Incidental Mutation 'R6623:Lnx2'
ID |
524597 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lnx2
|
Ensembl Gene |
ENSMUSG00000016520 |
Gene Name |
ligand of numb-protein X 2 |
Synonyms |
|
MMRRC Submission |
044745-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R6623 (G1)
|
Quality Score |
180.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
146953465-147013385 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 146961297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 545
(V545A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016664
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016664]
|
AlphaFold |
Q91XL2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000016664
AA Change: V545A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000016664 Gene: ENSMUSG00000016520 AA Change: V545A
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 |
|
Meta Mutation Damage Score |
0.7059 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
Validation Efficiency |
100% (29/29) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,634,388 (GRCm39) |
K460E |
probably damaging |
Het |
Acaca |
A |
C |
11: 84,262,325 (GRCm39) |
|
probably null |
Het |
Adamts1 |
A |
G |
16: 85,592,525 (GRCm39) |
S628P |
probably benign |
Het |
Ankrd13a |
A |
G |
5: 114,924,818 (GRCm39) |
N101S |
probably benign |
Het |
Asic5 |
G |
A |
3: 81,915,892 (GRCm39) |
V281M |
probably damaging |
Het |
Atxn7 |
T |
C |
14: 14,099,972 (GRCm38) |
S553P |
probably damaging |
Het |
Cstdc2 |
A |
T |
2: 148,692,682 (GRCm39) |
I40K |
probably benign |
Het |
Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Homo |
Hmcn1 |
A |
G |
1: 150,634,057 (GRCm39) |
F843S |
probably benign |
Het |
Igkv10-96 |
T |
G |
6: 68,609,158 (GRCm39) |
S46R |
probably damaging |
Het |
Itfg2 |
G |
T |
6: 128,388,620 (GRCm39) |
A289D |
probably damaging |
Het |
Klc1 |
C |
A |
12: 111,772,475 (GRCm39) |
N597K |
probably damaging |
Het |
Map3k11 |
A |
G |
19: 5,745,631 (GRCm39) |
I344V |
probably damaging |
Het |
Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
Myrf |
C |
A |
19: 10,200,723 (GRCm39) |
A317S |
probably benign |
Het |
Ncoa2 |
A |
T |
1: 13,251,521 (GRCm39) |
C251S |
probably damaging |
Het |
Or52i2 |
T |
G |
7: 102,319,241 (GRCm39) |
M38R |
possibly damaging |
Het |
Pcdhb12 |
C |
T |
18: 37,570,711 (GRCm39) |
T619I |
possibly damaging |
Het |
Plxna1 |
A |
T |
6: 89,299,753 (GRCm39) |
M1672K |
probably damaging |
Het |
Prl |
G |
T |
13: 27,245,492 (GRCm39) |
V72L |
probably benign |
Het |
Prokr2 |
G |
T |
2: 132,215,494 (GRCm39) |
N161K |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,724,951 (GRCm39) |
D2454G |
probably damaging |
Het |
Slc2a12 |
T |
A |
10: 22,540,799 (GRCm39) |
M218K |
probably damaging |
Het |
Sorcs3 |
C |
T |
19: 48,776,944 (GRCm39) |
A992V |
probably benign |
Het |
Stxbp2 |
T |
C |
8: 3,682,561 (GRCm39) |
I50T |
probably damaging |
Het |
Supt20 |
A |
G |
3: 54,625,715 (GRCm39) |
I570M |
possibly damaging |
Het |
Sv2b |
T |
A |
7: 74,856,132 (GRCm39) |
I53F |
probably damaging |
Het |
Vmn1r113 |
T |
A |
7: 20,521,991 (GRCm39) |
M261K |
probably benign |
Het |
Vmn1r217 |
T |
A |
13: 23,298,846 (GRCm39) |
I19F |
possibly damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,474,500 (GRCm39) |
T843A |
probably benign |
Het |
Vmn2r69 |
T |
A |
7: 85,056,309 (GRCm39) |
I610L |
possibly damaging |
Het |
|
Other mutations in Lnx2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02593:Lnx2
|
APN |
5 |
146,969,825 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGCACTGGGTGAGTTAACC -3'
(R):5'- CCATCAATTAGTTGGCAAGCAG -3'
Sequencing Primer
(F):5'- CACTGGGTGAGTTAACCGTGTAAC -3'
(R):5'- AGGAGCTTCGGGGAGTCAC -3'
|
Posted On |
2018-06-22 |