Incidental Mutation 'IGL02039:Nsmaf'
| ID |
184664 |
| 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 # |
IGL02039
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
6396207-6454271 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 6424995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029910]
|
| AlphaFold |
O35242 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029910
|
| SMART Domains |
Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
| 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: ENSMUST00000143983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156283
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,247,193 (GRCm39) |
Y2313* |
probably null |
Het |
| Arhgef12 |
A |
G |
9: 42,883,563 (GRCm39) |
I1323T |
probably benign |
Het |
| C87436 |
A |
G |
6: 86,430,677 (GRCm39) |
M366V |
probably benign |
Het |
| Cep290 |
T |
C |
10: 100,350,464 (GRCm39) |
|
probably null |
Het |
| Cpsf3 |
T |
C |
12: 21,351,457 (GRCm39) |
M326T |
probably damaging |
Het |
| Cpxm2 |
A |
G |
7: 131,649,482 (GRCm39) |
V64A |
probably damaging |
Het |
| Csnka2ip |
G |
A |
16: 64,298,957 (GRCm39) |
S25F |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,524,769 (GRCm39) |
F168L |
possibly damaging |
Het |
| Dhx8 |
T |
C |
11: 101,654,853 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
T |
A |
11: 69,390,038 (GRCm39) |
I736F |
probably damaging |
Het |
| Erf |
T |
C |
7: 24,943,969 (GRCm39) |
E454G |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,450,718 (GRCm39) |
V1482A |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,195,425 (GRCm39) |
L375P |
unknown |
Het |
| Foxm1 |
T |
C |
6: 128,346,323 (GRCm39) |
Y85H |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,600 (GRCm39) |
E631G |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,070,895 (GRCm39) |
D265G |
probably damaging |
Het |
| Gprc5c |
C |
T |
11: 114,755,312 (GRCm39) |
Q330* |
probably null |
Het |
| Grin1 |
C |
T |
2: 25,195,354 (GRCm39) |
V246M |
probably damaging |
Het |
| Ifitm3 |
C |
A |
7: 140,590,563 (GRCm39) |
|
probably benign |
Het |
| Igdcc3 |
G |
A |
9: 65,091,162 (GRCm39) |
V648I |
probably benign |
Het |
| Ighv5-2 |
A |
G |
12: 113,542,214 (GRCm39) |
I87T |
probably benign |
Het |
| Imp4 |
G |
A |
1: 34,482,849 (GRCm39) |
|
probably null |
Het |
| Ino80 |
T |
C |
2: 119,210,554 (GRCm39) |
N1327D |
probably damaging |
Het |
| Kif5a |
T |
C |
10: 127,069,736 (GRCm39) |
I830V |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,424,901 (GRCm39) |
Y4696C |
possibly damaging |
Het |
| Nrl |
T |
C |
14: 55,759,567 (GRCm39) |
E120G |
probably benign |
Het |
| Nup35 |
T |
C |
2: 80,473,119 (GRCm39) |
M64T |
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,230,959 (GRCm39) |
N470I |
probably benign |
Het |
| Oga |
A |
T |
19: 45,762,142 (GRCm39) |
V237E |
probably damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,340 (GRCm39) |
I81N |
possibly damaging |
Het |
| Or9i1 |
C |
T |
19: 13,840,083 (GRCm39) |
Q309* |
probably null |
Het |
| Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,155,032 (GRCm39) |
T287A |
probably benign |
Het |
| Pkd2l2 |
G |
T |
18: 34,568,421 (GRCm39) |
|
probably null |
Het |
| Pola2 |
A |
T |
19: 5,998,497 (GRCm39) |
I355N |
probably damaging |
Het |
| Pp2d1 |
T |
A |
17: 53,823,022 (GRCm39) |
R15* |
probably null |
Het |
| Prpf40a |
T |
C |
2: 53,034,815 (GRCm39) |
D749G |
probably damaging |
Het |
| Rhoh |
T |
C |
5: 66,049,981 (GRCm39) |
S84P |
probably damaging |
Het |
| Slc12a7 |
T |
C |
13: 73,957,213 (GRCm39) |
|
probably null |
Het |
| Slc37a2 |
A |
G |
9: 37,144,980 (GRCm39) |
I454T |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,693,537 (GRCm39) |
D28G |
probably damaging |
Het |
| Socs4 |
T |
C |
14: 47,527,650 (GRCm39) |
I195T |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,123,980 (GRCm39) |
|
probably null |
Het |
| Thbd |
T |
C |
2: 148,248,462 (GRCm39) |
T469A |
probably benign |
Het |
| Thoc5 |
T |
C |
11: 4,872,027 (GRCm39) |
|
probably null |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,380 (GRCm39) |
S127G |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,610 (GRCm39) |
E408G |
probably damaging |
Het |
| Yars1 |
A |
T |
4: 129,109,052 (GRCm39) |
I428F |
probably damaging |
Het |
| Zglp1 |
T |
C |
9: 20,978,335 (GRCm39) |
E14G |
possibly damaging |
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 |
|
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 |
Incidental Mutation