Incidental Mutation 'IGL03229:Nxph1'
| ID |
413810 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nxph1
|
| Ensembl Gene |
ENSMUSG00000046178 |
| Gene Name |
neurexophilin 1 |
| Synonyms |
C130005L03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
IGL03229
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
8948431-9249032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9247830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 267
(Y267C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060369]
[ENSMUST00000160300]
|
| AlphaFold |
Q61200 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060369
AA Change: Y267C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060926
Gene: ENSMUSG00000046178
AA Change: Y267C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
63 |
271 |
1.2e-115 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160300
AA Change: Y267C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125274
Gene: ENSMUSG00000046178
AA Change: Y267C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
61 |
271 |
2.5e-115 |
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 is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation show no obvious morbidity, premature mortality, or anatomical defects. However, males exhibit sterility and testis abnormalities probably because homologous recombination results in co-insertion of the 5' part of the HSV-TK cassette into the targeted locus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,990,936 (GRCm39) |
I832T |
probably damaging |
Het |
| Adcyap1r1 |
T |
C |
6: 55,455,108 (GRCm39) |
S124P |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,612,704 (GRCm39) |
T238A |
probably benign |
Het |
| Coq4 |
A |
G |
2: 29,678,497 (GRCm39) |
D41G |
probably benign |
Het |
| Cpb1 |
A |
T |
3: 20,304,001 (GRCm39) |
Y354* |
probably null |
Het |
| Dip2b |
T |
C |
15: 100,105,719 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
C |
T |
9: 54,311,456 (GRCm39) |
R1755H |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,863,605 (GRCm39) |
|
probably benign |
Het |
| E2f7 |
T |
C |
10: 110,590,207 (GRCm39) |
V120A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,420 (GRCm39) |
I1580F |
possibly damaging |
Het |
| Gm9755 |
C |
A |
8: 67,967,324 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc6a |
T |
G |
10: 51,492,699 (GRCm39) |
N480T |
probably damaging |
Het |
| H2ac20 |
C |
T |
3: 96,127,953 (GRCm39) |
A70T |
probably damaging |
Het |
| H2-T9 |
C |
T |
17: 36,438,614 (GRCm39) |
G259E |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,357,909 (GRCm39) |
I331V |
probably benign |
Het |
| Heatr6 |
G |
T |
11: 83,672,271 (GRCm39) |
G1093V |
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,193,366 (GRCm39) |
E162G |
probably damaging |
Het |
| Nckipsd |
T |
C |
9: 108,688,813 (GRCm39) |
V116A |
probably benign |
Het |
| Nek10 |
A |
G |
14: 14,986,686 (GRCm38) |
H997R |
probably benign |
Het |
| Or14a256 |
T |
C |
7: 86,265,286 (GRCm39) |
D189G |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,360 (GRCm39) |
C241S |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,656,686 (GRCm39) |
V829E |
probably damaging |
Het |
| Prkcz |
A |
C |
4: 155,346,963 (GRCm39) |
S573A |
probably benign |
Het |
| Prl2c1 |
T |
A |
13: 28,040,612 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
A |
15: 36,015,925 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,130,057 (GRCm39) |
I1253F |
probably damaging |
Het |
| Tarm1 |
A |
G |
7: 3,545,413 (GRCm39) |
C146R |
probably damaging |
Het |
| Tor2a |
A |
T |
2: 32,649,704 (GRCm39) |
I189F |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,930,305 (GRCm39) |
L17Q |
probably damaging |
Het |
| Trim45 |
T |
A |
3: 100,830,385 (GRCm39) |
L53Q |
probably damaging |
Het |
| Ubr7 |
T |
C |
12: 102,735,414 (GRCm39) |
L291P |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,100,798 (GRCm39) |
V1878A |
probably damaging |
Het |
| Wdr90 |
T |
C |
17: 26,064,437 (GRCm39) |
|
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 53,013,811 (GRCm39) |
H42R |
probably benign |
Het |
| Zfp750 |
G |
A |
11: 121,403,778 (GRCm39) |
H366Y |
possibly damaging |
Het |
| Zmynd11 |
A |
G |
13: 9,739,601 (GRCm39) |
C462R |
probably damaging |
Het |
|
| Other mutations in Nxph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02017:Nxph1
|
APN |
6 |
9,247,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02256:Nxph1
|
APN |
6 |
9,247,185 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0305:Nxph1
|
UTSW |
6 |
9,247,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1722:Nxph1
|
UTSW |
6 |
9,247,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Nxph1
|
UTSW |
6 |
9,247,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2122:Nxph1
|
UTSW |
6 |
9,247,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2274:Nxph1
|
UTSW |
6 |
9,247,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Nxph1
|
UTSW |
6 |
9,247,765 (GRCm39) |
nonsense |
probably null |
|
|
R5715:Nxph1
|
UTSW |
6 |
9,247,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6048:Nxph1
|
UTSW |
6 |
9,247,103 (GRCm39) |
missense |
probably benign |
|
|
R7177:Nxph1
|
UTSW |
6 |
9,247,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8900:Nxph1
|
UTSW |
6 |
9,247,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8987:Nxph1
|
UTSW |
6 |
8,950,312 (GRCm39) |
splice site |
probably benign |
|
|
R9618:Nxph1
|
UTSW |
6 |
9,247,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9659:Nxph1
|
UTSW |
6 |
9,247,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9788:Nxph1
|
UTSW |
6 |
9,247,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:Nxph1
|
UTSW |
6 |
9,247,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation