Incidental Mutation 'IGL02252:Nsmaf'
| ID |
286414 |
| 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: 0.080)
|
| Stock # |
IGL02252
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
6396207-6454271 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6398378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 870
(E870G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029910]
[ENSMUST00000029912]
[ENSMUST00000103008]
[ENSMUST00000108374]
|
| AlphaFold |
O35242 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029910
AA Change: E870G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
AA Change: E870G
| 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 |
probably benign
Transcript: ENSMUST00000029912
|
| SMART Domains |
Protein: ENSMUSP00000029912
Gene: ENSMUSG00000028249
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
124 |
195 |
7.09e-15 |
SMART |
|
PDZ
|
208 |
274 |
6.04e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103008
|
| SMART Domains |
Protein: ENSMUSP00000100073
Gene: ENSMUSG00000028249
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
123 |
194 |
7.09e-15 |
SMART |
|
PDZ
|
207 |
273 |
6.04e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108374
|
| SMART Domains |
Protein: ENSMUSP00000104011
Gene: ENSMUSG00000028249
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
124 |
195 |
2.84e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149015
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,444,678 (GRCm39) |
|
probably benign |
Het |
| Actl7b |
A |
T |
4: 56,741,205 (GRCm39) |
I51N |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,311,101 (GRCm39) |
I1119M |
probably benign |
Het |
| Apol10a |
T |
A |
15: 77,372,670 (GRCm39) |
V102D |
probably benign |
Het |
| Atrx |
T |
C |
X: 104,889,429 (GRCm39) |
E1628G |
possibly damaging |
Het |
| Btnl2 |
C |
T |
17: 34,584,364 (GRCm39) |
S429F |
possibly damaging |
Het |
| C4bp |
C |
A |
1: 130,564,524 (GRCm39) |
D387Y |
probably damaging |
Het |
| Ceacam23 |
G |
T |
7: 17,644,457 (GRCm39) |
V525F |
possibly damaging |
Het |
| Crybg3 |
G |
T |
16: 59,372,887 (GRCm39) |
|
probably benign |
Het |
| Dcaf12 |
G |
T |
4: 41,294,085 (GRCm39) |
H351N |
probably benign |
Het |
| Efcab3 |
C |
A |
11: 104,644,753 (GRCm39) |
R1114S |
possibly damaging |
Het |
| Elp1 |
G |
T |
4: 56,759,813 (GRCm39) |
Q1151K |
probably benign |
Het |
| Fign |
A |
G |
2: 63,810,983 (GRCm39) |
S96P |
probably benign |
Het |
| Ggt5 |
A |
G |
10: 75,438,566 (GRCm39) |
I96V |
possibly damaging |
Het |
| Gm3238 |
A |
G |
10: 77,606,691 (GRCm39) |
|
probably benign |
Het |
| Gm4792 |
G |
T |
10: 94,131,102 (GRCm39) |
P69Q |
unknown |
Het |
| Ighv1-58 |
A |
T |
12: 115,275,897 (GRCm39) |
N80K |
possibly damaging |
Het |
| Irgm1 |
C |
T |
11: 48,756,981 (GRCm39) |
G277S |
possibly damaging |
Het |
| Jsrp1 |
A |
G |
10: 80,644,707 (GRCm39) |
V233A |
probably benign |
Het |
| Kcp |
T |
A |
6: 29,504,548 (GRCm39) |
R85W |
probably damaging |
Het |
| Kif14 |
T |
C |
1: 136,406,130 (GRCm39) |
Y565H |
probably damaging |
Het |
| Klk1b4 |
G |
A |
7: 43,860,094 (GRCm39) |
W69* |
probably null |
Het |
| Knl1 |
A |
T |
2: 118,903,021 (GRCm39) |
Q1574L |
probably damaging |
Het |
| Lao1 |
A |
G |
4: 118,824,613 (GRCm39) |
N232D |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,049,157 (GRCm39) |
