Incidental Mutation 'R6183:Etnppl'
ID |
487611 |
Institutional Source |
Beutler Lab
|
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 # |
R6183 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
130411097-130429399 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 130413966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 22
(C22R)
|
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: C22R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072121 Gene: ENSMUSG00000019232 AA Change: C22R
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_3
|
32 |
373 |
2.6e-81 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163620
AA Change: C22R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129120 Gene: ENSMUSG00000019232 AA Change: C22R
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_3
|
32 |
367 |
1.6e-73 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166187
AA Change: C22R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131294 Gene: ENSMUSG00000019232 AA Change: C22R
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_3
|
26 |
433 |
1.3e-91 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199940
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
A |
5: 8,968,718 (GRCm39) |
D352E |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,133,451 (GRCm39) |
I972L |
probably damaging |
Het |
Alg3 |
T |
C |
16: 20,429,391 (GRCm39) |
Y33C |
probably benign |
Het |
Atp1a3 |
C |
T |
7: 24,681,177 (GRCm39) |
G816D |
probably damaging |
Het |
Ccdc121 |
T |
C |
5: 31,645,320 (GRCm39) |
Y358H |
probably damaging |
Het |
Ces1g |
C |
T |
8: 94,057,867 (GRCm39) |
V145M |
possibly damaging |
Het |
Clip1 |
A |
G |
5: 123,780,667 (GRCm39) |
S339P |
probably damaging |
Het |
Col2a1 |
G |
T |
15: 97,886,671 (GRCm39) |
T378N |
unknown |
Het |
Dennd4b |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
3: 90,182,875 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,583,726 (GRCm39) |
L3207Q |
probably damaging |
Het |
Efcab5 |
T |
C |
11: 77,028,084 (GRCm39) |
T416A |
probably benign |
Het |
Ephb1 |
A |
T |
9: 102,072,524 (GRCm39) |
I85N |
probably damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,432,949 (GRCm39) |
T11A |
probably benign |
Het |
Gm5458 |
C |
A |
14: 19,649,712 (GRCm39) |
V171L |
probably damaging |
Het |
Helb |
G |
T |
10: 119,948,903 (GRCm39) |
|
probably null |
Het |
Hnrnpll |
A |
G |
17: 80,357,305 (GRCm39) |
V237A |
possibly damaging |
Het |
Hps3 |
T |
C |
3: 20,063,032 (GRCm39) |
T712A |
probably benign |
Het |
Ibsp |
A |
G |
5: 104,453,896 (GRCm39) |
E78G |
possibly damaging |
Het |
Ighv1-62-2 |
G |
A |
12: 115,410,056 (GRCm39) |
A111V |
probably damaging |
Het |
Igkv4-63 |
G |
T |
6: 69,355,108 (GRCm39) |
Q58K |
probably damaging |
Het |
Iqcg |
T |
C |
16: 32,851,293 (GRCm39) |
Y226C |
probably damaging |
Het |
Khdc1a |
A |
T |
1: 21,420,332 (GRCm39) |
D30V |
possibly damaging |
Het |
Krtap5-5 |
C |
A |
7: 141,783,524 (GRCm39) |
C42F |
unknown |
Het |
Lmod3 |
T |
C |
6: 97,229,514 (GRCm39) |
N7D |
probably damaging |
Het |
Lvrn |
A |
G |
18: 46,983,752 (GRCm39) |
N165S |
probably benign |
Het |
Ms4a4c |
A |
G |
19: 11,403,593 (GRCm39) |
T192A |
possibly damaging |
Het |
Ncald |
A |
T |
15: 37,397,476 (GRCm39) |
V68D |
probably damaging |
Het |
Or4e5 |
T |
A |
14: 52,728,188 (GRCm39) |
T78S |
probably benign |
Het |
Pcdhgb7 |
A |
T |
18: 37,885,315 (GRCm39) |
I162F |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,834 (GRCm39) |
T4A |
possibly damaging |
Het |
Qrich2 |
T |
A |
11: 116,348,955 (GRCm39) |
|
probably benign |
Het |
Rgl1 |
C |
T |
1: 152,462,321 (GRCm39) |
E60K |
possibly damaging |
Het |
Rtn1 |
A |
T |
12: 72,455,265 (GRCm39) |
W21R |
probably benign |
Het |
Scart2 |
A |
G |
7: 139,875,947 (GRCm39) |
T404A |
possibly damaging |
Het |
Spast |
A |
G |
17: 74,680,353 (GRCm39) |
I438M |
probably damaging |
Het |
Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Tas1r1 |
A |
G |
4: 152,116,998 (GRCm39) |
I212T |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,432,768 (GRCm39) |
N439D |
probably damaging |
Het |
Tjp2 |
C |
T |
19: 24,078,155 (GRCm39) |
A913T |
probably damaging |
Het |
Tnfrsf26 |
A |
G |
7: 143,165,494 (GRCm39) |
L47P |
probably damaging |
Het |
Unc13a |
A |
T |
8: 72,097,310 (GRCm39) |
S1195T |
probably damaging |
Het |
Usp54 |
T |
C |
14: 20,602,313 (GRCm39) |
R1346G |
probably damaging |
Het |
Vmn1r54 |
T |
A |
6: 90,246,272 (GRCm39) |
M62K |
possibly damaging |
Het |
Vmn2r125 |
A |
T |
4: 156,702,364 (GRCm39) |
D50V |
probably damaging |
Het |
Vmn2r66 |
T |
C |
7: 84,644,766 (GRCm39) |
D548G |
possibly damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,664,192 (GRCm39) |
N470K |
probably damaging |
Het |
Zc3h7a |
A |
T |
16: 10,965,234 (GRCm39) |
I633N |
possibly 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 |
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'- TGACCAATGACATCCACAGTG -3'
(R):5'- CTTTTAGCGCAACTCAGCAG -3'
Sequencing Primer
(F):5'- CACAGTGGATTAGGATGAAAGATTCC -3'
(R):5'- CTCAGCAGAGGAAAGGGACATTC -3'
|
Posted On |
2017-10-10 |