Incidental Mutation 'IGL02655:Nsmaf'
| ID |
302293 |
| 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 # |
IGL02655
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
6396207-6454271 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6424933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 272
(F272L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029910]
|
| AlphaFold |
O35242 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029910
AA Change: F272L
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
AA Change: F272L
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
A |
T |
2: 35,270,498 (GRCm39) |
S68T |
possibly damaging |
Het |
| 4930544G11Rik |
T |
G |
6: 65,930,074 (GRCm39) |
V103G |
probably damaging |
Het |
| Adam7 |
A |
T |
14: 68,754,060 (GRCm39) |
D346E |
probably damaging |
Het |
| Adamts1 |
A |
G |
16: 85,599,505 (GRCm39) |
S32P |
probably benign |
Het |
| Adamtsl2 |
T |
C |
2: 26,972,542 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
C |
A |
4: 129,885,972 (GRCm39) |
Y37* |
probably null |
Het |
| Apba3 |
A |
G |
10: 81,108,788 (GRCm39) |
R547G |
probably benign |
Het |
| Ccnd2 |
C |
T |
6: 127,125,733 (GRCm39) |
G101D |
probably damaging |
Het |
| Cpm |
A |
G |
10: 117,519,186 (GRCm39) |
T365A |
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,764,624 (GRCm39) |
V380A |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,155,461 (GRCm39) |
|
probably benign |
Het |
| Enpp1 |
A |
C |
10: 24,553,872 (GRCm39) |
D105E |
probably damaging |
Het |
| Ermp1 |
C |
A |
19: 29,623,610 (GRCm39) |
E127* |
probably null |
Het |
| Evi5 |
T |
C |
5: 107,961,446 (GRCm39) |
K375R |
probably benign |
Het |
| Gm11564 |
A |
T |
11: 99,705,982 (GRCm39) |
C149* |
probably null |
Het |
| Golgb1 |
A |
T |
16: 36,738,442 (GRCm39) |
E2260D |
probably damaging |
Het |
| Gpc2 |
T |
C |
5: 138,277,187 (GRCm39) |
D80G |
possibly damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,248,960 (GRCm39) |
I151V |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,901,473 (GRCm39) |
I1058T |
possibly damaging |
Het |
| Krtap4-8 |
A |
T |
11: 99,671,454 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
G |
9: 86,536,780 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,315,748 (GRCm39) |
R38H |
probably damaging |
Het |
| Pcyox1 |
A |
T |
6: 86,366,326 (GRCm39) |
V78E |
probably damaging |
Het |
| Pkp1 |
G |
T |
1: 135,817,511 (GRCm39) |
T208N |
probably benign |
Het |
| Plagl2 |
T |
C |
2: 153,074,337 (GRCm39) |
E188G |
probably damaging |
Het |
| Pramel15 |
A |
G |
4: 144,099,416 (GRCm39) |
F450L |
probably benign |
Het |
| Relch |
G |
A |
1: 105,605,971 (GRCm39) |
V204M |
probably damaging |
Het |
| Ric1 |
T |
A |
19: 29,572,851 (GRCm39) |
S764T |
probably damaging |
Het |
| Sec24a |
G |
A |
11: 51,625,482 (GRCm39) |
T247M |
probably benign |
Het |
| Slc25a17 |
C |
T |
15: 81,207,844 (GRCm39) |
R248Q |
probably benign |
Het |
| Stk36 |
C |
T |
1: 74,673,694 (GRCm39) |
P1068S |
probably damaging |
Het |
| Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
| Tfec |
C |
T |
6: 16,834,308 (GRCm39) |
A200T |
possibly damaging |
Het |
| Vmn2r4 |
A |
G |
3: 64,305,886 (GRCm39) |
I512T |
probably 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 |
|
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 |
|
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