Incidental Mutation 'R4236:Nxpe4'
| ID |
321129 |
| 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 |
041053-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
R4236 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
48073321-48311325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48310137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 467
(T467S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093853]
[ENSMUST00000215780]
[ENSMUST00000216998]
|
| AlphaFold |
Q52KP5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093853
AA Change: T467S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091375
Gene: ENSMUSG00000044229
AA Change: T467S
| 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: T467S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217002
|
| Meta Mutation Damage Score |
0.6220 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,206,205 (GRCm39) |
K168N |
probably damaging |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Cela1 |
T |
C |
15: 100,580,794 (GRCm39) |
Y91C |
probably damaging |
Het |
| Chrnb3 |
C |
A |
8: 27,884,021 (GRCm39) |
L253M |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,230,037 (GRCm39) |
G1493* |
probably null |
Het |
| Dnah7a |
C |
T |
1: 53,486,524 (GRCm39) |
E3346K |
probably benign |
Het |
| Dock5 |
A |
T |
14: 67,993,941 (GRCm39) |
S1845T |
probably benign |
Het |
| Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
| Eif1ad8 |
A |
T |
12: 87,563,935 (GRCm39) |
D90V |
probably damaging |
Het |
| F2rl1 |
A |
G |
13: 95,649,796 (GRCm39) |
L362P |
probably damaging |
Het |
| Gal3st2c |
T |
C |
1: 93,936,463 (GRCm39) |
F136S |
probably damaging |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Klhl23 |
T |
C |
2: 69,654,516 (GRCm39) |
F129L |
probably damaging |
Het |
| Krt71 |
T |
C |
15: 101,643,129 (GRCm39) |
T460A |
probably benign |
Het |
| Madd |
C |
T |
2: 90,997,373 (GRCm39) |
R746Q |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Myh6 |
T |
G |
14: 55,197,819 (GRCm39) |
M440L |
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,228,575 (GRCm39) |
S205C |
probably benign |
Het |
| Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
| Or1e17 |
A |
G |
11: 73,831,182 (GRCm39) |
T37A |
possibly damaging |
Het |
| Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
| Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,120,923 (GRCm39) |
T683A |
possibly damaging |
Het |
| Plcb2 |
A |
T |
2: 118,540,047 (GRCm39) |
L1082Q |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,718,257 (GRCm39) |
V357A |
probably damaging |
Het |
| Slitrk6 |
T |
C |
14: 110,987,580 (GRCm39) |
E709G |
probably benign |
Het |
| Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
| Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
| Tfcp2l1 |
G |
A |
1: 118,589,795 (GRCm39) |
R285H |
probably benign |
Het |
| Tmem132d |
A |
G |
5: 128,509,389 (GRCm39) |
S14P |
possibly damaging |
Het |
| Tulp2 |
A |
G |
7: 45,171,298 (GRCm39) |
K360E |
probably damaging |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,803 (GRCm39) |
V99A |
probably benign |
Het |
| Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
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 |
|
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'- GAAAATCAGCATCCAGTGGC -3'
(R):5'- TCTAACTACATCCTCTGGTGGG -3'
Sequencing Primer
(F):5'- TCCAGTGGCAAAAACATGGTTAC -3'
(R):5'- GTGGACATTGTTTATGCCATATGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation