Incidental Mutation 'R5184:Lgi4'
ID |
397750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lgi4
|
Ensembl Gene |
ENSMUSG00000036560 |
Gene Name |
leucine-rich repeat LGI family, member 4 |
Synonyms |
clp |
MMRRC Submission |
042763-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5184 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
30758767-30770360 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 30770182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128610
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039775]
[ENSMUST00000072331]
[ENSMUST00000171359]
[ENSMUST00000167369]
|
AlphaFold |
Q8K1S1 |
Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000165265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165465
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165862
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186839
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170456
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169424
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186929
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169313
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
98% (63/64) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aph1a |
T |
A |
3: 95,803,051 (GRCm39) |
|
probably null |
Het |
Arid3a |
A |
G |
10: 79,786,603 (GRCm39) |
E452G |
possibly damaging |
Het |
Barhl2 |
A |
G |
5: 106,605,506 (GRCm39) |
S68P |
unknown |
Het |
Carf |
T |
C |
1: 60,147,333 (GRCm39) |
S17P |
probably damaging |
Het |
Ccdc90b |
A |
G |
7: 92,224,019 (GRCm39) |
D145G |
probably damaging |
Het |
Cyp7a1 |
A |
T |
4: 6,271,207 (GRCm39) |
N316K |
probably benign |
Het |
Daam2 |
A |
G |
17: 49,801,419 (GRCm39) |
I106T |
possibly damaging |
Het |
Dmtf1 |
A |
G |
5: 9,176,641 (GRCm39) |
V437A |
probably benign |
Het |
E2f2 |
A |
T |
4: 135,911,751 (GRCm39) |
Y254F |
possibly damaging |
Het |
Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
Ern2 |
T |
C |
7: 121,779,182 (GRCm39) |
T221A |
probably benign |
Het |
Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
Fermt1 |
A |
G |
2: 132,783,883 (GRCm39) |
V42A |
possibly damaging |
Het |
Fgf3 |
A |
G |
7: 144,396,547 (GRCm39) |
D187G |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,901,945 (GRCm38) |
V936E |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,772,099 (GRCm39) |
Y1093H |
probably damaging |
Het |
Invs |
A |
G |
4: 48,283,242 (GRCm39) |
|
probably benign |
Het |
Katnb1 |
T |
A |
8: 95,824,608 (GRCm39) |
I534N |
possibly damaging |
Het |
Kcnq5 |
A |
T |
1: 21,472,711 (GRCm39) |
D826E |
probably damaging |
Het |
Klra9 |
A |
T |
6: 130,165,675 (GRCm39) |
N113K |
probably benign |
Het |
Knl1 |
A |
G |
2: 118,899,657 (GRCm39) |
K453E |
probably damaging |
Het |
Lpin3 |
A |
G |
2: 160,739,058 (GRCm39) |
S289G |
probably benign |
Het |
Mapre1 |
T |
A |
2: 153,599,987 (GRCm39) |
V137E |
possibly damaging |
Het |
Mark4 |
A |
G |
7: 19,181,168 (GRCm39) |
F144L |
possibly damaging |
Het |
Mogat2 |
G |
T |
7: 98,872,842 (GRCm39) |
A114E |
possibly damaging |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Nell2 |
A |
G |
15: 95,425,690 (GRCm39) |
L19P |
possibly damaging |
Het |
Nfia |
A |
T |
4: 97,671,585 (GRCm39) |
K98N |
probably damaging |
Het |
Nutm1 |
T |
A |
2: 112,079,345 (GRCm39) |
T857S |
possibly damaging |
Het |
Or14a257 |
TG |
T |
7: 86,138,499 (GRCm39) |
|
probably null |
Het |
Or52a5 |
T |
C |
7: 103,426,611 (GRCm39) |
K314E |
probably benign |
Het |
Or8g17 |
T |
A |
9: 38,929,998 (GRCm39) |
I280F |
probably damaging |
Het |
Pde10a |
T |
C |
17: 9,195,987 (GRCm39) |
L706P |
probably damaging |
Het |
Penk |
A |
G |
4: 4,134,296 (GRCm39) |
L117P |
probably damaging |
Het |
Pgap1 |
A |
G |
1: 54,521,015 (GRCm39) |
S876P |
probably damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,254,399 (GRCm39) |
I478T |
possibly damaging |
Het |
Pole |
G |
A |
5: 110,442,800 (GRCm39) |
E318K |
possibly damaging |
Het |
Prr12 |
C |
A |
7: 44,695,801 (GRCm39) |
V1222L |
unknown |
Het |
Prune2 |
T |
C |
19: 17,193,721 (GRCm39) |
S3070P |
possibly damaging |
Het |
Rnf19a |
A |
G |
15: 36,244,342 (GRCm39) |
C573R |
probably benign |
Het |
Rp1l1 |
T |
C |
14: 64,267,629 (GRCm39) |
S1072P |
probably damaging |
Het |
Rskr |
T |
C |
11: 78,183,573 (GRCm39) |
F194L |
probably benign |
Het |
Semp2l1 |
A |
T |
1: 32,584,729 (GRCm39) |
C394S |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,261,850 (GRCm39) |
N315S |
possibly damaging |
Het |
Snph |
T |
C |
2: 151,436,464 (GRCm39) |
I86V |
probably damaging |
Het |
Sox6 |
A |
G |
7: 115,376,463 (GRCm39) |
Y90H |
probably damaging |
Het |
Tbc1d13 |
T |
A |
2: 30,032,323 (GRCm39) |
C145S |
probably benign |
Het |
Tcp11l1 |
T |
C |
2: 104,530,289 (GRCm39) |
E65G |
probably damaging |
Het |
Thrb |
G |
T |
14: 18,011,181 (GRCm38) |
E186* |
probably null |
Het |
Tmem101 |
A |
G |
11: 102,047,059 (GRCm39) |
Y38H |
possibly damaging |
Het |
Trarg1 |
T |
A |
11: 76,571,134 (GRCm39) |
L50Q |
probably damaging |
Het |
Urb1 |
A |
T |
16: 90,580,162 (GRCm39) |
|
probably null |
Het |
Usp10 |
G |
A |
8: 120,683,420 (GRCm39) |
V764I |
possibly damaging |
Het |
Usp25 |
A |
G |
16: 76,906,115 (GRCm39) |
E857G |
probably benign |
Het |
Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
Wdr35 |
T |
C |
12: 9,068,142 (GRCm39) |
L775P |
probably damaging |
Het |
Xpnpep1 |
T |
C |
19: 53,001,845 (GRCm39) |
T134A |
probably benign |
Het |
Zbtb10 |
T |
C |
3: 9,329,731 (GRCm39) |
V363A |
probably damaging |
Het |
Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
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 |
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 |
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'- AAAGAGCCTGCTACCACGAG -3'
(R):5'- AGCCTGAGACTCCTTTAGCC -3'
Sequencing Primer
(F):5'- TGCTACCACGAGGGGTG -3'
(R):5'- TGAGACTCCTTTAGCCCTGAGG -3'
|
Posted On |
2016-07-06 |