Incidental Mutation 'IGL03120:Etnppl'
| ID |
409933 |
| 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 # |
IGL03120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
130411097-130429399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130414341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 73
(T73A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072271]
[ENSMUST00000163620]
[ENSMUST00000166187]
|
| AlphaFold |
Q8BWU8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072271
AA Change: T79A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072121
Gene: ENSMUSG00000019232
AA Change: T79A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
32 |
373 |
2.6e-81 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163620
AA Change: T73A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129120
Gene: ENSMUSG00000019232
AA Change: T73A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_3
|
32 |
367 |
1.6e-73 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166187
AA Change: T79A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131294
Gene: ENSMUSG00000019232
AA Change: T79A
| 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 |
|
| 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 |
|---|
| 1110059G10Rik |
A |
G |
9: 122,778,118 (GRCm39) |
L42P |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,319,627 (GRCm39) |
I1420V |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,518,032 (GRCm39) |
Y263C |
probably damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,909,738 (GRCm39) |
I112F |
probably damaging |
Het |
| Dach1 |
T |
C |
14: 98,065,225 (GRCm39) |
E724G |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,101,008 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,312,674 (GRCm39) |
E4297V |
probably damaging |
Het |
| Dot1l |
A |
G |
10: 80,622,107 (GRCm39) |
|
probably benign |
Het |
| Endod1 |
C |
A |
9: 14,268,331 (GRCm39) |
V385F |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,373,206 (GRCm39) |
D104V |
possibly damaging |
Het |
| Gp5 |
T |
C |
16: 30,127,016 (GRCm39) |
I553V |
possibly damaging |
Het |
| Gpc5 |
A |
G |
14: 115,607,556 (GRCm39) |
E386G |
possibly damaging |
Het |
| Hbb-bs |
A |
G |
7: 103,476,985 (GRCm39) |
|
probably benign |
Het |
| Klra2 |
T |
A |
6: 131,197,180 (GRCm39) |
Y273F |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,507,801 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
T |
3: 88,818,116 (GRCm39) |
V366E |
probably damaging |
Het |
| Mtcl1 |
A |
G |
17: 66,686,378 (GRCm39) |
S843P |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,114,939 (GRCm39) |
N97S |
probably benign |
Het |
| Npm2 |
C |
A |
14: 70,890,039 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
C |
T |
4: 43,643,133 (GRCm39) |
R506C |
probably damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,898 (GRCm39) |
E36G |
probably damaging |
Het |
| Or56b2 |
A |
T |
7: 104,337,609 (GRCm39) |
Y129F |
probably benign |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,209 (GRCm39) |
I335V |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,171,060 (GRCm39) |
D772G |
probably damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,899,667 (GRCm39) |
D119E |
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,765,193 (GRCm39) |
N529S |
probably benign |
Het |
| Rnf20 |
T |
A |
4: 49,649,955 (GRCm39) |
|
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,869 (GRCm39) |
V77A |
possibly damaging |
Het |
| Tmem132c |
T |
A |
5: 127,640,448 (GRCm39) |
V873E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,757,428 (GRCm39) |
|
probably null |
Het |
| Vmn2r54 |
A |
G |
7: 12,349,314 (GRCm39) |
I756T |
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 |
|
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