Incidental Mutation 'R8417:Lgi3'
ID |
653012 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lgi3
|
Ensembl Gene |
ENSMUSG00000033595 |
Gene Name |
leucine-rich repeat LGI family, member 3 |
Synonyms |
|
MMRRC Submission |
067771-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R8417 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
70768125-70775764 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70772246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 264
(Y264H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046705
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047331]
[ENSMUST00000226548]
|
AlphaFold |
Q8K406 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047331
AA Change: Y264H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000046705 Gene: ENSMUSG00000033595 AA Change: Y264H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
31 |
47 |
N/A |
INTRINSIC |
LRR
|
87 |
110 |
2.63e0 |
SMART |
LRR
|
111 |
134 |
1.07e0 |
SMART |
LRR_TYP
|
135 |
158 |
2.84e-5 |
SMART |
LRRCT
|
170 |
219 |
2.76e-4 |
SMART |
Pfam:EPTP
|
222 |
263 |
7.6e-13 |
PFAM |
Pfam:EPTP
|
268 |
309 |
1.3e-12 |
PFAM |
Pfam:EPTP
|
314 |
360 |
1.1e-14 |
PFAM |
Pfam:EPTP
|
363 |
405 |
2.4e-9 |
PFAM |
Pfam:EPTP
|
410 |
452 |
1.2e-11 |
PFAM |
Pfam:EPTP
|
455 |
496 |
2.2e-12 |
PFAM |
Pfam:EPTP
|
501 |
541 |
2.4e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226548
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
T |
C |
9: 21,440,381 (GRCm39) |
|
probably null |
Het |
Adamtsl1 |
G |
A |
4: 86,074,926 (GRCm39) |
D98N |
possibly damaging |
Het |
Adgrb3 |
T |
C |
1: 25,527,134 (GRCm39) |
T601A |
probably benign |
Het |
Ankrd33 |
C |
A |
15: 101,017,330 (GRCm39) |
Q248K |
probably benign |
Het |
Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
Casp12 |
G |
T |
9: 5,352,263 (GRCm39) |
C155F |
probably benign |
Het |
Ccn6 |
T |
A |
10: 39,027,207 (GRCm39) |
R342* |
probably null |
Het |
Clpp |
T |
C |
17: 57,297,661 (GRCm39) |
V81A |
probably benign |
Het |
Cyp3a59 |
A |
T |
5: 146,027,495 (GRCm39) |
I89F |
possibly damaging |
Het |
Fam227b |
C |
A |
2: 125,962,982 (GRCm39) |
W178L |
probably damaging |
Het |
Fcna |
C |
A |
2: 25,514,863 (GRCm39) |
R332L |
probably damaging |
Het |
Gdf3 |
T |
G |
6: 122,583,566 (GRCm39) |
H267P |
probably damaging |
Het |
Gm5592 |
A |
G |
7: 40,937,975 (GRCm39) |
D419G |
probably benign |
Het |
Gm6882 |
A |
G |
7: 21,161,220 (GRCm39) |
V216A |
probably damaging |
Het |
Gsdma3 |
A |
G |
11: 98,520,603 (GRCm39) |
N78S |
probably benign |
Het |
Hsd3b9 |
G |
A |
3: 98,363,731 (GRCm39) |
T38I |
probably benign |
Het |
Hydin |
T |
C |
8: 111,296,024 (GRCm39) |
I3579T |
probably benign |
Het |
Ighmbp2 |
T |
C |
19: 3,311,590 (GRCm39) |
I942V |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,106,515 (GRCm39) |
Y1266H |
probably damaging |
Het |
Lmod2 |
G |
A |
6: 24,603,384 (GRCm39) |
E120K |
possibly damaging |
Het |
Mbl2 |
G |
T |
19: 30,216,884 (GRCm39) |
C232F |
probably damaging |
Het |
Morc1 |
T |
C |
16: 48,281,103 (GRCm39) |
V214A |
probably damaging |
Het |
Nlrp4b |
T |
A |
7: 10,459,880 (GRCm39) |
C827* |
probably null |
Het |
Or12k5 |
T |
A |
2: 36,894,658 (GRCm39) |
T323S |
probably benign |
Het |
Or5t7 |
A |
G |
2: 86,507,149 (GRCm39) |
F176S |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,749,419 (GRCm39) |
H72Q |
possibly damaging |
Het |
Plekhm2 |
T |
C |
4: 141,355,136 (GRCm39) |
I944V |
probably benign |
Het |
Prdm8 |
A |
T |
5: 98,332,390 (GRCm39) |
D97V |
probably damaging |
Het |
Preb |
G |
A |
5: 31,117,461 (GRCm39) |
|
probably benign |
Het |
Prkcd |
T |
C |
14: 30,331,208 (GRCm39) |
K56E |
probably benign |
Het |
Slit3 |
A |
T |
11: 35,501,438 (GRCm39) |
I391F |
probably damaging |
Het |
Spata19 |
A |
G |
9: 27,309,266 (GRCm39) |
S91G |
probably benign |
Het |
Stag3 |
A |
G |
5: 138,306,850 (GRCm39) |
T1134A |
probably benign |
Het |
Tgfbr2 |
A |
T |
9: 115,939,197 (GRCm39) |
M235K |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,249,097 (GRCm39) |
I212N |
probably damaging |
Het |
Tnfrsf26 |
C |
T |
7: 143,168,639 (GRCm39) |
R133K |
probably benign |
Het |
Trim43c |
C |
A |
9: 88,725,191 (GRCm39) |
Q238K |
probably benign |
Het |
Vcan |
T |
C |
13: 89,836,862 (GRCm39) |
D2894G |
probably benign |
Het |
Zeb2 |
C |
T |
2: 44,913,008 (GRCm39) |
S105N |
probably damaging |
Het |
|
Other mutations in Lgi3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01639:Lgi3
|
APN |
14 |
70,770,825 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02203:Lgi3
|
APN |
14 |
70,771,958 (GRCm39) |
missense |
possibly damaging |
0.68 |
P0007:Lgi3
|
UTSW |
14 |
70,774,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R0114:Lgi3
|
UTSW |
14 |
70,768,469 (GRCm39) |
start gained |
probably benign |
|
R0225:Lgi3
|
UTSW |
14 |
70,770,261 (GRCm39) |
missense |
probably benign |
|
R0242:Lgi3
|
UTSW |
14 |
70,772,255 (GRCm39) |
nonsense |
probably null |
|
R0242:Lgi3
|
UTSW |
14 |
70,772,255 (GRCm39) |
nonsense |
probably null |
|
R0244:Lgi3
|
UTSW |
14 |
70,772,138 (GRCm39) |
missense |
probably benign |
0.30 |
R0396:Lgi3
|
UTSW |
14 |
70,772,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R0479:Lgi3
|
UTSW |
14 |
70,771,992 (GRCm39) |
unclassified |
probably benign |
|
R1652:Lgi3
|
UTSW |
14 |
70,768,656 (GRCm39) |
missense |
probably damaging |
0.99 |
R1840:Lgi3
|
UTSW |
14 |
70,772,216 (GRCm39) |
splice site |
probably null |
|
R1930:Lgi3
|
UTSW |
14 |
70,773,708 (GRCm39) |
missense |
probably damaging |
0.98 |
R1931:Lgi3
|
UTSW |
14 |
70,773,708 (GRCm39) |
missense |
probably damaging |
0.98 |
R2474:Lgi3
|
UTSW |
14 |
70,770,689 (GRCm39) |
critical splice donor site |
probably null |
|
R4672:Lgi3
|
UTSW |
14 |
70,771,897 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5979:Lgi3
|
UTSW |
14 |
70,773,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R6385:Lgi3
|
UTSW |
14 |
70,768,610 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7146:Lgi3
|
UTSW |
14 |
70,770,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R7314:Lgi3
|
UTSW |
14 |
70,769,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R7712:Lgi3
|
UTSW |
14 |
70,768,551 (GRCm39) |
missense |
unknown |
|
R8124:Lgi3
|
UTSW |
14 |
70,772,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R8826:Lgi3
|
UTSW |
14 |
70,768,712 (GRCm39) |
critical splice donor site |
probably null |
|
R8881:Lgi3
|
UTSW |
14 |
70,770,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R9186:Lgi3
|
UTSW |
14 |
70,772,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTTCCTACTACCACCCAGTG -3'
(R):5'- CAGGGCTAGAATTGGTTCAAAG -3'
Sequencing Primer
(F):5'- CAGTGGGTTGGTGCCTTATTCC -3'
(R):5'- AGGGCTAGAATTGGTTCAAAGTGTTC -3'
|
Posted On |
2020-10-20 |