Incidental Mutation 'IGL02085:Nsmaf'
ID |
283489 |
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 # |
IGL02085
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
6396207-6454271 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 6398551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 851
(P851L)
|
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: P851L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000029910 Gene: ENSMUSG00000028245 AA Change: P851L
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
A |
G |
9: 44,192,854 (GRCm39) |
|
probably null |
Het |
Akr1c14 |
T |
A |
13: 4,128,035 (GRCm39) |
C145* |
probably null |
Het |
Arhgef26 |
A |
G |
3: 62,367,145 (GRCm39) |
|
probably benign |
Het |
Asb9 |
A |
G |
X: 163,318,452 (GRCm39) |
M215V |
probably benign |
Het |
Atoh8 |
C |
A |
6: 72,212,157 (GRCm39) |
|
probably benign |
Het |
Atp6v1b1 |
T |
A |
6: 83,730,897 (GRCm39) |
|
probably benign |
Het |
Cep97 |
T |
C |
16: 55,735,868 (GRCm39) |
E310G |
probably damaging |
Het |
Ctrc |
C |
T |
4: 141,571,025 (GRCm39) |
D72N |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,349,011 (GRCm39) |
I2492T |
probably benign |
Het |
Emilin2 |
A |
G |
17: 71,582,144 (GRCm39) |
V194A |
probably damaging |
Het |
Epb41l5 |
T |
C |
1: 119,500,586 (GRCm39) |
T524A |
probably benign |
Het |
Fam91a1 |
A |
G |
15: 58,313,505 (GRCm39) |
N497S |
possibly damaging |
Het |
Gabpb1 |
A |
T |
2: 126,481,191 (GRCm39) |
C319* |
probably null |
Het |
Galnt10 |
A |
G |
11: 57,673,104 (GRCm39) |
T487A |
probably benign |
Het |
Hecw2 |
T |
A |
1: 53,981,961 (GRCm39) |
|
probably null |
Het |
Hmg20a |
C |
T |
9: 56,384,586 (GRCm39) |
Q119* |
probably null |
Het |
Ifi44l |
A |
G |
3: 151,468,477 (GRCm39) |
S18P |
unknown |
Het |
Immt |
T |
A |
6: 71,828,820 (GRCm39) |
V125E |
probably benign |
Het |
Ints13 |
T |
C |
6: 146,451,437 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,779,321 (GRCm39) |
G2574S |
probably benign |
Het |
Myoc |
T |
C |
1: 162,467,343 (GRCm39) |
C171R |
probably benign |
Het |
Ncbp1 |
C |
T |
4: 46,159,699 (GRCm39) |
T404M |
probably damaging |
Het |
Npy6r |
A |
G |
18: 44,408,998 (GRCm39) |
N140D |
probably damaging |
Het |
Nrxn2 |
A |
T |
19: 6,542,898 (GRCm39) |
M1041L |
possibly damaging |
Het |
Nutm2 |
T |
A |
13: 50,627,829 (GRCm39) |
|
probably null |
Het |
Or10ak8 |
A |
G |
4: 118,773,947 (GRCm39) |
F239S |
probably damaging |
Het |
Or2g25 |
A |
G |
17: 37,970,579 (GRCm39) |
V215A |
probably benign |
Het |
Or4f61 |
A |
C |
2: 111,922,869 (GRCm39) |
M59R |
probably damaging |
Het |
Padi2 |
T |
G |
4: 140,654,468 (GRCm39) |
Y206* |
probably null |
Het |
Pcdh19 |
A |
T |
X: 132,582,007 (GRCm39) |
Y766* |
probably null |
Het |
Pde12 |
A |
G |
14: 26,387,619 (GRCm39) |
|
probably benign |
Het |
Ppl |
C |
T |
16: 4,907,680 (GRCm39) |
G872R |
probably benign |
Het |
Prkag3 |
C |
T |
1: 74,787,971 (GRCm39) |
|
probably benign |
Het |
Ptgfr |
T |
C |
3: 151,541,437 (GRCm39) |
T24A |
probably benign |
Het |
Rpe65 |
T |
C |
3: 159,321,283 (GRCm39) |
V365A |
probably benign |
Het |
Shank3 |
T |
C |
15: 89,388,118 (GRCm39) |
|
probably null |
Het |
Slco1a6 |
T |
C |
6: 142,032,200 (GRCm39) |
T642A |
probably benign |
Het |
Slco6d1 |
C |
A |
1: 98,371,468 (GRCm39) |
P275T |
probably damaging |
Het |
Smarca1 |
G |
T |
X: 46,964,109 (GRCm39) |
Q343K |
probably damaging |
Het |
Smoc2 |
A |
G |
17: 14,567,495 (GRCm39) |
T180A |
possibly damaging |
Het |
Tfrc |
G |
A |
16: 32,440,004 (GRCm39) |
V406I |
probably benign |
Het |
Tigit |
C |
T |
16: 43,469,473 (GRCm39) |
G206D |
probably benign |
Het |
Triobp |
G |
A |
15: 78,858,497 (GRCm39) |
|
probably benign |
Het |
Trmo |
T |
C |
4: 46,380,217 (GRCm39) |
Y384C |
probably damaging |
Het |
Vmn1r89 |
T |
A |
7: 12,953,465 (GRCm39) |
I67N |
probably damaging |
Het |
Wdr17 |
C |
A |
8: 55,140,771 (GRCm39) |
E194* |
probably null |
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 |
|
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 |
2015-04-16 |