Incidental Mutation 'IGL02256:Nxph1'
| ID |
286581 |
| 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: 0.598)
|
| Stock # |
IGL02256
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
8948431-9249032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9247185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 52
(D52G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060369]
[ENSMUST00000160300]
|
| AlphaFold |
Q61200 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060369
AA Change: D52G
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000060926
Gene: ENSMUSG00000046178
AA Change: D52G
| 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 benign
Transcript: ENSMUST00000160300
AA Change: D52G
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125274
Gene: ENSMUSG00000046178
AA Change: D52G
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambra1 |
T |
A |
2: 91,599,399 (GRCm39) |
V173E |
possibly damaging |
Het |
| Dennd4c |
A |
G |
4: 86,717,778 (GRCm39) |
T592A |
probably damaging |
Het |
| Dhcr24 |
G |
A |
4: 106,429,517 (GRCm39) |
G197S |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,403,369 (GRCm39) |
Y40C |
probably damaging |
Het |
| Fbxl17 |
A |
C |
17: 63,806,085 (GRCm39) |
C310G |
probably benign |
Het |
| H2bc8 |
G |
T |
13: 23,755,609 (GRCm39) |
M1I |
probably null |
Het |
| Hdac10 |
T |
C |
15: 89,010,097 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
A |
G |
1: 128,263,465 (GRCm39) |
|
probably null |
Het |
| Mrpl19 |
G |
A |
6: 81,941,300 (GRCm39) |
T87I |
probably benign |
Het |
| Mzf1 |
A |
G |
7: 12,786,664 (GRCm39) |
|
probably benign |
Het |
| Nhlrc2 |
A |
G |
19: 56,585,793 (GRCm39) |
E676G |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,351,298 (GRCm39) |
D1899G |
probably damaging |
Het |
| Or10g9b |
A |
G |
9: 39,917,349 (GRCm39) |
F299L |
probably benign |
Het |
| Or10j2 |
A |
T |
1: 173,098,194 (GRCm39) |
I151F |
probably benign |
Het |
| Or2aj6 |
T |
C |
16: 19,443,756 (GRCm39) |
I31M |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b3b |
A |
T |
9: 38,584,776 (GRCm39) |
M1K |
probably null |
Het |
| Or8b49 |
G |
A |
9: 38,505,840 (GRCm39) |
V108I |
probably benign |
Het |
| Pax6 |
T |
C |
2: 105,515,115 (GRCm39) |
V54A |
probably benign |
Het |
| Pbx1 |
A |
T |
1: 168,011,171 (GRCm39) |
H376Q |
possibly damaging |
Het |
| Prpf4b |
T |
A |
13: 35,083,861 (GRCm39) |
C877S |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,336,649 (GRCm39) |
L373P |
probably damaging |
Het |
| Samd9l |
G |
A |
6: 3,376,197 (GRCm39) |
R355W |
probably damaging |
Het |
| Smarce1 |
A |
T |
11: 99,110,206 (GRCm39) |
N127K |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,070,990 (GRCm39) |
I1511V |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,863,549 (GRCm39) |
R2071H |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,070,311 (GRCm39) |
C2492S |
possibly damaging |
Het |
| Tbr1 |
C |
A |
2: 61,635,218 (GRCm39) |
T56N |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,668,149 (GRCm39) |
Y890* |
probably null |
Het |
| Tlr6 |
T |
C |
5: 65,112,287 (GRCm39) |
T207A |
probably benign |
Het |
| Tmem241 |
A |
G |
18: 12,246,489 (GRCm39) |
W54R |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,208,377 (GRCm39) |
V326A |
probably damaging |
Het |
| Trappc14 |
C |
A |
5: 138,258,577 (GRCm39) |
D557Y |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,323,669 (GRCm39) |
D372G |
possibly damaging |
Het |
| Zc3h7a |
A |
C |
16: 10,965,140 (GRCm39) |
S664R |
probably benign |
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 |
|
IGL03229:Nxph1
|
APN |
6 |
9,247,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation