Incidental Mutation 'R4230:Nxpe4'
ID |
320796 |
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 |
041049-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.289)
|
Stock # |
R4230 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
48073321-48311325 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48304122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 70
(R70G)
|
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: R70G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000091375 Gene: ENSMUSG00000044229 AA Change: R70G
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: R70G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216998
AA Change: R70G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217002
|
Meta Mutation Damage Score |
0.2739 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Alg11 |
T |
A |
8: 22,555,534 (GRCm39) |
I223N |
probably damaging |
Het |
Ankrd26 |
G |
C |
6: 118,536,349 (GRCm39) |
|
probably null |
Het |
Apbb1 |
T |
C |
7: 105,216,891 (GRCm39) |
D264G |
probably damaging |
Het |
Arhgap32 |
T |
C |
9: 32,168,770 (GRCm39) |
Y918H |
probably benign |
Het |
Astn2 |
T |
G |
4: 65,829,919 (GRCm39) |
T584P |
probably damaging |
Het |
Atxn7 |
G |
A |
14: 14,100,381 (GRCm38) |
S689N |
probably benign |
Het |
Cacna1h |
T |
C |
17: 25,606,837 (GRCm39) |
N873S |
probably damaging |
Het |
Cadps |
T |
A |
14: 12,488,987 (GRCm38) |
I857F |
probably damaging |
Het |
Cfap119 |
T |
A |
7: 127,186,002 (GRCm39) |
M102L |
probably benign |
Het |
Cog6 |
T |
C |
3: 52,900,229 (GRCm39) |
T511A |
probably benign |
Het |
Dppa3 |
A |
T |
6: 122,606,291 (GRCm39) |
N118I |
probably damaging |
Het |
Dst |
A |
G |
1: 34,234,909 (GRCm39) |
N3663D |
probably benign |
Het |
Eif1ad14 |
A |
T |
12: 87,886,567 (GRCm39) |
S21T |
unknown |
Het |
Eme1 |
G |
A |
11: 94,538,818 (GRCm39) |
T354M |
possibly damaging |
Het |
Gm10735 |
T |
C |
13: 113,177,743 (GRCm39) |
|
probably benign |
Het |
Ifi44l |
A |
T |
3: 151,468,514 (GRCm39) |
C5* |
probably null |
Het |
Itln1 |
G |
A |
1: 171,362,375 (GRCm39) |
T2I |
probably benign |
Het |
Jam2 |
T |
A |
16: 84,618,180 (GRCm39) |
M309K |
possibly damaging |
Het |
Kcnk5 |
C |
A |
14: 20,194,852 (GRCm39) |
C162F |
probably damaging |
Het |
Metrn |
A |
G |
17: 26,015,915 (GRCm39) |
|
probably benign |
Het |
Muc5b |
T |
A |
7: 141,417,259 (GRCm39) |
Y3402N |
probably benign |
Het |
Ncoa7 |
A |
T |
10: 30,574,253 (GRCm39) |
|
probably null |
Het |
Onecut3 |
T |
C |
10: 80,349,793 (GRCm39) |
I429T |
probably damaging |
Het |
Or2n1 |
A |
C |
17: 38,486,772 (GRCm39) |
I266L |
possibly damaging |
Het |
Or2z9 |
T |
C |
8: 72,854,188 (GRCm39) |
Y195H |
probably damaging |
Het |
Or4k37 |
T |
G |
2: 111,159,475 (GRCm39) |
L237R |
probably damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,801 (GRCm39) |
I46N |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,787,329 (GRCm39) |
S858P |
possibly damaging |
Het |
Phf11c |
A |
T |
14: 59,630,516 (GRCm39) |
V63E |
probably benign |
Het |
Rasa3 |
A |
G |
8: 13,620,264 (GRCm39) |
F802L |
possibly damaging |
Het |
Sec24b |
G |
T |
3: 129,834,368 (GRCm39) |
Q141K |
probably benign |
Het |
Sec61a1 |
A |
T |
6: 88,492,413 (GRCm39) |
|
probably null |
Het |
Slc45a3 |
T |
A |
1: 131,909,399 (GRCm39) |
L532Q |
probably damaging |
Het |
Slc46a2 |
T |
C |
4: 59,914,048 (GRCm39) |
I292V |
probably benign |
Het |
Smg1 |
C |
T |
7: 117,747,956 (GRCm39) |
|
probably null |
Het |
Spag6 |
T |
A |
2: 18,720,449 (GRCm39) |
|
probably null |
Het |
Spi1 |
T |
C |
2: 90,945,680 (GRCm39) |
F254L |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,467,868 (GRCm39) |
S4272P |
probably benign |
Het |
Tgm5 |
T |
C |
2: 120,901,216 (GRCm39) |
T292A |
probably damaging |
Het |
Tmem229a |
T |
A |
6: 24,954,831 (GRCm39) |
I308F |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,554,464 (GRCm39) |
I30784V |
possibly damaging |
Het |
Urod |
T |
A |
4: 116,849,880 (GRCm39) |
T173S |
probably benign |
Het |
Vmn1r223 |
A |
T |
13: 23,433,585 (GRCm39) |
M60L |
probably benign |
Het |
Vmn2r2 |
T |
A |
3: 64,041,912 (GRCm39) |
I268L |
probably benign |
Het |
Vwa8 |
C |
T |
14: 79,320,292 (GRCm39) |
T1101M |
probably benign |
Het |
Zc3h12c |
T |
A |
9: 52,055,728 (GRCm39) |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTAAACAAAGCTGCCTGTGTG -3'
(R):5'- AGGTGGTCTCTAGCCTCTAC -3'
Sequencing Primer
(F):5'- GCCTGTGTGTGAAATTTTATGACCAC -3'
(R):5'- TCTACCAGGATGTCCAGCTG -3'
|
Posted On |
2015-06-12 |