Incidental Mutation 'IGL01830:Nxpe2'
ID |
154745 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nxpe2
|
Ensembl Gene |
ENSMUSG00000032028 |
Gene Name |
neurexophilin and PC-esterase domain family, member 2 |
Synonyms |
Fam55b, 4432416J03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
IGL01830
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
48229303-48264749 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48237794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 154
(S154T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034527
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034527]
[ENSMUST00000135457]
[ENSMUST00000137976]
[ENSMUST00000215780]
[ENSMUST00000216998]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034527
AA Change: S154T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000034527 Gene: ENSMUSG00000032028 AA Change: S154T
Domain | Start | End | E-Value | Type |
transmembrane domain
|
22 |
39 |
N/A |
INTRINSIC |
Pfam:Neurexophilin
|
80 |
277 |
1.2e-18 |
PFAM |
low complexity region
|
307 |
316 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135457
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137976
AA Change: S154T
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000116684 Gene: ENSMUSG00000032028 AA Change: S154T
Domain | Start | End | E-Value | Type |
transmembrane domain
|
22 |
39 |
N/A |
INTRINSIC |
Pfam:Neurexophilin
|
99 |
187 |
2.1e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142667
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149185
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215780
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216998
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
C |
A |
16: 22,717,779 (GRCm39) |
P252Q |
probably damaging |
Het |
Anks4b |
T |
A |
7: 119,773,219 (GRCm39) |
N26K |
probably damaging |
Het |
Arrdc5 |
C |
T |
17: 56,601,652 (GRCm39) |
V158I |
probably damaging |
Het |
Catsper2 |
T |
C |
2: 121,237,843 (GRCm39) |
D179G |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,672,603 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
T |
A |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
Cep57l1 |
C |
T |
10: 41,604,649 (GRCm39) |
C160Y |
probably benign |
Het |
Chek2 |
T |
A |
5: 111,021,374 (GRCm39) |
L528Q |
probably benign |
Het |
Ciita |
T |
C |
16: 10,338,915 (GRCm39) |
L973P |
probably damaging |
Het |
Dock2 |
A |
T |
11: 34,582,744 (GRCm39) |
L637* |
probably null |
Het |
Fsip2 |
A |
C |
2: 82,815,273 (GRCm39) |
I3669L |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,578,968 (GRCm39) |
V1218A |
probably benign |
Het |
Gip |
T |
C |
11: 95,919,550 (GRCm39) |
L91S |
possibly damaging |
Het |
Gp2 |
T |
C |
7: 119,050,765 (GRCm39) |
D322G |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,442,636 (GRCm39) |
V177A |
probably damaging |
Het |
Kng2 |
T |
C |
16: 22,806,801 (GRCm39) |
D466G |
probably damaging |
Het |
Lpar5 |
G |
A |
6: 125,058,785 (GRCm39) |
A169T |
probably benign |
Het |
Med13 |
C |
T |
11: 86,179,754 (GRCm39) |
|
probably benign |
Het |
Meiob |
T |
A |
17: 25,054,105 (GRCm39) |
C391S |
probably benign |
Het |
Mgat5 |
A |
G |
1: 127,339,869 (GRCm39) |
T417A |
probably damaging |
Het |
Myo1b |
A |
T |
1: 51,836,624 (GRCm39) |
L279* |
probably null |
Het |
Myo1g |
T |
A |
11: 6,464,522 (GRCm39) |
K513* |
probably null |
Het |
Ogn |
C |
T |
13: 49,762,723 (GRCm39) |
Q22* |
probably null |
Het |
Or4c12 |
A |
G |
2: 89,773,775 (GRCm39) |
L228S |
probably benign |
Het |
Pacs2 |
A |
T |
12: 113,020,574 (GRCm39) |
K316* |
probably null |
Het |
Pelo |
T |
A |
13: 115,225,131 (GRCm39) |
I365F |
probably damaging |
Het |
Phf3 |
G |
A |
1: 30,853,148 (GRCm39) |
Q1021* |
probably null |
Het |
Pik3r4 |
A |
G |
9: 105,522,154 (GRCm39) |
D240G |
probably damaging |
Het |
Pknox1 |
T |
C |
17: 31,814,284 (GRCm39) |
M203T |
probably benign |
Het |
Pld1 |
T |
C |
3: 28,102,153 (GRCm39) |
|
probably benign |
Het |
Rabgef1 |
G |
T |
5: 130,240,907 (GRCm39) |
C342F |
possibly damaging |
Het |
Rbm19 |
A |
C |
5: 120,262,760 (GRCm39) |
