Incidental Mutation 'R9730:Etnppl'
| ID |
736000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etnppl
|
| Ensembl Gene |
ENSMUSG00000019232 |
| Gene Name |
ethanolamine phosphate phospholyase |
| Synonyms |
Agxt2l1, 1300019H02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R9730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
130411097-130429399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130415958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 115
(A115V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072271]
[ENSMUST00000163620]
[ENSMUST00000166187]
|
| AlphaFold |
Q8BWU8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072271
AA Change: A115V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072121
Gene: ENSMUSG00000019232
AA Change: A115V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
32 |
373 |
2.6e-81 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163620
AA Change: A109V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129120
Gene: ENSMUSG00000019232
AA Change: A109V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
32 |
367 |
1.6e-73 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166187
AA Change: A115V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131294
Gene: ENSMUSG00000019232
AA Change: A115V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,829,534 (GRCm39) |
R807Q |
probably benign |
Het |
| Alms1 |
G |
A |
6: 85,606,420 (GRCm39) |
R2221Q |
probably benign |
Het |
| Alox12 |
C |
T |
11: 70,140,920 (GRCm39) |
A372T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,019,493 (GRCm39) |
M2V |
|
Het |
| Cdon |
A |
G |
9: 35,398,263 (GRCm39) |
I993M |
probably benign |
Het |
| Chil5 |
T |
C |
3: 105,926,470 (GRCm39) |
T120A |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,632,979 (GRCm39) |
H157R |
probably damaging |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cyp39a1 |
A |
G |
17: 43,991,029 (GRCm39) |
N113D |
probably benign |
Het |
| Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
| Dennd3 |
A |
G |
15: 73,426,959 (GRCm39) |
K779E |
probably damaging |
Het |
| Exoc6 |
C |
T |
19: 37,588,032 (GRCm39) |
T555I |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,688,395 (GRCm39) |
T419A |
probably damaging |
Het |
| Hcn4 |
G |
T |
9: 58,731,493 (GRCm39) |
M233I |
unknown |
Het |
| Hgfac |
T |
C |
5: 35,204,282 (GRCm39) |
V515A |
probably damaging |
Het |
| Hikeshi |
T |
C |
7: 89,569,371 (GRCm39) |
Y150C |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,839,423 (GRCm39) |
Y645C |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,401,124 (GRCm39) |
I521T |
possibly damaging |
Het |
| Ldhal6b |
A |
G |
17: 5,468,094 (GRCm39) |
V280A |
possibly damaging |
Het |
| Map1s |
C |
T |
8: 71,369,178 (GRCm39) |
A909V |
possibly damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,747 (GRCm39) |
Y92F |
possibly damaging |
Het |
| Plaa |
G |
A |
4: 94,466,660 (GRCm39) |
P484S |
probably benign |
Het |
| Ppp1r3a |
G |
T |
6: 14,721,923 (GRCm39) |
A301D |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,858,659 (GRCm39) |
S1544P |
possibly damaging |
Het |
| Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
| Slc12a9 |
T |
A |
5: 137,325,732 (GRCm39) |
D293V |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,783,004 (GRCm39) |
N1101S |
unknown |
Het |
| Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,757,552 (GRCm39) |
D865E |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,213,247 (GRCm39) |
D17G |
probably benign |
Het |
| Try4 |
A |
T |
6: 41,281,996 (GRCm39) |
D194V |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,492,139 (GRCm39) |
E212G |
probably damaging |
Het |
| Zfp445 |
A |
C |
9: 122,681,490 (GRCm39) |
I817R |
probably damaging |
Het |
| Zfp534 |
A |
T |
4: 147,759,378 (GRCm39) |
H430Q |
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 |
|
|
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 |
|
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 |
|
R9748:Etnppl
|
UTSW |
3 |
130,414,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACAGGGAGAACTTCAGTGGG -3'
(R):5'- TAGAAAGAGTGCACTCAAGCTC -3'
Sequencing Primer
(F):5'- ACTTCAGTGGGGCAGGATG -3'
(R):5'- GAGTGATTTTGAAACACCCTCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation