Incidental Mutation 'IGL03022:Nxpe4'
| ID |
408009 |
| 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: 0.262)
|
| Stock # |
IGL03022
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
48073321-48311325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48304548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 212
(S212P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093853]
[ENSMUST00000215780]
[ENSMUST00000216998]
|
| AlphaFold |
Q52KP5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093853
AA Change: S212P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091375
Gene: ENSMUSG00000044229
AA Change: S212P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
26 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
74 |
272 |
8.9e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215780
AA Change: S212P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216998
AA Change: S212P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217002
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2b |
G |
T |
9: 119,256,587 (GRCm39) |
R40L |
probably benign |
Het |
| Asph |
T |
C |
4: 9,517,668 (GRCm39) |
N402D |
possibly damaging |
Het |
| Brip1 |
T |
C |
11: 85,968,776 (GRCm39) |
Y803C |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,170,234 (GRCm39) |
|
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,859,714 (GRCm39) |
T85A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,448 (GRCm39) |
M289V |
probably benign |
Het |
| Fam193b |
T |
C |
13: 55,691,475 (GRCm39) |
N429S |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,395,379 (GRCm39) |
Y351C |
possibly damaging |
Het |
| Fryl |
G |
A |
5: 73,216,726 (GRCm39) |
A2188V |
possibly damaging |
Het |
| Gtf2f1 |
C |
T |
17: 57,317,971 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
C |
3: 82,016,404 (GRCm39) |
K195E |
probably benign |
Het |
| H2-Oa |
T |
C |
17: 34,313,023 (GRCm39) |
V100A |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,427,614 (GRCm39) |
K310N |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,825,439 (GRCm39) |
S254P |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,566,761 (GRCm39) |
S516P |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,645,225 (GRCm39) |
D1139G |
probably damaging |
Het |
| Or1ab2 |
A |
C |
8: 72,863,968 (GRCm39) |
K186T |
probably damaging |
Het |
| Or5d47 |
C |
T |
2: 87,804,341 (GRCm39) |
V223I |
probably benign |
Het |
| Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
| Pdgfd |
T |
C |
9: 6,288,495 (GRCm39) |
Y50H |
probably damaging |
Het |
| Prkaca |
A |
G |
8: 84,721,976 (GRCm39) |
D329G |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,858,559 (GRCm39) |
|
probably benign |
Het |
| Sele |
A |
G |
1: 163,882,248 (GRCm39) |
T578A |
probably benign |
Het |
| Shroom2 |
A |
G |
X: 151,443,089 (GRCm39) |
V692A |
probably benign |
Het |
| Stxbp3 |
G |
A |
3: 108,708,072 (GRCm39) |
L410F |
probably damaging |
Het |
| Tcaf1 |
C |
A |
6: 42,655,060 (GRCm39) |
G553* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,576,862 (GRCm39) |
T24677M |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,755,967 (GRCm39) |
L13H |
probably damaging |
Het |
| Zfp106 |
C |
A |
2: 120,359,120 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
A |
G |
11: 73,973,800 (GRCm39) |
D23G |
possibly damaging |
Het |
| Zfp84 |
T |
C |
7: 29,474,759 (GRCm39) |
|
probably benign |
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 |
|
IGL01723:Nxpe4
|
APN |
9 |
48,309,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03008:Nxpe4
|
APN |
9 |
48,304,738 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2016-08-02 |
Incidental Mutation