K307T |
possibly damaging |
Het |
Sdcbp2 |
T |
A |
2: 151,431,494 (GRCm39) |
I289N |
probably damaging |
Het |
Slc5a12 |
G |
A |
2: 110,428,151 (GRCm39) |
G69R |
probably damaging |
Het |
Spag1 |
C |
A |
15: 36,221,705 (GRCm39) |
S599R |
probably benign |
Het |
Ubr4 |
A |
T |
4: 139,199,811 (GRCm39) |
D4565V |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
Vmn1r225 |
T |
C |
17: 20,722,717 (GRCm39) |
S53P |
probably damaging |
Het |
Xrcc1 |
T |
A |
7: 24,272,767 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Nxpe2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01414:Nxpe2
|
APN |
9 |
48,231,923 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02039:Nxpe2
|
APN |
9 |
48,230,959 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02618:Nxpe2
|
APN |
9 |
48,237,634 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03065:Nxpe2
|
APN |
9 |
48,230,992 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL03128:Nxpe2
|
APN |
9 |
48,230,798 (GRCm39) |
missense |
probably benign |
0.12 |
P4717OSA:Nxpe2
|
UTSW |
9 |
48,237,677 (GRCm39) |
missense |
probably benign |
0.08 |
R0019:Nxpe2
|
UTSW |
9 |
48,231,080 (GRCm39) |
missense |
probably benign |
0.37 |
R0172:Nxpe2
|
UTSW |
9 |
48,231,209 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0255:Nxpe2
|
UTSW |
9 |
48,251,870 (GRCm39) |
critical splice donor site |
probably null |
|
R0415:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R1061:Nxpe2
|
UTSW |
9 |
48,237,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R1248:Nxpe2
|
UTSW |
9 |
48,231,211 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1311:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R1393:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R1827:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R1828:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R1831:Nxpe2
|
UTSW |
9 |
48,237,452 (GRCm39) |
missense |
probably benign |
0.01 |
R1866:Nxpe2
|
UTSW |
9 |
48,238,121 (GRCm39) |
missense |
probably benign |
0.01 |
R1889:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R1892:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R1903:Nxpe2
|
UTSW |
9 |
48,230,906 (GRCm39) |
missense |
probably benign |
0.40 |
R1928:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R1959:Nxpe2
|
UTSW |
9 |
48,231,026 (GRCm39) |
missense |
probably benign |
0.06 |
R4594:Nxpe2
|
UTSW |
9 |
48,230,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R4697:Nxpe2
|
UTSW |
9 |
48,231,821 (GRCm39) |
missense |
probably benign |
0.03 |
R4909:Nxpe2
|
UTSW |
9 |
48,230,897 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5048:Nxpe2
|
UTSW |
9 |
48,237,388 (GRCm39) |
splice site |
probably null |
|
R5372:Nxpe2
|
UTSW |
9 |
48,250,819 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5614:Nxpe2
|
UTSW |
9 |
48,234,401 (GRCm39) |
missense |
probably benign |
0.30 |
R5762:Nxpe2
|
UTSW |
9 |
48,230,875 (GRCm39) |
missense |
probably benign |
0.02 |
R6151:Nxpe2
|
UTSW |
9 |
48,237,491 (GRCm39) |
missense |
probably benign |
0.01 |
R6958:Nxpe2
|
UTSW |
9 |
48,237,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R7130:Nxpe2
|
UTSW |
9 |
48,250,837 (GRCm39) |
missense |
probably benign |
0.00 |
R7138:Nxpe2
|
UTSW |
9 |
48,232,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R7250:Nxpe2
|
UTSW |
9 |
48,238,096 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7289:Nxpe2
|
UTSW |
9 |
48,234,339 (GRCm39) |
critical splice donor site |
probably null |
|
R7949:Nxpe2
|
UTSW |
9 |
48,234,397 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7973:Nxpe2
|
UTSW |
9 |
48,231,168 (GRCm39) |
missense |
probably damaging |
0.99 |
R8327:Nxpe2
|
UTSW |
9 |
48,231,059 (GRCm39) |
missense |
probably benign |
0.01 |
R8725:Nxpe2
|
UTSW |
9 |
48,238,073 (GRCm39) |
missense |
probably benign |
0.01 |
R8727:Nxpe2
|
UTSW |
9 |
48,238,073 (GRCm39) |
missense |
probably benign |
0.01 |
R9085:Nxpe2
|
UTSW |
9 |
48,250,872 (GRCm39) |
missense |
probably benign |
0.11 |
R9577:Nxpe2
|
UTSW |
9 |
48,237,632 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2014-02-04 |