Incidental Mutation 'R2330:Etnppl'
ID |
245830 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Etnppl
|
Ensembl Gene |
ENSMUSG00000019232 |
Gene Name |
ethanolamine phosphate phospholyase |
Synonyms |
Agxt2l1, 1300019H02Rik |
MMRRC Submission |
040321-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R2330 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
130411097-130429399 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 130424224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 332
(L332P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131294
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072271]
[ENSMUST00000163620]
[ENSMUST00000166187]
|
AlphaFold |
Q8BWU8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072271
AA Change: L332P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072121 Gene: ENSMUSG00000019232 AA Change: L332P
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_3
|
32 |
373 |
2.6e-81 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163620
AA Change: L326P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129120 Gene: ENSMUSG00000019232 AA Change: L326P
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_3
|
32 |
367 |
1.6e-73 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166187
AA Change: L332P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131294 Gene: ENSMUSG00000019232 AA Change: L332P
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_3
|
26 |
433 |
1.3e-91 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170664
|
SMART Domains |
Protein: ENSMUSP00000128425 Gene: ENSMUSG00000019232
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_3
|
2 |
120 |
4.4e-29 |
PFAM |
|
Meta Mutation Damage Score |
0.9703 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.1%
|
Validation Efficiency |
100% (31/31) |
Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp9a |
A |
G |
2: 168,481,849 (GRCm39) |
S958P |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Clasp2 |
T |
C |
9: 113,705,372 (GRCm39) |
V594A |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,540,939 (GRCm39) |
I2396T |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,528,300 (GRCm39) |
|
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dnaja3 |
T |
A |
16: 4,507,880 (GRCm39) |
D127E |
probably benign |
Het |
Gm4559 |
A |
T |
7: 141,827,833 (GRCm39) |
C90S |
unknown |
Het |
Gramd1c |
T |
C |
16: 43,803,566 (GRCm39) |
N616D |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,528,429 (GRCm39) |
|
probably benign |
Het |
Hydin |
C |
A |
8: 111,291,641 (GRCm39) |
Q3378K |
probably benign |
Het |
Lin7b |
A |
G |
7: 45,019,337 (GRCm39) |
|
probably null |
Het |
Mex3c |
G |
A |
18: 73,706,799 (GRCm39) |
V229I |
probably damaging |
Het |
Micall2 |
C |
G |
5: 139,703,270 (GRCm39) |
G189R |
probably damaging |
Het |
Ncam2 |
A |
G |
16: 81,309,809 (GRCm39) |
H433R |
probably benign |
Het |
Or2t45 |
A |
T |
11: 58,669,825 (GRCm39) |
S291C |
probably damaging |
Het |
Or4c12 |
T |
C |
2: 89,774,297 (GRCm39) |
N54S |
probably benign |
Het |
Or6c5 |
C |
T |
10: 129,074,908 (GRCm39) |
Q297* |
probably null |
Het |
Pml |
A |
T |
9: 58,141,854 (GRCm39) |
V326E |
probably damaging |
Het |
Prl2c5 |
T |
A |
13: 13,366,378 (GRCm39) |
M219K |
possibly damaging |
Het |
Rfc1 |
A |
T |
5: 65,470,312 (GRCm39) |
I65N |
possibly damaging |
Het |
Rsbn1 |
T |
C |
3: 103,821,816 (GRCm39) |
L17P |
probably damaging |
Het |
Serpina3m |
A |
G |
12: 104,357,963 (GRCm39) |
K296E |
possibly damaging |
Het |
Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
Spag6l |
T |
C |
16: 16,646,949 (GRCm39) |
Q19R |
probably benign |
Het |
Tgm6 |
A |
C |
2: 129,985,162 (GRCm39) |
D344A |
probably damaging |
Het |
Zfp7 |
T |
C |
15: 76,775,509 (GRCm39) |
I517T |
probably damaging |
Het |
Zfp831 |
T |
A |
2: 174,489,882 (GRCm39) |
Y1216* |
probably null |
Het |
|
Other mutations in Etnppl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01784:Etnppl
|
APN |
3 |
130,425,427 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02087:Etnppl
|
APN |
3 |
130,420,194 (GRCm39) |
missense |
probably benign |
|
IGL02524:Etnppl
|
APN |
3 |
130,424,320 (GRCm39) |
unclassified |
probably benign |
|
IGL03101:Etnppl
|
APN |
3 |
130,415,967 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03120:Etnppl
|
APN |
3 |
130,414,341 (GRCm39) |
missense |
probably damaging |
1.00 |
1mM(1):Etnppl
|
UTSW |
3 |
130,422,479 (GRCm39) |
splice site |
probably benign |
|
PIT4810001:Etnppl
|
UTSW |
3 |
130,414,363 (GRCm39) |
missense |
probably benign |
0.35 |
R0279:Etnppl
|
UTSW |
3 |
130,423,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R1075:Etnppl
|
UTSW |
3 |
130,423,212 (GRCm39) |
missense |
probably benign |
0.01 |
R1117:Etnppl
|
UTSW |
3 |
130,428,212 (GRCm39) |
missense |
probably benign |
0.00 |
R1502:Etnppl
|
UTSW |
3 |
130,422,438 (GRCm39) |
missense |
probably benign |
0.01 |
R1581:Etnppl
|
UTSW |
3 |
130,422,393 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1730:Etnppl
|
UTSW |
3 |
130,414,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R1783:Etnppl
|
UTSW |
3 |
130,414,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R1816:Etnppl
|
UTSW |
3 |
130,428,211 (GRCm39) |
missense |
probably benign |
|
R1855:Etnppl
|
UTSW |
3 |
130,414,371 (GRCm39) |
missense |
probably benign |
0.40 |
R1885:Etnppl
|
UTSW |
3 |
130,423,111 (GRCm39) |
missense |
probably benign |
0.04 |
R4067:Etnppl
|
UTSW |
3 |
130,425,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R5862:Etnppl
|
UTSW |
3 |
130,425,473 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6183:Etnppl
|
UTSW |
3 |
130,413,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R6374:Etnppl
|
UTSW |
3 |
130,414,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R7169:Etnppl
|
UTSW |
3 |
130,414,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R7324:Etnppl
|
UTSW |
3 |
130,423,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R7654:Etnppl
|
UTSW |
3 |
130,423,160 (GRCm39) |
missense |
probably benign |
0.00 |
R7990:Etnppl
|
UTSW |
3 |
130,424,308 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8348:Etnppl
|
UTSW |
3 |
130,423,141 (GRCm39) |
missense |
probably benign |
0.22 |
R8506:Etnppl
|
UTSW |
3 |
130,423,122 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8771:Etnppl
|
UTSW |
3 |
130,414,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R8823:Etnppl
|
UTSW |
3 |
130,420,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R9730:Etnppl
|
UTSW |
3 |
130,415,958 (GRCm39) |
missense |
probably damaging |
0.99 |
R9748:Etnppl
|
UTSW |
3 |
130,414,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGACTGCTGAAGGCTTAAAGTATG -3'
(R):5'- GGTTCCTGAGTCTGGGTTAACC -3'
Sequencing Primer
(F):5'- GCTGAAGGCTTAAAGTATGTTTTTG -3'
(R):5'- GGTTAACCCTGATCTTTGCTCTC -3'
|
Posted On |
2014-10-30 |