Incidental Mutation 'IGL03383:Nxpe3'
| ID |
420763 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nxpe3
|
| Ensembl Gene |
ENSMUSG00000075033 |
| Gene Name |
neurexophilin and PC-esterase domain family, member 3 |
| Synonyms |
Fam55c, LOC208684, LOC385658 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL03383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
55660316-55715648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55670076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 343
(D343G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099705]
|
| AlphaFold |
B9EKK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099705
AA Change: D343G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097296
Gene: ENSMUSG00000075033
AA Change: D343G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
73 |
284 |
2.9e-64 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl4 |
C |
T |
4: 111,514,620 (GRCm39) |
|
probably benign |
Het |
| Cit |
T |
C |
5: 116,011,904 (GRCm39) |
|
probably benign |
Het |
| Clmp |
A |
G |
9: 40,685,737 (GRCm39) |
N211S |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,330,722 (GRCm39) |
|
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,753,418 (GRCm39) |
|
probably benign |
Het |
| Dnajb9 |
C |
T |
12: 44,255,096 (GRCm39) |
|
probably benign |
Het |
| Ece2 |
T |
A |
16: 20,451,847 (GRCm39) |
N411K |
possibly damaging |
Het |
| Fshr |
A |
G |
17: 89,354,127 (GRCm39) |
I77T |
possibly damaging |
Het |
| Fshr |
A |
G |
17: 89,293,121 (GRCm39) |
M519T |
probably damaging |
Het |
| Gm10654 |
G |
A |
8: 71,384,775 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5093 |
A |
G |
17: 46,750,517 (GRCm39) |
I170T |
probably benign |
Het |
| Meis3 |
A |
G |
7: 15,917,744 (GRCm39) |
K299R |
probably damaging |
Het |
| Nxf1 |
T |
C |
19: 8,741,061 (GRCm39) |
F15L |
probably damaging |
Het |
| Or4a73 |
A |
T |
2: 89,420,656 (GRCm39) |
Y268N |
probably benign |
Het |
| Polr3k |
A |
G |
2: 181,507,820 (GRCm39) |
T65A |
probably damaging |
Het |
| Preb |
A |
T |
5: 31,115,665 (GRCm39) |
W222R |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,360,671 (GRCm39) |
I56T |
probably damaging |
Het |
| Rtkn2 |
A |
G |
10: 67,853,667 (GRCm39) |
T232A |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,318,064 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
A |
T |
2: 62,097,780 (GRCm39) |
K493M |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,991,777 (GRCm39) |
K112E |
probably damaging |
Het |
| Sugp1 |
A |
T |
8: 70,522,217 (GRCm39) |
|
probably benign |
Het |
| Tasor |
A |
G |
14: 27,163,918 (GRCm39) |
I235V |
possibly damaging |
Het |
| Tmem156 |
T |
C |
5: 65,233,040 (GRCm39) |
E139G |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,439,834 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
G |
A |
1: 169,986,460 (GRCm39) |
T174M |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,304,398 (GRCm39) |
T678A |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,222,556 (GRCm39) |
C555S |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,894,889 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
C |
16: 21,254,573 (GRCm39) |
|
probably null |
Het |
| Wee1 |
A |
G |
7: 109,738,899 (GRCm39) |
N590S |
probably damaging |
Het |
| Zfp112 |
C |
A |
7: 23,825,103 (GRCm39) |
S357Y |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,586,080 (GRCm39) |
K48* |
probably null |
Het |
| Zscan4d |
A |
G |
7: 10,896,692 (GRCm39) |
V226A |
probably benign |
Het |
|
| Other mutations in Nxpe3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00840:Nxpe3
|
APN |
16 |
55,664,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01743:Nxpe3
|
APN |
16 |
55,670,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02355:Nxpe3
|
APN |
16 |
55,710,949 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02362:Nxpe3
|
APN |
16 |
55,710,949 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02750:Nxpe3
|
APN |
16 |
55,680,738 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02792:Nxpe3
|
APN |
16 |
55,686,535 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0126:Nxpe3
|
UTSW |
16 |
55,686,592 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0348:Nxpe3
|
UTSW |
16 |
55,686,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0526:Nxpe3
|
UTSW |
16 |
55,686,880 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1752:Nxpe3
|
UTSW |
16 |
55,686,837 (GRCm39) |
missense |
probably benign |
|
|
R1830:Nxpe3
|
UTSW |
16 |
55,686,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2285:Nxpe3
|
UTSW |
16 |
55,686,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3196:Nxpe3
|
UTSW |
16 |
55,670,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4863:Nxpe3
|
UTSW |
16 |
55,669,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4922:Nxpe3
|
UTSW |
16 |
55,680,687 (GRCm39) |
missense |
probably benign |
|
|
R5308:Nxpe3
|
UTSW |
16 |
55,686,834 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5338:Nxpe3
|
UTSW |
16 |
55,686,706 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5539:Nxpe3
|
UTSW |
16 |
55,711,034 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5780:Nxpe3
|
UTSW |
16 |
55,686,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5877:Nxpe3
|
UTSW |
16 |
55,686,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Nxpe3
|
UTSW |
16 |
55,686,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6771:Nxpe3
|
UTSW |
16 |
55,686,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Nxpe3
|
UTSW |
16 |
55,664,685 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7660:Nxpe3
|
UTSW |
16 |
55,664,690 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8900:Nxpe3
|
UTSW |
16 |
55,665,023 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8925:Nxpe3
|
UTSW |
16 |
55,669,997 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8927:Nxpe3
|
UTSW |
16 |
55,669,997 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9599:Nxpe3
|
UTSW |
16 |
55,664,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nxpe3
|
UTSW |
16 |
55,686,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation