Incidental Mutation 'R1216:Smpdl3a'
ID |
99653 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smpdl3a
|
Ensembl Gene |
ENSMUSG00000019872 |
Gene Name |
sphingomyelin phosphodiesterase, acid-like 3A |
Synonyms |
ASM3A, 0610010C24Rik, ASML3A |
MMRRC Submission |
039285-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1216 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
57670640-57687926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 57678575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 126
(I126S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020022]
[ENSMUST00000151623]
|
AlphaFold |
P70158 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020022
AA Change: I126S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020022 Gene: ENSMUSG00000019872 AA Change: I126S
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 null
Transcript: ENSMUST00000151623
AA Change: I96S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.8036 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
T |
1: 11,868,716 (GRCm39) |
D332V |
probably damaging |
Het |
Akr1c12 |
T |
C |
13: 4,326,322 (GRCm39) |
Y53C |
probably benign |
Het |
Arhgap23 |
T |
C |
11: 97,383,498 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
C |
4: 126,710,276 (GRCm39) |
|
probably benign |
Het |
B4galnt2 |
A |
G |
11: 95,782,767 (GRCm39) |
L15P |
probably benign |
Het |
Cadps2 |
A |
G |
6: 23,583,472 (GRCm39) |
|
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dppa4 |
T |
C |
16: 48,113,343 (GRCm39) |
F244S |
possibly damaging |
Het |
Exoc1 |
A |
G |
5: 76,702,035 (GRCm39) |
K445R |
probably benign |
Het |
Fam47e |
A |
G |
5: 92,710,343 (GRCm39) |
E114G |
probably damaging |
Het |
Fgf12 |
A |
T |
16: 27,981,202 (GRCm39) |
N171K |
possibly damaging |
Het |
Fyb2 |
G |
A |
4: 104,852,903 (GRCm39) |
V528M |
possibly damaging |
Het |
Ghr |
A |
G |
15: 3,349,337 (GRCm39) |
S614P |
probably damaging |
Het |
Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
Gpr152 |
T |
A |
19: 4,193,554 (GRCm39) |
V365D |
possibly damaging |
Het |
Guca1a |
A |
G |
17: 47,706,637 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
G |
A |
13: 42,310,997 (GRCm39) |
G1079D |
probably benign |
Het |
Hnrnpm |
T |
C |
17: 33,868,687 (GRCm39) |
D580G |
probably damaging |
Het |
Ints6 |
A |
T |
14: 62,945,147 (GRCm39) |
D394E |
probably damaging |
Het |
Kat6b |
T |
A |
14: 21,672,108 (GRCm39) |
Y339* |
probably null |
Het |
Kcnj11 |
C |
A |
7: 45,749,285 (GRCm39) |
V13L |
probably benign |
Het |
Lama3 |
C |
T |
18: 12,554,191 (GRCm39) |
|
probably benign |
Het |
Mtrex |
A |
G |
13: 113,050,876 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,709,473 (GRCm39) |
T161A |
probably benign |
Het |
Ncapg |
G |
T |
5: 45,857,261 (GRCm39) |
S991I |
possibly damaging |
Het |
Nrde2 |
G |
A |
12: 100,116,069 (GRCm39) |
|
probably benign |
Het |
Or4c127 |
T |
A |
2: 89,832,822 (GRCm39) |
I24N |
probably benign |
Het |
Or5d18 |
T |
C |
2: 87,864,602 (GRCm39) |
R294G |
probably damaging |
Het |
Pcdhb7 |
A |
T |
18: 37,476,927 (GRCm39) |
T688S |
probably damaging |
Het |
Pla2g6 |
T |
C |
15: 79,190,635 (GRCm39) |
D309G |
probably benign |
Het |
Plod1 |
A |
T |
4: 148,005,584 (GRCm39) |
V404D |
probably damaging |
Het |
Ppp2r2a |
G |
T |
14: 67,266,447 (GRCm39) |
Y71* |
probably null |
Het |
Prcp |
A |
G |
7: 92,566,954 (GRCm39) |
N222S |
probably benign |
Het |
Rad21 |
T |
C |
15: 51,833,532 (GRCm39) |
T316A |
possibly damaging |
Het |
Ranbp2 |
T |
C |
10: 58,319,034 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
C |
A |
2: 72,038,492 (GRCm39) |
P548T |
possibly damaging |
Het |
Ric1 |
G |
T |
19: 29,555,135 (GRCm39) |
M416I |
probably benign |
Het |
Slc9a8 |
T |
C |
2: 167,266,041 (GRCm39) |
F6S |
probably benign |
Het |
Sphkap |
A |
T |
1: 83,268,698 (GRCm39) |
L98Q |
probably damaging |
Het |
Spink4 |
T |
G |
4: 40,924,974 (GRCm39) |
|
probably benign |
Het |
Taar5 |
A |
T |
10: 23,847,605 (GRCm39) |
L334F |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,289,203 (GRCm39) |
I454K |
probably benign |
Het |
Ttc7 |
C |
T |
17: 87,654,006 (GRCm39) |
T561M |
possibly damaging |
Het |
Vmn2r9 |
G |
T |
5: 108,995,440 (GRCm39) |
H403N |
probably damaging |
Het |
Zdbf2 |
G |
A |
1: 63,342,161 (GRCm39) |
C180Y |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGATCCTGTGGAATAGGCAGTG -3'
(R):5'- CAGGAATGCTTCCTTATACGCCACC -3'
Sequencing Primer
(F):5'- gctcaaaccatcccttgcttc -3'
(R):5'- CCACTGTCATAACTCTGACACTG -3'
|
Posted On |
2014-01-15 |