Incidental Mutation 'IGL02636:Lrguk'
| ID |
301528 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02636
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
34006379-34110969 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34067123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 483
(T483K)
|
| 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: T483K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: T483K
| 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: T483K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
C |
A |
6: 85,605,636 (GRCm39) |
Q1960K |
probably benign |
Het |
| Arhgef40 |
T |
A |
14: 52,234,865 (GRCm39) |
V1056E |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,091,755 (GRCm39) |
F105I |
probably damaging |
Het |
| Cep162 |
A |
T |
9: 87,130,432 (GRCm39) |
D59E |
possibly damaging |
Het |
| Cngb3 |
A |
T |
4: 19,396,690 (GRCm39) |
T348S |
probably damaging |
Het |
| Eci3 |
A |
T |
13: 35,130,963 (GRCm39) |
|
probably null |
Het |
| Gapvd1 |
A |
G |
2: 34,615,416 (GRCm39) |
I409T |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,186,735 (GRCm39) |
|
probably null |
Het |
| Hoxd3 |
G |
A |
2: 74,577,298 (GRCm39) |
A393T |
probably benign |
Het |
| Htr5a |
T |
C |
5: 28,047,658 (GRCm39) |
F71S |
probably damaging |
Het |
| Hyou1 |
T |
C |
9: 44,292,707 (GRCm39) |
|
probably null |
Het |
| Igsf6 |
C |
A |
7: 120,666,503 (GRCm39) |
|
probably benign |
Het |
| Klrb1c |
C |
A |
6: 128,765,515 (GRCm39) |
C25F |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,060,532 (GRCm39) |
|
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,958,407 (GRCm39) |
|
probably null |
Het |
| Megf8 |
G |
A |
7: 25,057,857 (GRCm39) |
G2098D |
probably damaging |
Het |
| Nfkbia |
T |
C |
12: 55,537,958 (GRCm39) |
Q165R |
possibly damaging |
Het |
| Nipsnap2 |
A |
G |
5: 129,822,354 (GRCm39) |
|
probably benign |
Het |
| Phykpl |
C |
T |
11: 51,489,540 (GRCm39) |
T382I |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,240,977 (GRCm39) |
D206G |
possibly damaging |
Het |
| Rab26 |
T |
C |
17: 24,752,533 (GRCm39) |
S9G |
probably benign |
Het |
| Sema3e |
C |
A |
5: 14,275,670 (GRCm39) |
N258K |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,920,971 (GRCm39) |
|
noncoding transcript |
Het |
| Tgm5 |
A |
T |
2: 120,907,277 (GRCm39) |
C149S |
probably damaging |
Het |
| Timp4 |
C |
T |
6: 115,226,785 (GRCm39) |
|
probably null |
Het |
| Traf7 |
T |
C |
17: 24,731,964 (GRCm39) |
K251E |
probably benign |
Het |
| Ugcg |
G |
T |
4: 59,207,763 (GRCm39) |
R34L |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,444 (GRCm39) |
H300R |
probably damaging |
Het |
| Vmn1r20 |
G |
T |
6: 57,408,746 (GRCm39) |
C24F |
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,883 (GRCm39) |
R31G |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,113,002 (GRCm39) |
T87A |
possibly damaging |
Het |
| Zfp353-ps |
T |
A |
8: 42,535,477 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation