Incidental Mutation 'R5917:Lgi4'
| ID |
461393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lgi4
|
| Ensembl Gene |
ENSMUSG00000036560 |
| Gene Name |
leucine-rich repeat LGI family, member 4 |
| Synonyms |
clp |
| MMRRC Submission |
044114-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5917 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30758767-30770360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30759603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 53
(T53M)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000039775
AA Change: T53M
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041579
Gene: ENSMUSG00000036560
AA Change: T53M
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,832,516 (GRCm39) |
R1153* |
probably null |
Het |
| Amdhd1 |
T |
C |
10: 93,360,332 (GRCm39) |
H409R |
possibly damaging |
Het |
| Anks1b |
C |
T |
10: 90,412,803 (GRCm39) |
|
probably benign |
Het |
| Ascc2 |
T |
C |
11: 4,631,506 (GRCm39) |
L649P |
probably benign |
Het |
| Chst15 |
A |
G |
7: 131,872,246 (GRCm39) |
F12L |
probably benign |
Het |
| Clec4a4 |
A |
T |
6: 122,981,017 (GRCm39) |
K83N |
probably benign |
Het |
| Comp |
T |
A |
8: 70,829,011 (GRCm39) |
|
probably null |
Het |
| Cryz |
T |
A |
3: 154,327,403 (GRCm39) |
S144T |
probably benign |
Het |
| Ctss |
A |
G |
3: 95,450,424 (GRCm39) |
D125G |
probably benign |
Het |
| Dact1 |
G |
T |
12: 71,365,456 (GRCm39) |
V746L |
possibly damaging |
Het |
| Dhx29 |
A |
G |
13: 113,099,377 (GRCm39) |
H1134R |
probably damaging |
Het |
| Dlgap4 |
A |
G |
2: 156,546,460 (GRCm39) |
D376G |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,615,749 (GRCm39) |
H1660L |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,512,808 (GRCm39) |
|
probably benign |
Het |
| Fbxo30 |
A |
T |
10: 11,165,262 (GRCm39) |
|
probably null |
Het |
| Fcrl2 |
T |
A |
3: 87,164,094 (GRCm39) |
H345L |
probably damaging |
Het |
| Galnt11 |
C |
A |
5: 25,452,670 (GRCm39) |
|
probably null |
Het |
| Il31ra |
A |
G |
13: 112,682,846 (GRCm39) |
C87R |
probably benign |
Het |
| Itga4 |
A |
T |
2: 79,117,442 (GRCm39) |
Q416L |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,461,666 (GRCm39) |
T806S |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 27,066,693 (GRCm39) |
S1063P |
probably damaging |
Het |
| Lama4 |
T |
A |
10: 38,924,028 (GRCm39) |
S479T |
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,686,789 (GRCm39) |
F533L |
probably damaging |
Het |
| Loxl1 |
A |
G |
9: 58,220,006 (GRCm39) |
L55P |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,135,697 (GRCm39) |
E1933G |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,409,912 (GRCm39) |
C447* |
probably null |
Het |
| Mmrn1 |
T |
C |
6: 60,950,134 (GRCm39) |
|
probably null |
Het |
| Or2a7 |
C |
T |
6: 43,151,646 (GRCm39) |
S242F |
probably damaging |
Het |
| Or4a66 |
A |
T |
2: 88,531,049 (GRCm39) |
I208N |
possibly damaging |
Het |
| Or4d1 |
A |
T |
11: 87,805,215 (GRCm39) |
N172K |
probably damaging |
Het |
| Otor |
A |
G |
2: 142,920,431 (GRCm39) |
I4M |
probably benign |
Het |
| P2rx3 |
A |
T |
2: 84,865,591 (GRCm39) |
V18E |
probably damaging |
Het |
| Pcdh7 |
T |
C |
5: 57,879,097 (GRCm39) |
V884A |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,442,619 (GRCm39) |
V643D |
probably damaging |
Het |
| Pelo |
A |
G |
13: 115,225,930 (GRCm39) |
S176P |
possibly damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,183 (GRCm39) |
V380E |
probably benign |
Het |
| Proc |
T |
A |
18: 32,260,513 (GRCm39) |
D204V |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,236,179 (GRCm39) |
F1500L |
probably damaging |
Het |
| Rtl1 |
T |
G |
12: 109,558,087 (GRCm39) |
T1251P |
possibly damaging |
Het |
| Sema6a |
T |
G |
18: 47,414,405 (GRCm39) |
I482L |
probably benign |
Het |
| Smpdl3a |
T |
A |
10: 57,681,654 (GRCm39) |
|
probably null |
Het |
| Strc |
T |
A |
2: 121,209,790 (GRCm39) |
M178L |
probably benign |
Het |
| Taok1 |
A |
T |
11: 77,451,144 (GRCm39) |
M312K |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,416,750 (GRCm39) |
|
probably null |
Het |
| Tle3 |
A |
G |
9: 61,316,190 (GRCm39) |
D296G |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,191,485 (GRCm39) |
D498G |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,231,491 (GRCm39) |
L672M |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,826,580 (GRCm39) |
T2866I |
probably damaging |
Het |
| Zfp423 |
C |
A |
8: 88,508,860 (GRCm39) |
E370* |
probably null |
Het |
| Zfp521 |
T |
A |
18: 13,978,612 (GRCm39) |
K600N |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,572 (GRCm39) |
K351E |
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,510 (GRCm39) |
|
probably null |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
|
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 |
|
|
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'- CCCACGGAGATGTAGTGATTTGG -3'
(R):5'- TACACATGTGGCCAAGGTCC -3'
Sequencing Primer
(F):5'- CTGGCAGTGTGGGGACAG -3'
(R):5'- CCAAATCCTGGAGTCTCA -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation