Incidental Mutation 'IGL01775:Nsmaf'
| ID |
154063 |
| 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 # |
IGL01775
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
6396207-6454271 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6396791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 899
(E899K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029910]
[ENSMUST00000029912]
[ENSMUST00000103008]
[ENSMUST00000108374]
[ENSMUST00000153861]
[ENSMUST00000175769]
|
| AlphaFold |
O35242 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029910
AA Change: E899K
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029910
Gene: ENSMUSG00000028245
AA Change: E899K
| 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 |
probably benign
Transcript: ENSMUST00000153861
|
| SMART Domains |
Protein: ENSMUSP00000119838
Gene: ENSMUSG00000028249
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
123 |
194 |
7.09e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156715
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175769
|
| SMART Domains |
Protein: ENSMUSP00000135777
Gene: ENSMUSG00000028249
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
124 |
195 |
7.09e-15 |
SMART |
|
Blast:PDZ
|
208 |
249 |
1e-21 |
BLAST |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
A |
T |
11: 84,361,963 (GRCm39) |
L333Q |
probably damaging |
Het |
| Ablim3 |
A |
T |
18: 61,949,989 (GRCm39) |
|
probably benign |
Het |
| Acsl6 |
T |
C |
11: 54,236,826 (GRCm39) |
|
probably benign |
Het |
| Adra1b |
T |
A |
11: 43,726,128 (GRCm39) |
D263V |
probably damaging |
Het |
| Aicda |
G |
A |
6: 122,538,012 (GRCm39) |
V57M |
probably damaging |
Het |
| C2cd3 |
T |
C |
7: 100,092,638 (GRCm39) |
W494R |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,920,017 (GRCm39) |
S165G |
probably benign |
Het |
| Cnot4 |
A |
T |
6: 35,046,411 (GRCm39) |
|
probably benign |
Het |
| Dph6 |
A |
T |
2: 114,348,776 (GRCm39) |
|
probably benign |
Het |
| Emc3 |
A |
G |
6: 113,508,296 (GRCm39) |
S50P |
possibly damaging |
Het |
| Fbxo45 |
A |
C |
16: 32,052,093 (GRCm39) |
|
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,642,125 (GRCm39) |
T599S |
probably benign |
Het |
| Gspt1 |
T |
C |
16: 11,041,159 (GRCm39) |
I535V |
possibly damaging |
Het |
| Hemk1 |
A |
G |
9: 107,207,995 (GRCm39) |
I215T |
possibly damaging |
Het |
| Ighm |
A |
T |
12: 113,386,087 (GRCm39) |
C88S |
unknown |
Het |
| Itih2 |
A |
C |
2: 10,134,097 (GRCm39) |
D38E |
probably benign |
Het |
| Lat |
C |
A |
7: 125,967,261 (GRCm39) |
V113L |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,981,269 (GRCm39) |
F480L |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,300,005 (GRCm39) |
S1676R |
possibly damaging |
Het |
| Msh2 |
A |
T |
17: 87,990,074 (GRCm39) |
N254I |
possibly damaging |
Het |
| Naglu |
T |
C |
11: 100,964,921 (GRCm39) |
M336T |
probably damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,400,222 (GRCm39) |
R483C |
probably damaging |
Het |
| Nup85 |
T |
C |
11: 115,471,593 (GRCm39) |
Y181H |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,499 (GRCm39) |
M112K |
possibly damaging |
Het |
| Or5m5 |
T |
C |
2: 85,815,014 (GRCm39) |
S277P |
probably damaging |
Het |
| Or7g35 |
A |
T |
9: 19,496,001 (GRCm39) |
Q56L |
probably benign |
Het |
| Or8g23 |
C |
A |
9: 38,971,763 (GRCm39) |
L66F |
probably damaging |
Het |
| P2rx3 |
C |
T |
2: 84,854,501 (GRCm39) |
R91H |
probably benign |
Het |
| Plag1 |
T |
C |
4: 3,904,513 (GRCm39) |
D226G |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,090,393 (GRCm39) |
F96I |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,865,112 (GRCm39) |
N399S |
probably benign |
Het |
| Prkd3 |
G |
T |
17: 79,320,189 (GRCm39) |
T51K |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 137,992,497 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Rbm43 |
A |
T |
2: 51,815,460 (GRCm39) |
S254T |
probably damaging |
Het |
| Retsat |
G |
A |
6: 72,584,300 (GRCm39) |
R528Q |
probably damaging |
Het |
| Rlig1 |
A |
T |
10: 100,419,799 (GRCm39) |
L94Q |
probably benign |
Het |
| Rps8 |
C |
A |
4: 117,012,249 (GRCm39) |
R56L |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,956,250 (GRCm39) |
|
probably benign |
Het |
| Sfxn1 |
T |
C |
13: 54,259,758 (GRCm39) |
|
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,911,574 (GRCm39) |
E396D |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,647,890 (GRCm39) |
V135A |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,556,676 (GRCm39) |
D421G |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,640,215 (GRCm39) |
D1374G |
possibly damaging |
Het |
| Wnk2 |
C |
A |
13: 49,224,586 (GRCm39) |
D232Y |
probably damaging |
Het |
| Zfand1 |
T |
C |
3: 10,409,926 (GRCm39) |
T145A |
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 |
|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation