Incidental Mutation 'IGL01526:Smpd1'
ID |
89557 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Smpd1
|
Ensembl Gene |
ENSMUSG00000037049 |
Gene Name |
sphingomyelin phosphodiesterase 1, acid lysosomal |
Synonyms |
ASM, A-SMase, Zn-SMase, aSMase, acid sphingomyelinase |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.305)
|
Stock # |
IGL01526
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
105203567-105207596 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 105203982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Glycine
at position 82
(W82G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042187
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046983]
[ENSMUST00000081165]
[ENSMUST00000186814]
[ENSMUST00000187057]
[ENSMUST00000188001]
[ENSMUST00000188368]
[ENSMUST00000189072]
[ENSMUST00000189265]
[ENSMUST00000189378]
[ENSMUST00000190369]
[ENSMUST00000191601]
[ENSMUST00000191011]
|
AlphaFold |
Q04519 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046983
AA Change: W82G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000042187 Gene: ENSMUSG00000037049 AA Change: W82G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
30 |
52 |
N/A |
INTRINSIC |
SapB
|
85 |
163 |
1.05e-7 |
SMART |
low complexity region
|
177 |
196 |
N/A |
INTRINSIC |
Pfam:Metallophos
|
197 |
459 |
4.4e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081165
|
SMART Domains |
Protein: ENSMUSP00000079932 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
184 |
N/A |
INTRINSIC |
WW
|
254 |
285 |
6.23e-5 |
SMART |
low complexity region
|
287 |
299 |
N/A |
INTRINSIC |
PTB
|
365 |
512 |
4.16e-38 |
SMART |
PTB
|
538 |
667 |
1.76e-36 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186814
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187057
|
SMART Domains |
Protein: ENSMUSP00000139899 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
WW
|
31 |
62 |
3.7e-7 |
SMART |
low complexity region
|
64 |
76 |
N/A |
INTRINSIC |
PTB
|
142 |
287 |
3.8e-41 |
SMART |
PTB
|
313 |
442 |
9.5e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188001
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188368
|
SMART Domains |
Protein: ENSMUSP00000139788 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
WW
|
31 |
62 |
3.7e-7 |
SMART |
low complexity region
|
64 |
76 |
N/A |
INTRINSIC |
PTB
|
142 |
289 |
1.8e-40 |
SMART |
PTB
|
315 |
444 |
9.5e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189072
|
SMART Domains |
Protein: ENSMUSP00000139575 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
Pfam:WW
|
1 |
24 |
8.1e-5 |
PFAM |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
PTB
|
106 |
253 |
1.8e-40 |
SMART |
PTB
|
279 |
408 |
9.5e-39 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191250
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210934
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211614
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189265
|
SMART Domains |
Protein: ENSMUSP00000140137 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
Pfam:PID
|
1 |
34 |
2.3e-6 |
PFAM |
PTB
|
63 |
192 |
9.5e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189378
|
SMART Domains |
Protein: ENSMUSP00000140979 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
184 |
N/A |
INTRINSIC |
WW
|
254 |
285 |
6.23e-5 |
SMART |
low complexity region
|
287 |
299 |
N/A |
INTRINSIC |
PTB
|
365 |
510 |
6.86e-39 |
SMART |
PTB
|
536 |
665 |
1.76e-36 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190369
|
SMART Domains |
Protein: ENSMUSP00000140486 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
Pfam:WW
|
1 |
24 |
8.1e-5 |
PFAM |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
PTB
|
106 |
253 |
1.8e-40 |
SMART |
PTB
|
279 |
408 |
9.5e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191601
|
SMART Domains |
Protein: ENSMUSP00000140116 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
184 |
N/A |
INTRINSIC |
WW
|
254 |
285 |
3.7e-7 |
SMART |
low complexity region
|
287 |
299 |
N/A |
INTRINSIC |
PTB
|
365 |
512 |
1.8e-40 |
SMART |
PTB
|
538 |
667 |
9.5e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191011
|
SMART Domains |
Protein: ENSMUSP00000140973 Gene: ENSMUSG00000037032
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
184 |
N/A |
INTRINSIC |
WW
|
254 |
285 |
6.23e-5 |
SMART |
low complexity region
|
287 |
299 |
N/A |
INTRINSIC |
PTB
|
365 |
510 |
6.86e-39 |
SMART |
PTB
|
536 |
665 |
1.76e-36 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010] PHENOTYPE: Nullizygous mutations cause tremors, ataxia, altered lipid homeostasis, increased foam cell number, Purkinje cell loss and premature death, and may lead to hepatosplenomegaly, hunched posture, reduced weight, abnormal apoptosis, sperm defects, dyspnea, and high susceptibility to bacterial infection. [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 |
