Incidental Mutation 'IGL01723:Nxpe4'
| ID |
105179 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nxpe4
|
| Ensembl Gene |
ENSMUSG00000044229 |
| Gene Name |
neurexophilin and PC-esterase domain family, member 4 |
| Synonyms |
Fam55d, D930028F11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.289)
|
| Stock # |
IGL01723
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
48073321-48311325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48309898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 387
(D387G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093853]
[ENSMUST00000215780]
[ENSMUST00000216998]
|
| AlphaFold |
Q52KP5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093853
AA Change: D387G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000091375
Gene: ENSMUSG00000044229
AA Change: D387G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
26 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
74 |
272 |
8.9e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215780
AA Change: D387G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217002
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,353,327 (GRCm39) |
A705V |
probably benign |
Het |
| Abcc10 |
A |
T |
17: 46,624,671 (GRCm39) |
C728S |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
| C030048H21Rik |
A |
G |
2: 26,144,780 (GRCm39) |
S1316P |
possibly damaging |
Het |
| Cd86 |
A |
G |
16: 36,427,486 (GRCm39) |
L281S |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,414,634 (GRCm39) |
P1170S |
probably benign |
Het |
| Col11a2 |
T |
A |
17: 34,280,254 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,504,091 (GRCm39) |
Q198L |
possibly damaging |
Het |
| Cyp2j12 |
A |
G |
4: 95,990,363 (GRCm39) |
V401A |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,442 (GRCm39) |
I257N |
probably damaging |
Het |
| Ddhd2 |
A |
T |
8: 26,225,038 (GRCm39) |
L593* |
probably null |
Het |
| Dnah8 |
T |
C |
17: 30,927,445 (GRCm39) |
L1367S |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,599,567 (GRCm39) |
V728M |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,363,060 (GRCm39) |
V447M |
probably damaging |
Het |
| Epx |
C |
T |
11: 87,760,228 (GRCm39) |
R462H |
probably damaging |
Het |
| Fgf18 |
T |
C |
11: 33,084,332 (GRCm39) |
T41A |
probably damaging |
Het |
| Fh1 |
G |
T |
1: 175,429,108 (GRCm39) |
A469D |
probably damaging |
Het |
| Hcn1 |
A |
C |
13: 118,112,591 (GRCm39) |
S852R |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,620,711 (GRCm39) |
S1166R |
probably benign |
Het |
| Krt78 |
C |
T |
15: 101,860,233 (GRCm39) |
G228S |
possibly damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,711,981 (GRCm39) |
E614G |
possibly damaging |
Het |
| Mettl9 |
T |
C |
7: 120,651,492 (GRCm39) |
I180T |
possibly damaging |
Het |
| Mgat2 |
A |
G |
12: 69,232,415 (GRCm39) |
T330A |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,872,534 (GRCm39) |
M938V |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,260,045 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
G |
A |
15: 8,364,555 (GRCm39) |
T1283I |
possibly damaging |
Het |
| Or1e23 |
T |
A |
11: 73,407,452 (GRCm39) |
D191V |
probably damaging |
Het |
| Or5aq1 |
A |
G |
2: 86,965,822 (GRCm39) |
V281A |
probably benign |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Pcnt |
C |
T |
10: 76,254,333 (GRCm39) |
R832H |
possibly damaging |
Het |
| Ptprd |
A |
C |
4: 76,161,910 (GRCm39) |
S108R |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,480,456 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
C |
T |
11: 53,879,671 (GRCm39) |
V463M |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,915 (GRCm39) |
H326L |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,899,715 (GRCm39) |
M188K |
possibly damaging |
Het |
|
| Other mutations in Nxpe4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01618:Nxpe4
|
APN |
9 |
48,305,440 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03008:Nxpe4
|
APN |
9 |
48,304,738 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03022:Nxpe4
|
APN |
9 |
48,304,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03271:Nxpe4
|
APN |
9 |
48,304,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0633:Nxpe4
|
UTSW |
9 |
48,307,897 (GRCm39) |
missense |
probably benign |
|
|
R1033:Nxpe4
|
UTSW |
9 |
48,304,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1186:Nxpe4
|
UTSW |
9 |
48,304,692 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1296:Nxpe4
|
UTSW |
9 |
48,307,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1596:Nxpe4
|
UTSW |
9 |
48,307,855 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1813:Nxpe4
|
UTSW |
9 |
48,304,678 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2511:Nxpe4
|
UTSW |
9 |
48,304,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2902:Nxpe4
|
UTSW |
9 |
48,305,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4229:Nxpe4
|
UTSW |
9 |
48,304,122 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4230:Nxpe4
|
UTSW |
9 |
48,304,122 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4231:Nxpe4
|
UTSW |
9 |
48,310,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4233:Nxpe4
|
UTSW |
9 |
48,310,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4236:Nxpe4
|
UTSW |
9 |
48,310,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Nxpe4
|
UTSW |
9 |
48,310,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5016:Nxpe4
|
UTSW |
9 |
48,304,185 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5644:Nxpe4
|
UTSW |
9 |
48,304,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5797:Nxpe4
|
UTSW |
9 |
48,307,838 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5979:Nxpe4
|
UTSW |
9 |
48,307,862 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6170:Nxpe4
|
UTSW |
9 |
48,304,104 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6208:Nxpe4
|
UTSW |
9 |
48,304,678 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6431:Nxpe4
|
UTSW |
9 |
48,304,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7475:Nxpe4
|
UTSW |
9 |
48,304,640 (GRCm39) |
nonsense |
probably null |
|
|
R8093:Nxpe4
|
UTSW |
9 |
48,307,852 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8103:Nxpe4
|
UTSW |
9 |
48,304,020 (GRCm39) |
missense |
probably benign |
|
|
R8185:Nxpe4
|
UTSW |
9 |
48,304,509 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8768:Nxpe4
|
UTSW |
9 |
48,304,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8774:Nxpe4
|
UTSW |
9 |
48,304,692 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8774-TAIL:Nxpe4
|
UTSW |
9 |
48,304,692 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8903:Nxpe4
|
UTSW |
9 |
48,310,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9064:Nxpe4
|
UTSW |
9 |
48,309,964 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9327:Nxpe4
|
UTSW |
9 |
48,309,984 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9682:Nxpe4
|
UTSW |
9 |
48,304,248 (GRCm39) |
missense |
probably benign |
0.16 |
|
X0062:Nxpe4
|
UTSW |
9 |
48,310,325 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation