Incidental Mutation 'IGL03101:Etnppl'
| ID |
418723 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Etnppl
|
| Ensembl Gene |
ENSMUSG00000019232 |
| Gene Name |
ethanolamine phosphate phospholyase |
| Synonyms |
Agxt2l1, 1300019H02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL03101
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
130411097-130429399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130415967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 118
(L118S)
|
| 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: L118S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072121
Gene: ENSMUSG00000019232
AA Change: L118S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
32 |
373 |
2.6e-81 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163620
AA Change: L112S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129120
Gene: ENSMUSG00000019232
AA Change: L112S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
32 |
367 |
1.6e-73 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166187
AA Change: L118S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131294
Gene: ENSMUSG00000019232
AA Change: L118S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199940
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA474408 |
A |
T |
7: 109,660,177 (GRCm39) |
|
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,207,732 (GRCm39) |
V23D |
probably damaging |
Het |
| Adam8 |
G |
T |
7: 139,568,456 (GRCm39) |
N260K |
possibly damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,591,906 (GRCm39) |
I457L |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,867,421 (GRCm39) |
N808S |
possibly damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,327,082 (GRCm39) |
T532A |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,967,592 (GRCm39) |
T162N |
possibly damaging |
Het |
| Clec12b |
A |
G |
6: 129,356,480 (GRCm39) |
|
probably null |
Het |
| Creb3 |
T |
C |
4: 43,563,081 (GRCm39) |
V60A |
probably benign |
Het |
| Cyp11b1 |
A |
G |
15: 74,707,703 (GRCm39) |
F469L |
probably benign |
Het |
| Defb28 |
A |
T |
2: 152,362,047 (GRCm39) |
E69V |
possibly damaging |
Het |
| Fsip1 |
T |
C |
2: 118,072,144 (GRCm39) |
Y213C |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,676,421 (GRCm39) |
W480R |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,395,279 (GRCm39) |
M4205L |
probably benign |
Het |
| Kif5a |
A |
T |
10: 127,071,478 (GRCm39) |
|
probably benign |
Het |
| Lmbrd2 |
C |
T |
15: 9,186,695 (GRCm39) |
R557C |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,963,284 (GRCm39) |
|
probably null |
Het |
| Npc1 |
A |
G |
18: 12,331,596 (GRCm39) |
I858T |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,725 (GRCm39) |
T170A |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,588,177 (GRCm39) |
V92A |
probably damaging |
Het |
| Rbm43 |
A |
T |
2: 51,816,757 (GRCm39) |
I70N |
probably benign |
Het |
| Rps6kb1 |
T |
C |
11: 86,393,708 (GRCm39) |
Y474C |
probably benign |
Het |
| Slco2a1 |
G |
A |
9: 102,954,205 (GRCm39) |
G459R |
possibly damaging |
Het |
| Snca |
T |
A |
6: 60,804,595 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
C |
4: 42,793,424 (GRCm39) |
D236G |
possibly damaging |
Het |
| Stap2 |
T |
A |
17: 56,309,029 (GRCm39) |
I113F |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,764 (GRCm39) |
M198T |
probably benign |
Het |
| Trim9 |
T |
C |
12: 70,393,428 (GRCm39) |
E172G |
probably damaging |
Het |
| Ttll7 |
T |
C |
3: 146,602,445 (GRCm39) |
V81A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,782 (GRCm39) |
Y53C |
probably damaging |
Het |
| Vmn2r22 |
C |
A |
6: 123,614,295 (GRCm39) |
A432S |
probably benign |
Het |
| Zfp943 |
T |
C |
17: 22,211,156 (GRCm39) |
S81P |
probably damaging |
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 |
|
|
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 |
|
R2330:Etnppl
|
UTSW |
3 |
130,424,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation