Incidental Mutation 'IGL02057:Smpdl3b'
| ID |
185272 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smpdl3b
|
| Ensembl Gene |
ENSMUSG00000028885 |
| Gene Name |
sphingomyelin phosphodiesterase, acid-like 3B |
| Synonyms |
1110054A24Rik, Asml3b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL02057
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
132460277-132484558 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 132461024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 351
(E351V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030709]
[ENSMUST00000045550]
|
| AlphaFold |
P58242 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030709
AA Change: E351V
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030709
Gene: ENSMUSG00000028885
AA Change: E351V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Metallophos
|
21 |
281 |
1.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045550
|
| SMART Domains |
Protein: ENSMUSP00000041205
Gene: ENSMUSG00000037752
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XK-related
|
14 |
345 |
2.3e-87 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150104
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal but exhibit an enhanced inflammatory response in models of Toll-like receptor (TLR)-dependent peritonitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,328,072 (GRCm39) |
N369S |
probably damaging |
Het |
| Atp13a3 |
C |
T |
16: 30,151,182 (GRCm39) |
A1043T |
probably benign |
Het |
| AY358078 |
G |
A |
14: 52,057,762 (GRCm39) |
V287I |
unknown |
Het |
| Cemip |
T |
C |
7: 83,636,661 (GRCm39) |
E324G |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,431,052 (GRCm39) |
D1487E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,517,273 (GRCm39) |
Q879* |
probably null |
Het |
| Eci2 |
A |
G |
13: 35,174,759 (GRCm39) |
L50P |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,236,964 (GRCm39) |
H65Q |
probably benign |
Het |
| Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
| Galm |
T |
C |
17: 80,488,996 (GRCm39) |
I214T |
probably benign |
Het |
| Gipc3 |
T |
A |
10: 81,178,968 (GRCm39) |
N42Y |
probably damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,554,741 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
A |
T |
11: 104,523,174 (GRCm39) |
I113F |
probably damaging |
Het |
| Lef1 |
T |
G |
3: 130,994,051 (GRCm39) |
Y342* |
probably null |
Het |
| Lilrb4a |
G |
A |
10: 51,368,103 (GRCm39) |
D168N |
possibly damaging |
Het |
| Or51b6b |
T |
A |
7: 103,309,860 (GRCm39) |
Y199F |
probably damaging |
Het |
| Or5m10 |
T |
A |
2: 85,717,275 (GRCm39) |
F44I |
probably benign |
Het |
| Orc1 |
T |
G |
4: 108,445,926 (GRCm39) |
S15A |
possibly damaging |
Het |
| Pdk2 |
C |
T |
11: 94,919,324 (GRCm39) |
G317D |
probably benign |
Het |
| Rab37 |
T |
C |
11: 115,051,543 (GRCm39) |
S217P |
probably benign |
Het |
| Rere |
C |
T |
4: 150,699,289 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,594,536 (GRCm39) |
G1286S |
probably damaging |
Het |
| Sirt1 |
A |
G |
10: 63,160,982 (GRCm39) |
S357P |
probably damaging |
Het |
| Sox6 |
C |
A |
7: 115,149,310 (GRCm39) |
G355W |
probably damaging |
Het |
| Spopfm2 |
T |
A |
3: 94,083,662 (GRCm39) |
S50C |
probably damaging |
Het |
| Srpk2 |
G |
T |
5: 23,723,705 (GRCm39) |
A502E |
probably damaging |
Het |
| Trim67 |
G |
A |
8: 125,549,869 (GRCm39) |
V500I |
probably benign |
Het |
| Ube2v2 |
A |
G |
16: 15,394,922 (GRCm39) |
V83A |
probably benign |
Het |
| Usp43 |
A |
T |
11: 67,747,113 (GRCm39) |
S865T |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,371 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
T |
A |
7: 85,060,990 (GRCm39) |
H198L |
possibly damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,032 (GRCm39) |
C635R |
probably damaging |
Het |
|
| Other mutations in Smpdl3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03166:Smpdl3b
|
APN |
4 |
132,468,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0321:Smpdl3b
|
UTSW |
4 |
132,468,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0450:Smpdl3b
|
UTSW |
4 |
132,472,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Smpdl3b
|
UTSW |
4 |
132,472,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Smpdl3b
|
UTSW |
4 |
132,473,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Smpdl3b
|
UTSW |
4 |
132,473,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Smpdl3b
|
UTSW |
4 |
132,472,489 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4844:Smpdl3b
|
UTSW |
4 |
132,465,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6290:Smpdl3b
|
UTSW |
4 |
132,465,586 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6992:Smpdl3b
|
UTSW |
4 |
132,472,452 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8273:Smpdl3b
|
UTSW |
4 |
132,465,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Smpdl3b
|
UTSW |
4 |
132,473,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8711:Smpdl3b
|
UTSW |
4 |
132,472,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Smpdl3b
|
UTSW |
4 |
132,461,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8949:Smpdl3b
|
UTSW |
4 |
132,473,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9592:Smpdl3b
|
UTSW |
4 |
132,484,438 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Smpdl3b
|
UTSW |
4 |
132,473,922 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Posted On |
2014-05-07 |
Incidental Mutation