Incidental Mutation 'IGL03380:Smpd3'
ID |
420660 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Smpd3
|
Ensembl Gene |
ENSMUSG00000031906 |
Gene Name |
sphingomyelin phosphodiesterase 3, neutral |
Synonyms |
4631433G07Rik, neutral sphingomyelinase II, nSMase2, fro, Nsm2 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
IGL03380
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106979180-107064597 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 106986291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 504
(V504I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148282
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067512]
[ENSMUST00000212896]
|
AlphaFold |
Q9JJY3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067512
AA Change: V504I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000069255 Gene: ENSMUSG00000031906 AA Change: V504I
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
low complexity region
|
178 |
189 |
N/A |
INTRINSIC |
Pfam:Exo_endo_phos
|
321 |
639 |
1.2e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180410
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212896
AA Change: V504I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice exhibit dwarfism, delayed sexual and gonad maturation, delayed ossification of the long bones, and reduced serum levels of thyroxine, triiodothyronine, cortisol, and insulin-like growth factor. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,248,574 (GRCm39) |
N2774D |
probably benign |
Het |
Aldh1a2 |
T |
G |
9: 71,162,399 (GRCm39) |
Y149* |
probably null |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,343,344 (GRCm39) |
D542G |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,889,529 (GRCm39) |
E582G |
probably benign |
Het |
C4b |
A |
T |
17: 34,959,260 (GRCm39) |
V438D |
probably benign |
Het |
Caps2 |
A |
G |
10: 112,036,601 (GRCm39) |
E345G |
probably benign |
Het |
Cdk19 |
C |
T |
10: 40,352,908 (GRCm39) |
P308L |
probably benign |
Het |
Drc3 |
A |
G |
11: 60,268,731 (GRCm39) |
E307G |
probably benign |
Het |
Dst |
G |
A |
1: 34,296,881 (GRCm39) |
A1041T |
probably damaging |
Het |
Elp2 |
T |
C |
18: 24,755,537 (GRCm39) |
V428A |
probably benign |
Het |
Eml5 |
G |
T |
12: 98,840,906 (GRCm39) |
|
probably benign |
Het |
Fam120b |
G |
A |
17: 15,623,396 (GRCm39) |
|
probably benign |
Het |
Fpr-rs6 |
G |
A |
17: 20,403,245 (GRCm39) |
L39F |
possibly damaging |
Het |
Fsd1 |
T |
C |
17: 56,302,456 (GRCm39) |
I300T |
probably benign |
Het |
Hsd17b6 |
T |
C |
10: 127,830,207 (GRCm39) |
|
probably null |
Het |
Hspa1a |
T |
C |
17: 35,189,253 (GRCm39) |
K550R |
probably benign |
Het |
Krba1 |
A |
G |
6: 48,380,387 (GRCm39) |
H37R |
possibly damaging |
Het |
Lama2 |
T |
C |
10: 26,926,261 (GRCm39) |
D2117G |
probably damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,620 (GRCm39) |
F332S |
possibly damaging |
Het |
Mindy1 |
T |
C |
3: 95,198,329 (GRCm39) |
|
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,399,627 (GRCm39) |
Y284* |
probably null |
Het |
Or5b109 |
T |
A |
19: 13,212,365 (GRCm39) |
F250L |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,270,894 (GRCm39) |
T3220S |
probably damaging |
Het |
Pramel7 |
A |
T |
2: 87,321,716 (GRCm39) |
D106E |
probably benign |
Het |
Psme3 |
T |
C |
11: 101,210,852 (GRCm39) |
|
probably null |
Het |
Rsph1 |
T |
C |
17: 31,496,210 (GRCm39) |
E7G |
unknown |
Het |
Slc13a2 |
T |
C |
11: 78,289,908 (GRCm39) |
T469A |
probably benign |
Het |
Slc30a9 |
C |
T |
5: 67,473,054 (GRCm39) |
T46I |
probably benign |
Het |
Slc37a4 |
T |
G |
9: 44,311,320 (GRCm39) |
S204A |
probably benign |
Het |
Slc8b1 |
T |
C |
5: 120,657,800 (GRCm39) |
F88L |
probably damaging |
Het |
Tbx4 |
A |
G |
11: 85,805,465 (GRCm39) |
N418S |
probably benign |
Het |
Tmem132c |
A |
G |
5: 127,613,506 (GRCm39) |
T470A |
probably benign |
Het |
Tmem207 |
A |
T |
16: 26,345,407 (GRCm39) |
C20S |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,766,142 (GRCm39) |
A761V |
possibly damaging |
Het |
Vmn1r191 |
C |
T |
13: 22,363,055 (GRCm39) |
S233N |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,513,874 (GRCm39) |
E256D |
probably benign |
Het |
Zc3hav1 |
T |
C |
6: 38,313,493 (GRCm39) |
Y184C |
probably damaging |
Het |
|
Other mutations in Smpd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
BB010:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
BB020:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
G1citation:Smpd3
|
UTSW |
8 |
106,992,596 (GRCm39) |
start gained |
probably benign |
|
R0240:Smpd3
|
UTSW |
8 |
106,991,788 (GRCm39) |
missense |
probably damaging |
0.96 |
R0240:Smpd3
|
UTSW |
8 |
106,991,788 (GRCm39) |
missense |
probably damaging |
0.96 |
R0456:Smpd3
|
UTSW |
8 |
106,986,288 (GRCm39) |
missense |
probably benign |
|
R0759:Smpd3
|
UTSW |
8 |
106,991,860 (GRCm39) |
missense |
probably benign |
0.34 |
R0799:Smpd3
|
UTSW |
8 |
106,991,421 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1544:Smpd3
|
UTSW |
8 |
106,992,199 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1756:Smpd3
|
UTSW |
8 |
106,991,603 (GRCm39) |
missense |
probably benign |
|
R2937:Smpd3
|
UTSW |
8 |
106,991,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R2939:Smpd3
|
UTSW |
8 |
106,984,039 (GRCm39) |
missense |
probably benign |
0.00 |
R4614:Smpd3
|
UTSW |
8 |
106,986,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R5829:Smpd3
|
UTSW |
8 |
106,991,512 (GRCm39) |
missense |
probably benign |
0.15 |
R6822:Smpd3
|
UTSW |
8 |
106,992,596 (GRCm39) |
start gained |
probably benign |
|
R6891:Smpd3
|
UTSW |
8 |
106,991,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R6962:Smpd3
|
UTSW |
8 |
106,991,851 (GRCm39) |
missense |
probably benign |
0.34 |
R6965:Smpd3
|
UTSW |
8 |
106,986,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R7344:Smpd3
|
UTSW |
8 |
106,991,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R7394:Smpd3
|
UTSW |
8 |
106,991,642 (GRCm39) |
missense |
probably damaging |
0.99 |
R7823:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
R7825:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
R7933:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
R7974:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
R7975:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
R7976:Smpd3
|
UTSW |
8 |
106,982,254 (GRCm39) |
missense |
probably benign |
|
R7977:Smpd3
|
UTSW |
8 |
106,986,526 (GRCm39) |
missense |
probably benign |
0.11 |
R7987:Smpd3
|
UTSW |
8 |
106,986,526 (GRCm39) |
missense |
probably benign |
0.11 |
R8260:Smpd3
|
UTSW |
8 |
106,984,047 (GRCm39) |
missense |
probably benign |
0.13 |
R8264:Smpd3
|
UTSW |
8 |
106,991,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R8292:Smpd3
|
UTSW |
8 |
106,991,422 (GRCm39) |
missense |
probably benign |
0.08 |
R8432:Smpd3
|
UTSW |
8 |
106,984,309 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8494:Smpd3
|
UTSW |
8 |
106,981,982 (GRCm39) |
missense |
probably damaging |
0.99 |
R8779:Smpd3
|
UTSW |
8 |
106,992,121 (GRCm39) |
missense |
probably benign |
0.37 |
R8787:Smpd3
|
UTSW |
8 |
106,982,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R9005:Smpd3
|
UTSW |
8 |
106,984,058 (GRCm39) |
missense |
probably benign |
0.02 |
R9008:Smpd3
|
UTSW |
8 |
106,984,058 (GRCm39) |
missense |
probably benign |
0.02 |
R9355:Smpd3
|
UTSW |
8 |
106,991,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R9516:Smpd3
|
UTSW |
8 |
106,992,119 (GRCm39) |
missense |
probably benign |
0.03 |
R9698:Smpd3
|
UTSW |
8 |
106,992,296 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9703:Smpd3
|
UTSW |
8 |
106,991,713 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Smpd3
|
UTSW |
8 |
106,991,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |