Incidental Mutation 'IGL02593:Lnx2'
| ID |
299786 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lnx2
|
| Ensembl Gene |
ENSMUSG00000016520 |
| Gene Name |
ligand of numb-protein X 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL02593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
146953465-147013385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 146969825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 238
(S238P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016664]
|
| AlphaFold |
Q91XL2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016664
AA Change: S238P
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000016664
Gene: ENSMUSG00000016520
AA Change: S238P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
51 |
88 |
2.06e-6 |
SMART |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
PDZ
|
242 |
317 |
2.25e-17 |
SMART |
|
PDZ
|
348 |
421 |
2.97e-17 |
SMART |
|
PDZ
|
474 |
553 |
7.37e-13 |
SMART |
|
PDZ
|
606 |
683 |
1.27e-16 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
G |
T |
16: 22,711,078 (GRCm39) |
|
probably null |
Het |
| Bbs4 |
C |
T |
9: 59,235,880 (GRCm39) |
D232N |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,301,774 (GRCm39) |
|
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,833,504 (GRCm39) |
N554S |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,641,591 (GRCm39) |
I1652V |
probably benign |
Het |
| Golga4 |
T |
C |
9: 118,384,634 (GRCm39) |
|
probably benign |
Het |
| Idh3a |
T |
A |
9: 54,503,477 (GRCm39) |
|
probably benign |
Het |
| Jph2 |
T |
C |
2: 163,239,166 (GRCm39) |
Y94C |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,498,235 (GRCm39) |
I56V |
possibly damaging |
Het |
| Myo9b |
A |
C |
8: 71,743,417 (GRCm39) |
E159D |
probably damaging |
Het |
| Nkiras1 |
A |
G |
14: 18,278,475 (GRCm38) |
N63S |
possibly damaging |
Het |
| Nnmt |
A |
G |
9: 48,516,103 (GRCm39) |
|
probably null |
Het |
| Or13a22 |
G |
A |
7: 140,073,244 (GRCm39) |
R231H |
probably benign |
Het |
| P2ry10 |
T |
C |
X: 106,146,302 (GRCm39) |
I79T |
possibly damaging |
Het |
| Padi2 |
A |
G |
4: 140,677,153 (GRCm39) |
H647R |
probably damaging |
Het |
| Pate10 |
T |
A |
9: 35,653,438 (GRCm39) |
C81S |
possibly damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,628,037 (GRCm39) |
D166G |
probably benign |
Het |
| Scml2 |
T |
C |
X: 159,970,305 (GRCm39) |
V125A |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,863,021 (GRCm39) |
D556G |
probably damaging |
Het |
| Serpina3a |
G |
T |
12: 104,084,691 (GRCm39) |
V29L |
probably benign |
Het |
| Sgcz |
A |
T |
8: 37,990,432 (GRCm39) |
I307N |
probably damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,042,265 (GRCm39) |
V638I |
probably benign |
Het |
| Snx7 |
G |
A |
3: 117,633,609 (GRCm39) |
L84F |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,345,214 (GRCm39) |
D1693G |
probably damaging |
Het |
| Tm9sf5 |
G |
A |
X: 56,467,320 (GRCm39) |
D245N |
probably benign |
Het |
| Vmn2r7 |
C |
T |
3: 64,600,443 (GRCm39) |
C485Y |
probably damaging |
Het |
| Vmn2r-ps129 |
C |
T |
17: 23,211,770 (GRCm39) |
|
noncoding transcript |
Het |
| Zfyve9 |
A |
G |
4: 108,539,420 (GRCm39) |
V951A |
possibly damaging |
Het |
|
| Other mutations in Lnx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02657:Lnx2
|
APN |
5 |
146,964,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Lnx2
|
APN |
5 |
146,978,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0051:Lnx2
|
UTSW |
5 |
146,966,163 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0389:Lnx2
|
UTSW |
5 |
146,955,850 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0482:Lnx2
|
UTSW |
5 |
146,955,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1601:Lnx2
|
UTSW |
5 |
146,970,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1604:Lnx2
|
UTSW |
5 |
146,966,135 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1647:Lnx2
|
UTSW |
5 |
146,964,152 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3001:Lnx2
|
UTSW |
5 |
146,955,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3002:Lnx2
|
UTSW |
5 |
146,955,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4734:Lnx2
|
UTSW |
5 |
146,965,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Lnx2
|
UTSW |
5 |
146,955,850 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5387:Lnx2
|
UTSW |
5 |
146,964,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5689:Lnx2
|
UTSW |
5 |
146,965,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5950:Lnx2
|
UTSW |
5 |
146,961,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6161:Lnx2
|
UTSW |
5 |
146,978,836 (GRCm39) |
splice site |
probably null |
|
|
R6623:Lnx2
|
UTSW |
5 |
146,961,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Lnx2
|
UTSW |
5 |
146,956,988 (GRCm39) |
splice site |
probably null |
|
|
R7320:Lnx2
|
UTSW |
5 |
146,956,943 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7701:Lnx2
|
UTSW |
5 |
146,961,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Lnx2
|
UTSW |
5 |
146,955,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8153:Lnx2
|
UTSW |
5 |
146,964,906 (GRCm39) |
missense |
probably benign |
|
|
R8267:Lnx2
|
UTSW |
5 |
146,965,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8298:Lnx2
|
UTSW |
5 |
146,961,327 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8384:Lnx2
|
UTSW |
5 |
146,966,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8446:Lnx2
|
UTSW |
5 |
146,970,169 (GRCm39) |
missense |
probably benign |
|
|
R8971:Lnx2
|
UTSW |
5 |
146,970,236 (GRCm39) |
missense |
probably benign |
|
|
R9378:Lnx2
|
UTSW |
5 |
146,961,180 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9468:Lnx2
|
UTSW |
5 |
146,979,289 (GRCm39) |
start gained |
probably benign |
|
|
R9711:Lnx2
|
UTSW |
5 |
146,961,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation