Incidental Mutation 'IGL02003:Nsmaf'
ID |
182165 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nsmaf
|
Ensembl Gene |
ENSMUSG00000028245 |
Gene Name |
neutral sphingomyelinase (N-SMase) activation associated factor |
Synonyms |
Fan, factor associated with N-SMase activation |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
IGL02003
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
6396207-6454271 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6418522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 428
(I428V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029910]
|
AlphaFold |
O35242 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029910
AA Change: I428V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000029910 Gene: ENSMUSG00000028245 AA Change: I428V
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
28 |
N/A |
INTRINSIC |
GRAM
|
176 |
247 |
2.22e-11 |
SMART |
Beach
|
302 |
575 |
6.28e-190 |
SMART |
WD40
|
622 |
661 |
4.55e-3 |
SMART |
WD40
|
664 |
703 |
2.97e0 |
SMART |
WD40
|
706 |
743 |
1.47e-6 |
SMART |
WD40
|
756 |
794 |
1.7e-2 |
SMART |
WD40
|
797 |
836 |
1.02e-5 |
SMART |
WD40
|
839 |
875 |
9.55e0 |
SMART |
WD40
|
878 |
917 |
1.5e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143566
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143704
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156078
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156715
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009] PHENOTYPE: Mice homozygous for a targeted null mutation show no gross phenotypic abnormalities but display delayed cutaneous barrier repair. In addition, D-galactosamine-sensitized homozygotes are partially resistant to LPS- and TNF-induced lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449E01Rik |
A |
G |
14: 105,736,392 (GRCm39) |
|
noncoding transcript |
Het |
Adam1b |
G |
A |
5: 121,639,354 (GRCm39) |
L564F |
probably damaging |
Het |
Alms1 |
C |
T |
6: 85,599,205 (GRCm39) |
P1344S |
possibly damaging |
Het |
Cnnm2 |
G |
T |
19: 46,856,998 (GRCm39) |
G699W |
probably damaging |
Het |
Crybg2 |
A |
G |
4: 133,799,767 (GRCm39) |
K309R |
probably benign |
Het |
Csnk2a1 |
C |
T |
2: 152,118,890 (GRCm39) |
R333* |
probably null |
Het |
Eif3m |
C |
T |
2: 104,843,188 (GRCm39) |
|
probably benign |
Het |
Fgfr2 |
T |
C |
7: 129,820,802 (GRCm39) |
D244G |
probably damaging |
Het |
H2-Q10 |
A |
G |
17: 35,781,338 (GRCm39) |
I47V |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,318,994 (GRCm39) |
T3898I |
possibly damaging |
Het |
Isyna1 |
G |
A |
8: 71,049,407 (GRCm39) |
V440M |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,340,449 (GRCm39) |
K2654E |
probably damaging |
Het |
Lrrd1 |
C |
T |
5: 3,899,857 (GRCm39) |
T54I |
probably damaging |
Het |
Lrrk2 |
G |
A |
15: 91,615,694 (GRCm39) |
V843M |
probably damaging |
Het |
Morc2b |
A |
T |
17: 33,357,298 (GRCm39) |
V158D |
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,559,726 (GRCm39) |
T734A |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,085,727 (GRCm39) |
D136G |
probably benign |
Het |
Nos1 |
T |
C |
5: 118,043,530 (GRCm39) |
S602P |
probably damaging |
Het |
Nup93 |
T |
G |
8: 95,028,737 (GRCm39) |
Y323* |
probably null |
Het |
Or5ac21 |
G |
A |
16: 59,123,996 (GRCm39) |
G161D |
probably damaging |
Het |
Or7g21 |
A |
T |
9: 19,032,361 (GRCm39) |
M34L |
probably benign |
Het |
Or8b50 |
C |
T |
9: 38,518,136 (GRCm39) |
A125V |
probably damaging |
Het |
Ppm1m |
C |
A |
9: 106,076,356 (GRCm39) |
G13W |
probably damaging |
Het |
Prok1 |
T |
G |
3: 107,142,979 (GRCm39) |
H75P |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,203,410 (GRCm39) |
I1774F |
probably damaging |
Het |
Rasl10b |
A |
T |
11: 83,308,679 (GRCm39) |
E73V |
probably damaging |
Het |
Rhbdl3 |
A |
G |
11: 80,228,342 (GRCm39) |
T271A |
possibly damaging |
Het |
Serpina3a |
A |
G |
12: 104,082,259 (GRCm39) |
M11V |
probably benign |
Het |
Setdb2 |
T |
C |
14: 59,650,939 (GRCm39) |
E464G |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,735,625 (GRCm39) |
I749T |
possibly damaging |
Het |
Slco6d1 |
T |
A |
1: 98,408,493 (GRCm39) |
I463N |
probably damaging |
Het |
Sncb |
A |
T |
13: 54,910,743 (GRCm39) |
V51E |
probably damaging |
Het |
Stk32c |
A |
G |
7: 138,768,069 (GRCm39) |
S71P |
possibly damaging |
Het |
Tet1 |
A |
G |
10: 62,652,179 (GRCm39) |
V1613A |
possibly damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,327,921 (GRCm39) |
I505K |
probably benign |
Het |
Zfp110 |
A |
T |
7: 12,583,832 (GRCm39) |
K827* |
probably null |
Het |
Zfp438 |
A |
T |
18: 5,214,503 (GRCm39) |
C152S |
probably benign |
Het |
|
Other mutations in Nsmaf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00697:Nsmaf
|
APN |
4 |
6,417,163 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00778:Nsmaf
|
APN |
4 |
6,435,056 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01775:Nsmaf
|
APN |
4 |
6,396,791 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02039:Nsmaf
|
APN |
4 |
6,424,995 (GRCm39) |
splice site |
probably benign |
|
IGL02085:Nsmaf
|
APN |
4 |
6,398,551 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02252:Nsmaf
|
APN |
4 |
6,398,378 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02655:Nsmaf
|
APN |
4 |
6,424,933 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0023:Nsmaf
|
UTSW |
4 |
6,408,680 (GRCm39) |
missense |
probably damaging |
0.96 |
R0454:Nsmaf
|
UTSW |
4 |
6,424,874 (GRCm39) |
splice site |
probably null |
|
R0538:Nsmaf
|
UTSW |
4 |
6,419,930 (GRCm39) |
splice site |
probably null |
|
R0605:Nsmaf
|
UTSW |
4 |
6,418,470 (GRCm39) |
critical splice donor site |
probably null |
|
R1033:Nsmaf
|
UTSW |
4 |
6,438,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R1472:Nsmaf
|
UTSW |
4 |
6,423,448 (GRCm39) |
nonsense |
probably null |
|
R1519:Nsmaf
|
UTSW |
4 |
6,438,062 (GRCm39) |
missense |
probably benign |
0.06 |
R1641:Nsmaf
|
UTSW |
4 |
6,409,884 (GRCm39) |
missense |
probably benign |
0.01 |
R1668:Nsmaf
|
UTSW |
4 |
6,398,880 (GRCm39) |
missense |
probably damaging |
0.98 |
R2212:Nsmaf
|
UTSW |
4 |
6,396,732 (GRCm39) |
missense |
probably damaging |
0.99 |
R2351:Nsmaf
|
UTSW |
4 |
6,437,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R3862:Nsmaf
|
UTSW |
4 |
6,435,064 (GRCm39) |
missense |
probably benign |
0.00 |
R4112:Nsmaf
|
UTSW |
4 |
6,417,188 (GRCm39) |
nonsense |
probably null |
|
R4644:Nsmaf
|
UTSW |
4 |
6,419,940 (GRCm39) |
splice site |
probably benign |
|
R4807:Nsmaf
|
UTSW |
4 |
6,398,542 (GRCm39) |
splice site |
probably null |
|
R4960:Nsmaf
|
UTSW |
4 |
6,423,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R5556:Nsmaf
|
UTSW |
4 |
6,398,621 (GRCm39) |
missense |
probably benign |
0.00 |
R5936:Nsmaf
|
UTSW |
4 |
6,421,017 (GRCm39) |
intron |
probably benign |
|
R7288:Nsmaf
|
UTSW |
4 |
6,416,641 (GRCm39) |
missense |
probably benign |
|
R7295:Nsmaf
|
UTSW |
4 |
6,438,083 (GRCm39) |
missense |
probably benign |
0.00 |
R7378:Nsmaf
|
UTSW |
4 |
6,416,586 (GRCm39) |
missense |
probably benign |
|
R7615:Nsmaf
|
UTSW |
4 |
6,408,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R7842:Nsmaf
|
UTSW |
4 |
6,435,109 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7993:Nsmaf
|
UTSW |
4 |
6,398,647 (GRCm39) |
missense |
probably benign |
0.15 |
R8737:Nsmaf
|
UTSW |
4 |
6,396,748 (GRCm39) |
missense |
probably benign |
0.15 |
R8856:Nsmaf
|
UTSW |
4 |
6,433,320 (GRCm39) |
nonsense |
probably null |
|
R8905:Nsmaf
|
UTSW |
4 |
6,424,951 (GRCm39) |
missense |
probably benign |
0.07 |
R8963:Nsmaf
|
UTSW |
4 |
6,428,471 (GRCm39) |
missense |
probably damaging |
0.98 |
R9019:Nsmaf
|
UTSW |
4 |
6,418,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R9097:Nsmaf
|
UTSW |
4 |
6,416,543 (GRCm39) |
frame shift |
probably null |
|
R9099:Nsmaf
|
UTSW |
4 |
6,416,543 (GRCm39) |
frame shift |
probably null |
|
R9288:Nsmaf
|
UTSW |
4 |
6,414,976 (GRCm39) |
missense |
probably benign |
0.01 |
R9328:Nsmaf
|
UTSW |
4 |
6,426,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R9378:Nsmaf
|
UTSW |
4 |
6,440,940 (GRCm39) |
missense |
probably benign |
0.00 |
R9481:Nsmaf
|
UTSW |
4 |
6,414,976 (GRCm39) |
missense |
probably benign |
0.01 |
R9556:Nsmaf
|
UTSW |
4 |
6,408,637 (GRCm39) |
missense |
probably benign |
0.08 |
R9745:Nsmaf
|
UTSW |
4 |
6,416,662 (GRCm39) |
missense |
possibly damaging |
0.49 |
X0021:Nsmaf
|
UTSW |
4 |
6,398,543 (GRCm39) |
critical splice donor site |
probably null |
|
X0063:Nsmaf
|
UTSW |
4 |
6,414,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2014-05-07 |