Incidental Mutation 'IGL02017:Nxph1'
| ID |
183784 |
| 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 # |
IGL02017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
8948431-9249032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9247743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 238
(I238T)
|
| 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: I238T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060926
Gene: ENSMUSG00000046178
AA Change: I238T
| 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: I238T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125274
Gene: ENSMUSG00000046178
AA Change: I238T
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,271,775 (GRCm39) |
I544N |
probably benign |
Het |
| Ago2 |
T |
C |
15: 72,998,366 (GRCm39) |
T271A |
probably benign |
Het |
| Aox3 |
A |
C |
1: 58,160,151 (GRCm39) |
K111N |
probably damaging |
Het |
| Arhgap39 |
G |
A |
15: 76,621,237 (GRCm39) |
R455C |
probably damaging |
Het |
| Brcc3 |
A |
G |
X: 74,466,389 (GRCm39) |
D67G |
possibly damaging |
Het |
| Crot |
T |
G |
5: 9,020,046 (GRCm39) |
|
probably benign |
Het |
| Dipk1c |
A |
T |
18: 84,754,950 (GRCm39) |
D142V |
probably damaging |
Het |
| Dusp5 |
A |
G |
19: 53,525,937 (GRCm39) |
H193R |
probably damaging |
Het |
| Ect2 |
G |
A |
3: 27,176,193 (GRCm39) |
R644* |
probably null |
Het |
| Epn3 |
A |
G |
11: 94,385,852 (GRCm39) |
S190P |
probably benign |
Het |
| Fam3c |
A |
G |
6: 22,343,276 (GRCm39) |
M1T |
probably null |
Het |
| Kif4 |
A |
G |
X: 99,681,960 (GRCm39) |
N197S |
probably benign |
Het |
| Krt1c |
T |
C |
15: 101,724,939 (GRCm39) |
N224D |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,071,720 (GRCm39) |
H869R |
probably benign |
Het |
| Lrrc14 |
G |
T |
15: 76,597,942 (GRCm39) |
R224L |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,393,724 (GRCm39) |
D864G |
probably damaging |
Het |
| Map3k11 |
C |
T |
19: 5,747,651 (GRCm39) |
S603F |
possibly damaging |
Het |
| Mxra7 |
A |
G |
11: 116,702,747 (GRCm39) |
|
probably null |
Het |
| Myo5b |
C |
A |
18: 74,850,070 (GRCm39) |
D1139E |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,376,697 (GRCm39) |
Y228C |
probably damaging |
Het |
| Or2r11 |
T |
C |
6: 42,437,758 (GRCm39) |
H65R |
probably benign |
Het |
| Or5ac17 |
A |
G |
16: 59,036,310 (GRCm39) |
L222P |
probably damaging |
Het |
| Or9i1 |
T |
A |
19: 13,839,595 (GRCm39) |
V146E |
possibly damaging |
Het |
| Pdpn |
A |
G |
4: 142,997,140 (GRCm39) |
|
probably benign |
Het |
| Plbd2 |
T |
C |
5: 120,626,623 (GRCm39) |
T329A |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,709,449 (GRCm39) |
D8G |
probably damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,631,239 (GRCm39) |
D16G |
possibly damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,768,585 (GRCm39) |
E68G |
probably damaging |
Het |
| Snph |
G |
A |
2: 151,442,902 (GRCm39) |
R16C |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
| Vmn1r18 |
G |
A |
6: 57,366,741 (GRCm39) |
A271V |
probably benign |
Het |
|
| Other mutations in Nxph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02256:Nxph1
|
APN |
6 |
9,247,185 (GRCm39) |
missense |
probably benign |
0.13 |
|
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 |
2014-05-07 |
Incidental Mutation