Incidental Mutation 'IGL02827:Smpdl3a'
| ID |
361258 |
| 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 # |
IGL02827
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
57670640-57687926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57678592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 132
(T132A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020022]
[ENSMUST00000151623]
|
| AlphaFold |
P70158 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020022
AA Change: T132A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020022
Gene: ENSMUSG00000019872
AA Change: T132A
| 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
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151623
AA Change: T102A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| 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 |
|---|
| Abca7 |
T |
C |
10: 79,845,699 (GRCm39) |
S1554P |
probably damaging |
Het |
| Actn2 |
A |
T |
13: 12,290,085 (GRCm39) |
L152Q |
probably damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,559,015 (GRCm39) |
I369V |
probably damaging |
Het |
| Aqp6 |
G |
A |
15: 99,500,892 (GRCm39) |
G199S |
probably damaging |
Het |
| Asgr2 |
A |
G |
11: 69,987,723 (GRCm39) |
I74V |
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,236,760 (GRCm39) |
R702G |
probably damaging |
Het |
| Cers1 |
C |
T |
8: 70,774,177 (GRCm39) |
P145S |
probably damaging |
Het |
| Ddx21 |
T |
C |
10: 62,434,153 (GRCm39) |
K202R |
probably benign |
Het |
| Gphn |
A |
T |
12: 78,655,994 (GRCm39) |
D407V |
probably damaging |
Het |
| Hnf1b |
A |
G |
11: 83,746,752 (GRCm39) |
K123E |
probably damaging |
Het |
| Ifitm10 |
T |
C |
7: 141,882,317 (GRCm39) |
D151G |
unknown |
Het |
| Ifna14 |
T |
A |
4: 88,489,601 (GRCm39) |
K145N |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,015,527 (GRCm39) |
C602Y |
probably damaging |
Het |
| Mrps25 |
T |
C |
6: 92,152,163 (GRCm39) |
E119G |
probably benign |
Het |
| Or10ak9 |
A |
T |
4: 118,726,157 (GRCm39) |
M60L |
probably damaging |
Het |
| Or1f12 |
A |
G |
13: 21,721,528 (GRCm39) |
S216P |
probably benign |
Het |
| Pgm5 |
C |
A |
19: 24,686,659 (GRCm39) |
R516L |
probably benign |
Het |
| Pramel31 |
C |
T |
4: 144,090,331 (GRCm39) |
A457V |
probably damaging |
Het |
| Rmnd5b |
A |
G |
11: 51,518,849 (GRCm39) |
L48P |
possibly damaging |
Het |
| Samd4b |
G |
A |
7: 28,113,546 (GRCm39) |
R140C |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,635,085 (GRCm39) |
I717T |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,146,230 (GRCm39) |
S1203N |
probably benign |
Het |
| Stard13 |
T |
C |
5: 150,986,591 (GRCm39) |
I188M |
probably benign |
Het |
| Stk17b |
T |
C |
1: 53,815,701 (GRCm39) |
T33A |
probably benign |
Het |
| Stxbp3 |
A |
T |
3: 108,717,211 (GRCm39) |
I264N |
probably damaging |
Het |
| Tmem60 |
T |
A |
5: 21,091,622 (GRCm39) |
F129Y |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,868,908 (GRCm39) |
D404G |
probably null |
Het |
| Unc79 |
A |
C |
12: 103,041,105 (GRCm39) |
S713R |
possibly damaging |
Het |
| Uox |
A |
C |
3: 146,302,951 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,800 (GRCm39) |
D38G |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,618,998 (GRCm39) |
D2856G |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,114,293 (GRCm39) |
L205P |
probably damaging |
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 |
|
|
IGL02372:Smpdl3a
|
APN |
10 |
57,683,611 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
2015-12-18 |
Incidental Mutation