Incidental Mutation 'R2474:Lgi3'
| ID |
253306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lgi3
|
| Ensembl Gene |
ENSMUSG00000033595 |
| Gene Name |
leucine-rich repeat LGI family, member 3 |
| Synonyms |
|
| MMRRC Submission |
040405-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R2474 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70768125-70775764 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 70770689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047331]
[ENSMUST00000226548]
|
| AlphaFold |
Q8K406 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047331
|
| SMART Domains |
Protein: ENSMUSP00000046705
Gene: ENSMUSG00000033595
| 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 |
noncoding transcript
Transcript: ENSMUST00000226376
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226548
|
| Meta Mutation Damage Score |
0.9492 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
G |
3: 151,248,361 (GRCm39) |
T678A |
probably benign |
Het |
| Asb7 |
A |
T |
7: 66,328,901 (GRCm39) |
N46K |
probably damaging |
Het |
| Atxn7l2 |
A |
C |
3: 108,111,293 (GRCm39) |
S414R |
probably damaging |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cxcl13 |
C |
T |
5: 96,107,816 (GRCm39) |
Q91* |
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,404,281 (GRCm39) |
N2754D |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,422,045 (GRCm39) |
V125E |
probably damaging |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| Greb1 |
T |
C |
12: 16,764,954 (GRCm39) |
N393S |
possibly damaging |
Het |
| Hfm1 |
A |
T |
5: 107,020,282 (GRCm39) |
V1048D |
possibly damaging |
Het |
| Ilvbl |
T |
C |
10: 78,412,558 (GRCm39) |
V93A |
probably damaging |
Het |
| Itpkb |
A |
G |
1: 180,161,716 (GRCm39) |
D614G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Mpeg1 |
G |
A |
19: 12,439,613 (GRCm39) |
C357Y |
probably damaging |
Het |
| Nedd1 |
A |
G |
10: 92,555,465 (GRCm39) |
F7L |
probably damaging |
Het |
| Or8g26 |
A |
G |
9: 39,095,846 (GRCm39) |
D121G |
probably damaging |
Het |
| Or8k35 |
C |
A |
2: 86,424,957 (GRCm39) |
V72F |
probably benign |
Het |
| Parp8 |
A |
T |
13: 117,029,577 (GRCm39) |
C510S |
possibly damaging |
Het |
| Phb1 |
T |
C |
11: 95,562,248 (GRCm39) |
F42L |
possibly damaging |
Het |
| Pik3r1 |
A |
T |
13: 101,839,284 (GRCm39) |
Y189* |
probably null |
Het |
| Rps5 |
T |
A |
7: 12,660,488 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Senp3 |
T |
A |
11: 69,564,923 (GRCm39) |
N516Y |
probably damaging |
Het |
| Tfap2b |
A |
T |
1: 19,284,599 (GRCm39) |
H169L |
possibly damaging |
Het |
| Tmem260 |
A |
G |
14: 48,733,781 (GRCm39) |
D226G |
probably null |
Het |
| Ttc6 |
G |
T |
12: 57,622,713 (GRCm39) |
R37S |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,222,392 (GRCm39) |
D609E |
possibly damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,598,891 (GRCm39) |
M192L |
probably benign |
Het |
| Zfp746 |
T |
C |
6: 48,041,703 (GRCm39) |
D341G |
probably damaging |
Het |
| Zfp941 |
A |
T |
7: 140,391,384 (GRCm39) |
H658Q |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 48,978,105 (GRCm39) |
I351N |
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 |
|
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 |
|
R8417:Lgi3
|
UTSW |
14 |
70,772,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CCCATCACTACTACGGTGTG -3'
(R):5'- GTTCAGGCCTTACAAGTCACTC -3'
Sequencing Primer
(F):5'- ACATGTGGAAGCCTGTCACTG -3'
(R):5'- TTACAAGTCACTCAGGATGTCCAGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation