Incidental Mutation 'R5741:Lrguk'
ID |
444786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrguk
|
Ensembl Gene |
ENSMUSG00000056215 |
Gene Name |
leucine-rich repeats and guanylate kinase domain containing |
Synonyms |
4921528H16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R5741 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
34006379-34110969 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34025802 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 199
(D199E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065146
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070189]
[ENSMUST00000101564]
[ENSMUST00000141078]
[ENSMUST00000228187]
|
AlphaFold |
Q9D5S7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070189
AA Change: D199E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000065146 Gene: ENSMUSG00000056215 AA Change: D199E
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 damaging
Transcript: ENSMUST00000228187
AA Change: D199E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810010H24Rik |
T |
G |
11: 106,919,315 (GRCm39) |
F220C |
probably damaging |
Het |
Acox3 |
C |
T |
5: 35,765,668 (GRCm39) |
H140Y |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,488,618 (GRCm39) |
I938K |
probably benign |
Het |
Ap3m1 |
A |
C |
14: 21,095,788 (GRCm39) |
I14S |
possibly damaging |
Het |
Arg1 |
T |
C |
10: 24,793,897 (GRCm39) |
T127A |
probably benign |
Het |
Asah2 |
A |
G |
19: 31,986,015 (GRCm39) |
Y552H |
probably damaging |
Het |
Cfap97d2 |
A |
T |
8: 13,784,835 (GRCm39) |
Q32L |
possibly damaging |
Het |
Chst12 |
A |
G |
5: 140,509,688 (GRCm39) |
N105S |
probably benign |
Het |
Cped1 |
G |
A |
6: 22,123,620 (GRCm39) |
V458I |
probably benign |
Het |
Cyld |
T |
G |
8: 89,471,474 (GRCm39) |
I786S |
probably damaging |
Het |
Cyp2j8 |
C |
T |
4: 96,332,880 (GRCm39) |
V489I |
probably benign |
Het |
Dlgap4 |
T |
C |
2: 156,552,968 (GRCm39) |
Y462H |
probably damaging |
Het |
Dnah5 |
C |
A |
15: 28,246,513 (GRCm39) |
A617D |
probably benign |
Het |
Erc2 |
T |
A |
14: 28,024,826 (GRCm39) |
|
probably null |
Het |
Fancm |
A |
G |
12: 65,148,389 (GRCm39) |
N668S |
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,938,625 (GRCm39) |
I636V |
probably benign |
Het |
Gtf2h2 |
A |
T |
13: 100,617,066 (GRCm39) |
C247S |
probably benign |
Het |
Hyal5 |
T |
A |
6: 24,876,494 (GRCm39) |
H122Q |
probably damaging |
Het |
Ints10 |
G |
A |
8: 69,257,574 (GRCm39) |
R258K |
probably damaging |
Het |
Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,808,615 (GRCm39) |
D95G |
probably benign |
Het |
Map2k1 |
A |
T |
9: 64,121,883 (GRCm39) |
L30Q |
possibly damaging |
Het |
Nell1 |
G |
A |
7: 50,210,638 (GRCm39) |
|
probably null |
Het |
Nfatc3 |
T |
A |
8: 106,805,698 (GRCm39) |
I181N |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,354,133 (GRCm39) |
K1668R |
possibly damaging |
Het |
Or5b113 |
A |
G |
19: 13,342,847 (GRCm39) |
N285S |
probably damaging |
Het |
Or7e170 |
A |
G |
9: 19,794,857 (GRCm39) |
V248A |
possibly damaging |
Het |
Or8d2 |
T |
A |
9: 38,759,899 (GRCm39) |
L163* |
probably null |
Het |
Otud7b |
C |
T |
3: 96,051,615 (GRCm39) |
T189I |
probably damaging |
Het |
Pkia |
A |
T |
3: 7,507,105 (GRCm39) |
E62D |
probably benign |
Het |
Plcb3 |
G |
A |
19: 6,931,790 (GRCm39) |
Q1154* |
probably null |
Het |
Pole4 |
T |
C |
6: 82,628,447 (GRCm39) |
E105G |
probably damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,719,882 (GRCm39) |
V344A |
probably damaging |
Het |
Ptpn21 |
A |
T |
12: 98,645,548 (GRCm39) |
L1130Q |
probably damaging |
Het |
Rapgef5 |
A |
G |
12: 117,719,764 (GRCm39) |
D564G |
probably damaging |
Het |
Samhd1 |
C |
T |
2: 156,954,751 (GRCm39) |
R387H |
probably benign |
Het |
Spag1 |
A |
G |
15: 36,183,849 (GRCm39) |
K65E |
possibly damaging |
Het |
Spata31d1d |
A |
T |
13: 59,876,500 (GRCm39) |
V345D |
possibly damaging |
Het |
Spin1 |
G |
A |
13: 51,303,171 (GRCm39) |
V255I |
possibly damaging |
Het |
Tmem171 |
A |
G |
13: 98,828,559 (GRCm39) |
V197A |
probably benign |
Het |
Tmigd1 |
T |
C |
11: 76,797,916 (GRCm39) |
V86A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,542,417 (GRCm39) |
D31777G |
probably damaging |
Het |
Tymp |
T |
A |
15: 89,260,639 (GRCm39) |
M60L |
probably benign |
Het |
Ugdh |
T |
C |
5: 65,584,866 (GRCm39) |
T19A |
probably damaging |
Het |
Vmn1r234 |
G |
T |
17: 21,449,731 (GRCm39) |
C215F |
probably benign |
Het |
Wnt5b |
T |
C |
6: 119,410,690 (GRCm39) |
D250G |
probably damaging |
Het |
Xrn1 |
T |
A |
9: 95,927,604 (GRCm39) |
C1463S |
probably benign |
Het |
Zfp831 |
T |
A |
2: 174,486,945 (GRCm39) |
I540N |
possibly damaging |
Het |
Zmynd8 |
T |
C |
2: 165,681,937 (GRCm39) |
D189G |
probably damaging |
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 |
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 |
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'- TGGTGACAGTTAGGGTCCAG -3'
(R):5'- GTCACACTCTTCCGGGAATCAC -3'
Sequencing Primer
(F):5'- GACAGTTAGGGTCCAGGTTAG -3'
(R):5'- CCGGGAATCACTTCTCTGGTG -3'
|
Posted On |
2016-11-21 |