Incidental Mutation 'R0575:Lgi4'
| ID |
56190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lgi4
|
| Ensembl Gene |
ENSMUSG00000036560 |
| Gene Name |
leucine-rich repeat LGI family, member 4 |
| Synonyms |
clp |
| MMRRC Submission |
038765-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0575 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30758767-30770360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30759518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 25
(G25R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039775]
[ENSMUST00000039909]
[ENSMUST00000164725]
[ENSMUST00000169785]
[ENSMUST00000205439]
[ENSMUST00000206474]
[ENSMUST00000206328]
[ENSMUST00000205807]
[ENSMUST00000206305]
|
| AlphaFold |
Q8K1S1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039775
AA Change: G25R
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000041579
Gene: ENSMUSG00000036560
AA Change: G25R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
LRR
|
75 |
98 |
7.17e1 |
SMART |
|
LRR
|
99 |
122 |
2.76e1 |
SMART |
|
LRR_TYP
|
123 |
146 |
2.43e-4 |
SMART |
|
LRRCT
|
158 |
207 |
3.97e-5 |
SMART |
|
Pfam:EPTP
|
214 |
251 |
1.1e-7 |
PFAM |
|
Pfam:EPTP
|
396 |
438 |
2.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039909
|
| SMART Domains |
Protein: ENSMUSP00000048460
Gene: ENSMUSG00000036570
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ATP1G1_PLM_MAT8
|
23 |
72 |
1.1e-31 |
PFAM |
|
low complexity region
|
81 |
92 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164725
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169785
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172001
|
| SMART Domains |
Protein: ENSMUSP00000125865
Gene: ENSMUSG00000036560
| Domain | Start | End | E-Value | Type |
|---|
|
LRRCT
|
9 |
58 |
3.97e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205392
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205439
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205807
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206305
|
| Meta Mutation Damage Score |
0.0644 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (30/30) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant animals have an abnormal posture where the forelimbs are flexed and rotated inwards. The peripheral nervous system is delayed in myelination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
C |
T |
14: 54,828,709 (GRCm39) |
S264N |
possibly damaging |
Het |
| Acsm1 |
G |
A |
7: 119,258,424 (GRCm39) |
|
probably null |
Het |
| Adsl |
C |
T |
15: 80,847,886 (GRCm39) |
A93V |
probably damaging |
Het |
| Agbl5 |
A |
T |
5: 31,051,798 (GRCm39) |
S539C |
probably damaging |
Het |
| Aggf1 |
T |
A |
13: 95,504,905 (GRCm39) |
T285S |
probably benign |
Het |
| Anapc11 |
A |
G |
11: 120,490,192 (GRCm39) |
D36G |
probably benign |
Het |
| Ankrd44 |
G |
A |
1: 54,801,469 (GRCm39) |
A286V |
probably damaging |
Het |
| Atf7ip2 |
G |
T |
16: 10,055,075 (GRCm39) |
G281C |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,996,232 (GRCm39) |
K4475E |
probably damaging |
Het |
| Ccbe1 |
T |
A |
18: 66,227,066 (GRCm39) |
|
probably benign |
Het |
| Cyp26b1 |
A |
G |
6: 84,552,288 (GRCm39) |
|
probably benign |
Het |
| Dcun1d1 |
T |
C |
3: 35,951,934 (GRCm39) |
|
probably benign |
Het |
| Dtwd2 |
C |
A |
18: 49,831,539 (GRCm39) |
C156F |
probably damaging |
Het |
| Efcab6 |
T |
G |
15: 83,851,901 (GRCm39) |
I326L |
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| F5 |
C |
A |
1: 164,003,813 (GRCm39) |
Q203K |
probably damaging |
Het |
| Frs3 |
A |
G |
17: 48,014,648 (GRCm39) |
H447R |
possibly damaging |
Het |
| Gmds |
T |
G |
13: 32,124,566 (GRCm39) |
Q264P |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,739,171 (GRCm39) |
D2503E |
probably benign |
Het |
| Or2y1b |
G |
A |
11: 49,208,880 (GRCm39) |
C169Y |
probably damaging |
Het |
| Or5b107 |
T |
A |
19: 13,142,751 (GRCm39) |
Y124* |
probably null |
Het |
| Pcdh20 |
A |
G |
14: 88,705,048 (GRCm39) |
S751P |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,614,010 (GRCm39) |
T652A |
probably benign |
Het |
| Pom121l2 |
T |
G |
13: 22,168,338 (GRCm39) |
F870V |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,774 (GRCm39) |
D160G |
possibly damaging |
Het |
| Spa17 |
T |
C |
9: 37,514,689 (GRCm39) |
K133E |
probably damaging |
Het |
| Strbp |
T |
A |
2: 37,530,885 (GRCm39) |
D123V |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,936,180 (GRCm39) |
T3586A |
possibly damaging |
Het |
| Zfp518a |
T |
A |
19: 40,900,759 (GRCm39) |
H229Q |
probably damaging |
Het |
|
| Other mutations in Lgi4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01288:Lgi4
|
APN |
7 |
30,768,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01624:Lgi4
|
APN |
7 |
30,767,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02251:Lgi4
|
APN |
7 |
30,766,688 (GRCm39) |
splice site |
probably null |
|
|
IGL02755:Lgi4
|
APN |
7 |
30,762,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03153:Lgi4
|
APN |
7 |
30,759,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03392:Lgi4
|
APN |
7 |
30,762,605 (GRCm39) |
splice site |
probably null |
|
|
R0060:Lgi4
|
UTSW |
7 |
30,762,996 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2139:Lgi4
|
UTSW |
7 |
30,762,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Lgi4
|
UTSW |
7 |
30,760,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2277:Lgi4
|
UTSW |
7 |
30,760,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2278:Lgi4
|
UTSW |
7 |
30,760,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Lgi4
|
UTSW |
7 |
30,767,253 (GRCm39) |
nonsense |
probably null |
|
|
R3039:Lgi4
|
UTSW |
7 |
30,759,492 (GRCm39) |
missense |
probably benign |
|
|
R3922:Lgi4
|
UTSW |
7 |
30,766,873 (GRCm39) |
missense |
probably benign |
|
|
R4650:Lgi4
|
UTSW |
7 |
30,768,554 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5184:Lgi4
|
UTSW |
7 |
30,770,182 (GRCm39) |
unclassified |
probably benign |
|
|
R5583:Lgi4
|
UTSW |
7 |
30,760,562 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5837:Lgi4
|
UTSW |
7 |
30,770,208 (GRCm39) |
unclassified |
probably benign |
|
|
R5917:Lgi4
|
UTSW |
7 |
30,759,603 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6198:Lgi4
|
UTSW |
7 |
30,768,547 (GRCm39) |
splice site |
probably null |
|
|
R6454:Lgi4
|
UTSW |
7 |
30,759,557 (GRCm39) |
missense |
probably benign |
|
|
R6845:Lgi4
|
UTSW |
7 |
30,760,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6897:Lgi4
|
UTSW |
7 |
30,768,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7232:Lgi4
|
UTSW |
7 |
30,766,776 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7354:Lgi4
|
UTSW |
7 |
30,760,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8224:Lgi4
|
UTSW |
7 |
30,763,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8257:Lgi4
|
UTSW |
7 |
30,766,766 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8320:Lgi4
|
UTSW |
7 |
30,768,366 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8440:Lgi4
|
UTSW |
7 |
30,760,049 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8469:Lgi4
|
UTSW |
7 |
30,767,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Lgi4
|
UTSW |
7 |
30,759,446 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R9763:Lgi4
|
UTSW |
7 |
30,760,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Lgi4
|
UTSW |
7 |
30,768,596 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCAAGATCGAGAGGCATCCCAC -3'
(R):5'- TCTTTAAGAAGCTGCCAGCCTTCAG -3'
Sequencing Primer
(F):5'- CATCCCACGGAGATGTAGTG -3'
(R):5'- ATTCTGAGAGACCTTGGCAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation