Incidental Mutation 'IGL03392:Lgi4'
| ID |
421122 |
| 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 # |
IGL03392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30758767-30770360 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 30762605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039775]
[ENSMUST00000164725]
[ENSMUST00000167369]
[ENSMUST00000169785]
|
| AlphaFold |
Q8K1S1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039775
|
| SMART Domains |
Protein: ENSMUSP00000041579
Gene: ENSMUSG00000036560
| 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: ENSMUST00000164725
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167369
|
| SMART Domains |
Protein: ENSMUSP00000130245
Gene: ENSMUSG00000057092
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ATP1G1_PLM_MAT8
|
25 |
71 |
5.5e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169785
AA Change: V69I
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,403,931 (GRCm39) |
D692E |
probably damaging |
Het |
| Adgrb3 |
T |
A |
1: 25,543,529 (GRCm39) |
R366S |
probably damaging |
Het |
| Afg3l2 |
C |
A |
18: 67,547,139 (GRCm39) |
|
probably benign |
Het |
| Cd5 |
T |
C |
19: 10,703,653 (GRCm39) |
|
probably benign |
Het |
| Cnbd1 |
A |
G |
4: 18,862,111 (GRCm39) |
S360P |
probably damaging |
Het |
| Col13a1 |
A |
T |
10: 61,721,490 (GRCm39) |
L305I |
possibly damaging |
Het |
| Commd7 |
A |
T |
2: 153,464,684 (GRCm39) |
|
probably benign |
Het |
| Cpsf6 |
A |
T |
10: 117,203,884 (GRCm39) |
Y23N |
probably damaging |
Het |
| Cry1 |
A |
G |
10: 84,992,993 (GRCm39) |
V75A |
possibly damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,501,767 (GRCm39) |
N107D |
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,798,878 (GRCm39) |
V45E |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,385,907 (GRCm39) |
E310G |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,915,158 (GRCm39) |
I1597L |
probably benign |
Het |
| Fcamr |
A |
G |
1: 130,728,685 (GRCm39) |
|
probably benign |
Het |
| Fer |
A |
G |
17: 64,298,637 (GRCm39) |
I529V |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,351,826 (GRCm39) |
K1133R |
possibly damaging |
Het |
| Foxd3 |
A |
G |
4: 99,545,432 (GRCm39) |
K191E |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gbp8 |
A |
G |
5: 105,164,410 (GRCm39) |
|
probably null |
Het |
| Glb1 |
T |
G |
9: 114,259,389 (GRCm39) |
N106K |
probably damaging |
Het |
| Hpx |
A |
G |
7: 105,241,609 (GRCm39) |
I295T |
probably damaging |
Het |
| Ipo5 |
T |
A |
14: 121,180,099 (GRCm39) |
D844E |
probably damaging |
Het |
| Krt17 |
T |
C |
11: 100,150,561 (GRCm39) |
I159V |
possibly damaging |
Het |
| Lrrc49 |
T |
C |
9: 60,573,563 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,222,499 (GRCm39) |
K178R |
probably damaging |
Het |
| Myh8 |
T |
A |
11: 67,185,244 (GRCm39) |
W832R |
probably damaging |
Het |
| Nbn |
A |
G |
4: 15,962,362 (GRCm39) |
N30S |
probably damaging |
Het |
| Or2j3 |
A |
G |
17: 38,615,786 (GRCm39) |
S189P |
probably benign |
Het |
| Or4a72 |
A |
T |
2: 89,405,593 (GRCm39) |
V159D |
probably damaging |
Het |
| Or4f59 |
T |
A |
2: 111,873,321 (GRCm39) |
N19Y |
probably benign |
Het |
| Or51ai2 |
T |
C |
7: 103,587,232 (GRCm39) |
V215A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,460,104 (GRCm39) |
I1314F |
probably damaging |
Het |
| Phf14 |
G |
A |
6: 11,962,658 (GRCm39) |
S435N |
probably damaging |
Het |
| Prss45 |
T |
A |
9: 110,669,618 (GRCm39) |
Y231* |
probably null |
Het |
| Pus7l |
T |
C |
15: 94,434,449 (GRCm39) |
D339G |
probably damaging |
Het |
| Sbk2 |
A |
G |
7: 4,960,408 (GRCm39) |
F254S |
probably damaging |
Het |
| Serpina1b |
T |
G |
12: 103,698,329 (GRCm39) |
K173N |
possibly damaging |
Het |
| Slc13a5 |
G |
A |
11: 72,136,004 (GRCm39) |
T469I |
probably damaging |
Het |
| Spon1 |
A |
G |
7: 113,633,522 (GRCm39) |
E655G |
probably damaging |
Het |
| Sv2b |
T |
C |
7: 74,806,508 (GRCm39) |
|
probably null |
Het |
| Treh |
A |
G |
9: 44,597,228 (GRCm39) |
D514G |
probably damaging |
Het |
| Umodl1 |
T |
A |
17: 31,215,329 (GRCm39) |
L1051Q |
probably damaging |
Het |
| Usp5 |
A |
G |
6: 124,803,350 (GRCm39) |
F4S |
probably damaging |
Het |
| Vmn1r16 |
A |
G |
6: 57,299,879 (GRCm39) |
S248P |
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 |
|
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 |
Incidental Mutation