Incidental Mutation 'R4778:Lrguk'
ID |
368079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrguk
|
Ensembl Gene |
ENSMUSG00000056215 |
Gene Name |
leucine-rich repeats and guanylate kinase domain containing |
Synonyms |
4921528H16Rik |
MMRRC Submission |
042414-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R4778 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
34006379-34110969 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34033015 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 227
(I227K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065146
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070189]
[ENSMUST00000228187]
|
AlphaFold |
Q9D5S7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070189
AA Change: I227K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065146 Gene: ENSMUSG00000056215 AA Change: I227K
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: I227K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.8595 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,615,342 (GRCm39) |
N1349S |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,989,339 (GRCm39) |
V3541A |
possibly damaging |
Het |
Arhgap33 |
T |
A |
7: 30,231,518 (GRCm39) |
T156S |
probably benign |
Het |
Bltp1 |
T |
A |
3: 36,991,214 (GRCm39) |
M897K |
possibly damaging |
Het |
Card11 |
G |
T |
5: 140,869,537 (GRCm39) |
|
probably null |
Het |
Cdh3 |
T |
A |
8: 107,270,458 (GRCm39) |
I445N |
probably damaging |
Het |
Csrp3 |
T |
G |
7: 48,482,311 (GRCm39) |
K169N |
probably damaging |
Het |
Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
Czib |
T |
C |
4: 107,749,195 (GRCm39) |
V64A |
probably damaging |
Het |
Dpysl3 |
C |
T |
18: 43,487,867 (GRCm39) |
V159I |
probably benign |
Het |
Erc1 |
A |
T |
6: 119,774,298 (GRCm39) |
|
probably null |
Het |
Fat1 |
T |
C |
8: 45,491,363 (GRCm39) |
V3808A |
probably benign |
Het |
Fbxw19 |
T |
C |
9: 109,323,714 (GRCm39) |
D87G |
probably damaging |
Het |
Gm1123 |
T |
C |
9: 98,900,560 (GRCm39) |
I99V |
probably benign |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Hand1 |
T |
C |
11: 57,722,449 (GRCm39) |
D55G |
possibly damaging |
Het |
Mdn1 |
C |
T |
4: 32,683,583 (GRCm39) |
R726* |
probably null |
Het |
Minar1 |
T |
A |
9: 89,485,155 (GRCm39) |
I81F |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,619,694 (GRCm39) |
V1415E |
probably damaging |
Het |
Myof |
T |
C |
19: 37,938,011 (GRCm39) |
D901G |
probably damaging |
Het |
Naip1 |
A |
G |
13: 100,563,156 (GRCm39) |
Y670H |
probably damaging |
Het |
Nmd3 |
T |
A |
3: 69,638,924 (GRCm39) |
Y171* |
probably null |
Het |
Notch4 |
C |
T |
17: 34,801,485 (GRCm39) |
A1111V |
possibly damaging |
Het |
Nphp4 |
T |
A |
4: 152,640,748 (GRCm39) |
D1038E |
probably benign |
Het |
Or2ag1b |
A |
C |
7: 106,288,874 (GRCm39) |
S21R |
probably damaging |
Het |
Or5p60 |
A |
T |
7: 107,723,687 (GRCm39) |
I261N |
possibly damaging |
Het |
Osbpl10 |
C |
T |
9: 114,938,598 (GRCm39) |
S86L |
probably damaging |
Het |
Pcsk6 |
G |
A |
7: 65,608,893 (GRCm39) |
G252R |
probably damaging |
Het |
Pole |
T |
G |
5: 110,478,698 (GRCm39) |
H15Q |
probably benign |
Het |
Pstpip1 |
A |
G |
9: 56,035,904 (GRCm39) |
D383G |
possibly damaging |
Het |
Ptprq |
T |
C |
10: 107,426,883 (GRCm39) |
T1551A |
probably benign |
Het |
Rasgrf2 |
A |
G |
13: 92,131,780 (GRCm39) |
F626L |
probably damaging |
Het |
Retreg1 |
C |
A |
15: 25,971,871 (GRCm39) |
N394K |
possibly damaging |
Het |
Rpl7-ps8 |
T |
A |
15: 59,083,252 (GRCm39) |
|
noncoding transcript |
Het |
Rpp14 |
T |
A |
14: 8,090,203 (GRCm38) |
D42E |
probably benign |
Het |
Rrp8 |
T |
A |
7: 105,386,481 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Snx1 |
T |
C |
9: 66,008,698 (GRCm39) |
|
probably benign |
Het |
Stau1 |
A |
T |
2: 166,805,442 (GRCm39) |
N51K |
probably benign |
Het |
Tdrd5 |
T |
A |
1: 156,083,157 (GRCm39) |
D960V |
probably damaging |
Het |
Tex10 |
T |
C |
4: 48,436,468 (GRCm39) |
D750G |
probably damaging |
Het |
Tmem43 |
T |
C |
6: 91,459,237 (GRCm39) |
V236A |
probably damaging |
Het |
Tmem89 |
T |
C |
9: 108,744,443 (GRCm39) |
V112A |
probably damaging |
Het |
Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
Vmn1r41 |
A |
C |
6: 89,724,257 (GRCm39) |
K266T |
probably damaging |
Het |
Vmn2r65 |
T |
C |
7: 84,592,801 (GRCm39) |
K469E |
possibly damaging |
Het |
Zfp831 |
A |
G |
2: 174,488,600 (GRCm39) |
T1092A |
possibly damaging |
Het |
Zfp981 |
T |
A |
4: 146,622,112 (GRCm39) |
S346T |
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 |
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 |
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'- TGTGGGGTACATAACATTCCC -3'
(R):5'- ACTGGCTTTACTTGAACATGGAC -3'
Sequencing Primer
(F):5'- CTTGTGTGAATGTCAAAGGACCAC -3'
(R):5'- GGCTTTACTTGAACATGGACTATTG -3'
|
Posted On |
2015-12-29 |