I108V |
probably benign |
Het |
| Lrrc49 |
T |
A |
9: 60,595,142 (GRCm39) |
M1L |
probably benign |
Het |
| Matn2 |
G |
T |
15: 34,316,736 (GRCm39) |
R26L |
probably damaging |
Het |
| Mmp16 |
G |
A |
4: 18,110,523 (GRCm39) |
D440N |
probably damaging |
Het |
| Mn1 |
G |
A |
5: 111,569,107 (GRCm39) |
A1026T |
probably damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,984,912 (GRCm39) |
F256I |
probably benign |
Het |
| Msantd3 |
A |
C |
4: 48,560,869 (GRCm39) |
E148D |
probably benign |
Het |
| Mylk3 |
G |
T |
8: 86,082,105 (GRCm39) |
L361I |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,293,980 (GRCm39) |
S117P |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,188,964 (GRCm39) |
T320A |
probably damaging |
Het |
| Or5p50 |
C |
A |
7: 107,422,353 (GRCm39) |
A108S |
probably benign |
Het |
| Or7g34 |
T |
A |
9: 19,478,267 (GRCm39) |
I138F |
probably damaging |
Het |
| Pard3 |
T |
G |
8: 128,125,237 (GRCm39) |
S729A |
probably benign |
Het |
| Pdzd9 |
T |
C |
7: 120,262,238 (GRCm39) |
I75V |
probably benign |
Het |
| Pgf |
A |
G |
12: 85,216,199 (GRCm39) |
|
probably benign |
Het |
| Phf1 |
T |
A |
17: 27,154,109 (GRCm39) |
V140D |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,357,708 (GRCm39) |
S775P |
possibly damaging |
Het |
| Rhobtb1 |
A |
T |
10: 69,085,515 (GRCm39) |
T85S |
probably damaging |
Het |
| Sez6 |
T |
A |
11: 77,865,339 (GRCm39) |
Y659N |
probably damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,539,690 (GRCm39) |
L826P |
probably damaging |
Het |
| Sftpd |
T |
A |
14: 40,894,471 (GRCm39) |
D316V |
probably damaging |
Het |
| Shc2 |
T |
C |
10: 79,462,204 (GRCm39) |
D313G |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,986,326 (GRCm39) |
Y232H |
probably damaging |
Het |
| Sntg1 |
G |
T |
1: 8,484,452 (GRCm39) |
P456Q |
probably benign |
Het |
| Sorbs1 |
A |
T |
19: 40,302,841 (GRCm39) |
N783K |
probably damaging |
Het |
| Stag3 |
A |
T |
5: 138,300,810 (GRCm39) |
I923F |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,067,712 (GRCm39) |
H2168L |
possibly damaging |
Het |
| Tmem132c |
A |
T |
5: 127,539,991 (GRCm39) |
N339I |
possibly damaging |
Het |
| Trim34b |
A |
G |
7: 103,979,139 (GRCm39) |
T129A |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,785,994 (GRCm39) |
L664P |
probably damaging |
Het |
| Ubl5 |
C |
T |
9: 20,556,923 (GRCm39) |
R56* |
probably null |
Het |
| Ubox5 |
G |
A |
2: 130,441,707 (GRCm39) |
R327W |
probably damaging |
Het |
| Ubr5 |
G |
T |
15: 38,025,138 (GRCm39) |
A546E |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,213,789 (GRCm39) |
|
probably null |
Het |
| Unc45a |
T |
C |
7: 79,982,717 (GRCm39) |
|
probably benign |
Het |
| Vmn1r236 |
C |
T |
17: 21,507,101 (GRCm39) |
T73I |
probably benign |
Het |
| Vmn2r67 |
T |
G |
7: 84,805,008 (GRCm39) |
N35H |
probably benign |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,531 (GRCm39) |
Y272H |
probably benign |
Het |
| Wdr43 |
T |
A |
17: 71,933,845 (GRCm39) |
D147E |
probably damaging |
Het |
| Zfp352 |
A |
T |
4: 90,112,367 (GRCm39) |
D169V |
probably benign |
Het |
| Zim1 |
A |
T |
7: 6,691,627 (GRCm39) |
N15K |
unknown |
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 |
|
IGL02003:Nsmaf
|
APN |
4 |
6,418,522 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation