Incidental Mutation 'IGL02251:Lgi4'
ID |
286410 |
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 # |
IGL02251
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
30758767-30770360 bp(+) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
A to G
at 30766688 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041579
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039775]
[ENSMUST00000072331]
[ENSMUST00000164725]
[ENSMUST00000169785]
[ENSMUST00000171359]
[ENSMUST00000167369]
|
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: ENSMUST00000072331
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072331
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164725
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165465
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165862
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186929
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186839
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169785
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169424
|
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 |
probably benign
Transcript: ENSMUST00000171359
|
SMART Domains |
Protein: ENSMUSP00000128610 Gene: ENSMUSG00000057092
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ATP1G1_PLM_MAT8
|
23 |
72 |
4.9e-30 |
PFAM |
|
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 |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
G |
7: 45,626,840 (GRCm39) |
C1406R |
probably damaging |
Het |
Acp2 |
T |
A |
2: 91,038,678 (GRCm39) |
|
probably null |
Het |
Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
Arhgef11 |
C |
T |
3: 87,590,854 (GRCm39) |
R32C |
probably damaging |
Het |
Armc6 |
A |
T |
8: 70,677,870 (GRCm39) |
L153* |
probably null |
Het |
Btnl2 |
G |
T |
17: 34,582,213 (GRCm39) |
G260* |
probably null |
Het |
Ccnf |
A |
G |
17: 24,445,513 (GRCm39) |
S551P |
probably benign |
Het |
Cdh19 |
A |
G |
1: 110,882,382 (GRCm39) |
S37P |
probably benign |
Het |
Cntnap3 |
T |
A |
13: 64,909,850 (GRCm39) |
T752S |
probably damaging |
Het |
Crispld1 |
A |
G |
1: 17,799,064 (GRCm39) |
M62V |
probably benign |
Het |
Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
Dph6 |
A |
G |
2: 114,366,004 (GRCm39) |
|
probably null |
Het |
Dpp3 |
T |
G |
19: 4,968,343 (GRCm39) |
H243P |
probably benign |
Het |
Eif3j2 |
T |
A |
18: 43,610,431 (GRCm39) |
K127N |
probably damaging |
Het |
Esrp1 |
G |
A |
4: 11,361,202 (GRCm39) |
R315C |
probably damaging |
Het |
Gm973 |
A |
C |
1: 59,621,582 (GRCm39) |
H574P |
probably benign |
Het |
Gprasp1 |
G |
A |
X: 134,701,288 (GRCm39) |
V494I |
probably benign |
Het |
Hbb-bh1 |
T |
A |
7: 103,492,017 (GRCm39) |
K66* |
probably null |
Het |
Hoxb9 |
T |
A |
11: 96,165,651 (GRCm39) |
M240K |
probably damaging |
Het |
Irf2 |
T |
C |
8: 47,260,788 (GRCm39) |
|
probably null |
Het |
Mylk3 |
C |
T |
8: 86,081,805 (GRCm39) |
V328M |
probably benign |
Het |
Nf2 |
T |
C |
11: 4,798,873 (GRCm39) |
E38G |
probably null |
Het |
Or4k40 |
A |
C |
2: 111,250,657 (GRCm39) |
L213R |
probably damaging |
Het |
Or51l14 |
A |
T |
7: 103,100,978 (GRCm39) |
K145* |
probably null |
Het |
Pdpk1 |
A |
G |
17: 24,298,612 (GRCm39) |
F346L |
probably damaging |
Het |
Prex1 |
T |
C |
2: 166,419,806 (GRCm39) |
Y1120C |
probably damaging |
Het |
Rab3gap1 |
A |
G |
1: 127,865,237 (GRCm39) |
T742A |
probably benign |
Het |
Scai |
A |
T |
2: 38,989,429 (GRCm39) |
D401E |
probably benign |
Het |
Scd1 |
T |
C |
19: 44,386,533 (GRCm39) |
H298R |
probably damaging |
Het |
Shld2 |
T |
C |
14: 33,990,235 (GRCm39) |
R224G |
probably benign |
Het |
Slc45a1 |
A |
G |
4: 150,723,176 (GRCm39) |
|
probably benign |
Het |
Smim10l1 |
G |
T |
6: 133,082,471 (GRCm39) |
R6L |
probably damaging |
Het |
Spag5 |
T |
G |
11: 78,210,860 (GRCm39) |
F921C |
probably damaging |
Het |
Sun1 |
T |
C |
5: 139,227,186 (GRCm39) |
S667P |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,732,524 (GRCm39) |
I278V |
probably benign |
Het |
Thbs1 |
G |
A |
2: 117,943,999 (GRCm39) |
D206N |
probably benign |
Het |
Trim37 |
T |
A |
11: 87,058,256 (GRCm39) |
|
probably benign |
Het |
Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,014,231 (GRCm39) |
N341S |
possibly damaging |
Het |
Zmat3 |
A |
G |
3: 32,399,732 (GRCm39) |
|
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 |
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 |
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 |
2015-04-16 |