Incidental Mutation 'R5324:Lrguk'
| ID |
405013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrguk
|
| Ensembl Gene |
ENSMUSG00000056215 |
| Gene Name |
leucine-rich repeats and guanylate kinase domain containing |
| Synonyms |
4921528H16Rik |
| MMRRC Submission |
042907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5324 (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 C
at 34050732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 397
(S397P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070189]
[ENSMUST00000228187]
|
| AlphaFold |
Q9D5S7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070189
AA Change: S397P
PolyPhen 2
Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: S397P
| 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 |
possibly damaging
Transcript: ENSMUST00000228187
AA Change: S397P
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ap5b1 |
G |
A |
19: 5,619,863 (GRCm39) |
E428K |
possibly damaging |
Het |
| Bmp2 |
C |
T |
2: 133,403,279 (GRCm39) |
R277* |
probably null |
Het |
| Cbl |
A |
T |
9: 44,065,551 (GRCm39) |
S659T |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,201,841 (GRCm39) |
H43L |
unknown |
Het |
| Corin |
A |
G |
5: 72,592,600 (GRCm39) |
C133R |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,609,652 (GRCm39) |
N401S |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,132,227 (GRCm39) |
D508G |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,348,819 (GRCm39) |
H2556L |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,140,458 (GRCm39) |
F1333L |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,005,660 (GRCm39) |
K717E |
possibly damaging |
Het |
| Fmn2 |
G |
A |
1: 174,436,446 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hbp1 |
T |
C |
12: 31,978,617 (GRCm39) |
N510S |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,953,570 (GRCm39) |
D617V |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| N6amt1 |
A |
G |
16: 87,151,241 (GRCm39) |
D34G |
probably damaging |
Het |
| Nktr |
A |
T |
9: 121,556,412 (GRCm39) |
D30V |
probably damaging |
Het |
| Or52ab7 |
T |
A |
7: 102,978,257 (GRCm39) |
M188K |
probably damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,040 (GRCm39) |
I174F |
probably damaging |
Het |
| Or6c212 |
T |
A |
10: 129,558,814 (GRCm39) |
I200L |
probably benign |
Het |
| Pabpc1 |
A |
G |
15: 36,600,869 (GRCm39) |
F314L |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,821,345 (GRCm39) |
V226M |
probably damaging |
Het |
| Parp12 |
A |
T |
6: 39,079,546 (GRCm39) |
D321E |
probably damaging |
Het |
| Plch2 |
T |
A |
4: 155,068,991 (GRCm39) |
T1107S |
probably benign |
Het |
| Psma2 |
T |
C |
13: 14,799,802 (GRCm39) |
L182P |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,105,401 (GRCm39) |
Y196C |
probably benign |
Het |
| Rdh16 |
G |
A |
10: 127,637,136 (GRCm39) |
V24M |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,310,041 (GRCm39) |
T105A |
possibly damaging |
Het |
| Serpini1 |
T |
C |
3: 75,547,601 (GRCm39) |
I371T |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,191,674 (GRCm39) |
N920S |
probably benign |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tmprss11f |
T |
A |
5: 86,704,837 (GRCm39) |
D27V |
possibly damaging |
Het |
| Zfp747l1 |
G |
T |
7: 126,984,079 (GRCm39) |
|
probably benign |
Het |
| Zxdc |
T |
A |
6: 90,350,782 (GRCm39) |
I411N |
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 |
|
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'- TTTTGGGAAAGTTAGAGTTGACCAGAG -3'
(R):5'- TGAGAAAGCAGCTTCCACG -3'
Sequencing Primer
(F):5'- GGACCACGTGACTTACCTTG -3'
(R):5'- AAGCAGCTTCCACGGGGAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation