Incidental Mutation 'IGL00861:Nxph2'
| ID |
12817 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nxph2
|
| Ensembl Gene |
ENSMUSG00000069132 |
| Gene Name |
neurexophilin 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL00861
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23211258-23291985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23289974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 109
(F109I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102945]
|
| AlphaFold |
Q61199 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102945
AA Change: F109I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100009
Gene: ENSMUSG00000069132
AA Change: F109I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
50 |
261 |
7.9e-99 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adm2 |
G |
A |
15: 89,207,488 (GRCm39) |
|
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,601,271 (GRCm39) |
D189E |
possibly damaging |
Het |
| Atg16l1 |
G |
A |
1: 87,702,560 (GRCm39) |
G274S |
probably damaging |
Het |
| Cdh20 |
C |
A |
1: 109,988,718 (GRCm39) |
|
probably benign |
Het |
| Chat |
T |
C |
14: 32,170,980 (GRCm39) |
Y173C |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,434,096 (GRCm39) |
D874G |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,125,158 (GRCm39) |
|
probably null |
Het |
| Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
| Fut10 |
G |
T |
8: 31,725,733 (GRCm39) |
V163F |
probably damaging |
Het |
| Glmn |
A |
T |
5: 107,718,005 (GRCm39) |
M304K |
possibly damaging |
Het |
| Klra6 |
A |
G |
6: 130,000,663 (GRCm39) |
V47A |
possibly damaging |
Het |
| Lgi2 |
T |
C |
5: 52,695,463 (GRCm39) |
K491E |
probably benign |
Het |
| Lrrc72 |
T |
A |
12: 36,271,507 (GRCm39) |
Q138L |
probably benign |
Het |
| Nherf4 |
A |
G |
9: 44,160,933 (GRCm39) |
L211P |
possibly damaging |
Het |
| Oosp3 |
A |
G |
19: 11,689,004 (GRCm39) |
D84G |
probably benign |
Het |
| Poc1b |
C |
T |
10: 98,965,514 (GRCm39) |
R106C |
probably benign |
Het |
| Ptk2 |
A |
G |
15: 73,134,396 (GRCm39) |
S568P |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,276,453 (GRCm39) |
I1093V |
probably benign |
Het |
| Snx2 |
G |
A |
18: 53,343,869 (GRCm39) |
|
probably null |
Het |
| Washc5 |
G |
T |
15: 59,209,125 (GRCm39) |
T1033K |
probably damaging |
Het |
|
| Other mutations in Nxph2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00578:Nxph2
|
APN |
2 |
23,290,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00655:Nxph2
|
APN |
2 |
23,290,153 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01358:Nxph2
|
APN |
2 |
23,290,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01733:Nxph2
|
APN |
2 |
23,290,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01983:Nxph2
|
APN |
2 |
23,289,946 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02739:Nxph2
|
APN |
2 |
23,289,912 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02983:Nxph2
|
APN |
2 |
23,290,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03013:Nxph2
|
APN |
2 |
23,289,945 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4392:Nxph2
|
UTSW |
2 |
23,290,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4796:Nxph2
|
UTSW |
2 |
23,289,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4877:Nxph2
|
UTSW |
2 |
23,289,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5038:Nxph2
|
UTSW |
2 |
23,211,556 (GRCm39) |
splice site |
probably null |
|
|
R8057:Nxph2
|
UTSW |
2 |
23,290,107 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8461:Nxph2
|
UTSW |
2 |
23,211,529 (GRCm39) |
missense |
unknown |
|
|
R8869:Nxph2
|
UTSW |
2 |
23,290,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Nxph2
|
UTSW |
2 |
23,289,780 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9704:Nxph2
|
UTSW |
2 |
23,289,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF004:Nxph2
|
UTSW |
2 |
23,290,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nxph2
|
UTSW |
2 |
23,290,229 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2012-12-06 |
Incidental Mutation