1500002C15Rik |
G |
T |
4: 155,818,628 (GRCm39) |
|
probably benign |
Het |
4933430I17Rik |
G |
T |
4: 62,450,858 (GRCm39) |
R107L |
possibly damaging |
Het |
Acvr1 |
A |
T |
2: 58,348,997 (GRCm39) |
D388E |
probably benign |
Het |
Art3 |
T |
C |
5: 92,562,199 (GRCm39) |
S354P |
probably damaging |
Het |
Bpnt1 |
C |
A |
1: 185,077,591 (GRCm39) |
S102* |
probably null |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Cfap65 |
A |
T |
1: 74,950,237 (GRCm39) |
S1171T |
probably damaging |
Het |
Cracd |
T |
A |
5: 77,005,478 (GRCm39) |
M613K |
unknown |
Het |
Csn2 |
T |
C |
5: 87,842,838 (GRCm39) |
H47R |
possibly damaging |
Het |
Gm14496 |
T |
A |
2: 181,637,458 (GRCm39) |
D177E |
probably benign |
Het |
Hmbs |
A |
G |
9: 44,250,845 (GRCm39) |
V126A |
possibly damaging |
Het |
Ica1l |
A |
G |
1: 60,054,916 (GRCm39) |
M105T |
probably damaging |
Het |
Morc2a |
G |
A |
11: 3,600,428 (GRCm39) |
E17K |
probably benign |
Het |
Mroh8 |
T |
C |
2: 157,080,232 (GRCm39) |
|
probably benign |
Het |
Mroh9 |
G |
T |
1: 162,883,172 (GRCm39) |
L436I |
probably damaging |
Het |
Nup54 |
T |
C |
5: 92,565,334 (GRCm39) |
D461G |
probably benign |
Het |
Or10ag2 |
A |
T |
2: 87,249,319 (GRCm39) |
D309V |
probably damaging |
Het |
Or2t45 |
A |
G |
11: 58,669,123 (GRCm39) |
T57A |
probably benign |
Het |
Pcid2 |
G |
A |
8: 13,135,319 (GRCm39) |
|
probably benign |
Het |
Ppp1r3b |
G |
T |
8: 35,851,872 (GRCm39) |
R237L |
probably benign |
Het |
Prdm11 |
A |
G |
2: 92,843,102 (GRCm39) |
V119A |
probably damaging |
Het |
S100a7l2 |
T |
A |
3: 90,995,612 (GRCm39) |
|
probably benign |
Het |
Serpina5 |
T |
A |
12: 104,068,149 (GRCm39) |
V70E |
probably damaging |
Het |
Skap2 |
C |
T |
6: 51,884,894 (GRCm39) |
D249N |
probably benign |
Het |
Slc22a29 |
A |
T |
19: 8,184,542 (GRCm39) |
|
probably benign |
Het |
Slc4a1ap |
C |
A |
5: 31,685,571 (GRCm39) |
T283K |
possibly damaging |
Het |
Slc6a21 |
T |
G |
7: 44,937,220 (GRCm39) |
I575S |
probably damaging |
Het |
Snx14 |
T |
A |
9: 88,263,553 (GRCm39) |
M897L |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,972,406 (GRCm39) |
V586A |
probably damaging |
Het |
Tmc8 |
T |
C |
11: 117,682,910 (GRCm39) |
|
probably benign |
Het |
Trim34a |
A |
G |
7: 103,909,706 (GRCm39) |
Y298C |
probably damaging |
Het |
Ube3c |
T |
C |
5: 29,872,960 (GRCm39) |
V1000A |
probably damaging |
Het |
|
Other mutations in Smpd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Smpd1
|
APN |
7 |
105,205,848 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01147:Smpd1
|
APN |
7 |
105,204,943 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01541:Smpd1
|
APN |
7 |
105,205,033 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL01619:Smpd1
|
APN |
7 |
105,204,549 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01924:Smpd1
|
APN |
7 |
105,204,655 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03004:Smpd1
|
APN |
7 |
105,205,881 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0782:Smpd1
|
UTSW |
7 |
105,204,550 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1445:Smpd1
|
UTSW |
7 |
105,205,881 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1489:Smpd1
|
UTSW |
7 |
105,205,761 (GRCm39) |
splice site |
probably null |
|
R3683:Smpd1
|
UTSW |
7 |
105,204,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R3685:Smpd1
|
UTSW |
7 |
105,204,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R3977:Smpd1
|
UTSW |
7 |
105,205,108 (GRCm39) |
missense |
probably benign |
0.29 |
R4850:Smpd1
|
UTSW |
7 |
105,205,192 (GRCm39) |
missense |
probably benign |
|
R5084:Smpd1
|
UTSW |
7 |
105,206,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R6316:Smpd1
|
UTSW |
7 |
105,204,709 (GRCm39) |
missense |
probably benign |
0.19 |
R6429:Smpd1
|
UTSW |
7 |
105,206,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R6672:Smpd1
|
UTSW |
7 |
105,204,480 (GRCm39) |
missense |
probably benign |
|
R7156:Smpd1
|
UTSW |
7 |
105,203,693 (GRCm39) |
unclassified |
probably benign |
|
R7883:Smpd1
|
UTSW |
7 |
105,206,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R8261:Smpd1
|
UTSW |
7 |
105,204,520 (GRCm39) |
missense |
probably benign |
0.01 |
R9287:Smpd1
|
UTSW |
7 |
105,204,442 (GRCm39) |
missense |
probably benign |
0.14 |
R9406:Smpd1
|
UTSW |
7 |
105,203,750 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9461:Smpd1
|
UTSW |
7 |
105,204,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R9496:Smpd1
|
UTSW |
7 |
105,205,202 (GRCm39) |
critical splice donor site |
probably null |
|
X0021:Smpd1
|
UTSW |
7 |
105,206,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-03 |