Incidental Mutation 'R5797:Nxpe4'
ID |
447277 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nxpe4
|
Ensembl Gene |
ENSMUSG00000044229 |
Gene Name |
neurexophilin and PC-esterase domain family, member 4 |
Synonyms |
Fam55d, D930028F11Rik |
MMRRC Submission |
043209-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.289)
|
Stock # |
R5797 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
48073321-48311325 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 48307838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 314
(I314N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149644
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093853]
[ENSMUST00000215780]
[ENSMUST00000216998]
|
AlphaFold |
Q52KP5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093853
AA Change: I314N
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000091375 Gene: ENSMUSG00000044229 AA Change: I314N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
26 |
N/A |
INTRINSIC |
Pfam:Neurexophilin
|
74 |
272 |
8.9e-24 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215780
AA Change: I314N
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216998
AA Change: I314N
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217002
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
T |
C |
3: 40,887,986 (GRCm39) |
F277L |
probably benign |
Het |
Acsf2 |
A |
G |
11: 94,462,505 (GRCm39) |
V170A |
probably damaging |
Het |
Amz2 |
G |
T |
11: 109,317,905 (GRCm39) |
|
probably benign |
Het |
Atp4a |
A |
G |
7: 30,412,074 (GRCm39) |
Y65C |
probably damaging |
Het |
Canx |
T |
C |
11: 50,191,844 (GRCm39) |
I356V |
probably benign |
Het |
Cfap54 |
T |
A |
10: 92,803,438 (GRCm39) |
T1535S |
probably benign |
Het |
Cts3 |
A |
T |
13: 61,716,206 (GRCm39) |
W52R |
probably damaging |
Het |
Cyb5rl |
A |
T |
4: 106,941,404 (GRCm39) |
E276D |
possibly damaging |
Het |
Dhx30 |
T |
C |
9: 109,927,888 (GRCm39) |
N78S |
probably damaging |
Het |
Dmap1 |
A |
T |
4: 117,532,677 (GRCm39) |
V333E |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,898,450 (GRCm39) |
E3744G |
probably benign |
Het |
Efcab6 |
C |
T |
15: 83,808,478 (GRCm39) |
C828Y |
possibly damaging |
Het |
Fam227b |
A |
C |
2: 125,849,254 (GRCm39) |
I326S |
probably benign |
Het |
Fbrs |
C |
A |
7: 127,086,463 (GRCm39) |
H604Q |
probably damaging |
Het |
Fshr |
T |
G |
17: 89,318,503 (GRCm39) |
N129T |
probably damaging |
Het |
Gja3 |
T |
C |
14: 57,273,170 (GRCm39) |
R401G |
probably damaging |
Het |
Gm572 |
G |
A |
4: 148,751,255 (GRCm39) |
M209I |
probably benign |
Het |
Gne |
G |
A |
4: 44,060,030 (GRCm39) |
T121M |
probably damaging |
Het |
Gnmt |
T |
C |
17: 47,037,305 (GRCm39) |
N160D |
probably damaging |
Het |
Kalrn |
T |
C |
16: 34,032,619 (GRCm39) |
Y1125C |
probably damaging |
Het |
Kif2a |
A |
T |
13: 107,111,884 (GRCm39) |
C524S |
probably damaging |
Het |
Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
Lrrtm2 |
C |
T |
18: 35,346,759 (GRCm39) |
R181H |
probably damaging |
Het |
Mkln1 |
A |
G |
6: 31,410,004 (GRCm39) |
D214G |
probably benign |
Het |
Muc5b |
C |
A |
7: 141,405,319 (GRCm39) |
T909N |
unknown |
Het |
Myh13 |
T |
A |
11: 67,225,828 (GRCm39) |
D335E |
possibly damaging |
Het |
Myo5b |
A |
G |
18: 74,834,592 (GRCm39) |
E884G |
probably benign |
Het |
Naip1 |
T |
C |
13: 100,581,034 (GRCm39) |
D71G |
possibly damaging |
Het |
Pcnt |
T |
C |
10: 76,228,590 (GRCm39) |
E1525G |
probably benign |
Het |
Pkd1 |
T |
A |
17: 24,811,615 (GRCm39) |
H153Q |
possibly damaging |
Het |
Prkdc |
T |
A |
16: 15,555,698 (GRCm39) |
Y2157* |
probably null |
Het |
Scd3 |
T |
C |
19: 44,203,950 (GRCm39) |
I46T |
probably benign |
Het |
Sdha |
A |
T |
13: 74,482,476 (GRCm39) |
M279K |
probably damaging |
Het |
Slco4c1 |
A |
G |
1: 96,746,829 (GRCm39) |
V671A |
probably benign |
Het |
Slitrk3 |
T |
A |
3: 72,955,962 (GRCm39) |
T937S |
probably damaging |
Het |
Sncaip |
A |
T |
18: 53,031,276 (GRCm39) |
T442S |
probably benign |
Het |
Sptb |
T |
C |
12: 76,650,473 (GRCm39) |
D1748G |
possibly damaging |
Het |
Trmt9b |
A |
T |
8: 36,965,569 (GRCm39) |
K30* |
probably null |
Het |
Vmn2r12 |
A |
T |
5: 109,233,736 (GRCm39) |
C825* |
probably null |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CACATCAGAGGAAAGTTTTACTGAG -3'
(R):5'- AGCCTTGAATAGCTTATACTGAGAC -3'
Sequencing Primer
(F):5'- TCCAACGGGCTCTTTGAA -3'
(R):5'- CTGAGACATACTGTTGACTTTGC -3'
|
Posted On |
2016-12-15 |