Incidental Mutation 'IGL03153:Lgi4'
ID |
411141 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lgi4
|
Ensembl Gene |
ENSMUSG00000036560 |
Gene Name |
leucine-rich repeat LGI family, member 4 |
Synonyms |
clp |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03153
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
30758767-30770360 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 30759983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 60
(V60F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041579
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039775]
[ENSMUST00000039909]
[ENSMUST00000164725]
[ENSMUST00000169785]
[ENSMUST00000206474]
[ENSMUST00000205807]
[ENSMUST00000206305]
[ENSMUST00000205439]
|
AlphaFold |
Q8K1S1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039775
AA Change: V60F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041579 Gene: ENSMUSG00000036560 AA Change: V60F
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: ENSMUST00000206474
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205807
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206305
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206522
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205439
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
A |
G |
4: 62,465,563 (GRCm39) |
E419G |
possibly damaging |
Het |
Abcg3 |
A |
G |
5: 105,122,631 (GRCm39) |
|
probably benign |
Het |
Adam17 |
T |
C |
12: 21,395,698 (GRCm39) |
D256G |
probably damaging |
Het |
Adgrb3 |
G |
A |
1: 25,570,978 (GRCm39) |
R500* |
probably null |
Het |
Aldh3a2 |
A |
G |
11: 61,149,665 (GRCm39) |
Y234H |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,743,143 (GRCm39) |
T987A |
probably benign |
Het |
Amtn |
A |
G |
5: 88,532,828 (GRCm39) |
K148E |
possibly damaging |
Het |
Asap1 |
G |
A |
15: 64,032,123 (GRCm39) |
T237M |
probably damaging |
Het |
Ccdc124 |
A |
T |
8: 71,321,573 (GRCm39) |
|
probably null |
Het |
Cdon |
T |
C |
9: 35,389,255 (GRCm39) |
Y787H |
probably damaging |
Het |
Cimip4 |
T |
C |
15: 78,269,516 (GRCm39) |
D188G |
probably damaging |
Het |
Coro7 |
A |
G |
16: 4,453,246 (GRCm39) |
|
probably null |
Het |
Dram2 |
T |
A |
3: 106,462,490 (GRCm39) |
|
probably benign |
Het |
Drd5 |
T |
C |
5: 38,477,124 (GRCm39) |
V39A |
probably benign |
Het |
Ern1 |
A |
G |
11: 106,300,924 (GRCm39) |
L490P |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,483,160 (GRCm39) |
T3083A |
possibly damaging |
Het |
Irgm1 |
A |
G |
11: 48,757,094 (GRCm39) |
I239T |
probably damaging |
Het |
Klhl10 |
A |
T |
11: 100,347,758 (GRCm39) |
T605S |
probably benign |
Het |
Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
Lmf1 |
A |
G |
17: 25,804,624 (GRCm39) |
S97G |
possibly damaging |
Het |
Oasl2 |
A |
G |
5: 115,039,393 (GRCm39) |
T194A |
probably benign |
Het |
Or5ac17 |
A |
G |
16: 59,036,566 (GRCm39) |
S137P |
probably benign |
Het |
Pnpo |
A |
T |
11: 96,834,661 (GRCm39) |
F12I |
probably damaging |
Het |
Prdm4 |
T |
C |
10: 85,743,860 (GRCm39) |
T132A |
probably benign |
Het |
Ptbp2 |
T |
C |
3: 119,545,593 (GRCm39) |
T118A |
probably benign |
Het |
Ptf1a |
T |
A |
2: 19,451,456 (GRCm39) |
|
probably benign |
Het |
Rev3l |
T |
A |
10: 39,682,874 (GRCm39) |
F331I |
probably damaging |
Het |
Rfx6 |
C |
A |
10: 51,599,217 (GRCm39) |
S524* |
probably null |
Het |
Scube3 |
A |
G |
17: 28,386,032 (GRCm39) |
S758G |
possibly damaging |
Het |
Slc44a2 |
T |
C |
9: 21,254,496 (GRCm39) |
I257T |
probably benign |
Het |
Spon1 |
A |
T |
7: 113,629,579 (GRCm39) |
I408F |
probably damaging |
Het |
Srpk1 |
C |
A |
17: 28,811,240 (GRCm39) |
D541Y |
possibly damaging |
Het |
Tenm4 |
A |
T |
7: 96,522,969 (GRCm39) |
I1467F |
probably damaging |
Het |
Uggt1 |
A |
C |
1: 36,241,899 (GRCm39) |
V345G |
possibly damaging |
Het |
Vmn1r23 |
A |
T |
6: 57,902,917 (GRCm39) |
I287K |
probably damaging |
Het |
Whamm |
A |
G |
7: 81,239,280 (GRCm39) |
|
probably benign |
Het |
Zeb1 |
A |
G |
18: 5,770,511 (GRCm39) |
D888G |
probably damaging |
Het |
Zfp263 |
A |
G |
16: 3,564,744 (GRCm39) |
N253S |
possibly damaging |
Het |
Zfp446 |
C |
A |
7: 12,711,834 (GRCm39) |
A19E |
probably benign |
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 |
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 |
R0575:Lgi4
|
UTSW |
7 |
30,759,518 (GRCm39) |
missense |
probably benign |
0.12 |
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 |
|
Posted On |
2016-08-02 |