Incidental Mutation 'R4644:Nsmaf'
| ID |
351769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsmaf
|
| Ensembl Gene |
ENSMUSG00000028245 |
| Gene Name |
neutral sphingomyelinase (N-SMase) activation associated factor |
| Synonyms |
Fan, factor associated with N-SMase activation |
| MMRRC Submission |
041905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R4644 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
6396207-6454271 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 6419940 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: ENSMUST00000156078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156715
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (44/45) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
G |
1: 165,378,930 (GRCm39) |
|
probably null |
Het |
| Ano5 |
C |
A |
7: 51,237,433 (GRCm39) |
Y702* |
probably null |
Het |
| Bsph2 |
A |
T |
7: 13,304,942 (GRCm39) |
V11E |
possibly damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,770,426 (GRCm39) |
I173N |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,864,016 (GRCm39) |
V904A |
probably damaging |
Het |
| Dnajc21 |
T |
C |
15: 10,464,003 (GRCm39) |
D54G |
possibly damaging |
Het |
| Doc2a |
C |
A |
7: 126,450,618 (GRCm39) |
T298K |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,785 (GRCm39) |
I953L |
probably benign |
Het |
| Fga |
C |
A |
3: 82,937,573 (GRCm39) |
A150E |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,340,356 (GRCm39) |
M883K |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Klhdc4 |
G |
C |
8: 122,548,739 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
T |
C |
6: 138,133,368 (GRCm39) |
Y50H |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,823,015 (GRCm39) |
K17R |
probably benign |
Het |
| Prss39 |
C |
T |
1: 34,541,207 (GRCm39) |
T237M |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,386,078 (GRCm39) |
I595T |
probably damaging |
Het |
| Ptpre |
C |
T |
7: 135,253,661 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
A |
15: 6,807,416 (GRCm39) |
C728* |
probably null |
Het |
| Scn11a |
C |
T |
9: 119,644,269 (GRCm39) |
|
probably null |
Het |
| Scn1b |
A |
T |
7: 30,817,212 (GRCm39) |
L170* |
probably null |
Het |
| Semp2l2b |
A |
G |
10: 21,942,660 (GRCm39) |
V440A |
probably benign |
Het |
| Slc35f3 |
A |
G |
8: 127,047,809 (GRCm39) |
R50G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,672,036 (GRCm39) |
V412M |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,891,510 (GRCm39) |
V1954I |
probably benign |
Het |
| Srcap |
C |
T |
7: 127,151,770 (GRCm39) |
R2049C |
probably damaging |
Het |
| Ssh2 |
T |
C |
11: 77,340,402 (GRCm39) |
V518A |
possibly damaging |
Het |
| Stab1 |
G |
A |
14: 30,862,444 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,937,963 (GRCm39) |
F1570S |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,299,250 (GRCm39) |
V1076E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,562,757 (GRCm39) |
Y26986* |
probably null |
Het |
| Unc45a |
C |
T |
7: 79,978,257 (GRCm39) |
A673T |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,810,788 (GRCm39) |
Y72H |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACACATTACGAAAAGTTTGAAAGA -3'
(R):5'- GCCTGAGCCAAGATTCATGTA -3'
Sequencing Primer
(F):5'- AGGTTGCCCTAGCTGTCATAGAAC -3'
(R):5'- CCAAGATTCATGTATGGGAGTCAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation