Incidental Mutation 'R1119:Nxpe5'
ID |
97707 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nxpe5
|
Ensembl Gene |
ENSMUSG00000047592 |
Gene Name |
neurexophilin and PC-esterase domain family, member 5 |
Synonyms |
Fam55 related, BC055004 |
MMRRC Submission |
039192-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R1119 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
138224160-138251625 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 138237658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 61
(D61N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110929]
[ENSMUST00000159798]
[ENSMUST00000159964]
[ENSMUST00000161047]
[ENSMUST00000162519]
|
AlphaFold |
E0CX47 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000110929
AA Change: D73N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000106554 Gene: ENSMUSG00000047592 AA Change: D73N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
Pfam:Neurexophilin
|
57 |
263 |
4.2e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159798
AA Change: D73N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000124381 Gene: ENSMUSG00000047592 AA Change: D73N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
Pfam:Neurexophilin
|
57 |
263 |
4.2e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159964
AA Change: D74N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000123835 Gene: ENSMUSG00000047592 AA Change: D74N
Domain | Start | End | E-Value | Type |
Pfam:Neurexophilin
|
87 |
265 |
1.5e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161047
AA Change: D73N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000124929 Gene: ENSMUSG00000047592 AA Change: D73N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
Pfam:Neurexophilin
|
86 |
264 |
1.6e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162519
AA Change: D61N
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000124263 Gene: ENSMUSG00000047592 AA Change: D61N
Domain | Start | End | E-Value | Type |
Pfam:Neurexophilin
|
43 |
152 |
5.4e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
A |
C |
7: 82,189,525 (GRCm39) |
E583A |
probably damaging |
Het |
Aoah |
T |
A |
13: 21,099,108 (GRCm39) |
|
probably benign |
Het |
Atf7ip2 |
A |
G |
16: 10,058,476 (GRCm39) |
K305R |
possibly damaging |
Het |
Bltp1 |
T |
G |
3: 37,041,194 (GRCm39) |
V2524G |
probably damaging |
Het |
Cd200r2 |
A |
G |
16: 44,729,969 (GRCm39) |
N171S |
probably damaging |
Het |
Cfap57 |
G |
A |
4: 118,463,873 (GRCm39) |
Q327* |
probably null |
Het |
Ckap2l |
A |
T |
2: 129,114,492 (GRCm39) |
|
probably benign |
Het |
Cul2 |
A |
G |
18: 3,419,335 (GRCm39) |
|
probably benign |
Het |
Ddx60 |
G |
A |
8: 62,395,578 (GRCm39) |
V172M |
probably damaging |
Het |
Drp2 |
T |
C |
X: 133,342,071 (GRCm39) |
L545P |
probably damaging |
Het |
Ezh1 |
A |
G |
11: 101,101,361 (GRCm39) |
|
probably benign |
Het |
Gipc2 |
A |
G |
3: 151,799,833 (GRCm39) |
F299S |
probably damaging |
Het |
Gsk3b |
T |
C |
16: 38,028,346 (GRCm39) |
|
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hikeshi |
A |
G |
7: 89,584,938 (GRCm39) |
S89P |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,494,679 (GRCm39) |
A4137T |
possibly damaging |
Het |
Itprid1 |
T |
C |
6: 55,866,155 (GRCm39) |
F183L |
probably damaging |
Het |
Larp1b |
C |
A |
3: 40,987,963 (GRCm39) |
R62S |
possibly damaging |
Het |
Lgr5 |
A |
T |
10: 115,296,716 (GRCm39) |
|
probably null |
Het |
Lpin1 |
C |
A |
12: 16,613,722 (GRCm39) |
D449Y |
probably damaging |
Het |
Macrod2 |
A |
T |
2: 140,242,826 (GRCm39) |
I31L |
probably benign |
Het |
Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
Ndufa9 |
A |
T |
6: 126,799,031 (GRCm39) |
L362Q |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,083,862 (GRCm39) |
D572E |
probably benign |
Het |
Ogdh |
T |
A |
11: 6,290,544 (GRCm39) |
H376Q |
probably damaging |
Het |
P4ha3 |
T |
C |
7: 99,962,535 (GRCm39) |
I431T |
probably damaging |
Het |
Pcdhb14 |
G |
A |
18: 37,581,640 (GRCm39) |
V249M |
probably damaging |
Het |
Pcnp |
A |
G |
16: 55,844,754 (GRCm39) |
S49P |
probably damaging |
Het |
Pik3r6 |
C |
T |
11: 68,436,698 (GRCm39) |
T654I |
probably benign |
Het |
Rptn |
A |
G |
3: 93,303,552 (GRCm39) |
Y295C |
possibly damaging |
Het |
Sec16b |
A |
G |
1: 157,392,404 (GRCm39) |
D924G |
possibly damaging |
Het |
Setd1b |
C |
A |
5: 123,285,779 (GRCm39) |
T275K |
unknown |
Het |
Sgcb |
T |
A |
5: 73,801,757 (GRCm39) |
K36I |
probably damaging |
Het |
Smg7 |
A |
T |
1: 152,742,326 (GRCm39) |
|
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,695,619 (GRCm39) |
D599G |
possibly damaging |
Het |
Stk36 |
A |
G |
1: 74,671,925 (GRCm39) |
E875G |
probably benign |
Het |
Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
Tax1bp1 |
C |
A |
6: 52,718,933 (GRCm39) |
|
probably benign |
Het |
Thnsl1 |
A |
G |
2: 21,217,857 (GRCm39) |
N16S |
probably damaging |
Het |
Ticrr |
C |
T |
7: 79,343,701 (GRCm39) |
P1189S |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,904,017 (GRCm39) |
V1053M |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 44,031,556 (GRCm39) |
|
probably null |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,844,365 (GRCm39) |
Q576L |
possibly damaging |
Het |
Zfp62 |
G |
T |
11: 49,107,517 (GRCm39) |
R536L |
probably damaging |
Het |
Zfp958 |
A |
T |
8: 4,676,169 (GRCm39) |
N46Y |
possibly damaging |
Het |
|
Other mutations in Nxpe5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Nxpe5
|
APN |
5 |
138,247,096 (GRCm39) |
missense |
probably benign |
0.00 |
FR4737:Nxpe5
|
UTSW |
5 |
138,228,196 (GRCm39) |
start gained |
probably benign |
|
R0049:Nxpe5
|
UTSW |
5 |
138,249,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Nxpe5
|
UTSW |
5 |
138,249,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R0964:Nxpe5
|
UTSW |
5 |
138,238,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R1774:Nxpe5
|
UTSW |
5 |
138,237,797 (GRCm39) |
missense |
probably benign |
|
R1895:Nxpe5
|
UTSW |
5 |
138,249,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R3717:Nxpe5
|
UTSW |
5 |
138,249,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R4828:Nxpe5
|
UTSW |
5 |
138,228,795 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5268:Nxpe5
|
UTSW |
5 |
138,238,200 (GRCm39) |
nonsense |
probably null |
|
R5342:Nxpe5
|
UTSW |
5 |
138,237,503 (GRCm39) |
missense |
probably damaging |
0.97 |
R5607:Nxpe5
|
UTSW |
5 |
138,238,033 (GRCm39) |
missense |
probably benign |
0.00 |
R6966:Nxpe5
|
UTSW |
5 |
138,237,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Nxpe5
|
UTSW |
5 |
138,237,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R7196:Nxpe5
|
UTSW |
5 |
138,237,586 (GRCm39) |
missense |
probably benign |
0.30 |
R7427:Nxpe5
|
UTSW |
5 |
138,238,022 (GRCm39) |
missense |
probably damaging |
0.98 |
R7428:Nxpe5
|
UTSW |
5 |
138,238,022 (GRCm39) |
missense |
probably damaging |
0.98 |
R7548:Nxpe5
|
UTSW |
5 |
138,249,493 (GRCm39) |
missense |
probably benign |
0.29 |
R7823:Nxpe5
|
UTSW |
5 |
138,237,844 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8058:Nxpe5
|
UTSW |
5 |
138,237,573 (GRCm39) |
nonsense |
probably null |
|
R8094:Nxpe5
|
UTSW |
5 |
138,249,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R8293:Nxpe5
|
UTSW |
5 |
138,228,804 (GRCm39) |
missense |
probably benign |
0.20 |
R8303:Nxpe5
|
UTSW |
5 |
138,239,264 (GRCm39) |
unclassified |
probably benign |
|
R9372:Nxpe5
|
UTSW |
5 |
138,249,445 (GRCm39) |
missense |
probably benign |
0.00 |
R9483:Nxpe5
|
UTSW |
5 |
138,228,591 (GRCm39) |
start gained |
probably benign |
|
Z1088:Nxpe5
|
UTSW |
5 |
138,239,176 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Nxpe5
|
UTSW |
5 |
138,228,088 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCATGATGCCTTGGCCTGAGC -3'
(R):5'- TTTGCAGGACCCTAACTGCCTCAC -3'
Sequencing Primer
(F):5'- TGAGCCCATGATCCATTGG -3'
(R):5'- CAAGAGGTAAGTGCCATTCTTCAG -3'
|
Posted On |
2014-01-05 |