Incidental Mutation 'IGL02372:Smpdl3a'
| ID |
290969 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smpdl3a
|
| Ensembl Gene |
ENSMUSG00000019872 |
| Gene Name |
sphingomyelin phosphodiesterase, acid-like 3A |
| Synonyms |
ASM3A, 0610010C24Rik, ASML3A |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
57670640-57687926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57683611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 240
(N240K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020022]
|
| AlphaFold |
P70158 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020022
AA Change: N240K
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000020022
Gene: ENSMUSG00000019872
AA Change: N240K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Metallophos
|
35 |
294 |
1.7e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125076
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
A |
G |
11: 120,485,701 (GRCm39) |
|
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,332,461 (GRCm39) |
|
probably null |
Het |
| Arc |
A |
G |
15: 74,543,954 (GRCm39) |
S90P |
probably damaging |
Het |
| Atp6v1e1 |
T |
A |
6: 120,778,084 (GRCm39) |
K150N |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,844,674 (GRCm39) |
|
probably benign |
Het |
| Ccnb1 |
A |
G |
13: 100,917,824 (GRCm39) |
Y259H |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,814,108 (GRCm39) |
V1938A |
probably benign |
Het |
| Ckmt2 |
A |
G |
13: 92,013,343 (GRCm39) |
V37A |
probably benign |
Het |
| Dpys |
G |
T |
15: 39,656,667 (GRCm39) |
P467T |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,760,862 (GRCm39) |
T1535A |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,179,986 (GRCm39) |
L302P |
probably benign |
Het |
| Faf1 |
T |
G |
4: 109,792,779 (GRCm39) |
F584V |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,707,772 (GRCm39) |
R72C |
probably damaging |
Het |
| Gm9892 |
T |
C |
8: 52,649,871 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
G |
T |
13: 14,438,706 (GRCm39) |
D892E |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,795,790 (GRCm39) |
E474G |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,559,401 (GRCm39) |
F297V |
probably damaging |
Het |
| Myc |
A |
G |
15: 61,859,707 (GRCm39) |
N127D |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,986,613 (GRCm39) |
N671K |
probably benign |
Het |
| Nup210l |
C |
A |
3: 90,109,278 (GRCm39) |
T1607N |
possibly damaging |
Het |
| Or8s8 |
A |
T |
15: 98,354,709 (GRCm39) |
T173S |
probably damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,974,370 (GRCm39) |
K22* |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,513,650 (GRCm39) |
L942P |
probably damaging |
Het |
| Plekhg5 |
C |
T |
4: 152,186,537 (GRCm39) |
R40W |
probably damaging |
Het |
| Pomt2 |
C |
T |
12: 87,169,609 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,847,298 (GRCm39) |
|
probably benign |
Het |
| Sbk1 |
T |
C |
7: 125,890,230 (GRCm39) |
L81P |
probably damaging |
Het |
| Scrib |
G |
A |
15: 75,920,104 (GRCm39) |
P1524S |
probably damaging |
Het |
| Smyd4 |
A |
T |
11: 75,281,111 (GRCm39) |
K195* |
probably null |
Het |
| Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
| Tulp3 |
A |
T |
6: 128,304,561 (GRCm39) |
M231K |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 67,668,739 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Smpdl3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00561:Smpdl3a
|
APN |
10 |
57,684,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01530:Smpdl3a
|
APN |
10 |
57,683,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01936:Smpdl3a
|
APN |
10 |
57,678,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02342:Smpdl3a
|
APN |
10 |
57,685,276 (GRCm39) |
splice site |
probably benign |
|
|
IGL02827:Smpdl3a
|
APN |
10 |
57,678,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Smpdl3a
|
UTSW |
10 |
57,670,827 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0658:Smpdl3a
|
UTSW |
10 |
57,687,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1216:Smpdl3a
|
UTSW |
10 |
57,678,575 (GRCm39) |
missense |
probably null |
0.98 |
|
R1502:Smpdl3a
|
UTSW |
10 |
57,685,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Smpdl3a
|
UTSW |
10 |
57,683,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1807:Smpdl3a
|
UTSW |
10 |
57,677,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2872:Smpdl3a
|
UTSW |
10 |
57,678,626 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2872:Smpdl3a
|
UTSW |
10 |
57,678,626 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2877:Smpdl3a
|
UTSW |
10 |
57,685,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Smpdl3a
|
UTSW |
10 |
57,684,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Smpdl3a
|
UTSW |
10 |
57,687,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Smpdl3a
|
UTSW |
10 |
57,677,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Smpdl3a
|
UTSW |
10 |
57,677,163 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5778:Smpdl3a
|
UTSW |
10 |
57,677,097 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5781:Smpdl3a
|
UTSW |
10 |
57,684,034 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5917:Smpdl3a
|
UTSW |
10 |
57,681,654 (GRCm39) |
splice site |
probably null |
|
|
R6044:Smpdl3a
|
UTSW |
10 |
57,687,358 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6773:Smpdl3a
|
UTSW |
10 |
57,678,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6863:Smpdl3a
|
UTSW |
10 |
57,684,107 (GRCm39) |
nonsense |
probably null |
|
|
R7480:Smpdl3a
|
UTSW |
10 |
57,678,574 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7731:Smpdl3a
|
UTSW |
10 |
57,678,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7923:Smpdl3a
|
UTSW |
10 |
57,677,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8120:Smpdl3a
|
UTSW |
10 |
57,683,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Smpdl3a
|
UTSW |
10 |
57,677,073 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8377:Smpdl3a
|
UTSW |
10 |
57,677,032 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8712:Smpdl3a
|
UTSW |
10 |
57,687,526 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8876:Smpdl3a
|
UTSW |
10 |
57,685,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Smpdl3a
|
UTSW |
10 |
57,683,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9145:Smpdl3a
|
UTSW |
10 |
57,677,028 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9266:Smpdl3a
|
UTSW |
10 |
57,678,596 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
Z1176:Smpdl3a
|
UTSW |
10 |
57,681,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation