
16: 17,028,163 (GRCm39) |
H529L |
probably benign |
Het |
Rnase2b |
T |
A |
14: 51,400,205 (GRCm39) |
H95Q |
probably damaging |
Het |
Rnf103 |
C |
G |
6: 71,485,859 (GRCm39) |
C163W |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,749,753 (GRCm39) |
V1433A |
probably damaging |
Het |
Rusf1 |
C |
T |
7: 127,884,380 (GRCm39) |
V201I |
probably damaging |
Het |
Syne2 |
C |
T |
12: 76,092,839 (GRCm39) |
Q5150* |
probably null |
Het |
Tas2r110 |
T |
A |
6: 132,845,638 (GRCm39) |
I223N |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,881,752 (GRCm39) |
|
probably null |
Het |
Vwa3a |
A |
T |
7: 120,361,687 (GRCm39) |
K133* |
probably null |
Het |
Vwce |
T |
C |
19: 10,624,269 (GRCm39) |
S387P |
probably damaging |
Het |
Zbtb41 |
T |
A |
1: 139,351,734 (GRCm39) |
H282Q |
probably benign |
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 |
R1069:Lrguk
|
UTSW |
6 |
34,025,818 (GRCm39) |
missense |
possibly damaging |
0.63 |
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 |
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'- TAGAGTTGACCAGAGAGACTACGTG -3'
(R):5'- TGAGAAAGCAGCTTCCACG -3'
Sequencing Primer
(F):5'- ACTACGTGCAAGGCTGGG -3'
(R):5'- AAGCAGCTTCCACGGGGAC -3'
|
Posted On |
2015-04-06 |